Diagnostics

Research

14 pages, 281 KiB

Open AccessArticle

Establishing Normative Values to Determine the Prevalence of Biochemical Hyperandrogenism in Premenopausal Women of Different Ethnicities from Eastern Siberia

by Larisa Suturina, Daria Lizneva, Alina Atalyan, Ludmila Lazareva, Aleksey Belskikh, Tatyana Bairova, Leonid Sholokhov, Maria Rashidova, Irina Danusevich, Iana Nadeliaeva, Lilia Belenkaya, Zorikto Darzhaev, Eldar Sharifulin, Natalia Belkova, Ilia Igumnov, Tatyana Trofimova, Anastasiya Khomyakova, Kseniia Ievleva, Natalia Babaeva, Irina Egorova, Madinabonu Salimova, Bulent O. Yildiz, Richard S. Legro, Frank Z. Stanczyk and Ricardo Azziz Show full author list Hide full author list

Diagnostics 2023, 13(1), 33; https://doi.org/10.3390/diagnostics13010033 - 22 Dec 2022

Cited by 4 | Viewed by 1808

Abstract

Androgen assessment is a key element for diagnosing polycystic ovary syndrome (PCOS), and defining a “normal” level of circulating androgens is critical for epidemiological studies. We determined the upper normal limits (UNLs) for androgens in a population-based group of premenopausal “healthy control” women, [...] Read more.

Androgen assessment is a key element for diagnosing polycystic ovary syndrome (PCOS), and defining a “normal” level of circulating androgens is critical for epidemiological studies. We determined the upper normal limits (UNLs) for androgens in a population-based group of premenopausal “healthy control” women, overall and by ethnicity (Caucasian and Asian), in the cross-sectional Eastern Siberia PCOS Epidemiology and Phenotype (ESPEP) Study (ClinicalTrials.gov ID: NCT05194384) conducted in 2016–2019. Overall, we identified a “healthy control” group consisting of 143 healthy premenopausal women without menstrual dysfunction, hirsutism, polycystic ovaries, or medical disorders. We analyzed serum total testosterone (TT) by using liquid chromatography with tandem mass spectrometry (LC-MS/MS), and DHEAS, sex-hormone-binding globulin (SHBG), TSH, prolactin, and 17-hydroxyprogesterone (17OHP) were assessed with an enzyme-linked immunosorbent assay (ELISA). The UNLs for the entire population for the TT, free androgen index (FAI), and DHEAS were determined as the 98th percentiles in healthy controls as follows: 67.3 (95% confidence interval (CI): 48.1, 76.5) ng/dl, 5.4 (3.5, 14.0), and 355 (289, 371) μg/dl, respectively. The study results demonstrated that the UNLs for TT and FAI varied by ethnicity, whereas the DHEAS UNLs were comparable in the ethnicities studied. Full article

(This article belongs to the Special Issue Maternal-Fetal Medicine)

15 pages, 919 KiB

Open AccessArticle

Evaluation of Fetal Cardiac Geometry and Contractility in Gestational Diabetes Mellitus by Two-Dimensional Speckle-Tracking Technology

by Roxana Gireadă, Demetra Socolov, Elena Mihălceanu, Ioan Tudor Lazăr, Alexandru Luca, Roxana Matasariu, Alexandra Ursache, Iuliana Bujor, Tiberiu Gireadă, Vasile Lucian Boiculese and Răzvan Socolov

Diagnostics 2022, 12(9), 2053; https://doi.org/10.3390/diagnostics12092053 - 24 Aug 2022

Cited by 9 | Viewed by 3675

Abstract

Background: The most commonly known cardiac effect of gestational diabetes mellitus (GD) in the fetus is hypertrophic cardiomyopathy, but recent studies show that it is preceded by subclinical cardiac dysfunction. This study aimed to assess the effect of GD on fetal cardiac geometry [...] Read more.

Background: The most commonly known cardiac effect of gestational diabetes mellitus (GD) in the fetus is hypertrophic cardiomyopathy, but recent studies show that it is preceded by subclinical cardiac dysfunction. This study aimed to assess the effect of GD on fetal cardiac geometry and contractility by two-dimensional speckle-tracking technology. Methods: We performed a prospective observational study that included 33 pregnant patients with GD and 30 healthy individuals. For all fetuses, a four-chamber 3 s cine-loop was recorded and analyzed with Fetal Heart Quantification (FetalHQ^®), a novel proprietary speckle-tracking software. The following cardiac indices were calculated: global sphericity index (GSI), global longitudinal strain (GLS), fractional area change (FAC), and 24-segment end-diastolic diameter (EDD), fractional shortening (FS), and sphericity index (SI) for both ventricles. Demographic and cardiac differences between the two groups were analyzed, as well as intra-rater and inter-rater reliability. Results: There were significant changes in right ventricular FAC and FS for segments 4–24 in fetuses exposed to GD (−1 SD, p < 0.05). No significant differences were detected for GSI, GLS, EDD, or SI for either ventricle. Conclusions: Fetuses exposed to GD present impaired right ventricular contractility, especially in the mid and apical segments. Full article

(This article belongs to the Special Issue Maternal-Fetal Medicine)

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11 pages, 463 KiB

Open AccessArticle

The Effect of Physical Exercise on Oxidation Capacity and Utero-Placental Circulation in Pregnancies with Gestational Diabetes Mellitus and Uncomplicated Pregnancies, a Pilot Study

by Christos Chatzakis, Alexandros Sotiriadis, Ioannis G. Fatouros, Athanasios Z. Jamurtas, Chariklia K. Deli, Maria Papagianni, Konstantinos Dinas and George Mastorakos

Diagnostics 2022, 12(7), 1732; https://doi.org/10.3390/diagnostics12071732 - 16 Jul 2022

Cited by 6 | Viewed by 1914

Abstract

Background: Gestational diabetes mellitus (GDM) is associated with aggravated oxidation capacity and utero-placental circulation, while aerobic exercise could improve both. The study aims to assess oxidation capacity and utero-placental circulation before and after a bout of aerobic exercise in GDM and uncomplicated pregnancies.; [...] Read more.

