Trisomy 13 detection in the first trimester of pregnancy using a chromosome‐selective cell‐free DNA analysis method

Ajiša Hajrović ,
Ajiša Hajrović
Ibrahim Preljević ,
Ibrahim Preljević
Šefćet Hajrović ,
Šefćet Hajrović
Jasmin Nurković Orcid logo ,
Jasmin Nurković
Nebojša Milosavljević ,
Nebojša Milosavljević
Samra Hajrović
Samra Hajrović

Published: 01.12.2013.

Biochemistry

Volume 30, Issue 2 (2014)

pp. 1108-1111;

https://doi.org/10.5937/matmed1402108h

Abstract

Trisomy 13 (Sy Patau) is a clinically severe entity. 85% of the patients do not survive beyond one year, and most children die before completing six months of age. We report a female child, 30 day old, white, the third child of a non-consanguineous couple, who presented trisomy 13. The child was born at term, from a vaginal delivery, weighing 3200 g. The second day of life the development of respiratory distress translated ino KBC Kragujevac (release list no.29623). The initial clinical examination detected shisis primariy and secunday palate, ASD, stenosis rami AP, polidactily pedis dextri, microcornea and microftalmia. After 27 days of hospitalization in KBC Kragujevac, transferred to the Institute for mother and child New Belgrade, where he died after three days of receipt. During hospitalization blood samples were taken for determination of kariotip. Parents are advised that in case of subsequent pregnancies occur in the genetic counseling of the Institute for prenatal diagnosis.

Keywords

References

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