ArticleGenetics in medicine : official journal of the American College of Medical Genetics2019
From diagnostic yield to clinical impact: a pilot study on the implementation of prenatal exome sequencing in routine care.
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 32 papers, 1 of them a synthesis that pooled it.
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Who cites it
32 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Diagnostic yield of exome sequencing for prenatal diagnosis of fetal structural anomalies: A systematic review and meta-analysis.Prenatal diagnosis · 2022Pooled it
- Diagnostic yield of chromosomal microarray analysis and exome sequencing in fetuses with central nervous system anomalies, with long-term follow-up: a single-center study over a 17-year period.Archives of gynecology and obstetrics · 2026Article
- Inherited variants in autosomal dominant disease genes are a significant cause of fetal structural anomalies.Journal of medical genetics · 2026Article
- Experiences of Dutch parents undergoing prenatal genomic testing for fetal structural anomalies: A prospective qualitative analysis.Journal of genetic counseling · 2026Article
- Application of Prenatal Whole Exome Sequencing for Congenital Heart Anomalies.International journal of molecular sciences · 2026Review
- Readiness for Prenatal Genomic Medicine: A Cross-Sectional Survey of Obstetricians' Competence and Attitudes Toward Whole-Exome Sequencing in Xinjiang, China.International journal of women's health · 2026Article
- Article
- Prenatal Variants of Uncertain Significance (VUS): to report or not to report?European journal of human genetics : EJHG · 2025Article
- Going Back in Time: Prenatal Presentations of Postnatal Genetic Diagnoses Made in a Neonatal Intensive Care Unit.Prenatal diagnosis · 2025Article
- Prenatal genomic sequencing: Navigating uncertainty.Seminars in perinatology · 2025Review
- 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
- [A national network of molecular tests to detect Chlamydia trachomatis and Neisseria gonorrhoeae: a pilot implementation experience in Brazil].Cadernos de saude publica · 2024Article
- Access to prenatal exome sequencing for fetal malformations: A qualitative landscape analysis in the US.Prenatal diagnosis · 2023Article
- Challenges and Pragmatic Solutions in Pre-Test and Post-Test Genetic Counseling for Prenatal Exome Sequencing.The application of clinical genetics · 2023Article
- Implementation of Public Funded Genome Sequencing in Evaluation of Fetal Structural Anomalies.Genes · 2022Article
- Prenatal Genetic Testing in the Era of Next Generation Sequencing: A One-Center Canadian Experience.Genes · 2022Article
- Application of exome sequencing for prenatal diagnosis of fetal structural anomalies: clinical experience and lessons learned from a cohort of 1618 fetuses.Genome medicine · 2022Article
- Information is power: The experiences, attitudes and needs of individuals who chose to have prenatal genomic sequencing for fetal anomalies.Prenatal diagnosis · 2022Article
- Factors that impact on women's decision-making around prenatal genomic tests: An international discrete choice survey.Prenatal diagnosis · 2022Review
- Implementing a rapid fetal exome sequencing service: What do parents and health professionals think?Prenatal diagnosis · 2022Article
Corrections and comments
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Authors and funding
11 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeExome sequencing (ES) is an efficient tool to diagnose genetic disorders postnatally. Recent studies show that it may have a considerable diagnostic yield in fetuses with structural anomalies on ultrasound. We report on the clinical impact of the implementation of prenatal ES (pES) for ongoing pregnancies in routine care.
methodsWe retrospectively analyzed the impact of pES on pregnancy outcome and pre- or perinatal management in the first 22 patients counseled for pES because of one or more structural anomalies on fetal ultrasound.
resultsIn two cases, a diagnosis was made by chromosomal microarray analysis after ES counseling. The remaining 20 cases were divided in three groups: (1) pES to aid parental decision making (n = 12), (2) pES in the context of late pregnancy termination requests (n = 5), and (3) pES to guide pre- or perinatal management (n = 3). pES had a clinical impact in 75% (9/12), 40% (2/5), and 100% (3/3) respectively, showing an overall clinical impact of pES of 70% (14/20).
conclusionWe show that clinical implementation of pES is feasible and affects parental decision making or pre- and perinatal management supporting further implementation of ES in the prenatal setting.
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