Prenatal Implications in A Robertsonian Translocation Silent Carrier Female – A Case Report

Abstract

Robertsonian translocation (RT) involves the end-to-end fusion of two acrocentric chromosomes. RT between chromosome 21 and any other acrocentric chromosome can lead to infertility, early pregnancy miscarriages or the birth of a Down syndrome (DS) baby in silent carriers. DS is a genetic disorder characterised by distinct physical features and some degree of cognitive disability. Mainly there are three cytogenetic forms of DS – full trisomy 21, mosaic trisomy 21 and RT trisomy 21. However, genetic counselling and targeted prenatal diagnostic testing can help RT carriers give birth to a normal baby. With this, we present a case report where preconception and prenatal genetic counselling and testing helped a RT Carrier female give birth to a healthy child.