Non-invasive prenatal testing leading to a maternal diagnosis of Charcot-Marie-Tooth neuropathy.

Details

Serval ID
serval:BIB_250C664EBA51
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Non-invasive prenatal testing leading to a maternal diagnosis of Charcot-Marie-Tooth neuropathy.
Journal
Journal of human genetics
Author(s)
Kumps C., Niel Bütschi F., Rapin B., Baud D., Pescia G., Robyr D., Superti-Furga A., Unger S.
ISSN
1435-232X (Electronic)
ISSN-L
1434-5161
Publication state
Published
Issued date
11/2020
Peer-reviewed
Oui
Volume
65
Number
11
Pages
1035-1038
Language
english
Notes
Publication types: Journal Article
Publication Status: ppublish
Abstract
Non-invasive prenatal testing (NIPT) is increasingly used in routine practice due to its high sensitivity and specificity in detecting fetal chromosomal anomalies. Several reports have highlighted that NIPT can diagnose previously unsuspected malignancy or benign copy number variation in the expectant mother. We report a case in which NIPT detected a duplication involving the 17p11.2-17p12 region with possible Potocki-Lupski syndrome in the fetus. However, on further questioning, the mother revealed that she had Charcot-Marie-Tooth neuropathy type IA (CMT1A) and thus using array CGH, we were able to confirm that the 17p duplication was maternal in origin, included only the typical CMT1A region and that the fetus had a normal chromosome complement. Although it may be rare for a mother to have a pathogenic chromosome duplication/deletion, with the expansion in scope of NIPT from classic trisomies to global chromosome coverage and monogenic conditions, more examples of fortuitous maternal diagnosis will certainly be forthcoming and this should be taken into account during pre-test genetic counseling.
Pubmed
Web of science
Create date
06/07/2020 12:52
Last modification date
23/10/2020 5:23
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