ReviewBJOG : an international journal of obstetrics and gynaecology2021
The role of next-generation sequencing in the investigation of ultrasound-identified fetal structural anomalies.
Review in BJOG : an international journal of obstetrics and gynaecology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 2 of them syntheses that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
16 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Fetal genetic factors in pregnancy loss: Insights from a meta-analysis and effectiveness of whole exome sequencing.PloS one · 2025Pooled it
- Potential efficacy of digital polymerase chain reaction for non-invasive prenatal screening of autosomal aneuploidies: a systematic review and meta-analysis.BMC pregnancy and childbirth · 2024Pooled it
- Insights and Experiences From the 'Gatekeepers': A Qualitative Study Exploring Clinician Perspectives on Providing Publicly Funded Prenatal Exome Sequencing.The Australian & New Zealand journal of obstetrics & gynaecology · 2025Article
- Article
- Copy number variants and fetal structural abnormalities in stillborn fetuses: A secondary analysis of the Stillbirth Collaborative Research Network study.BJOG : an international journal of obstetrics and gynaecology · 2024Article
- Prenatal Detection of aGenes · 2023Article
- Association between aberrant amino acid metabolism and nonchromosomal modifications fetal structural anomalies: A cohort study.Frontiers in endocrinology · 2023Article
- Hydrocephalus and Growth Retardation: A FetalMolecular syndromology · 2023Article
- Challenges and Pragmatic Solutions in Pre-Test and Post-Test Genetic Counseling for Prenatal Exome Sequencing.The application of clinical genetics · 2023Article
- Fetal cerebral ventriculomegaly: What do we tell the prospective parents?Prenatal diagnosis · 2022Review
- The Role of Genome Sequencing in Neonatal Intensive Care Units.Annual review of genomics and human genetics · 2022Review
- Review
- The fetus in the age of the genome.Human genetics · 2022Article
- Analysis of autosomal dominant genes impacted by copy number loss in 24,844 fetuses without structural abnormalities.BMC genomics · 2022Article
- Simpson-Golabi-Behmel syndrome in one of the Dichorionic-diamniotic twin: a case report and literature review.BMC pregnancy and childbirth · 2022Review
- The role of next-generation sequencing in the investigation of ultrasound-identified fetal structural anomalies.BJOG : an international journal of obstetrics and gynaecology · 2021Review
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1 author.
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Abstract
Fetal structural anomalies have an impact on fetal mortality and morbidity. Next-generation sequencing (NGS) may be incorporated into clinical pathways for investigation of paediatric morbidity but can also be used to delineate the prognosis of fetal anomalies. This paper reviews the role of NGS in the investigation of fetal malformations, the literature defining the clinical utility, the technique most commonly used and potential promise and challenges for implementation into clinical practice. Prospective case selection with informative pre-test counselling by multidisciplinary teams is imperative. Regulated laboratory sequencing, bioinformatic pathways with potential variant identification and conservative matching with the phenotype is important. TWEETABLE ABSTRACT: Prenatal exome sequencing in fetal structural anomalies yields diagnostic information in up to 20% of cases.
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