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Genetics and Genomics of Prenatal Testing
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Genetics and Genomics of Prenatal Testing

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

Deadline for manuscript submissions: closed (20 August 2023) | Viewed by 12746

Special Issue Editor

Dr. Andrey Glotov

E-Mail Website
Guest Editor
1. Department of Genomic Medicine, D.O.Ott Research Institute for Obstetrics, Gynecology, and Reproduction, St. Petersburg 199034, Russia
2. Laboratory of Biobanking and Genomic Medicine, Saint-Petersburg State University, St. Petersburg 199034, Russia
Interests: genetics; genome; biobank; prenatal diagnosis; NIPS; NGS; pregnancy complications

Special Issue Information

Dear Colleagues,

Recent advances in genetic technology have enabled the identification of many new genetic abnormalities and the molecular diagnosis of thousands of individuals with rare genetic disorders. Sequencing of the whole exome (WES) and whole genome (WGS), in particular, has really expanded the horizons of diagnostics not only in children and young people with suspected genetic diseases, but also in newborns and infants, in whom the recognition of a genetic syndrome only by clinical manifestations can be a difficult task. Recognizing fetal genetic syndrome is even more challenging because physical examination is limited to imaging techniques such as ultrasound or, in some centers, fetal MRI.

Today, in addition to the already classical methods for determining genetic abnormalities in the fetus (karyotyping, CGH, QF-PCR, etc.), non-invasive methods of genetic analysis are developing (non-invasive prenatal screening (NIPS)).

In addition, the search for early transcriptomic and proteomic biomarkers of various prenatal complications is currently being developed.

The aim of this Special Issue is to publish high quality manuscripts aimed at genetic research in the prenatal area. We welcome reviews, short reports, and original articles covering fetal and maternal genetics and early biomarkers of prenatal complications.

Dr. Andrey Glotov
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. Genes is an international peer-reviewed open access monthly 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 genetic
  • prenatal diagnosis
  • prenatal screening
  • pregnancy complications
  • NIPS
  • early biomarkers

Published Papers (5 papers)

