ArticleGenetics in medicine : official journal of the American College of Medical Genetics2019
Molecular autopsy by trio exome sequencing (ES) and postmortem examination in fetuses and neonates with prenatally identified structural anomalies.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers, 1 of them a synthesis that pooled it.
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Who cites it
23 citing papers in PubMed, 1 synthesis or guideline pooled it, 70 citations in OpenAlex.
- Diagnostic yield of exome sequencing for prenatal diagnosis of fetal structural anomalies: A systematic review and meta-analysis.Prenatal diagnosis · 2022Pooled it
- Article
- [Establish Standardized Pathological and Genetic Examinations to Reduce the Incidence of Stillbirth].Sichuan da xue xue bao. Yi xue ban = Journal of Sichuan University. Medical science edition · 2026Review
- Genetics and Stillbirth.Clinics in perinatology · 2026Review
- Article
- Application of family whole-exome sequencing for prenatal diagnosis-an analysis of 357 cases.Frontiers in medicine · 2025Article
- Molecular diagnostic yield of exome sequencing in a Chinese cohort of 512 fetuses with anomalies.BMC pregnancy and childbirth · 2024Article
- Article
- Whole Exome-Trio Analysis Reveals Rare Variants Associated with Congenital Pouch Colon.Children (Basel, Switzerland) · 2023Article
- Implications of Genomic Newborn Screening for Infant Mortality.International journal of neonatal screening · 2023Article
- Whole-exome sequencing in deceased fetuses with ultrasound anomalies: a retrospective analysis.BMC medical genomics · 2023Article
- Reclassification of the Etiology of Infant Mortality With Whole-Genome Sequencing.JAMA network open · 2023Article
- Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death.Nature medicine · 2023Article
- Review
- Molecular Approaches in Fetal Malformations, Dynamic Anomalies and Soft Markers: Diagnostic Rates and Challenges-Systematic Review of the Literature and Meta-Analysis.Diagnostics (Basel, Switzerland) · 2022Review
- Determining the cause of intrauterine fetal death in monochorionic twins: A case report.Frontiers in medicine · 2022Article
- Lethal variants in humans: lessons learned from a large molecular autopsy cohort.Genome medicine · 2021Article
- Exome sequencing analysis on products of conception: a cohort study to evaluate clinical utility and genetic etiology for pregnancy loss.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- Prenatal Exome Sequencing: Background, Current Practice and Future Perspectives-A Systematic Review.Diagnostics (Basel, Switzerland) · 2021Review
- The role of next-generation sequencing in the investigation of ultrasound-identified fetal structural anomalies.BJOG : an international journal of obstetrics and gynaecology · 2021Review
Corrections and comments
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Authors and funding
13 authors at 3 institutions in 1 country.
Funding
Abstract
purposeTo determine the diagnostic yield of combined exome sequencing (ES) and autopsy in fetuses/neonates with prenatally identified structural anomalies resulting in termination of pregnancy, intrauterine, neonatal, or early infant death.
methodsES was undertaken in 27 proband/parent trios following full autopsy. Candidate pathogenic variants were classified by a multidisciplinary clinical review panel using American College of Medical Genetics and Genomics (ACMG) guidelines.
resultsA genetic diagnosis was established in ten cases (37%). Pathogenic/likely pathogenic variants were identified in nine different genes including four de novo autosomal dominant, three homozygous autosomal recessive, two compound heterozygous autosomal recessive, and one X-linked. KMT2D variants (associated with Kabuki syndrome postnatally) occurred in two cases. Pathogenic variants were identified in 5/13 (38%) cases with multisystem anomalies, in 2/4 (50%) cases with fetal akinesia deformation sequence, and in 1/4 (25%) cases each with cardiac and brain anomalies and hydrops fetalis. No pathogenic variants were detected in fetuses with genitourinary (1), skeletal (1), or abdominal (1) abnormalities.
conclusionThis cohort demonstrates the clinical utility of molecular autopsy with ES to identify an underlying genetic cause in structurally abnormal fetuses/neonates. These molecular findings provided parents with an explanation of the developmental abnormality, delineated the recurrence risks, and assisted the management of subsequent pregnancies.
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