| Literature DB >> 30988104 |
Jiawen Ong1, Arundhati Gosavi2, Arijit Biswas2, Mahesh Choolani2.
Abstract
A woman's chances of having a child with Down syndrome increases with age. By age 40, the risk of conceiving a child with Down syndrome is about 1 in 100. We report a rare case of dizygotic dichorionic diamniotic twin pregnancy conceived via in vitro fertilisation, with both twins having trisomy 21. Both fetuses were independently detected to be at high risk of autosomal trisomy, initially via first-trimester screening and subsequently via invasive definitive diagnostic tests (ie, chorionic villus sampling and amniocentesis).Diagnosis of trisomy 21 has to be made via initial non-invasive prenatal screening, followed by further rigorous and accurate invasive pregnancy testing for confirmation. The gravity of the results necessitates high detection rates and high specificity of prenatal screening tests. Management of the patient must be multidisciplinary and supportive in nature, involving extensive and non-directive pregnancy counselling and management, genetic counselling and management of psychological distress. © BMJ Publishing Group Limited 2019. No commercial re-use. See rights and permissions. Published by BMJ.Entities:
Keywords: pregnancy; reproductive medicine
Mesh:
Substances:
Year: 2019 PMID: 30988104 PMCID: PMC6506199 DOI: 10.1136/bcr-2018-227608
Source DB: PubMed Journal: BMJ Case Rep ISSN: 1757-790X