ArticlePrenatal diagnosis2020
A prospective study on rapid exome sequencing as a diagnostic test for multiple congenital anomalies on fetal ultrasound.
Article in Prenatal diagnosis, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers, 3 of them syntheses that pooled it.
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Who cites it
29 citing papers in PubMed, 3 syntheses or guidelines pooled it, 47 citations in OpenAlex.
- Incremental yield of prenatal exome sequencing in fetuses with skeletal system abnormalities: A systematic review and meta-analysis.Acta obstetricia et gynecologica Scandinavica · 2025Pooled it
- Diagnostic yield of exome sequencing for prenatal diagnosis of fetal structural anomalies: A systematic review and meta-analysis.Prenatal diagnosis · 2022Pooled it
- Fetal hydrops and the Incremental yield of Next-generation sequencing over standard prenatal Diagnostic testing (FIND) study: prospective cohort study and meta-analysis.Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology · 2021Pooled it
- Prenatal Diagnosis and Perinatal Outcomes of Posterior Fossa Anomalies in a Tertiary Referral Center: A Five-Year Experience.Medicina (Kaunas, Lithuania) · 2026Article
- Application of next-generation sequencing in nonimmune hydrops fetalis and its impact on pregnancy decisions.BMC pregnancy and childbirth · 2026Article
- Global Delivery of Foetal Sequencing: Do We Need Some Standardisation?Prenatal diagnosis · 2026Article
- Article
- Prenatal genomic sequencing: Navigating uncertainty.Seminars in perinatology · 2025Review
- A Review of Artificial Intelligence-Based Down Syndrome Detection Techniques.Life (Basel, Switzerland) · 2025Review
- The Genetics of 241 Fetuses With Talipes Equinovarus: A 8-Year Monocentric Retrospective Study.Molecular genetics & genomic medicine · 2025Article
- Estimation ofGenetics in medicine open · 2025Article
- Extending the new era of genomic testing into pregnancy management: A proposed model for Australian prenatal services.The Australian & New Zealand journal of obstetrics & gynaecology · 2024Article
- Prenatal Diagnosis by Trio Clinical Exome Sequencing: Single Center Experience.Current issues in molecular biology · 2024Article
- Lessons learned from rapid exome sequencing for 575 critically ill patients across the broad spectrum of rare disease.Frontiers in genetics · 2023Article
- Challenges and Pragmatic Solutions in Pre-Test and Post-Test Genetic Counseling for Prenatal Exome Sequencing.The application of clinical genetics · 2023Article
- Article
- Implementation of Public Funded Genome Sequencing in Evaluation of Fetal Structural Anomalies.Genes · 2022Article
- Parental experiences of rapid exome sequencing in cases with major ultrasound anomalies during pregnancy.Prenatal diagnosis · 2022Article
- Implementing a rapid fetal exome sequencing service: What do parents and health professionals think?Prenatal diagnosis · 2022Article
- Fetal Electrocardiogram Extraction from the Mother's Abdominal Signal Using the Ensemble Kalman Filter.Sensors (Basel, Switzerland) · 2022Article
Corrections and comments
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Authors and funding
16 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveConventional genetic tests (quantitative fluorescent-PCR [QF-PCR] and single nucleotide polymorphism-array) only diagnose ~40% of fetuses showing ultrasound abnormalities. Rapid exome sequencing (rES) may improve this diagnostic yield, but includes challenges such as uncertainties in fetal phenotyping, variant interpretation, incidental unsolicited findings, and rapid turnaround times. In this study, we implemented rES in prenatal care to increase diagnostic yield.
methodsWe prospectively studied 55 fetuses. Inclusion criteria were: (a) two or more independent major fetal anomalies, (b) hydrops fetalis or bilateral renal cysts alone, or (c) one major fetal anomaly and a first-degree relative with the same anomaly. In addition to conventional genetic tests, we performed trio rES analysis using a custom virtual gene panel of ~3850 Online Mendelian Inheritance in Man (OMIM) genes.
resultsWe established a genetic rES-based diagnosis in 8 out of 23 fetuses (35%) without QF-PCR or array abnormalities. Diagnoses included MIRAGE (SAMD9), Zellweger (PEX1), Walker-Warburg (POMGNT1), Noonan (PTNP11), Kabuki (KMT2D), and CHARGE (CHD7) syndrome and two cases of Osteogenesis Imperfecta type 2 (COL1A1). In six cases, rES diagnosis aided perinatal management. The median turnaround time was 14 (range 8-20) days.
conclusionImplementing rES as a routine test in the prenatal setting is challenging but technically feasible, with a promising diagnostic yield and significant clinical relevance.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.