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A special issue of Diagnostics (ISSN 2075-4418). This special issue belongs to the section "Pathology and Molecular Diagnostics".

Deadline for manuscript submissions: closed (31 October 2020) | Viewed by 59861

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Dr. Paolo Ivo Cavoretto

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Guest Editor

IRCCS San Raffaele Hospital and University, Via Olgettina 62, 20132 Milan, Italy
Interests: obstetrics; pregnancy complications; ultrasound; Doppler; fetal medicine and surgery; MRI; screening in pregnancy; congenital malformations; congenital heart defects; open spina bifida; fetal growth; preterm delivery; preeclampsia; pregnancy after medically assisted reproduction
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Special Issue Information

Dear Colleagues,

The practice of fetal medicine has major implications for individual families as well as for the entire society. Rapid evolution of this branch involves specific subspeciality training and updating in order to provide a high-quality standard of care. The aim of this Special Issue of Diagnostics is to explore recent advances and developments in fetal medicine, including early diagnosis of fetal abnormalities, screening and diagnosis for chromosomal defects and genetic syndromes, intrauterine fetal surgery, prediction and prevention of preeclampsia, preterm birth, stillbirth, prediction and management of abnormal fetal growth, obstetric problems of multiple pregnancies, and medically assisted reproduction. Submissions of original unpublished studies are welcome, including observational and interventional studies as well as RCTs and reviews, with an emphasis on relevant clinical questions and quantitative syntheses (meta-analyses) of pooled data. Authors are welcome to contact the Editorial Team in advance if they require any assistance for the preparation of their manuscript.

Dr. Paolo Cavoretto
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Diagnostics is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

Prenatal diagnosis
Fetal medicine and surgery
Obstetric ultrasound
Fetal abnormalities
Chromosomal defects
Genetic syndromes
Screening in pregnancy
Pregnancy complications
Pre-eclampsia
Fetal growth restriction
Preterm delivery
Stillbirth

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Published Papers (10 papers)

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Research

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11 pages, 2194 KiB

Open AccessArticle

Evaluation of the Fetal Left Ventricular Myocardial Performance Index (MPI) by Using an Automated Measurement of Doppler Signals in Normal Pregnancies

by Su-Min Kim and Soo-Young Ye

Diagnostics 2021, 11(2), 358; https://doi.org/10.3390/diagnostics11020358 - 20 Feb 2021

Cited by 3 | Viewed by 4770

Abstract

The myocardial performance index is widely used as an indicator of the heart’s performance. However, due to the subjective nature of ultrasonic testing, there are differences in the measurements among inspectors, requiring a quantitative and objective assessment. In this study, an automated program was developed to quantitatively evaluate the myocardial performance index (MPI) and the cardiac time intervals in the left ventricle for each trimester. One hundred and thirty-three pregnant women who visited the hospital for prenatal examinations were studied, and skilled inspectors obtained left ventricular blood flow waveforms from 47 fetuses in the 12 weeks, 54 fetuses in the 22 weeks, and 32 fetuses in the 31 weeks of pregnancy using a pulse Doppler mode of ultrasound equipment. The acquired images automatically measured the isovolumetric contraction time (IVCT), isovolumetric relaxation time (IVRT,) ejection time (ET), and filling time (FT), and calculated the Tei index (TI) and the K-index (KI); each interval was manually measured during the actual inspection for comparison. In this study, the ultrasonic Doppler waveform was objectively analyzed and measured by the automated program, and it will help with the evaluation of fetal heart function. Full article

(This article belongs to the Special Issue Fetal Medicine)

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18 pages, 926 KiB

Open AccessArticle

Two Reliable Methodical Approaches for Non-Invasive RHD Genotyping of a Fetus from Maternal Plasma

by Jana Bohmova, Marek Lubusky, Iva Holuskova, Martina Studnickova, Romana Kratochvilova, Eva Krejcirikova, Veronika Durdova, Tereza Kratochvilova, Ladislav Dusek, Martin Prochazka and Radek Vodicka

Diagnostics 2020, 10(8), 564; https://doi.org/10.3390/diagnostics10080564 - 5 Aug 2020

