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Genes
Special Issues
Newborn Genetic Screening
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Newborn Genetic Screening

A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Human Genomics and Genetic Diseases".

Deadline for manuscript submissions: closed (25 March 2023) | Viewed by 5213

Special Issue Editor

Dr. Pankaj B. Agrawal

E-Mail Website
Guest Editor
Boston Children's Hospital, Boston, MA, USA
Interests: newborns; screening; genomics; rare disease

Special Issue Information

Dear Colleagues,

The critical role of genomic sequencing, including rapid exome or genome sequencing, is increasingly been recognized in diagnosing NICU patients with various genetic conditions. In contrast, the potential role of genomic sequencing in screening healthy newborns in the well-baby nursery is currently being researched. One of the first randomized controlled trials (Babyseq) funded by the NIH showed evidence of benefits in a few cases, although a relatively high prevalence of reportable genetic variants, and variability in their penetrance, dampened enthusiasm. Overall, this calls for further studies and possibly large-scale trials to address the risks and benefits of this approach.

This Special Issue is dedicated to sharing experiences from institutions all over the world to learn more about this very important research topic. Contributions from the authors will highlight what physicians, families and society’s views are towards newborn genetic screening, especially in countries where robust newborn screening programs do not exist. This is a critical topic for all of us, and geneticists, ethicists, neonatologists, pediatricians, genetic counselors, family physicians and families can participate in this discussion by submitting relevant research papers and critical reviews. I look forward to receiving your contributions.

Dr. Pankaj B. Agrawal
Guest Editor

Manuscript Submission Information

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Keywords

  • genomic
  • screening
  • newborn
  • genetics

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Published Papers (2 papers)

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14 pages, 3897 KiB  
Article
Contribution of Genetic Test to Early Diagnosis of Methylenetetrahydrofolate Reductase (MTHFR) Deficiency: The Experience of a Reference Center in Southern Italy
by Ferdinando Barretta, Fabiana Uomo, Simona Fecarotta, Lucia Albano, Daniela Crisci, Alessandra Verde, Maria Grazia Fisco, Giovanna Gallo, Daniela Dottore Stagna, Maria Rosaria Pricolo, Marianna Alagia, Gaetano Terrone, Alessandro Rossi, Giancarlo Parenti, Margherita Ruoppolo, Cristina Mazzaccara and Giulia Frisso
Genes 2023, 14(5), 980; https://doi.org/10.3390/genes14050980 - 26 Apr 2023
Cited by 1 | Viewed by 3019
Abstract
Background: the deficiency of 5,10-Methylenetetrahydrofolate reductase (MTHFR) constitutes a rare and severe metabolic disease and is included in most expanded newborn screening (NBS) programs worldwide. Patients with severe MTHFR deficiency develop neurological disorders and premature vascular disease. Timely diagnosis through NBS allows early [...] Read more.
Background: the deficiency of 5,10-Methylenetetrahydrofolate reductase (MTHFR) constitutes a rare and severe metabolic disease and is included in most expanded newborn screening (NBS) programs worldwide. Patients with severe MTHFR deficiency develop neurological disorders and premature vascular disease. Timely diagnosis through NBS allows early treatment, resulting in improved outcomes. Methods: we report the diagnostic yield of genetic testing for MTHFR deficiency diagnosis, in a reference Centre of Southern Italy between 2017 and 2022. MTHFR deficiency was suspected in four newborns showing hypomethioninemia and hyperhomocysteinemia; otherwise, one patient born in pre-screening era showed clinical symptoms and laboratory signs that prompted to perform genetic testing for MTHFR deficiency. Results: molecular analysis of the MTHFR gene revealed a genotype compatible with MTHFR deficiency in two NBS-positive newborns and in the symptomatic patient. This allowed for promptly beginning the adequate metabolic therapy. Conclusions: our results strongly support the need for genetic testing to quickly support the definitive diagnosis of MTHFR deficiency and start therapy. Furthermore, our study extends knowledge of the molecular epidemiology of MTHFR deficiency by identifying a novel mutation in the MTHFR gene. Full article
(This article belongs to the Special Issue Newborn Genetic Screening)
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10 pages, 2329 KiB  
Case Report
Co-Occurrence of a Pathogenic HSD3B2 Variant and a Duplication on 10q22.3-q23.2 Detected in Newborn Twins with Salt-Wasting Congenital Adrenal Hyperplasia
by Simona Mellone, Enrica Bertelli, Barbara Roviglione, Denise Vurchio, Sara Ronzani, Andrea Secco, Enrico Felici, Mariachiara Martina Strozzi, Federico Schena and Mara Giordano
Genes 2022, 13(12), 2190; https://doi.org/10.3390/genes13122190 - 23 Nov 2022
Cited by 1 | Viewed by 1828
Abstract
Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders caused by enzyme deficiencies required for cortisol biosynthesis in the adrenal cortex. The majority of CAH are due to the deficiency of the 21-hydroxylase enzyme, while 3β-hydroxysteroid dehydrogenase type 2 deficiency accounts [...] Read more.
Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders caused by enzyme deficiencies required for cortisol biosynthesis in the adrenal cortex. The majority of CAH are due to the deficiency of the 21-hydroxylase enzyme, while 3β-hydroxysteroid dehydrogenase type 2 deficiency accounts for less than five percent of all CAH cases. We report two Moroccan twins from a spontaneous triplet pregnancy. The 46,XY newborn exhibited a disorder of sexual differentiation (DSD) with hypo virilization, while the 46,XX newborn had normal female external genitalia. In the first week of life, they showed hyponatremia and primary adrenal insufficiency with a slight 17OHP elevation and increased DHEAS and renin levels. The aCGH-SNP analysis disclosed a 8.36 Mb long contiguous stretch of homozygosity (LCSH) on chromosome 1p13.2-p11.2 including the candidate HSD3B2 gene, a LCSH of 7.3 Mb on 14q31.1-q32.11, and a 7 Mb duplication on 10q22.3-q23.2. Clinical exome sequencing revealed the biallelic c.969T > G (p.Asn323Lys) HSD3B2, likely pathogenic, variant in both of the affected twins. This case emphasizes the importance of a prompt molecular diagnosis performed through the combination of aCGH and clinical exome, both for establishment of correct therapy and for follow-up, as the newborns also carry a genomic rearrangement with possible clinical implications. Full article
(This article belongs to the Special Issue Newborn Genetic Screening)
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