Background: Gestational diabetes mellitus (GDM) is associated with aggravated oxidation capacity and utero-placental circulation, while aerobic exercise could improve both. The study aims to assess oxidation capacity and utero-placental circulation before and after a bout of aerobic exercise in GDM and uncomplicated pregnancies.; Methods: In this cross-sectional study, women with GDM (GDMs) and women with uncomplicated pregnancies(controls), underwent 30 min of moderate intensity cycling. Total antioxidant capacity (TAC), catalase activity (CAT), reduced glutathione (GSH), Uterine Arteries (UtA PI) and Umbilical Artery (UmA PI) pulsatility indexes were estimated prior-to, immediately after and one hour after exercise; Results: In each group, 25 pregnant women were included. In both groups, between prior-to and immediately after exercise, TAC and CAT increased, while GSH decreased, (p < 0.001). In GDMs, CAT was lower than controls at any time point (p < 0.05), while in GDMs delta(Δ) CAT (prior-to and immediately after exercise) was lower than controls (p = 0.003). In GDMs, UtA PI centiles decreased between prior-to and either immediately or one hour after exercise, while they did not change in controls. In GDMs, pre-conceptional BMI and weight gain predicted negatively ΔTAC (prior-to to one hour after exercise); Conclusions: Moderate intensity exercise bout improves oxidation capacity in GDM and uncomplicated pregnancies, although at a lesser extent in the former. Exercise leads to decreased UtA arteries resistance in women with GDM. Full article

(This article belongs to the Special Issue Maternal-Fetal Medicine)

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23 pages, 10775 KiB

Open AccessArticle

Detection of Embryonic Trisomy 21 in the First Trimester Using Maternal Plasma Cell-Free RNA

by Carl P. Weiner, Mark L. Weiss, Helen Zhou, Argyro Syngelaki, Kypros H. Nicolaides and Yafeng Dong

Diagnostics 2022, 12(6), 1410; https://doi.org/10.3390/diagnostics12061410 - 7 Jun 2022

Cited by 5 | Viewed by 2309

Abstract

Prenatal trisomy 21 (T21) screening commonly involves testing a maternal blood sample for fetal DNA aneuploidy. It is reliable but poses a cost barrier to universal screening. We hypothesized maternal plasma RNA screening might provide similar reliability but at a lower cost. Discovery [...] Read more.

Prenatal trisomy 21 (T21) screening commonly involves testing a maternal blood sample for fetal DNA aneuploidy. It is reliable but poses a cost barrier to universal screening. We hypothesized maternal plasma RNA screening might provide similar reliability but at a lower cost. Discovery experiments used plasma cell-free RNA from 20 women 11–13 weeks tested by RNA and miRNA microarrays followed by qRT-PCR. Thirty-six mRNAs and 18 small RNAs of the discovery cDNA were identified by qPCR as potential markers of embryonic T21. The second objective was validation of the RNA predictors in 998 independent pregnancies at 11–13 weeks including 50 T21. Initial analyses identified 9–15 differentially expressed RNA with modest predictive power (AUC < 0.70). The 54 RNAs were then subjected to machine learning. Eleven algorithms were trained on one partition and tested on an independent partition. The three best algorithms were identified by Kappa score and the effects of training/testing partition size and dataset class imbalance on prediction were evaluated. Six to ten RNAs predicted T21 with AUCs up to 1.00. The findings suggest that maternal plasma collected at 11–13 weeks, tested by qRT-PCR, and classified by machine learning, may accurately predict T21 for a lower cost than plasma DNA, thus opening the door to universal screening. Full article

(This article belongs to the Special Issue Maternal-Fetal Medicine)

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10 pages, 556 KiB

Open AccessArticle

Prevalence of Gestational Diabetes in preCOVID-19 and COVID-19 Years and Its Impact on Pregnancy: A 5-Year Retrospective Study

by Sorina Chelu, Elena Bernad, Marius Craina, Radu Neamtu, Adelina Geanina Mocanu, Corina Vernic, Veronica Daniela Chiriac, Larisa Tomescu and Claudia Borza

Diagnostics 2022, 12(5), 1241; https://doi.org/10.3390/diagnostics12051241 - 16 May 2022

Cited by 8 | Viewed by 2127

Abstract

Gestational diabetes mellitus (GDM) affects a total of 3% to 9% of all pregnancies. It has a high impact on both mother and baby, increases the perinatal risks, and predicts the presence of long-term chronic metabolic complications. The aim of our study is [...] Read more.

Gestational diabetes mellitus (GDM) affects a total of 3% to 9% of all pregnancies. It has a high impact on both mother and baby, increases the perinatal risks, and predicts the presence of long-term chronic metabolic complications. The aim of our study is to determine the incidence of GDM in tertiary hospitals in the west part of Romania to lay out the risk factors associated with GDM and to observe the evolution of pregnancy among patients with this pathology by emphasizing the state of birth of the fetus, the birth weight, and the way of birth. We also want to compare the prevalence of GDM in preCOVID-19 (Coronavirus disease) versus COVID-19 years. The study took place between January 2017 and December 2021 at the Municipal Emergency Hospital of Timisoara, Romania. The proportion of births with GDM was significantly increased during the COVID-19 period compared to the preCOVID-19 period (chi2 Fisher exact test, p < 0.001). The period 2020–2021 represents a significant risk factor for GDM births (OR = 1.87, with 95% CI = [1.30, 2.67]). COVID years represent a risk period for developing gestational diabetes, which can be explained by reduced physical activity, anxiety, or modified dietary habits, even if the follow-up period was not impacted. Full article

(This article belongs to the Special Issue Maternal-Fetal Medicine)

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15 pages, 685 KiB

Open AccessArticle

Physical Health, Media Use, Stress, and Mental Health in Pregnant Women during the COVID-19 Pandemic

by Makarios Eleftheriades, Eleni Vousoura, Anna Eleftheriades, Panagiota Pervanidou, Iannis M. Zervas, George Chrousos, Nikolaos F. Vlahos and Alexandros Sotiriadis

Diagnostics 2022, 12(5), 1125; https://doi.org/10.3390/diagnostics12051125 - 1 May 2022

Cited by 4 | Viewed by 3351

Abstract

Background: The COVID-19 pandemic has led to significant changes in the care of pregnant women and their fetuses. Emerging data show elevated depression and anxiety symptoms among pregnant women. Aims: The purpose of this article is to investigate the psychological and behavioral impact [...] Read more.

Background: The COVID-19 pandemic has led to significant changes in the care of pregnant women and their fetuses. Emerging data show elevated depression and anxiety symptoms among pregnant women. Aims: The purpose of this article is to investigate the psychological and behavioral impact of the COVID-19 pandemic on pregnant women in Greece during the first national lockdown. Methods: We used a cross-sectional, anonymous survey to collect data in two fetal medicine clinics in the largest urban centers of Greece during the months of April and May 2020. The questionnaire was largely based on the CoRonavIruS Health Impact Survey (CRISIS), and assessed sociodemographic characteristics, general health and obstetric data and COVID-19-related worries and life changes. Mood symptoms, substance use and lifestyle behaviors were assessed at two time points (3 months prior to the pandemic and the 2 weeks before taking the survey), while perceived stress was measured with the perceived stress scale (PSS-14). Results: A total of 308 pregnant women (M_age = 34.72), with a mean gestation of 21.19 weeks participated in the study. Over one-third of the women found COVID-19 restrictions stressful, and their highest COVID-19-related worry was having to be isolated from their baby. Mean PSS-14 score was 21.94, suggesting moderate stress. The strongest predictors of stress were physical and mental health status before COVID-19 and having experienced a stressful life event during their pregnancy. Compared to 3 months before the pandemic, women reported higher scores on mood symptoms (p < 0.001), TV use (p = 0.01) and social media use (p = 0.031) in the last 2 weeks before taking the survey. Conclusion: Our study provides important preliminary evidence of the negative impact of the COVID-19 pandemic and the lockdown on pregnant women’s well-being and functioning. Full article