Cited by 5 | Viewed by 3551

Abstract

Noninvasive fetal RHD genotyping is an important tool for predicting RhD incompatibility between a pregnant woman and a fetus. This study aimed to assess a methodological approach other than the commonly used one for noninvasive fetal RHD genotyping on a representative set of RhD-negative pregnant women. The methodology must be accurate, reliable, and broadly available for implementation into routine clinical practice. A total of 337 RhD-negative pregnant women from the Czech Republic region were tested in this study. The fetal RHD genotype was assessed using two methods: real-time PCR and endpoint quantitative fluorescent (QF) PCR. We used exon-7-specific primers from the RHD gene, along with internal controls. Plasma samples were analyzed and measured in four/two parallel reactions to determine the accuracy of the RHD genotyping. The RHD genotype was verified using DNA analysis from a newborn buccal swab. Both methods showed an excellent ability to predict the RHD genotype. Real-time PCR achieved its greatest accuracy of 98.6% (97.1% sensitivity and 100% specificity (95% CI)) if all four PCRs were positive/negative. The QF PCR method also achieved its greatest accuracy of 99.4% (100% sensitivity and 98.6% specificity (95% CI)) if all the measurements were positive/negative. Both real-time PCR and QF PCR were reliable methods for precisely assessing the fetal RHD allele from the plasma of RhD-negative pregnant women. Full article

(This article belongs to the Special Issue Fetal Medicine)

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11 pages, 1967 KiB

Open AccessArticle

Optimization Protocol of Fixation Method for Trophoblast Retrieval from the Cervix (TRIC): A Preliminary Study

by Min Jin Lee, Soo Hyun Kim, Sung Han Shim, Hee Yeon Jang, Hee Jin Park and Dong Hyun Cha

Diagnostics 2020, 10(5), 300; https://doi.org/10.3390/diagnostics10050300 - 14 May 2020

Cited by 7 | Viewed by 3438

Abstract

Extravillous trophoblast cells (EVTs) secreted by the uterine cavity may help overcome limitations associated with prenatal testing currently in use. EVTs are isolated using a routine safe liquid-based Pap test (called ThinPrep); however, the ThinPrep solution contains alcohol that hinders the isolation of intact EVTs. We compared the trophoblastic cell isolation efficiency of two different methods of fixation: Thinprep (pre-fixation method) and formalin (post-fixation method). We analyzed EVTs from 20 pregnant women (5–20 weeks of gestation) who underwent invasive prenatal testing. The percentages of placental β-human chorionic gonadotropin (β-hCG)-expressing cells were calculated. The presence of XY chromosomes were used to confirm pure trophoblast cells by fluorescence in situ hybridization. The β-hCG-positive cells obtained from pre- and post-fixation were 66.4 ± 13.3% and 83.2 ± 8.1% (p = 0.003), respectively, and fluorescence-positive cells were 11.1 ± 2.1% and 23.8 ± 4.8%, respectively (p = 0.001). Post-fixation was found to be more efficient in isolating non-trophoblast cells than pre-fixation. For the successful clinical application of trophoblast retrieval and isolation from the cervix in prenatal genetic testing, each step should be optimized for consistent and reliable results. Full article

(This article belongs to the Special Issue Fetal Medicine)

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13 pages, 5876 KiB

Open AccessArticle

Whole Exome Sequencing with Comprehensive Gene Set Analysis Identified a Biparental-Origin Homozygous c.509G>A Mutation in PPIB Gene Clustered in Two Taiwanese Families Exhibiting Fetal Skeletal Dysplasia during Prenatal Ultrasound

by Ting-Yu Chang, I-Fang Chung, Wan-Ju Wu, Shun-Ping Chang, Wen-Hsiang Lin, Norman A. Ginsberg, Gwo-Chin Ma and Ming Chen

Diagnostics 2020, 10(5), 286; https://doi.org/10.3390/diagnostics10050286 - 7 May 2020

Cited by 7 | Viewed by 3785

Abstract

Skeletal dysplasia (SD) is a complex group of bone and cartilage disorders often detectable by fetal ultrasound, but the definitive diagnosis remains challenging because the phenotypes are highly variable and often overlap among different disorders. The molecular mechanisms underlying this condition are also diverse. Hundreds of genes are involved in the pathogenesis of SD, but most of them are yet to be elucidated, rendering genotyping almost infeasible except those most common such as fibroblast growth factor receptor 3 (FGFR3), collagen type I alpha 1 chain (COL1A1), collagen type I alpha 2 chain (COL1A2), diastrophic dysplasia sulfate transporter (DTDST), and SRY-box 9 (SOX9). Here, we report the use of trio-based whole exome sequencing (trio-WES) with comprehensive gene set analysis in two Taiwanese non-consanguineous families with fetal SD at autopsy. A biparental-origin homozygous c.509G>A(p.G170D) mutation in peptidylprolyl isomerase B (PPIB) gene was identified. The results support a diagnosis of a rare form of autosomal recessive SD, osteogenesis imperfecta type IX (OI IX), and confirm that the use of a trio-WES study is helpful to uncover a genetic explanation for observed fetal anomalies (e.g., SD), especially in cases suggesting autosomal recessive inheritance. Moreover, the finding of an identical PPIB mutation in two non-consanguineous families highlights the possibility of the founder effect, which deserves future investigations in the Taiwanese population. Full article

(This article belongs to the Special Issue Fetal Medicine)

