Whole-exome sequencing applications in prenatal diagnosis of fetal bowel dilatation
Author:
Affiliation:
1. Department of Obstetrics and Gynecology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology , No. 1095 Liberation Avenue , Wuhan 430030, Hubei , China
Abstract
Publisher
Walter de Gruyter GmbH
Subject
General Agricultural and Biological Sciences,General Immunology and Microbiology,General Biochemistry, Genetics and Molecular Biology,General Neuroscience
Link
https://www.degruyter.com/document/doi/10.1515/biol-2022-0598/pdf
Reference23 articles.
1. Lord J, McMullan DJ, Eberhardt RY, Rinck G, Hamilton SJ, Quinlan-Jones E, et al. Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study. Lancet. 2019;393(10173):747–57.
2. Persson M, Cnattingius S, Villamor E, Soderling J, Pasternak B, Stephansson O, et al. Risk of major congenital malformations in relation to maternal overweight and obesity severity: cohort study of 1.2 million singletons. BMJ. 2017;357:j2563.
3. Carrera JM, Torrents M, Mortera C, Cusi V, Munoz A. Routine prenatal ultrasound screening for fetal abnormalities: 22 years’ experience. Ultrasound Obstet Gynecol. 1995;5(3):174–9.
4. Robson SC, Chitty LS, Morris S, Verhoef T, Ambler G, Wellesley DG, et al. Evaluation of array comparative genomic hybridisation in prenatal diagnosis of fetal anomalies: A multicentre cohort study with cost analysis and assessment of patient, health professional and commissioner preferences for array comparative genomic hybridisation. Efficacy Mech Eval. Southampton (UK). 2017;4(1):1–104.
5. Wapner RJ, Martin CL, Levy B, Ballif BC, Eng CM, Zachary JM, et al. Chromosomal microarray versus karyotyping for prenatal diagnosis. N Engl J Med. 2012;367(23):2175–84.
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