(This article belongs to the Special Issue Maternal-Fetal Medicine)

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13 pages, 793 KiB

Open AccessArticle

Endometriosis and Impaired Placentation: A Prospective Cohort Study Comparing Uterine Arteries Doppler Pulsatility Index in Pregnancies of Patients with and without Moderate-Severe Disease

by Noemi Salmeri, Antonio Farina, Massimo Candiani, Carolina Dolci, Giulia Bonavina, Caterina Poziello, Paola Viganò and Paolo Ivo Cavoretto

Diagnostics 2022, 12(5), 1024; https://doi.org/10.3390/diagnostics12051024 - 19 Apr 2022

Cited by 15 | Viewed by 2227

Abstract

The aim of this study was to evaluate if moderate-severe endometriosis impairs uterine arteries pulsatility index (UtA-PI) during pregnancy when compared to unaffected controls. In this prospective cohort study, pregnant women with stage III–IV endometriosis according to the revised American Fertility Society (r-AFS) [...] Read more.

The aim of this study was to evaluate if moderate-severe endometriosis impairs uterine arteries pulsatility index (UtA-PI) during pregnancy when compared to unaffected controls. In this prospective cohort study, pregnant women with stage III–IV endometriosis according to the revised American Fertility Society (r-AFS) classification were matched for body mass index and parity in a 1:2 ratio with unaffected controls. UtA-PIs were assessed at 11–14, 19–22 and 26–34 weeks of gestation following major reference guidelines. A General Linear Model (GLM) was implemented to evaluate the association between endometriosis and UtA-PI Z-scores. Significantly higher third trimester UtA-PI Z-scores were observed in patients with r-AFS stage III–IV endometriosis when compared to controls (p = 0.024). In the GLM, endometriosis (p = 0.026) and maternal age (p = 0.007) were associated with increased third trimester UtA-PI Z-scores, whereas conception by in-vitro fertilization with frozen-thawed embryo transfer significantly decreased UtA-PI measures (p = 0.011). According to these results, r-AFS stage III–IV endometriosis is associated with a clinically measurable impaired late placental perfusion. Closer follow-up may be recommended in pregnant patients affected by moderate-severe endometriosis in order to attempt prediction and prevention of adverse pregnancy and perinatal outcomes due to a defective late placental perfusion. Full article

(This article belongs to the Special Issue Maternal-Fetal Medicine)

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17 pages, 20651 KiB

Open AccessArticle

Prenatal Diagnosis and Outcome of Umbilical–Portal–Systemic Venous Shunts: Experience of a Tertiary Center and Proposal for a New Complex Type

by Rodica Daniela Nagy and Dominic Gabriel Iliescu

Diagnostics 2022, 12(4), 873; https://doi.org/10.3390/diagnostics12040873 - 31 Mar 2022

Cited by 7 | Viewed by 4518

Abstract

Aims: To share our experience in the prenatal diagnosis of umbilical–portal–systemic venous shunts (UPSVS) and to study the prognostic factors for proper prenatal and perinatal management. Material and Methods: A five-year prospective study regarding the detection of UPSVS was conducted in [...] Read more.

Aims: To share our experience in the prenatal diagnosis of umbilical–portal–systemic venous shunts (UPSVS) and to study the prognostic factors for proper prenatal and perinatal management. Material and Methods: A five-year prospective study regarding the detection of UPSVS was conducted in two referral centers, Medgin Ginecho Clinic and the Prenatal Diagnostic Unit of the tertiary center, University Emergency County Hospital Craiova, Romania. We included in the analysis a series of agenesis of ductus venosus (ADV) cases previously reported by our center. We analyzed the incidence of the UPSVS types, their associations, and outcome predictors. Results: UPSVS were diagnosed in all 16 cases that were presented to our center at the time of first trimester anomaly scan, except one (94.12%). We diagnosed: 19 type I (61.2%), 4 type II (12.9%) and 5 type IIIa (16.1%) UPSVS. In three cases (9.6%) we noted multiple shunts, which we referred to as type IV (a new UPSVS type). Type IIIa-associated fetal growth restriction (FGR) was found in 60% of cases. Major anomalies worsened the outcome. Of the UPVSS cases, 57.1% were associated with PVS anomalies. Genetic anomalies were present in 40% of the tested cases. Conclusions: The incidence of UPSVS in our study was 0.2%. Early detection is feasible. The postnatal outcome mainly depends on the presence of structural, genetic and PVS anomalies. FGR may be associated. The new category presented a poor outcome secondary to poor hemodynamic and major associated anomalies. Full article

(This article belongs to the Special Issue Maternal-Fetal Medicine)

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12 pages, 797 KiB

Open AccessArticle

Transmitted Fetal Immune Response in Cases of SARS-CoV-2 Infections during Pregnancy

by Ernesto González-Mesa, Eduardo García-Fuentes, Rafael Carvia-Pontiasec, Ana I. Lavado-Fernández, Celia Cuenca-Marín, María Suárez-Arana, Marta Blasco-Alonso, Blanca Benítez-Lara, Laura Mozas-Benítez, Ana González-Cazorla, Herink Egeberg-Neverdal and Jesús S. Jiménez-López

Diagnostics 2022, 12(2), 245; https://doi.org/10.3390/diagnostics12020245 - 19 Jan 2022

Cited by 7 | Viewed by 2378

Abstract

(1) Background: Little is known about the effects of SARS-CoV-2 on the placenta, and whether the maternal inflammatory response is transmitted vertically. This research aims to provide information about the effects of SARS-CoV-2 infection on maternal and fetal immunity. (2) Methods: We have [...] Read more.

