Familial 22q11.2 Deletion: Pregnancy Options and Management

Swapna Yaramareddy; Lakshmi Shanmugasundaram; Bibhas Kar

doi:10.1007/s40556-018-0189-8

Journal of Fetal Medicine, Table of Contents

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

¹Institute of Reproductive Medicine and Women’s Health, The Madras Medical Mission, 600037, Chennai, India

,

Lakshmi Shanmugasundaram

¹Institute of Reproductive Medicine and Women’s Health, The Madras Medical Mission, 600037, Chennai, India

,

Bibhas Kar

²Center for Genetics Studies and Research, The Madras Medical Mission, 600037, Chennai, India

› Author Affiliations

Abstract

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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

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