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CC BY-NC-ND 4.0 · Journal of Fetal Medicine
DOI: 10.1055/s-0044-1780493
Case Series

Heterokaryotypic Monochorionic Twin Pregnancy: New Perspective

Ashutosh Gupta
1   Department of Foetal Medicine & Medical Genetics, Artemis Hospitals, Gurgaon, Haryana, India
,
Anjila Aneja
2   Department of Minimal Access Surgery (Gynecology), Fortis Memorial Research Institute, Gurgaon, Haryana, India
,
Neena Bahl
2   Department of Minimal Access Surgery (Gynecology), Fortis Memorial Research Institute, Gurgaon, Haryana, India
,
Rupam Arora
3   Department of Obstetrics & Gynecology, Max Balaji Hospital, New Delhi, India
,
Renu Raina Sehgal
4   Department of Obstetrics & Gynecology, Artemis Health Institute, Gurgaon, Haryana, India
,
Pankaj Saini
5   Department of Radiology, Manipal Hospitals, Delhi, India
› Author Affiliations Funding None.
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Abstract

Monozygotic twins are thought to be identical since they are created from a single fertilized egg, yet there may be differences in their congenital defects, birth weight, and genetic makeup. Asymmetric X chromosome inactivation, unequal gene imprinting, and postzygotic mitotic mistakes including nondisjunction and anaphase lag can all result in heterokaryotypic monochorionic twins. We report a monochorionic twin pregnancy that exhibited stigmata associated with trisomy 18 on postnatal examination despite a low risk of common aneuploidy (trisomy 18) on noninvasive prenatal screening. Short tandem repeat markers were used for postnatal examination to confirm high-grade mosaicism. These markers indicated mosaic trisomy 18 in twin II and normal in twin I, ruling out uniparental disomy and establishing monozygosity in both fetuses. Twin sac amniocentesis is a prenatal diagnostic procedure that can be used to identify discrepant monochorionic twins because chorionic villus sampling, single sac amniocentesis, or cordocentesis may not be able to rule out aneuploidy in the second fetus and may yield a false-negative result. For prompt zygosity diagnosis, chromosomal complement, genetic counseling, and referral for selective fetal reduction, twin sac amniocentesis is recommended.

Keywords

heterokaryotypic - monozygotic twins - mosaicism - twin sac - amniocentesis


Publication History

Article published online:
16 April 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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