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Review

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16 pages, 744 KiB  
Review
Genetics of Oocyte Maturation Defects and Early Embryo Development Arrest
by Olga Aleksandrovna Solovova and Vyacheslav Borisovich Chernykh
Genes 2022, 13(11), 1920; https://doi.org/10.3390/genes13111920 - 22 Oct 2022
Cited by 7 | Viewed by 5419
Abstract
Various pathogenic factors can lead to oogenesis failure and seriously affect both female reproductive health and fertility. Genetic factors play an important role in folliculogenesis and oocyte maturation but still need to be clarified. Oocyte maturation is a well-organized complex process, regulated by [...] Read more.
Various pathogenic factors can lead to oogenesis failure and seriously affect both female reproductive health and fertility. Genetic factors play an important role in folliculogenesis and oocyte maturation but still need to be clarified. Oocyte maturation is a well-organized complex process, regulated by a large number of genes. Pathogenic variants in these genes as well as aneuploidy, defects in mitochondrial genome, and other genetic and epigenetic factors can result in unexplained infertility, early pregnancy loss, and recurrent failures of IVF/ICSI programs due to poor ovarian response to stimulation, oocyte maturation arrest, poor gamete quality, fertilization failure, or early embryonic developmental arrest. In this paper, we review the main genes, as well as provide a description of the defects in the mitochondrial genome, associated with female infertility. Full article
(This article belongs to the Special Issue Genetics and Genomics of Prenatal Testing)
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11 pages, 736 KiB  
Case Report
The Potential Usefulness of the Expanded Carrier Screening to Identify Hereditary Genetic Diseases: A Case Report from Real-World Data
by Iolanda Veneruso, Annaluisa Ranieri, Noemi Falcone, Lorella Tripodi, Carmela Scarano, Ilaria La Monica, Lucio Pastore, Barbara Lombardo and Valeria D’Argenio
Genes 2023, 14(8), 1651; https://doi.org/10.3390/genes14081651 - 19 Aug 2023
Viewed by 1291
Abstract
Expanded carrier screening (ECS) means a comprehensive genetic analysis to evaluate an individual’s carrier status. ECS is becoming more frequently used, thanks to the availability of techniques such as next generation sequencing (NGS) and array comparative genomic hybridization (aCGH), allowing for extensive genome-scale [...] Read more.
Expanded carrier screening (ECS) means a comprehensive genetic analysis to evaluate an individual’s carrier status. ECS is becoming more frequently used, thanks to the availability of techniques such as next generation sequencing (NGS) and array comparative genomic hybridization (aCGH), allowing for extensive genome-scale analyses. Here, we report the case of a couple who underwent ECS for a case of autism spectrum disorder in the male partner family. aCGH and whole-exome sequencing (WES) were performed in the couple. aCGH analysis identified in the female partner two deletions involving genes associated to behavioral and neurodevelopment disorders. No clinically relevant alterations were identified in the husband. Interestingly, WES analysis identified in the male partner a pathogenic variant in the LPL gene that is emerging as a novel candidate gene for autism. This case shows that ECS may be useful in clinical contexts, especially when both the partners are analyzed before conception, thus allowing the estimation of their risk to transmit an inherited condition. On the other side, there are several concerns related to possible incidental findings and difficult-to-interpret results. Once these limits are defined by the establishment of specific guidelines, ECS may have a greater diffusion. Full article
(This article belongs to the Special Issue Genetics and Genomics of Prenatal Testing)
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8 pages, 1110 KiB  
Case Report
Prenatal Diagnosis of Mucopolysaccharidosis-Plus Syndrome (MPSPS)
by Viktoriia Sofronova, Lyutsiya Gotovtseva, Anastasia Danilova, Aitalina Sukhomyasova, Takahito Moriwaki, Seigo Terawaki, Takanobu Otomo and Nadezhda Maksimova
Genes 2023, 14(8), 1581; https://doi.org/10.3390/genes14081581 - 03 Aug 2023
Cited by 1 | Viewed by 1521
Abstract
Mucopolysaccharidosis-plus syndrome (MPSPS) is an autosomal-recessive disorder caused by c.1492C>T (p.R498W) in the VPS33A gene. MPSPS is a severe disorder that causes a short lifespan in patients. Currently, there is no specific treatment for patients. The Yakut population is more prone to this [...] Read more.
Mucopolysaccharidosis-plus syndrome (MPSPS) is an autosomal-recessive disorder caused by c.1492C>T (p.R498W) in the VPS33A gene. MPSPS is a severe disorder that causes a short lifespan in patients. Currently, there is no specific treatment for patients. The Yakut population is more prone to this disease than others. Diagnosing MPSPS relies on clinical manifestations, and genetic testing (GT) is used to confirm the diagnosis. In this research, we examined two pregnancy cases, one of which involved a prenatal diagnosis for MPSPS. Notably, neither pregnant woman had a known family history of the disorder. During their pregnancies, both women underwent prenatal ultrasonography, which revealed increased prenasal thickness during the second trimester. In the first case, ultrasonography indicated increased prenasal thickness in the second trimester, but a definitive diagnosis was not made at that time. The patient was eventually diagnosed with MPSPS at 11 months of age. On the contrary, in the second case, GT uncovered that the parents were carriers of MPSPS. Consequently, a placental biopsy was performed, leading to an early diagnosis of MPSPS. This study emphasizes the importance of ultrasonography findings in prenatal MPSPS diagnosis. Combining ultrasonography with GT can be a valuable approach to confirming MPSPS at an early stage, allowing for the appropriate planning of delivery methods and medical care. Ultimately, this comprehensive approach can significantly enhance the quality of life of both affected patients and their parents. Full article
