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CC BY-NC-ND 4.0 · Journal of Fetal Medicine 2023; 10(01): 023-028
DOI: 10.1055/s-0043-57021
Research Article

Practical Applications of Chromosomal Microarray in Prenatal Diagnosis

Seema Thakur 
1   Department of Genetic and Fetal Diagnosis, Fortis Hospital, New Delhi, India
2   Department of Fetal Medicine, Rainbow Children Hospital, Delhi, India
,
Chanchal Singh 
2   Department of Fetal Medicine, Rainbow Children Hospital, Delhi, India
,
Preeti Paliwal
3   Center of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India
,
Ghazala Shahnaaz
2   Department of Fetal Medicine, Rainbow Children Hospital, Delhi, India
,
Savita Dagar
2   Department of Fetal Medicine, Rainbow Children Hospital, Delhi, India
,
Manish Mallik
4   Department of Radiology, Fortis Hospital, New Delhi, India
,
Puneet Jain
4   Department of Radiology, Fortis Hospital, New Delhi, India
,
Vineet Sethia
4   Department of Radiology, Fortis Hospital, New Delhi, India
› Author Affiliations Funding None.
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Abstract

G-banded karyotyping is the most common approach for the detection of genomic alterations. However, this is unable to detect genomic changes of less than 5 Mb. The ability of fluorescence in situ hybridization (FISH) to detect cryptic chromosomal rearrangements exceeds the resolution of routine karyotype. However, conventional FISH is for targeted regions only, whereas the chromosomal microarray is a whole-genome copy number evaluation technique with a resolution of 10 to 20 kb. In this article, we discuss the application of chromosomal microarray 750 K to 384 consecutive prenatal diagnosis cases. Overall diagnostic yield is 15.36%, and chromosomal microarray accounts for a 3.6% additional detection rate. We suggest applying this technique in routine prenatal diagnosis as a first-tier test in prenatal diagnosis along with a backup culture in all cases.

Keywords

advanced maternal age - chromosomal microarray - fetal anomaly - noninvasive prenatal screening - prenatal diagnosis

Ethics Committee Statement

We did not take ethics committee permission as this was a retrospective study. We took consent from all participants before doing testing.




Publication History

Article published online:
12 May 2023

© 2023. 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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