(1) Background: Little is known about the effects of SARS-CoV-2 on the placenta, and whether the maternal inflammatory response is transmitted vertically. This research aims to provide information about the effects of SARS-CoV-2 infection on maternal and fetal immunity. (2) Methods: We have studied placental changes and humoral and cellular immunity in maternal and umbilical cord blood (UCB) samples from a group of pregnant women delivering after the diagnosis of SARS-CoV-2 infection during pregnancy. IgG and IgM SARS-CoV-2 antibodies, Interleukin 1b (IL1b), Interleukin 6 (IL6), and gamma-Interferon (IFN-γ), have been studied in the UCB samples. Lymphocyte subsets were studied according to CD3, CD8, CD4, CD34, and invariant natural Killer T cells (iNKT) markers. We used in situ hybridization techniques for the detection of viral RNA in placentas. (3) Results: During the study period, 79 pregnant women and their corresponding newborns were recruited. The main gestational age at the time of delivery was 39.1 weeks (SD 1.3). We did not find traces of the SARS-CoV-2 virus RNA in any of the analyzed placental samples. Detectable concentrations of IgG anti-SARS-CoV-2 antibodies, IL1b, IL6, and IFN-γ, in UCB were found in all cases, but IgM antibodies anti-ARS-CoV-2 were systematically undetectable. We found significant correlations between fetal CD3+ mononuclear cells and UCB IgG concentrations. We also found significant correlations between UCB IgG concentrations and fetal CD3+/CD4+, as well as CD3+/CD8+ T cells subsets. We also discovered that fetal CD3+/CD8+ cell counts were significantly higher in those cases with placental infarctions. (4) Conclusion: we have not verified the placental transfer of SARS-CoV-2. However, we have discovered that a significant immune response is being transmitted to the fetus in cases of SARS-CoV-2 maternal infection. Full article

(This article belongs to the Special Issue Maternal-Fetal Medicine)

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12 pages, 830 KiB

Open AccessArticle

Abnormal Circulating Maternal miRNA Expression Is Associated with a Low (<4%) Cell-Free DNA Fetal Fraction

by Graziano Santoro, Cristina Lapucci, Marco Giannoccaro, Simona Caporilli, Martina Rusin, Anna Seidenari, Maurizio Ferrari and Antonio Farina

Diagnostics 2021, 11(11), 2108; https://doi.org/10.3390/diagnostics11112108 - 14 Nov 2021

Cited by 5 | Viewed by 2465

Abstract

The present pilot study investigates whether an abnormal miRNA profile in NIPT plasma samples can explain the finding of a low cell-free DNA (cfDNA) fetal fraction (cfDNAff) in euploid fetuses and non-obese women. Twelve women who underwent neoBona^® NIPT with a normal [...] Read more.

The present pilot study investigates whether an abnormal miRNA profile in NIPT plasma samples can explain the finding of a low cell-free DNA (cfDNA) fetal fraction (cfDNAff) in euploid fetuses and non-obese women. Twelve women who underwent neoBona^® NIPT with a normal fetal karyotype were studied. Six with a cfDNAff < 4% were matched with a control group with normal levels of cfDNAff > 4%. Samples were processed using the nanostring nCounter^® platform with a panel of 800 miRNAs. Four of the maternal miRNAs, miR-579, miR-612, miR-3144 and miR-6721, had a significant abnormal expression in patients. A data filtering analysis showed that miR-579, miR-612, miR-3144 and miR-6721 targeted 169, 1, 48 and 136 placenta-specific genes, respectively. miR-579, miR-3144 and miR-6721 shared placenta-specific targeted genes involved in trophoblast invasion and migration pathways (IGF2R, PTCD2, SATB2, PLAC8). Moreover, the miRNA target genes encoded proteins localized in the placenta and involved in the pathogenesis of pre-eclampsia, including chorion-specific transcription factor GCMa, PRG2, Lin-28 Homolog B and IGFBP1. In conclusion, aberrant maternal miRNA expression in circulating plasma could be a source of dysregulating trophoblast invasion and migration and could represent a novel cause of a low cfDNAff in the sera of pregnant women at the time of NIPT analysis. Full article

(This article belongs to the Special Issue Maternal-Fetal Medicine)

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8 pages, 1297 KiB

Open AccessArticle

AUditive Direct in Utero Observation (AUDIO): A Randomized Controlled Trial for a Prenatal Demonstration of Fetal Hearing

by Laura Larcher, Antonio Farina, Danila Morano, Nadia Rimondi, Vincenza Leccese and Elena Contro

Diagnostics 2021, 11(11), 2026; https://doi.org/10.3390/diagnostics11112026 - 2 Nov 2021

Viewed by 3210

Abstract

Introduction: The objective of this randomized controlled study was to demonstrate whether acoustic stimulation in utero is associated with fetal reactivity which is documentable by cardiotocography. Materials and methods: A monocentric randomized controlled trial was performed at a single university tertiary hospital between [...] Read more.

Introduction: The objective of this randomized controlled study was to demonstrate whether acoustic stimulation in utero is associated with fetal reactivity which is documentable by cardiotocography. Materials and methods: A monocentric randomized controlled trial was performed at a single university tertiary hospital between September 2016 and July 2017. This study was registered as a randomized clinical trial on clinicaltrail.gov (registration number NCT04622059). Unselected pregnancies at term of gestation were consecutively recruited for the purpose of this study. After 10 min of normal cardiotocography without accelerations (non-stress-test with a basal frequency between 110 and 150 beats/min, normal variability between 6 and 15 b/min, no accelerations, and no fetal movements), fetuses were randomized at a 1:1 ratio to either of the two groups. Fetuses in group A (n = 105) received acoustic stimulation after 10 min from the beginning of the CTG, whereas fetuses in group B received no stimulation (n = 105). The outcome variables investigated were the lapse of time between the beginning of the CTG and the occurrence of the first acceleration, and the lapse of time between the beginning of the CTG and the first fetal movement noticed. Results: The lapse of time between the beginning of the CTG and the occurrence of the first acceleration was significantly shorter in the group with acoustic stimulation compared to the other group (14.87 ± 5.01 vs. 21.90 ± 6.94 min, p-value < 0.001 log-rank test). Similarly, the lapse of time between the beginning of the CTG and the occurrence of the first fetal movement was significantly shorter in group A compared to group B (17.77 ± 7.62 vs. 23.28 ± 7.61 min, p-value < 0.001, log-rank test). Fetal cardiac acceleration and the occurrence of a fetal movement during the first 20 min of the CTG were more frequently recorded in group A compared to group B (respectively, 15% vs. 5% and 20% vs. 8%). Conclusion: This RCT showed an early fetal reaction following auditive stimulus, documentable by cardiotocography. Further research is needed to investigate a possible role of acoustic stimulation in utero for the prenatal diagnosis of congenital hypoacusis. Full article

(This article belongs to the Special Issue Maternal-Fetal Medicine)

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12 pages, 1515 KiB

Open AccessArticle

Predictors of Newborn’s Weight for Height: A Machine Learning Study Using Nationwide Multicenter Ultrasound Data

by Ki Hoon Ahn, Kwang-Sig Lee, Se Jin Lee, Sung Ok Kwon, Sunghun Na, Kyongjin Kim, Hye Sim Kang, Kyung A Lee, Hye-Sung Won, Moon Young Kim, Han Sung Hwang, Mi Hye Park and Korean Society of Ultrasound in Obstetrics Gynecology Research Group

Diagnostics 2021, 11(7), 1280; https://doi.org/10.3390/diagnostics11071280 - 16 Jul 2021

Cited by 4 | Viewed by 2716

Abstract

There has been no machine learning study with a rich collection of clinical, sonographic markers to compare the performance measures for a variety of newborns’ weight-for-height indicators. This study compared the performance measures for a variety of newborns’ weight-for-height indicators based on machine [...] Read more.