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Review

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14 pages, 8024 KiB

Open AccessReview

Postnatal Outcome and Associated Anomalies of Prenatally Diagnosed Right Aortic Arch with Concomitant Right Ductal Arch: A Systematic Review and Meta-Analysis

by Paolo Ivo Cavoretto, Alexandros Sotiriadis, Serena Girardelli, Silvia Spinillo, Massimo Candiani, Silvia Amodeo, Antonio Farina and Vlasta Fesslova

Diagnostics 2020, 10(10), 831; https://doi.org/10.3390/diagnostics10100831 - 15 Oct 2020

Cited by 12 | Viewed by 3289

Abstract

Right aortic arch presents a reported incidence of 0.1% of the general population; the aim of our study was to evaluate the risk of associated intracardiac (ICA), extracardiac (ECA), or chromosomal abnormalities in fetuses with right aortic arch (RAA) and concomitant right ductal arch (RDA). A systematic review of the literature selected 18 studies including 60 cases of RAA/RDA. A meta-analysis with a random effect model calculated for each outcome the pooled crude proportion of associated abnormal outcomes in cases of RAA/RDA and the pooled proportions and odds ratios in RAA with LDA or RDA. Quality assessment of the included studies was achieved using the NIH quality assessment tool for case series studies. RAA/RDA presents risk of associated conotruncal CHDs of about 30% and risk of 22q11 microdeletion in the region of 1%. Two-thirds of 22q11 microdeletions had concomitant thymic hypoplasia and no other chromosomal defects were described. Risks for ICA, ECA, 22q11 microdeletion, and aberrant left subclavian artery are not substantially different in RAA with right or left arterial duct. RAA increases the risk of associated cardiac defects regardless of laterality of the ductal arch. In isolated RDA/RAA cases, absolute risks of extracardiac associated problems or surgery are rather low, we would therefore recommend reassurance, particularly when the thymus and karyotype are normal. Full article

(This article belongs to the Special Issue Fetal Medicine)

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11 pages, 809 KiB

Open AccessReview

Application of Artificial Intelligence in Early Diagnosis of Spontaneous Preterm Labor and Birth

by Kwang-Sig Lee and Ki Hoon Ahn

Diagnostics 2020, 10(9), 733; https://doi.org/10.3390/diagnostics10090733 - 22 Sep 2020

Cited by 39 | Viewed by 7429

Abstract

This study reviews the current status and future prospective of knowledge on the use of artificial intelligence for the prediction of spontaneous preterm labor and birth (“preterm birth” hereafter). The summary of review suggests that different machine learning approaches would be optimal for different types of data regarding the prediction of preterm birth: the artificial neural network, logistic regression and/or the random forest for numeric data; the support vector machine for electrohysterogram data; the recurrent neural network for text data; and the convolutional neural network for image data. The ranges of performance measures were 0.79–0.94 for accuracy, 0.22–0.97 for sensitivity, 0.86–1.00 for specificity, and 0.54–0.83 for the area under the receiver operating characteristic curve. The following maternal variables were reported to be major determinants of preterm birth: delivery and pregestational body mass index, age, parity, predelivery systolic and diastolic blood pressure, twins, below high school graduation, infant sex, prior preterm birth, progesterone medication history, upper gastrointestinal tract symptom, gastroesophageal reflux disease, Helicobacter pylori, urban region, calcium channel blocker medication history, gestational diabetes mellitus, prior cone biopsy, cervical length, myomas and adenomyosis, insurance, marriage, religion, systemic lupus erythematosus, hydroxychloroquine sulfate, and increased cerebrospinal fluid and reduced cortical folding due to impaired brain growth. Full article

(This article belongs to the Special Issue Fetal Medicine)

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21 pages, 1632 KiB

Open AccessReview

Benefits and Risks of IgG Transplacental Transfer

by Anca Marina Ciobanu, Andreea Elena Dumitru, Nicolae Gica, Radu Botezatu, Gheorghe Peltecu and Anca Maria Panaitescu

Diagnostics 2020, 10(8), 583; https://doi.org/10.3390/diagnostics10080583 - 12 Aug 2020

Cited by 57 | Viewed by 12785

Abstract

Maternal passage of immunoglobulin G (IgG) is an important passive mechanism for protecting the infant while the neonatal immune system is still immature and ineffective. IgG is the only antibody class capable of crossing the histological layers of the placenta by attaching to the neonatal Fc receptor expressed at the level of syncytiotrophoblasts, and it offers protection against neonatal infectious pathogens. In pregnant women with autoimmune or alloimmune disorders, or in those requiring certain types of biological therapy, transplacental passage of abnormal antibodies may cause fetal or neonatal harm. In this review, we will discuss the physiological mechanisms and benefits of transplacental transfer of maternal antibodies as well as pathological maternal situations where this system is hijacked, potentially leading to adverse neonatal outcomes. Full article

