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CC BY-NC-ND 4.0 · Journal of Fetal Medicine 2018; 05(04): 245-247
DOI: 10.1007/s40556-018-0189-8
Brief Communication

Familial 22q11.2 Deletion: Pregnancy Options and Management

Swapna Yaramareddy
1   Institute of Reproductive Medicine and Women’s Health, The Madras Medical Mission, 600037, Chennai, India
,
Lakshmi Shanmugasundaram
1   Institute of Reproductive Medicine and Women’s Health, The Madras Medical Mission, 600037, Chennai, India
,
Bibhas Kar 
2   Center for Genetics Studies and Research, The Madras Medical Mission, 600037, Chennai, India
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Abstract

DiGeorge syndrome (DGS) is caused by a submicroscopic deletion on the long arm of chromosome 22 and affects approximately 1 in 4000 persons. This report describes a familial 22q11.2 deletion diagnosed during pregnancy using an emerging technology, Bacterial artificial chromosome on Beads (BoBs). We discuss the implications of prenatally detected DGS and future options to prevent the recurrence.

Keywords

DiGeorge syndrome - Prenatal diagnosis - Prenatal BoBs


Publication History

Received: 08 June 2018

Accepted: 31 October 2018

Article published online:
08 May 2023

© 2018. Society of Fetal Medicine. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial-License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/)

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