There has been no machine learning study with a rich collection of clinical, sonographic markers to compare the performance measures for a variety of newborns’ weight-for-height indicators. This study compared the performance measures for a variety of newborns’ weight-for-height indicators based on machine learning, ultrasonographic data and maternal/delivery information. The source of data for this study was a multi-center retrospective study with 2949 mother–newborn pairs. The mean-squared-error-over-variance measures of five machine learning approaches were compared for newborn’s weight, newborn’s weight/height, newborn’s weight/height² and newborn’s weight/hieght³. Random forest variable importance, the influence of a variable over average node impurity, was used to identify major predictors of these newborns’ weight-for-height indicators among ultrasonographic data and maternal/delivery information. Regarding ultrasonographic fetal biometry, newborn’s weight, newborn’s weight/height and newborn’s weight/height² were better indicators with smaller mean-squared-error-over-variance measures than newborn’s weight/height³. Based on random forest variable importance, the top six predictors of newborn’s weight were the same as those of newborn’s weight/height and those of newborn’s weight/height²: gestational age at delivery time, the first estimated fetal weight and abdominal circumference in week 36 or later, maternal weight and body mass index at delivery time, and the first biparietal diameter in week 36 or later. These six predictors also ranked within the top seven for large-for-gestational-age and the top eight for small-for-gestational-age. In conclusion, newborn’s weight, newborn’s weight/height and newborn’s weight/height² are more suitable for ultrasonographic fetal biometry with smaller mean-squared-error-over-variance measures than newborn’s weight/height³. Machine learning with ultrasonographic data would be an effective noninvasive approach for predicting newborn’s weight, weight/height and weight/height². Full article

(This article belongs to the Special Issue Maternal-Fetal Medicine)

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11 pages, 1105 KiB

Open AccessArticle

Influence of Cerebral Vasodilation on Blood Reelin Levels in Growth Restricted Fetuses

by Jara Pascual-Mancho, Pilar Pintado-Recarte, Carlos Romero-Román, Jorge C. Morales-Camino, Concepción Hernández-Martin, Julia Bujan, Miguel A. Ortega and Juan De León-Luis

Diagnostics 2021, 11(6), 1036; https://doi.org/10.3390/diagnostics11061036 - 4 Jun 2021

Cited by 2 | Viewed by 2156

Abstract

Fetal growth restriction (FGR) is one of the most important obstetric pathologies. It is frequently caused by placental insufficiency. Previous studies have shown a relationship between FGR and impaired new-born neurodevelopment, although the molecular mechanisms involved in this association have not yet been [...] Read more.

Fetal growth restriction (FGR) is one of the most important obstetric pathologies. It is frequently caused by placental insufficiency. Previous studies have shown a relationship between FGR and impaired new-born neurodevelopment, although the molecular mechanisms involved in this association have not yet been completely clarified. Reelin is an extracellular matrix glycoprotein involved in development of neocortex, hippocampus, cerebellum and spinal cord. Reelin has been demonstrated to play a key role in regulating perinatal neurodevelopment and to contribute to the emergence and development of various psychiatric pathologies, and its levels are highly influenced by pathological conditions of hypoxia. The purpose of this article is to study whether reelin levels in new-borns vary as a function of severity of fetal growth restriction by gestational age and sex. We sub-grouped fetuses in: normal weight group (Group 1, n = 17), FGR group with normal umbilical artery Doppler and cerebral redistribution at middle cerebral artery Doppler (Group 2, n = 9), and FGR with abnormal umbilical artery Doppler (Group 3, n = 8). Our results show a significant association of elevated Reelin levels in FGR fetuses with cerebral blood redistribution compared to the normal weight group and the FGR with abnormal umbilical artery group. Future research should focus on further expanding the knowledge of the relationship of reelin and its regulated products with neurodevelopment impairment in new-borns with FGR and should include larger and more homogeneous samples and the combined use of different in vivo techniques in neonates with impaired growth during their different adaptive phases. Full article

(This article belongs to the Special Issue Maternal-Fetal Medicine)

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11 pages, 2544 KiB

Open AccessArticle

Prenatal Screening for Developmental Displacement of the Hip: The BUDDHA (Pre-Birth Ultrasound for Developmental Displacement of the Hip Assessment) Study

by Elena Contro, Laura Larcher, Jacopo Lenzi, Arianna Benfenati, Giulia Massinissa Magini, Giulia Galeati, Maria Terrone, Silvia Galletti, Santo Arcuri, Anna Seidenari and Antonio Farina

Diagnostics 2021, 11(5), 868; https://doi.org/10.3390/diagnostics11050868 - 12 May 2021

Cited by 4 | Viewed by 2091

Abstract

Background: developmental dysplasia of the hip has an incidence of 3–5 out of 1000 children. Currently, only postnatal screening is available. Objective: to test the feasibility of a method based on Graf technique application at antenatal ultrasound in assessing the normal development of [...] Read more.

Background: developmental dysplasia of the hip has an incidence of 3–5 out of 1000 children. Currently, only postnatal screening is available. Objective: to test the feasibility of a method based on Graf technique application at antenatal ultrasound in assessing the normal development of the hip in unselected term fetuses. Methods: a prospective cohort study in a single university tertiary hospital from January 2017 to January 2020. Single uncomplicated term pregnancies (37–40 weeks) attending our center for routine ultrasound were consecutively recruited for the purpose of the study. A 3D volume acquisition was launched on the coxofemoral joint of the fetus by a single expert operator, and offline analysis was then performed in the multiplanar mode by two operators (blinded to each other analysis) in order to measure the alpha and beta angles according to our modified Graf technique. Intra- and inter-observer variations were calculated. Reference charts for normal values of both angles were produced. Postnatal ultrasound was then performed to measure the Graf angles in newborns, confirming a normal development of the hip. Results: in the study period, 433 uncomplicated term pregnancies underwent 3D ultrasound for the assessment of the fetal hip. One case was subsequently excluded because of confirmed postnatal diagnosis of developmental dysplasia of the hip. The measurement of our modified Graf angles was feasible at prenatal ultrasound with a good reproducibility. The inter-rater and intra-rater reliability of both angles was substantial. Reference charts for normal values of both angles were produced. Conclusions: the evaluation of the coxofemoral joint in fetuses at term of gestation has never been attempted before. The Graf technique application, currently employed at postnatal ultrasound, may also be adapted to prenatal ultrasound with a substantial reproducibility. However, there was no evidence of a linear relationship between prenatal and postnatal alpha angles and beta angles. Further research is needed to establish if developmental dysplasia of the hip could be diagnosed antenatally. Full article

