ArticlePrenatal diagnosis2022
Trio exome sequencing is highly relevant in prenatal diagnostics.
Article in Prenatal diagnosis, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers, 4 of them syntheses that pooled it.
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Who cites it
32 citing papers in PubMed, 4 syntheses or guidelines pooled it, 57 citations in OpenAlex.
- The incremental yield of CMA over karyotype in fetal ventriculomegaly: a systematic review and meta-analysis.Archives of gynecology and obstetrics · 2026Pooled it
- A Framework for Bioinformatic Reporting in Prenatal Sequencing: Insights From a Systematic Review.Prenatal diagnosis · 2026Pooled it
- Prenatal Characterization of Houge-Janssens Syndrome Type 2: A Case Report and Systematic Review of Fetal Phenotypes Associated With PPP2R1A Mutations.Molecular genetics & genomic medicine · 2025Pooled it
- Monogenic conditions and central nervous system anomalies: A prospective study, systematic review and meta-analysis.Prenatal diagnosis · 2024Pooled it
- Global recommendations for the use of diagnostic genomic sequencing in the prenatal setting on behalf of the ESHG and ISPD.European journal of human genetics : EJHG · 2026Article
- Systematic evaluation of whole exome sequencing for copy number variation detection in prenatal diagnosis.Clinical and translational medicine · 2026Article
- Prenatal Presentation of ENPP1-Associated Generalized Arterial Calcification of Infancy at 15 + 1 Weeks: A Fetal Phenotype-Genotype Report.Prenatal diagnosis · 2026Article
- Cross Sectional Study of Prenatal Diagnosis Uptake Among Individuals With Genetic Conditions.Prenatal diagnosis · 2026Article
- A c.89G>C p.(Gly30Ala) Variant in the DHCR7 Gene as a Cause of a Mild Phenotype in the Smith-Lemli-Opitz Syndrome.Molecular genetics & genomic medicine · 2026Article
- Whole Genome Sequencing in Prenatal Diagnostics: The Danish Approach to Guideline Formation and Implementation Within Public Healthcare.Prenatal diagnosis · 2026Article
- Inherited variants in autosomal dominant disease genes are a significant cause of fetal structural anomalies.Journal of medical genetics · 2026Article
- A Case Report of a Syndromic Triad of Persistent Urogenital Sinus, Herlyn-Werner-Wunderlich Syndrome, and Prune Belly Syndrome in a Neonate.European journal of pediatric surgery reports · 2026Article
- Evaluation of the contribution of trio-exome sequencing in selected prenatal indications.Frontiers in genetics · 2026Article
- Opportunities and Limitations of Modern High Throughput Sequencing in Invasive Prenatal Diagnostics.Geburtshilfe und Frauenheilkunde · 2025Article
- Clinical exome sequencing for carrier screening in assisted reproductive technology and sperm donation.Journal of assisted reproduction and genetics · 2025Article
- Advancing fetal diagnosis and prognostication using comprehensive prenatal phenotyping and genetic testing.Pediatric research · 2025Review
- De NovoInternational journal of molecular sciences · 2025Review
- Prenatal phenotype of PNKP-related microcephaly, seizures, and developmental delay: A case report and literature review.Medicine · 2025Review
- Biallelic missense CEP55 variants cause prenatal MARCH syndrome.Journal of human genetics · 2025Article
- The Role of KDM2A and H3K36me2 Demethylation in Modulating MAPK Signaling During Neurodevelopment.Neuroscience bulletin · 2024Article
Corrections and comments
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Authors and funding
16 authors at 10 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveAbout 3% of newborns show malformations, with about 20% of the affected having genetic causes. Clarification of genetic diseases in postnatal diagnostics was significantly improved with high-throughput sequencing, in particular through whole exome sequencing covering all protein-coding regions. Here, we aim to extend the use of this technology to prenatal diagnostics.
methodBetween 07/2018 and 10/2020, 500 pregnancies with fetal ultrasound abnormalities were analyzed after genetic counseling as part of prenatal diagnostics using WES of the fetus and parents.
resultsMolecular genetic findings could explain ultrasound abnormalities in 38% of affected fetuses. In 47% of these, disease-causing de novo variants were found. Pathogenic variants in genes with autosomal recessive or X-linked inheritance were detected in more than one-third (70/189 = 37%). The latter are associated with increased probability of recurrence, making their detection important for further pregnancies. Average time from sample receipt to report was 12 days in the recent cases.
conclusionTrio exome sequencing is a useful addition to prenatal diagnostics due to its high diagnostic yield and short processing time (comparable to chromosome analysis). It covers a wide spectrum of genetic changes. Comprehensive interdisciplinary counseling before and after diagnostics is indispensable.
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