ArticleGenetics in medicine : official journal of the American College of Medical Genetics2021
Beyond diagnostic yield: prenatal exome sequencing results in maternal, neonatal, and familial clinical management changes.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers, 4 of them syntheses that pooled it.
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Who cites it
28 citing papers in PubMed, 4 syntheses or guidelines pooled it, 49 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
- Exome sequencing and prenatal skeletal abnormalities: comprehensive review and meta-analysis and way forward.Frontiers in genetics · 2025Pooled it
- Monogenic conditions and central nervous system anomalies: A prospective study, systematic review and meta-analysis.Prenatal diagnosis · 2024Pooled it
- Diagnostic yield of exome sequencing for prenatal diagnosis of fetal structural anomalies: A systematic review and meta-analysis.Prenatal diagnosis · 2022Pooled it
- Cross Sectional Study of Prenatal Diagnosis Uptake Among Individuals With Genetic Conditions.Prenatal diagnosis · 2026Article
- Assessment of diagnostic yield and clinical utility of genome sequencing in critically ill infants.Pediatric research · 2026Article
- Diagnosed After Birth-But Detectable Before? A Cohort Study of Prenatal Testing Potential.Prenatal diagnosis · 2026Article
- Inherited variants in autosomal dominant disease genes are a significant cause of fetal structural anomalies.Journal of medical genetics · 2026Article
- Article
- Are People From Black Communities Proportionately Represented in UK and US Studies Examining Views on Screening and Diagnostic Genetic Testing in Pregnancy? A Scoping Review.BJOG : an international journal of obstetrics and gynaecology · 2025Article
- Bi-allelic deleterious variants in SNAPIN, which encodes a retrograde dynein adaptor, cause a prenatal-onset neurodevelopmental disorder.American journal of human genetics · 2025Article
- Going Back in Time: Prenatal Presentations of Postnatal Genetic Diagnoses Made in a Neonatal Intensive Care Unit.Prenatal diagnosis · 2025Article
- Current Controversies in Prenatal Diagnosis-Conference Debate 2024: All Fetuses Undergoing Fetal Therapy Should Have Exome Sequencing.Prenatal diagnosis · 2025Review
- 'I Have my Beliefs, but Then I Have my Reality': Reflections of Black and South Asian Parents Living in England on Screening and Genetic Diagnosis in Pregnancy.Prenatal diagnosis · 2025Article
- Prenatal genomic sequencing: Navigating uncertainty.Seminars in perinatology · 2025Review
- Advancing fetal diagnosis and prognostication using comprehensive prenatal phenotyping and genetic testing.Pediatric research · 2025Review
- Targeted fetal NGS panel reveals genetic conditions in sonographically normal fetuses: Insights from a large cohort study.PloS one · 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
- Searching for a sense of closure: parental experiences of recontacting after a terminated pregnancy for congenital malformations.European journal of human genetics : EJHG · 2024Article
- Access to prenatal exome sequencing for fetal malformations: A qualitative landscape analysis in the US.Prenatal diagnosis · 2023Article
Corrections and comments
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
Abstract
purposePrevious studies have reported that prenatal exome sequencing (pES) can detect monogenic diseases in fetuses with congenital anomalies with diagnostic yields ranging from 6% to 81%, but there are few reports of its clinical utility.
methodsWe conducted a retrospective chart review of patients who had pES to determine whether results led to clinical management changes.
resultsOf 20 patients, 8 (40%) received a definitive diagnosis. Seven patients (35%) had medical management changes based on the pES results, including alterations to their delivery plan and neonatal management (such as use of targeted medications, subspecialty referrals, additional imaging and/or procedures). All patients who received a definitive diagnosis and one who received a likely pathogenic variant (n = 9; 45%) received specific counseling about recurrence risk and the medical/developmental prognosis for the baby. In five (25%) cases, the result facilitated a diagnosis in parents and/or siblings.
conclusionpES results can have significant impacts on clinical management, some of which would not be possible if testing is deferred until after birth. To maximize the clinical utility, pES should be prioritized in cases where multiple care options are available and the imaging findings alone are not sufficient to guide parental decision-making, or where postnatal testing will not be feasible.
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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.