(This article belongs to the Special Issue Maternal-Fetal Medicine)

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10 pages, 638 KiB

Open AccessArticle

Risk Minimization of Hemolytic Disease of the Fetus and Newborn Using Droplet Digital PCR Method for Accurate Fetal Genotype Assessment of RHD, KEL, and RHCE from Cell-Free Fetal DNA of Maternal Plasma

by Radek Vodicka, Jana Bohmova, Iva Holuskova, Eva Krejcirikova, Martin Prochazka and Radek Vrtel

Diagnostics 2021, 11(5), 803; https://doi.org/10.3390/diagnostics11050803 - 28 Apr 2021

Viewed by 2558

Abstract

The molecular pathology of hemolytic disease of the fetus and newborn (HDFN) is determined by different RHD, RHCE, and KEL genotypes and by blood group incompatibility between the mother and fetus that is caused by erythrocyte antigen presence/absence on the cell [...] Read more.

The molecular pathology of hemolytic disease of the fetus and newborn (HDFN) is determined by different RHD, RHCE, and KEL genotypes and by blood group incompatibility between the mother and fetus that is caused by erythrocyte antigen presence/absence on the cell surface. In the Czech Republic, clinically significant antierythrocyte alloantibodies include anti-D, anti-K, anti C/c, and anti-E. Deletion of the RHD gene and then three single nucleotide polymorphisms in the RHCE and KEL genes (rs676785, rs609320, and rs8176058) are the most common. The aim of this study is to develop effective and precise monitoring of fetal genotypes from maternal plasma of these polymorphisms using droplet digital (dd)PCR. Fifty-three plasma DNA samples (from 10 to 18 weeks of gestation) were analyzed (10 RHD, 33 RHCE, and 10 KEL). The ddPCR methodology was validated on the basis of the already elaborated and established method of minisequencing and real-time PCR and with newborn phenotype confirmation. The results of ddPCR were in 100% agreement with minisequencing and real-time PCR and also with newborn phenotype. ddPCR can fully replace the reliable but more time-consuming method of minisequencing and real-time PCR RHD examination. Accurate and rapid noninvasive fetal genotyping minimizes the possibility of HDFN developing. Full article

(This article belongs to the Special Issue Maternal-Fetal Medicine)

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Review

Jump to: Research, Other

11 pages, 995 KiB

Open AccessReview

A Systematic Review of Methodology Used in Studies Aimed at Creating Charts of Fetal Brain Structures

by Vera Donadono, Angelo Cavallaro, Nia W. Roberts, Christos Ioannou, Aris T. Papageorghiou and Raffaele Napolitano

Diagnostics 2021, 11(6), 916; https://doi.org/10.3390/diagnostics11060916 - 21 May 2021

Cited by 6 | Viewed by 2335

Abstract

Ultrasound-based assessment of the fetal nervous system is routinely recommended at the time of the mid-trimester anatomy scan or at different gestations based on clinical indications. This review evaluates the methodological quality of studies aimed at creating charts for fetal brain structures obtained [...] Read more.

Ultrasound-based assessment of the fetal nervous system is routinely recommended at the time of the mid-trimester anatomy scan or at different gestations based on clinical indications. This review evaluates the methodological quality of studies aimed at creating charts for fetal brain structures obtained by ultrasound, as poor methodology could explain substantial variability in percentiles reported. Electronic databases (MEDLINE, EMBASE, Cochrane Library, and Web of Science) were searched from January 1970 to January 2021 to select studies on singleton fetuses, where the main aim was to construct charts on one or more clinically relevant structures obtained in the axial plane: parieto-occipital fissure, Sylvian fissure, anterior ventricle, posterior ventricle, transcerebellar diameter, and cisterna magna. Studies were scored against 29 predefined methodological quality criteria to identify the risk of bias. In total, 42 studies met the inclusion criteria, providing data for 45,626 fetuses. Substantial heterogeneity was identified in the methodological quality of included studies, and this may explain the high variability in centiles reported. In 80% of the studies, a high risk of bias was found in more than 50% of the domains scored. In conclusion, charts to be used in clinical practice and research should have an optimal study design in order to minimise the risk of bias and to allow comparison between different studies. We propose to use charts from studies with the highest methodological quality. Full article

(This article belongs to the Special Issue Maternal-Fetal Medicine)

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Other

Jump to: Research, Review

12 pages, 272 KiB

Open AccessSystematic Review

Evaluating the Effectiveness of Pharmacological Strategies and Further Measures for Pain Relief during Hysterosonosalpingography: A Systematic Review

by Arianna Riva, Amerigo Vitagliano, Marco Noventa, Giovanni Buzzaccarini, Gianluca Raffaello Damiani, Antonella Vimercati, Danila Morano, Cristina Taliento, Pantaleo Greco, Ettore Cicinelli and Gennaro Scutiero

Diagnostics 2022, 12(12), 3185; https://doi.org/10.3390/diagnostics12123185 - 16 Dec 2022

Cited by 2 | Viewed by 1610

Abstract

This systematic review aims to evaluate the effectiveness of pharmacological and non-pharmacological strategies for pain relief in women during contrast-enhanced ultrasound for the assessment of tubal patency and uterine disease, compared with placebo or no intervention. In December 2021, we searched the electronic [...] Read more.

This systematic review aims to evaluate the effectiveness of pharmacological and non-pharmacological strategies for pain relief in women during contrast-enhanced ultrasound for the assessment of tubal patency and uterine disease, compared with placebo or no intervention. In December 2021, we searched the electronic databases (Pubmed, Embase, Sciencedirect, the Cochrane library and Clinicaltrials.gov) without date restriction: We identified 10 randomized control trials (RCTs) (2098 women) eligible for this systematic review, after applying our inclusion and exclusion criteria. Among these, five studies compared the use of painkillers with the placebo, two studies compared different catheter positions in the cervix or in the uterine cavity, and two others considered different temperatures of the contrast medium, as a method to reduce pain. Topical lidocaine applied before the procedure may be associated with effective pain relief during hysterosonography, though the quality of this evidence is low. New echogenic contrast agents and their temperature at 37 °C ensure a less painful procedure. There is insufficient evidence to draw conclusions on the efficacy of other analgesics or strategies. Full article

(This article belongs to the Special Issue Maternal-Fetal Medicine)

10 pages, 670 KiB

Open AccessCase Report

Non-Invasive Prenatal Screening: The First Report of Pentasomy X Detected by Plasma Cell-Free DNA and Karyotype Analysis

by Luigia De Falco, Teresa Suero, Giovanni Savarese, Pasquale Savarese, Raffaella Ruggiero, Antonella Di Carlo, Mariasole Bruno, Nadia Petrillo, Monica Ianniello, Ciro Scarpato, Camilla Sarli and Antonio Fico

Diagnostics 2022, 12(7), 1591; https://doi.org/10.3390/diagnostics12071591 - 29 Jun 2022

Cited by 2 | Viewed by 2136

Abstract

Pentasomy X is a sex chromosome anomaly caused by the presence of three extra X chromosomes in females (49,XXXXX instead of 46,XX) and is probably due to a nondisjunction during the meiosis. So far, only five cases prenatally diagnosed were described. The main [...] Read more.

