Literature DB >> 30988104

Trisomy 21 in both fetuses in a DCDA twin pregnancy.

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


  18 in total

Review 1.  Down syndrome screening in assisted conception twins: an iatrogenic medical challenge.

Authors:  Ido Ben-Ami; Ron Maymon; Ran Svirsky; Howard Cuckle; Eric Jauniaux
Journal:  Obstet Gynecol Surv       Date:  2013-11       Impact factor: 2.347

2.  First-trimester screening with nasal bone in twins.

Authors:  Jane Cleary-Goldman; Andrei Rebarber; David Krantz; Terrence Hallahan; Daniel Saltzman
Journal:  Am J Obstet Gynecol       Date:  2008-09       Impact factor: 8.661

3.  Prospective first-trimester screening for trisomies by cell-free DNA testing of maternal blood in twin pregnancy.

Authors:  L Sarno; R Revello; E Hanson; R Akolekar; K H Nicolaides
Journal:  Ultrasound Obstet Gynecol       Date:  2016-04-27       Impact factor: 7.299

4.  Noninvasive prenatal testing (NIPT) in twin pregnancies with treatment of assisted reproductive techniques (ART) in a single center.

Authors:  Yueqiu Tan; Ya Gao; Ge Lin; Meili Fu; Xihong Li; Xuyang Yin; Juan Du; Jing Li; Wen Li; Huanhuan Peng; Yuying Yuan; Fang Chen; Fuman Jiang; Hongyun Zhang; Guangxiu Lu; Fei Gong; Wei Wang
Journal:  Prenat Diagn       Date:  2016-06-07       Impact factor: 3.050

5.  Monozygotic twins discordant for trisomy 21: Discussion of etiological events involved.

Authors:  Yao-Lung Chang; Wu-Pei Yi; An-Shine Chao; Kuan-Ju Chen; Po-Jen Cheng; Tzu-Hao Wang; Shuenn-Dyh Chang
Journal:  Taiwan J Obstet Gynecol       Date:  2017-10       Impact factor: 1.705

Review 6.  Performance of non-invasive prenatal screening for fetal aneuploidy in twin pregnancies: a meta-analysis.

Authors:  Hong Liao; Shanling Liu; He Wang
Journal:  Prenat Diagn       Date:  2017-08-14       Impact factor: 3.050

Review 7.  First trimester prenatal screening among women pregnant after IVF/ICSI.

Authors:  Anne Cathrine Gjerris; Ann Tabor; Anne Loft; Michael Christiansen; Anja Pinborg
Journal:  Hum Reprod Update       Date:  2012-04-20       Impact factor: 15.610

8.  Advanced maternal age and the risk of Down syndrome characterized by the meiotic stage of chromosomal error: a population-based study.

Authors:  P W Yoon; S B Freeman; S L Sherman; L F Taft; Y Gu; D Pettay; W D Flanders; M J Khoury; T J Hassold
Journal:  Am J Hum Genet       Date:  1996-03       Impact factor: 11.025

Review 9.  Nuchal translucency and other first-trimester sonographic markers of chromosomal abnormalities.

Authors:  Kypros H Nicolaides
Journal:  Am J Obstet Gynecol       Date:  2004-07       Impact factor: 8.661

10.  Aneuploidy screening by non-invasive prenatal testing in twin pregnancy.

Authors:  L Fosler; P Winters; K W Jones; K J Curnow; A J Sehnert; S Bhatt; L D Platt
Journal:  Ultrasound Obstet Gynecol       Date:  2017-04       Impact factor: 7.299

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