ArticleJournal of translational medicine2022
Clinical efficiency of simultaneous CNV-seq and whole-exome sequencing for testing fetal structural anomalies.
Article in Journal of translational medicine, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.
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Who cites it
28 citing papers in PubMed, 34 citations in OpenAlex.
- Technological Advances in Molecular Diagnostic Methods for Hereditary Diseases in Preconception and Prenatal Settings.Current issues in molecular biology · 2026Review
- Loss of Function of AFG3L2 Leading to Developmental and Epileptic Encephalopathy.CNS neuroscience & therapeutics · 2026Article
- Whole-exome sequencing increases variant detection compared to karyotyping and CMA in an unselected FGR cohort.Scientific reports · 2026Article
- Integrated genomic and clinical indicators for predicting foetal chromosomal abnormalities: development and validation of a nomogram model.Journal of global health · 2026Article
- Spectrum of Copy Number Variants in Fetal Congenital Heart Disease and Their Clinical Implications: A Retrospective Study from a Tertiary Care Center.Diagnostics (Basel, Switzerland) · 2026Article
- Whole Genome Sequence Identifies the Second Allele: An Intronic Variant in RYR1 Contributes to Early-Onset Fetal Akinesia Deformation Sequence.Molecular syndromology · 2026Article
- Molecular diagnosis of rare biallelic CDC45 gene variants causing Meier-Gorlin syndrome-7 using whole exome sequencing.Human genomics · 2026Article
- Application of microdeletion and microduplication screening in preimplantation genetic testing: a case report.Journal of medical case reports · 2026Article
- Decoding structural birth defects through genomic landscapes: Innovative frameworks for diagnosis (Review).International journal of molecular medicine · 2026Review
- Prenatal Exome Sequencing Analysis in Fetuses With Structural Anomalies: A Multicenter Prospective Cohort Study With Practical Implications.Prenatal diagnosis · 2026Article
- Influence of copy number variation of unknown significance on the pregnancy outcomes.Scientific reports · 2025Article
- Genetic and clinical features of microcephaly in a prenatal cohort.BMC pregnancy and childbirth · 2025Article
- Results and indications changes by prenatal diagnosis of 3,458 pregnant women: a 10-year retrospective study.Annals of medicine · 2025Article
- Lysosomal storage disorders in nonimmune hydrops fetalis diagnosed by exome sequencing.Orphanet journal of rare diseases · 2025Review
- Technical improvement on next-generation sequencing in clinical application.Practical laboratory medicine · 2025Article
- An exogenous encoding sequence based on DNA data storage technology and its application in assisted reproductive technology.Biochemistry and biophysics reports · 2025Article
- Unveiling Secondary Mutations in Blended Phenotypes: Dual ERCC4 and OTOA Pathogenic Variants Through WES Analysis.International journal of molecular sciences · 2024Article
- Simultaneous CNV-seq and WES: An effective strategy for molecular diagnosis of unexplained fetal structural anomalies.Heliyon · 2024Article
- Molecular diagnostic yield of exome sequencing in a Chinese cohort of 512 fetuses with anomalies.BMC pregnancy and childbirth · 2024Article
- Genetic Testing for Global Developmental Delay in Early Childhood.JAMA network open · 2024Article
Corrections and comments
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Authors and funding
16 authors at 3 institutions in 1 country.
Funding
Abstract
backgroundBirth defects are responsible for approximately 7% of neonatal deaths worldwide by World Health Organization in 2004. Many methods have been utilized for examining the congenital anomalies in fetuses. This study aims to investigate the efficiency of simultaneous CNV-seq and whole-exome sequencing (WES) in the diagnosis of fetal anomaly based on a large Chinese cohort.
methodsIn this cohort study, 1800 pregnant women with singleton fetus in Hubei Province were recruited from 2018 to 2020 for prenatal ultrasonic screening. Those with fetal structural anomalies were transferred to the Maternal and Child Health Hospital of Hubei Province through a referral network in Hubei, China. After multidisciplinary consultation and decision on fetal outcome, products of conception (POC) samples were obtained. Simultaneous CNV-seq and WES was conducted to identify the fetal anomalies that can compress initial DNA and turnaround time of reports.
resultsIn total, 959 couples were finally eligible for the enrollment. A total of 227 trios were identified with a causative alteration (CNV or variant), among which 191 (84.14%) were de novo. Double diagnosis of pathogenic CNVs and variants have been identified in 10 fetuses. The diagnostic yield of multisystem anomalies was significantly higher than single system anomalies (32.28% vs. 22.36%, P = 0.0183). The diagnostic rate of fetuses with consistent intra- and extra-uterine phenotypes (172/684) was significantly higher than the rate of these with inconsistent phenotypes (17/116, P = 0.0130).
conclusionsSimultaneous CNV-seq and WES analysis contributed to fetal anomaly diagnosis and played a vital role in elucidating complex anomalies with compound causes.
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