Pentasomy X is a sex chromosome anomaly caused by the presence of three extra X chromosomes in females (49,XXXXX instead of 46,XX) and is probably due to a nondisjunction during the meiosis. So far, only five cases prenatally diagnosed were described. The main features in 49,XXXXX karyotype include severe intellectual disability with delayed speech development, short stature, facial dysmorphisms, osseous and articular abnormalities, congenital heart malformations, and skeletal and limb abnormalities. Prenatal diagnosis is often difficult due to the lack of a clear echographic sign like nuchal translucency (NT), and mostly cases were postnatally described. We report the first case of a 49,XXXXX female that was detected by non-invasive prenatal screening (NIPS), quantitative fluorescence polymerase chain reaction (QF-PCR) and a fetal karyotype. Full article

(This article belongs to the Special Issue Maternal-Fetal Medicine)

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20 pages, 1331 KiB

Open AccessSystematic Review

Chromosomal Microarray Analysis in Fetuses Detected with Isolated Cardiovascular Malformation: A Multicenter Study, Systematic Review of the Literature and Meta-Analysis

by Gioia Mastromoro, Nader Khaleghi Hashemian, Daniele Guadagnolo, Maria Grazia Giuffrida, Barbara Torres, Laura Bernardini, Flavia Ventriglia, Gerardo Piacentini and Antonio Pizzuti

Diagnostics 2022, 12(6), 1328; https://doi.org/10.3390/diagnostics12061328 - 27 May 2022

Cited by 4 | Viewed by 2933

Abstract

Cardiovascular malformations (CVM) represent the most common structural anomalies, occurring in 0.7% of live births. The CVM prenatal suspicion should prompt an accurate investigation with fetal echocardiography and the assessment through genetic counseling and testing. In particular, chromosomal microarray analysis (CMA) allows the [...] Read more.

Cardiovascular malformations (CVM) represent the most common structural anomalies, occurring in 0.7% of live births. The CVM prenatal suspicion should prompt an accurate investigation with fetal echocardiography and the assessment through genetic counseling and testing. In particular, chromosomal microarray analysis (CMA) allows the identification of copy number variations. We performed a systematic review and meta-analysis of the literature, studying the incremental diagnostic yield of CMA in fetal isolated CVM, scoring yields for each category of heart disease, with the aim of guiding genetic counseling and prenatal management. At the same time, we report 59 fetuses with isolated CVM with normal karyotype who underwent CMA. The incremental CMA diagnostic yield in fetuses with isolated CVM was 5.79% (CI 5.54–6.04), with conotruncal malformations showing the higher detection rate (15.93%). The yields for ventricular septal defects and aberrant right subclavian artery were the lowest (2.64% and 0.66%). Other CVM ranged from 4.42% to 6.67%. In the retrospective cohort, the diagnostic yield was consistent with literature data, with an overall CMA diagnostic yield of 3.38%. CMA in the prenatal setting was confirmed as a valuable tool for investigating the causes of fetal cardiovascular malformations. Full article

(This article belongs to the Special Issue Maternal-Fetal Medicine)

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Graphical abstract

13 pages, 1622 KiB

Open AccessSystematic Review

Routine Tracheal Intubation and Meconium Suctioning in Non-Vigorous Neonates with Meconium-Stained Amniotic Fluid: A Systematic Review and Meta-Analysis

by Maria Dikou, Theodoros Xanthos, Ioannis Dimitropoulos, Zoi Iliodromiti, Rozeta Sokou, Georgios Kafalidis, Theodora Boutsikou and Nicoletta Iacovidou

Diagnostics 2022, 12(4), 881; https://doi.org/10.3390/diagnostics12040881 - 1 Apr 2022

Cited by 2 | Viewed by 2789

Abstract

The aim of this systematic review and meta-analysis is the comparison of endotracheal intubation and suctioning to immediate resuscitation without intubation of non-vigorous infants > 34 weeks’ gestation delivered through meconium-stained amniotic fluid (MSAF). Randomized, non-randomized clinical trials and observational studies were included. [...] Read more.

The aim of this systematic review and meta-analysis is the comparison of endotracheal intubation and suctioning to immediate resuscitation without intubation of non-vigorous infants > 34 weeks’ gestation delivered through meconium-stained amniotic fluid (MSAF). Randomized, non-randomized clinical trials and observational studies were included. Data sources were PubMed/Medline and Cochrane Central Registry of Controlled Trials, from 2012 to 2021. Inclusion criteria were non-vigorous infants born through MSAF with gestational age > 34 weeks and sample size ≥ 5. We calculated overall relative risks (RR) and mean differences (MD) with a 95% confidence interval (CI) to determine the impact of endotracheal suction (ETS) in non-vigorous infants born through MSAF. The outcomes presented are the incidence of neonatal mortality, meconium aspiration syndrome (MAS), transient tachypnea, need for positive pressure ventilation, respiratory support, persistent pulmonary hypertension treatment, neonatal infection, ischemic encephalopathy, admission to neonatal intensive care unit (NICU) and the duration of hospitalization between ETS and non-ETS group. Six studies with a total sample of 1026 patients fulfilled the inclusion criteria. Statistically non-significant difference was observed in RR between two groups with regards to mortality (1.22, 95% CI 0.73–2.04), occurrence of MAS (1.08, 95% CI 0.76–1.53) and other outcomes, and MD in hospitalization duration. There is no sufficient evidence to suggest initiating endotracheal suction soon after birth in non-vigorous meconium-stained infants as routine. Full article

(This article belongs to the Special Issue Maternal-Fetal Medicine)

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8 pages, 2435 KiB

Open AccessCase Report

Coexistence of Thumb Aplasia and Cleft Lip and Alveolus with Aortopulmonary Window—A Tip for Prenatal Diagnostics for Rare Heart Anomalies

by Anna Kasielska-Trojan, Barbara Święchowicz and Bogusław Antoszewski

Diagnostics 2022, 12(3), 569; https://doi.org/10.3390/diagnostics12030569 - 23 Feb 2022

Cited by 3 | Viewed by 1884

Abstract

Multiple congenital anomaly syndromes pose a challenge to neonatologists, as many anomalies may indicate cryptogenic malformations or disorders. Aortopulmonary window (APW) is a very rare congenital heart disease (CHD) and causes many difficulties in prenatal diagnostics. In this report, we describe a case [...] Read more.

