ArticleBMC medical genomics2018
Identifying the genetic causes for prenatally diagnosed structural congenital anomalies (SCAs) by whole-exome sequencing (WES).
Article in BMC medical genomics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 1 of them a synthesis that pooled it.
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Who cites it
20 citing papers in PubMed, 1 synthesis or guideline pooled it, 48 citations in OpenAlex.
- Diagnostic yield of exome sequencing for prenatal diagnosis of fetal structural anomalies: A systematic review and meta-analysis.Prenatal diagnosis · 2022Pooled it
- Application of Prenatal Whole Exome Sequencing for Congenital Heart Anomalies.International journal of molecular sciences · 2026Review
- Pregnancy Complications in Fetal Congenital Heart Disease: A Result of Common Early Developmental Pathways Rather Than Fetal Hemodynamics.Prenatal diagnosis · 2025Article
- Application of Whole-Exome Sequencing (WES) for Prenatal Determination of Causes of Fetal Abnormalities.Genes · 2025Article
- Research on the effectiveness of CMA and WES results in pregnant females with US findings and normal karyotype results from conventional karyotype analysis.Case reports in perinatal medicine · 2025Article
- Uncertain significance and molecular insights of CPLANE1 variants in prenatal diagnosis of Joubert syndrome: a case report.BMC pregnancy and childbirth · 2024Article
- Whole genome sequencing enhances molecular diagnosis of primary ciliary dyskinesia.Pediatric pulmonology · 2024Article
- Whole exome sequencing identifies risk variants associated with intracranial epidermoid cyst deterioration: A case report.World journal of clinical oncology · 2024Article
- Prenatal diagnosis of fetuses with ultrasound anomalies by whole-exome sequencing in Luoyang city, China.Frontiers in genetics · 2023Article
- Application of Prenatal Whole Exome Sequencing for Structural Congenital Anomalies-Experience from a Local Prenatal Diagnostic Laboratory.Healthcare (Basel, Switzerland) · 2022Article
- Exome sequencing as first-tier test for fetuses with severe central nervous system structural anomalies.Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology · 2022Article
- Parental experiences of rapid exome sequencing in cases with major ultrasound anomalies during pregnancy.Prenatal diagnosis · 2022Article
- Molecular Approaches in Fetal Malformations, Dynamic Anomalies and Soft Markers: Diagnostic Rates and Challenges-Systematic Review of the Literature and Meta-Analysis.Diagnostics (Basel, Switzerland) · 2022Review
- Prenatal Exome Sequencing: Background, Current Practice and Future Perspectives-A Systematic Review.Diagnostics (Basel, Switzerland) · 2021Review
- Application of exome sequencing for prenatal diagnosis: a rapid scoping review.Genetics in medicine : official journal of the American College of Medical Genetics · 2020Article
- Article
- A prospective study on rapid exome sequencing as a diagnostic test for multiple congenital anomalies on fetal ultrasound.Prenatal diagnosis · 2020Article
- Under-reported aspects of diagnosis and treatment addressed in the Dutch-Flemish guideline for comprehensive diagnostics in disorders/differences of sex development.Journal of medical genetics · 2020Review
- From diagnostic yield to clinical impact: a pilot study on the implementation of prenatal exome sequencing in routine care.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- Prenatal Diagnosis of Fetuses With Increased Nuchal Translucency by Genome Sequencing Analysis.Frontiers in genetics · 2019Article
Corrections and comments
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Authors and funding
18 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundWhole-exome sequencing (WES) has become an invaluable tool for genetic diagnosis in paediatrics. However, it has not been widely adopted in the prenatal setting. This study evaluated the use of WES in prenatal genetic diagnosis in fetuses with structural congenital anomalies (SCAs) detected on prenatal ultrasound.
methodThirty-three families with fetal SCAs on prenatal ultrasonography and normal chromosomal microarray results were recruited. Genomic DNA was extracted from various fetal samples including amniotic fluid, chorionic villi, and placental tissue. Parental DNA was extracted from peripheral blood when available. We used WES to sequence the coding regions of parental-fetal trios and to identify the causal variants based on the ultrasonographic features of the fetus.
resultsPathogenic mutations were identified in three families (n = 3/33, 9.1%), including mutations in DNAH11, RAF1 and CHD7, which were associated with primary ciliary dyskinesia, Noonan syndrome, and CHARGE syndrome, respectively. In addition, variants of unknown significance (VUSs) were detected in six families (18.2%), in which genetic changes only partly explained prenatal features.
conclusionWES identified pathogenic mutations in 9.1% of fetuses with SCAs and normal chromosomal microarray results. Databases for fetal genotype-phenotype correlations and standardized guidelines for variant interpretation in prenatal diagnosis need to be established to facilitate the use of WES for routine testing in prenatal diagnosis.
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