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CC BY-NC-ND 4.0 · Journal of Fetal Medicine
DOI: 10.1055/s-0044-1787015
Case Series

Detecting Mosaicism of Monosomy X Using FISH in Prenatal Samples: Post High Risk NIPT

Shiva Murarka
1   Department of Genomics, Neuberg Center for Genomic Medicine (NCGM)-A unit of Neuberg Supratech Reference Laboratories (NSRL), Ahmedabad, Gujarat, India
,
Debaashish Biswas
1   Department of Genomics, Neuberg Center for Genomic Medicine (NCGM)-A unit of Neuberg Supratech Reference Laboratories (NSRL), Ahmedabad, Gujarat, India
,
Samarth Bhatt
1   Department of Genomics, Neuberg Center for Genomic Medicine (NCGM)-A unit of Neuberg Supratech Reference Laboratories (NSRL), Ahmedabad, Gujarat, India
,
Krishna Mistry
1   Department of Genomics, Neuberg Center for Genomic Medicine (NCGM)-A unit of Neuberg Supratech Reference Laboratories (NSRL), Ahmedabad, Gujarat, India
,
Udhaya Kotecha
1   Department of Genomics, Neuberg Center for Genomic Medicine (NCGM)-A unit of Neuberg Supratech Reference Laboratories (NSRL), Ahmedabad, Gujarat, India
,
Parth Shah
1   Department of Genomics, Neuberg Center for Genomic Medicine (NCGM)-A unit of Neuberg Supratech Reference Laboratories (NSRL), Ahmedabad, Gujarat, India
2   Department of Pathology and Laboratory Medicine, Dartmouth Hitchcock Medical Center, Section of Hematology, Dartmouth Cancer Center, Dartmouth, United States
,
Sheetal Sharda 
1   Department of Genomics, Neuberg Center for Genomic Medicine (NCGM)-A unit of Neuberg Supratech Reference Laboratories (NSRL), Ahmedabad, Gujarat, India
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Abstract

Noninvasive prenatal testing (NIPT) is a highly specific and sensitive aneuploidy screening method with low false positive results. Sex chromosome aneuploidy (SCA) is not picked up in prenatal ultrasounds, as they may not have antenatally identifiable features, except for hydrops in monosomy X cases. Women with high risk NIPT results for SCAs are recommended to go for invasive prenatal diagnosis for confirmation by diagnostic tests like chromosome microarray, karyotyping, and/or fluorescence in situ hybridization (FISH). We present two cases that showed a high risk for monosomy X on NIPT. Chromosomal microarray was negative for SCA. Further, FISH was done to confirm the results and confirm the presence of low level mosaicism for monosomy X. FISH proves to be the test of choice to detect low level mosaicism in high risk NIPT cases with high positive predictive values.

Keywords

cell free fetal DNA - noninvasive prenatal testing - mosaicism - monosomy X


Publication History

Article published online:
03 June 2024

© 2024. 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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