Multiple congenital anomaly syndromes pose a challenge to neonatologists, as many anomalies may indicate cryptogenic malformations or disorders. Aortopulmonary window (APW) is a very rare congenital heart disease (CHD) and causes many difficulties in prenatal diagnostics. In this report, we describe a case of a female patient with multiple rare congenital malformations: aortopulmonary window, right thumb aplasia, facial nerve palsy and cleft lip and alveolus. None of the malformations were diagnosed prenatally. A long-term follow-up (40 years) is presented. The presence of certain defects (thumb aplasia) may indicate the need for a careful fetal examination extended by a fetal ECHO performed in a reference center of prenatal cardiology. The coexistence or syndromic character of the presented malformations should be verified in future if more such cases are described. Full article

(This article belongs to the Special Issue Maternal-Fetal Medicine)

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17 pages, 735 KiB

Open AccessSystematic Review

Microbial Translocation and Perinatal Asphyxia/Hypoxia: A Systematic Review

by Dimitra-Ifigeneia Matara, Abraham Pouliakis, Theodoros Xanthos, Rozeta Sokou, Georgios Kafalidis, Zoi Iliodromiti, Theodora Boutsikou, Nicoletta Iacovidou and Christos Salakos

Diagnostics 2022, 12(1), 214; https://doi.org/10.3390/diagnostics12010214 - 16 Jan 2022

Cited by 11 | Viewed by 5415

Abstract

The microbiome is vital for the proper function of the gastrointestinal tract (GIT) and the maintenance of overall wellbeing. Gut ischemia may lead to disruption of the intestinal mucosal barrier, resulting in bacterial translocation. In this systematic review, according to PRISMA (Preferred Reporting [...] Read more.

The microbiome is vital for the proper function of the gastrointestinal tract (GIT) and the maintenance of overall wellbeing. Gut ischemia may lead to disruption of the intestinal mucosal barrier, resulting in bacterial translocation. In this systematic review, according to PRISMA (Preferred Reporting Items for Systematic Review and Meta-Analysis) guidelines, we constructed a search query using the PICOT (Patient, Intervention, Comparison, Outcome, Time) framework. Eligible studies reported in PubMed, up to April 2021 were selected, from which, 57 publications’ data were included. According to these, escape of intraluminal potentially harmful factors into the systemic circulation and their transmission to distant organs and tissues, in utero, at birth, or immediately after, can be caused by reduced blood oxygenation. Various factors are involved in this situation. The GIT is a target organ, with high sensitivity to ischemia–hypoxia, and even short periods of ischemia may cause significant local tissue damage. Fetal hypoxia and perinatal asphyxia reduce bowel motility, especially in preterm neonates. Despite the fact that microbiome arouse the interest of scientists in recent decades, the pathophysiologic patterns which mediate in perinatal hypoxia/asphyxia conditions and gut function have not yet been well understood. Full article

(This article belongs to the Special Issue Maternal-Fetal Medicine)

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7 pages, 650 KiB

Open AccessCase Report

Prenatal Noninvasive Trio-WES in a Case of Pregnancy-Related Liver Disorder

by Aldesia Provenzano, Antonio Farina, Anna Seidenari, Francesco Azzaroli, Carla Serra, Anna Della Gatta, Orsetta Zuffardi and Sabrina Rita Giglio

Diagnostics 2021, 11(10), 1904; https://doi.org/10.3390/diagnostics11101904 - 14 Oct 2021

Cited by 4 | Viewed by 1871

Abstract

Liver disease in pregnancy may present as an acute condition related to the gestational period, characterized by pruritus, jaundice, and abnormal liver function. The disease may be misdiagnosed with other liver diseases, some of which may have consequences for fetal health. It is [...] Read more.

Liver disease in pregnancy may present as an acute condition related to the gestational period, characterized by pruritus, jaundice, and abnormal liver function. The disease may be misdiagnosed with other liver diseases, some of which may have consequences for fetal health. It is therefore advisable to implement rapid diagnostic strategies to provide information for the management of pregnancy in these conditions. We report the case of a healthy woman with a twin pregnancy from homologous in vitro fertilization (IVF), who in the third trimester presented jaundice and malaise. Biochemical investigations and liver hyperechogenicity raised the suspicion of acute fatty liver disease of pregnancy (AFLP). Non-invasive prenatal whole-exome sequencing (WES) in the trio identified the Phe305Ile heterozygous variant in the ATP8B1 gene. Considering the twin pregnancy, the percentage of the variant versus the wild allele was of 31%, suggesting heterozygosity present in the mother alone. This analysis showed that the mother was affected by benign recurrent intrahepatic cholestasis of pregnancy (ICP1: # 147480) and indicated the opportunity to anticipate childbirth to avoid worsening of the mother’s health. WES after the birth of the twins confirmed the molecular data. Full article

(This article belongs to the Special Issue Maternal-Fetal Medicine)

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6 pages, 588 KiB

Open AccessCase Report

Dural Sinus Arteriovenous Malformation in the Fetus. Case Report and Discussion of the Literature

by Vlasta Fesslova, Anna Maria Colli, Simona Boito, Isabella Fabietti, Fabio Triulzi and Nicola Persico

Diagnostics 2021, 11(9), 1651; https://doi.org/10.3390/diagnostics11091651 - 9 Sep 2021

Viewed by 2208

Abstract

Sonographic findings of cerebral arteriovenous malformations in the fetus are uncommon and usually regard aneurysm of the Galen vein. Outcome of arteriovenous malformations is usually severe. We report a case of a fetus at 21 weeks’ gestation with a rarer arteriovenous malformation, referred [...] Read more.

Sonographic findings of cerebral arteriovenous malformations in the fetus are uncommon and usually regard aneurysm of the Galen vein. Outcome of arteriovenous malformations is usually severe. We report a case of a fetus at 21 weeks’ gestation with a rarer arteriovenous malformation, referred to us for echocardiography on account of a suspicious cardiomegaly at obstetrical scan. Upon examination, we found cardiomegaly, together with an associated moderate tricuspid regurgitation, however, there were no clear features of tricuspid dysplasia. Considering an unusually dilated superior vena cava, we found via color Doppler imaging a systodiastolic flow at Color Doppler progressing. Subsequent MRI of the central nervous system determined the localization in the sinus dura mater. Due to an already evident hemodynamic impact, the parents opted for the termination of the pregnancy. Autopsy confirmed a voluminous arteriovenous malformation of the transverse sinus of the dura mater, severe cardiomegaly, mainly of the ventricles, and hypoplasia of the lungs. Full article

(This article belongs to the Special Issue Maternal-Fetal Medicine)

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