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J Pediatr Genet 2022; 11(03): 227-231
DOI: 10.1055/s-0040-1716828
Case Report

Triploidy in a Live-Born Extremely Low Birth Weight Twin: Clinical Aspects

Liliya Vakrilova
1   Department of Obstetrics and Gynecology, Medical University of Sofia, Sofia, Bulgaria
2   Neonatology Clinic, University Hospital of Obstetrics and Gynecology “Maichin Dom,” Sofia, Bulgaria
,
Stanislava Hitrova-Nikolova
1   Department of Obstetrics and Gynecology, Medical University of Sofia, Sofia, Bulgaria
2   Neonatology Clinic, University Hospital of Obstetrics and Gynecology “Maichin Dom,” Sofia, Bulgaria
,
Irena Bradinova
1   Department of Obstetrics and Gynecology, Medical University of Sofia, Sofia, Bulgaria
3   National Genetic Laboratory, University Hospital of Obstetrics and Gynecology “Maichin dom,” Sofia, Bulgaria
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Abstract

Triploidy is a rare chromosomal aberration characterized by a karyotype with 69 chromosomes. Triploid fetuses usually are miscarried in early pregnancy. We present a case of a triploid twin and a genetically unaffected co-twin, conceived through in vitro fertilization. A discordant growth was registered at 20 weeks of gestation. Cesarean section was performed at 355/7 gestational week. The second twin was extremely growth restricted female (780 g) with oligohydramnios and severe respiratory distress, and died at 20 hours of age. The autopsy revealed unilobar left lung, bilobar right lung, and cysts of the terminal bronchioles. Quantitative fluorescent polymerase chain reaction detected triploidy compatible pattern. So, early intrauterine growth restriction may be a sign of triploidy, which must be proven by pre or postnatal genetic testing.

Keywords

triploidy - intrauterine growth restriction - lung anomaly - twin pregnancy


Publication History

Received: 24 June 2020

Accepted: 17 August 2020

Article published online:
23 September 2020

© 2020. Thieme. All rights reserved.

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