(This article belongs to the Special Issue Genetics and Genomics of Prenatal Testing)
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10 pages, 1412 KiB  
Case Report
Prenatal Detection of Trisomy 2: Considerations for Genetic Counseling and Testing
by Olga E. Talantova, Alla S. Koltsova, Andrei V. Tikhonov, Anna A. Pendina, Olga V. Malysheva, Olga A. Tarasenko, Elena S. Vashukova, Elena S. Shabanova, Arina V. Golubeva, Olga G. Chiryaeva, Andrey S. Glotov, Olesya N. Bespalova and Olga A. Efimova
Genes 2023, 14(4), 913; https://doi.org/10.3390/genes14040913 - 14 Apr 2023
Cited by 2 | Viewed by 1744
Abstract
We report on the case of prenatal detection of trisomy 2 in placental biopsy and further algorithm of genetic counseling and testing. A 29-year-old woman with first-trimester biochemical markers refused chorionic villus sampling and preferred targeted non-invasive prenatal testing (NIPT), which showed low [...] Read more.
We report on the case of prenatal detection of trisomy 2 in placental biopsy and further algorithm of genetic counseling and testing. A 29-year-old woman with first-trimester biochemical markers refused chorionic villus sampling and preferred targeted non-invasive prenatal testing (NIPT), which showed low risk for aneuploidies 13, 18, 21, and X. A series of ultrasound examinations revealed increased chorion thickness at 13/14 weeks of gestation and fetal growth retardation, a hyperechoic bowel, challenging visualization of the kidneys, dolichocephaly, ventriculomegaly, increase in placental thickness, and pronounced oligohydramnios at 16/17 weeks of gestation. The patient was referred to our center for an invasive prenatal diagnosis. The patient’s blood and placenta were sampled for whole-genome sequencing-based NIPT and array comparative genomic hybridization (aCGH), respectively. Both investigations revealed trisomy 2. Further prenatal genetic testing in order to confirm trisomy 2 in amniocytes and/or fetal blood was highly questionable because oligohydramnios and fetal growth retardation made amniocentesis and cordocentesis technically unfeasible. The patient opted to terminate the pregnancy. Pathological examination of the fetus revealed internal hydrocephalus, atrophy of brain structure, and craniofacial dysmorphism. Conventional cytogenetic analysis and fluorescence in situ hybridization revealed chromosome 2 mosaicism with a prevalence of trisomic clone in the placenta (83.2% vs. 16.8%) and a low frequency of trisomy 2, which did not exceed 0.6% in fetal tissues, advocating for low-level true fetal mosaicism. To conclude, in pregnancies at risk of fetal chromosomal abnormalities that refuse invasive prenatal diagnosis, whole-genome sequencing-based NIPT, but not targeted NIPT, should be considered. In prenatal cases of trisomy 2, true mosaicism should be distinguished from placental-confined mosaicism using cytogenetic analysis of amniotic fluid cells or fetal blood cells. However, if material sampling is impossible due to oligohydramnios and/or fetal growth retardation, further decisions should be based on a series of high-resolution fetal ultrasound examinations. Genetic counseling for the risk of uniparental disomy in a fetus is also required. Full article
(This article belongs to the Special Issue Genetics and Genomics of Prenatal Testing)
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12 pages, 3750 KiB  
Case Report
A Case Report of a Feto-Placental Mosaicism Involving a Segmental Aneuploidy: A Challenge for Genome Wide Screening by Non-Invasive Prenatal Testing of Cell-Free DNA in Maternal Plasma
by Luigia De Falco, Giuseppina Vitiello, Giovanni Savarese, Teresa Suero, Raffaella Ruggiero, Pasquale Savarese, Monica Ianniello, Nadia Petrillo, Mariasole Bruno, Antonietta Legnante, Francesco Fioravanti Passaretti, Carmela Ardisia, Attilio Di Spiezio Sardo and Antonio Fico
Genes 2023, 14(3), 668; https://doi.org/10.3390/genes14030668 - 07 Mar 2023
Cited by 1 | Viewed by 1833
Abstract
Non-invasive prenatal testing (NIPT) using cell-free DNA can detect fetal chromosomal anomalies with high clinical sensitivity and specificity. In approximately 0.1% of clinical cases, the NIPT result and a subsequent diagnostic karyotype are discordant. Here we report a case of a 32-year-old pregnant [...] Read more.
Non-invasive prenatal testing (NIPT) using cell-free DNA can detect fetal chromosomal anomalies with high clinical sensitivity and specificity. In approximately 0.1% of clinical cases, the NIPT result and a subsequent diagnostic karyotype are discordant. Here we report a case of a 32-year-old pregnant patient with a 44.1 Mb duplication on the short arm of chromosome 4 detected by NIPT at 12 weeks’ gestation. Amniocentesis was carried out at 18 weeks’ gestation, followed by conventional and molecular cytogenetic analysis on cells from the amniotic fluid. SNP array analysis found a de novo deletion of 1.2 Mb at chromosome 4, and this deletion was found to be near the critical region of the Wolf-Hirschhorn syndrome. A normal 46,XY karyotype was identified by G-banding analysis. The patient underwent an elective termination and molecular investigations on tissues from the fetus, and the placenta confirmed the presence of type VI true fetal mosaicism. It is important that a patient receives counselling following a high-risk call on NIPT, with appropriate diagnostic analysis advised before any decisions regarding the pregnancy are taken. This case highlights the importance of genetic counselling following a high-risk call on NIPT, especially in light of the increasing capabilities of NIPT detection of sub-chromosomal deletions and duplications. Full article
(This article belongs to the Special Issue Genetics and Genomics of Prenatal Testing)
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