ArticleActa obstetricia et gynecologica Scandinavica2021
The potential diagnostic yield of whole exome sequencing in pregnancies complicated by fetal ultrasound anomalies.
Article in Acta obstetricia et gynecologica Scandinavica, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 2 of them syntheses that pooled it.
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Who cites it
18 citing papers in PubMed, 2 syntheses or guidelines pooled it, 48 citations in OpenAlex.
- The incremental yield of CMA over karyotype in fetal ventriculomegaly: a systematic review and meta-analysis.Archives of gynecology and obstetrics · 2026Pooled it
- Monogenic conditions and central nervous system anomalies: A prospective study, systematic review and meta-analysis.Prenatal diagnosis · 2024Pooled it
- Moderate Diagnostic Yield of Exome Sequencing in Fetal Growth Restriction: Retrospective Insights.Prenatal diagnosis · 2026Article
- Application of Prenatal Whole Exome Sequencing for Congenital Heart Anomalies.International journal of molecular sciences · 2026Review
- Abnormal Ultrasonography Overcomes NIPT's Inherent Limitations: Revealing Two Cases of NIPT False Negatives Caused by Trisomy 21 Mosaicism and a Literature Review.International journal of women's health · 2026Article
- Residual Risks of Fetal Chromosome Aberrations When Cell-Free DNA Prenatal Screening Is Normal: A Retrospective Study.Prenatal diagnosis · 2025Article
- Review
- Application of Whole-Exome Sequencing (WES) for Prenatal Determination of Causes of Fetal Abnormalities.Genes · 2025Article
- The Genetics of 241 Fetuses With Talipes Equinovarus: A 8-Year Monocentric Retrospective Study.Molecular genetics & genomic medicine · 2025Article
- Simultaneous CNV-seq and WES: An effective strategy for molecular diagnosis of unexplained fetal structural anomalies.Heliyon · 2024Article
- Article
- Prenatal whole-exome sequencing for fetal structural anomalies: a retrospective analysis of 145 Chinese cases.BMC medical genomics · 2023Article
- Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool.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
- Fetal Neurology: From Prenatal Counseling to Postnatal Follow-Up.Diagnostics (Basel, Switzerland) · 2022Review
- Genetic and Clinical Features of Heterotaxy in a Prenatal Cohort.Frontiers in genetics · 2022Article
- Prenatal exome sequencing: A useful tool for the fetal neurologist.Clinical genetics · 2022Article
- The potential diagnostic yield of whole exome sequencing in pregnancies complicated by fetal ultrasound anomalies.Acta obstetricia et gynecologica Scandinavica · 2021Article
Corrections and comments
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Authors and funding
19 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionThe aim of this retrospective cohort study was to determine the potential diagnostic yield of prenatal whole exome sequencing in fetuses with structural anomalies on expert ultrasound scans and normal chromosomal microarray results. MATERIAL AND
methodsIn the period 2013-2016, 391 pregnant women with fetal ultrasound anomalies who received normal chromosomal microarray results, were referred for additional genetic counseling and opted for additional molecular testing pre- and/or postnatally. Most of the couples received only a targeted molecular test and in 159 cases (40.7%) whole exome sequencing (broad gene panels or open exome) was performed. The results of these molecular tests were evaluated retrospectively, regardless of the time of the genetic diagnosis (prenatal or postnatal).
resultsIn 76 of 391 fetuses (19.4%, 95% CI 15.8%-23.6%) molecular testing provided a genetic diagnosis with identification of (likely) pathogenic variants. In the majority of cases (91.1%, 73/76) the (likely) pathogenic variant would be detected by prenatal whole exome sequencing analysis.
conclusionsOur retrospective cohort study shows that prenatal whole exome sequencing, if offered by a clinical geneticist, in addition to chromosomal microarray, would notably increase the diagnostic yield in fetuses with ultrasound anomalies and would allow early diagnosis of a genetic disorder irrespective of the (incomplete) fetal phenotype.
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