ArticleGenetics in medicine : official journal of the American College of Medical Genetics2018
Rapid prenatal diagnosis using targeted exome sequencing: a cohort study to assess feasibility and potential impact on prenatal counseling and pregnancy management.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 73 papers, 6 of them syntheses that pooled it.
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Who cites it
73 citing papers in PubMed, 6 syntheses or guidelines pooled it, 160 citations in OpenAlex.
- Diagnostic Yield of Sequencing for Prenatal Diagnosis of Fetal Structural Anomalies: An Updated Systematic Review.Prenatal diagnosis · 2026Pooled it
- 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
- What is the power of a genomic multidisciplinary team approach? A systematic review of implementation and sustainability.European journal of human genetics : EJHG · 2024Pooled it
- Pooled it
- Diagnostic yield of exome sequencing for prenatal diagnosis of fetal structural anomalies: A systematic review and meta-analysis.Prenatal diagnosis · 2022Pooled it
- Diagnosis of hypochondroplasia: international Delphi consensus recommendations.Nature reviews. Endocrinology · 2026Review
- Expanding prenatal diagnosis: clinical utility of prenatal whole-exome sequencing in a Romanian case series with fetal anomalies.Journal of medicine and life · 2026Article
- Moving beyond good intentions: a qualitative study exploring healthcare professionals' perspectives on delivering equitable prenatal testing in the English NHS.International journal for equity in health · 2026Article
- Identification of EVC variants and the preimplantation genetic testing in a Chinese family.Frontiers in medicine · 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
- Clinical and molecular characterization of chondrodysplasias in a cohort of Egyptian patients.Scientific reports · 2025Article
- Going Back in Time: Prenatal Presentations of Postnatal Genetic Diagnoses Made in a Neonatal Intensive Care Unit.Prenatal diagnosis · 2025Article
- '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
- Diagnostic yield of chromosomal microarray to examine the genetic factors associated with fetal aberrant right subclavian artery.Archives of gynecology and obstetrics · 2025Article
- Exome sequencing uncovers promising candidate genes for foetal structural malformations.The Indian journal of medical research · 2025Article
- Sequential prenatal diagnosis of fetal skeletal dysplasia: A cohort study.Acta obstetricia et gynecologica Scandinavica · 2025Article
- Ultrasound Phenotype, Genetic Analysis, and Pregnancy Outcomes of Fetuses With 1p36 Deletion Syndrome.Molecular genetics & genomic medicine · 2025Article
- Prenatal genomic sequencing: Navigating uncertainty.Seminars in perinatology · 2025Review
13 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
10 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeUnexpected fetal abnormalities occur in 2-5% of pregnancies. While traditional cytogenetic and microarray approaches achieve diagnosis in around 40% of cases, lack of diagnosis in others impedes parental counseling, informed decision making, and pregnancy management. Postnatally exome sequencing yields high diagnostic rates, but relies on careful phenotyping to interpret genotype results. Here we used a multidisciplinary approach to explore the utility of rapid fetal exome sequencing for prenatal diagnosis using skeletal dysplasias as an exemplar.
methodsParents in pregnancies undergoing invasive testing because of sonographic fetal abnormalities, where multidisciplinary review considered skeletal dysplasia a likely etiology, were consented for exome trio sequencing (both parents and fetus). Variant interpretation focused on a virtual panel of 240 genes known to cause skeletal dysplasias.
resultsDefinitive molecular diagnosis was made in 13/16 (81%) cases. In some cases, fetal ultrasound findings alone were of sufficient severity for parents to opt for termination. In others, molecular diagnosis informed accurate prediction of outcome, improved parental counseling, and enabled parents to terminate or continue the pregnancy with certainty.
conclusionTrio sequencing with expert multidisciplinary review for case selection and data interpretation yields timely, high diagnostic rates in fetuses presenting with unexpected skeletal abnormalities. This improves parental counseling and pregnancy management.
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