(This article belongs to the Special Issue Fetal Medicine)

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27 pages, 2631 KiB

Open AccessReview

A Broader Perspective on Anti-Ro Antibodies and Their Fetal Consequences—A Case Report and Literature Review

by Mihaela Roxana Popescu, Andreea Dudu, Ciprian Jurcut, Anca Marina Ciobanu, Ana-Maria Zagrean and Anca Maria Panaitescu

Diagnostics 2020, 10(7), 478; https://doi.org/10.3390/diagnostics10070478 - 14 Jul 2020

Cited by 21 | Viewed by 8717

Abstract

The presence of maternal Anti-Ro/Anti-La antibodies causes a passively acquired autoimmunity that may be associated with serious fetal complications. The classic example is the autoimmune-mediated congenital heart block (CHB) which is due in most cases to the transplacental passage of Anti-Ro/Anti-La antibodies. The exact mechanisms through which these pathologic events arise are linked to disturbances in calcium channels function, impairment of calcium homeostasis and ultimately apoptosis, inflammation and fibrosis. CHB still represents a challenging diagnosis and a source of debate regarding the best management. As the third-degree block is usually irreversible, the best strategy is risk awareness and prevention. Although CHB is a rare occurrence, it affects one in 20,000 live births, with a high overall mortality rate (up to 20%, with 70% of in utero deaths). There is also concern over the lifelong consequences, as most babies need a pacemaker. This review aims to offer, apart from the data needed for a better understanding of the issue at hand, a broader perspective of the specialists directly involved in managing this pathology: the rheumatologist, the maternal–fetal specialist and the cardiologist. To better illustrate the theoretical facts presented, we also include a representative clinical case. Full article

(This article belongs to the Special Issue Fetal Medicine)

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Other

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10 pages, 4193 KiB

Open AccessCase Report

Intracranial Translucency, Its Use as a Potential First Trimester Ultrasound Marker for Screening of Neural Tube Defects

by Gerardo Sepúlveda-González, Tayde Arroyo-Lemarroy, David Basurto, Ivan Davila, Esteban Lizárraga-Cepeda, Angel Regino Guerra-de la Garza Evia and Andrea Alcázar-Juárez

Diagnostics 2020, 10(11), 986; https://doi.org/10.3390/diagnostics10110986 - 22 Nov 2020

Cited by 3 | Viewed by 7639

Abstract

The objective of the study was to describe a case-series of neural tube defects (NTD) with an abnormal intracranial translucency (IT) detected during the first-trimester ultrasound scan, performed on a low-risk obstetric population in Mexico. Certified Fetal Medicine specialists performed all US scans; the IT was assessed using the mid-sagittal view of the fetal head, which is already systematically used for nuchal translucency and nasal bone evaluation. During the study, we were able to find that eight fetuses had an absence of the intracranial translucency, out of which two were reassessed at 14 weeks′ gestation and IT was normal, six of them were later diagnosed to have an NTD that consisted in spina bifida aperta (n = 5) and encephalocele (n = 1). Conclusion: As previous studies have shown, IT evaluation during the first-trimester US routine scan may be a useful screening marker for early detection of NTDs. Full article

(This article belongs to the Special Issue Fetal Medicine)

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9 pages, 7948 KiB

Open AccessCase Report

Prenatal Management of Congenital Human Cytomegalovirus Infection in Seropositive Pregnant Patients Treated with Azathioprine

by Paolo Ivo Cavoretto, Chiara Fornara, Cristina Baldoli, Alessia Arossa, Milena Furione, Massimo Candiani, Patrizia Rovere Querini, Graziano Barera, Antonella Poloniato, Gerarda Gaeta, Arsenio Spinillo and Daniele Lilleri

Diagnostics 2020, 10(8), 542; https://doi.org/10.3390/diagnostics10080542 - 30 Jul 2020

Cited by 7 | Viewed by 2998

Abstract

Human cytomegalovirus (HCMV) is the leading infectious agent causing congenital disabilities. The risk of HCMV transmission to the fetus in pregnant women receiving immunosuppressive agents is unknown. We describe two cases of pregnant women with evidence of pre-conception HCMV protective immunity receiving azathioprine for ulcerative colitis or systemic lupus erythematosus. Both women reactivated the HCMV and transmitted the infection to the fetuses. One newborn showed unilateral hearing deficits and brain abnormalities while the other was asymptomatic. The mother of the symptomatic newborn had low levels of total and HCMV-specific blood CD4⁺ T cells. Women receiving immunosuppressive agents deserve information about the risk of HCMV congenital infection and should be monitored for HCMV infection during pregnancy. Their newborns should be screened for HCMV congenital infection. Full article

(This article belongs to the Special Issue Fetal Medicine)

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