Prenatal Implications in A Robertsonian Translocation Silent Carrier Female– A Case Report: Ft. Dr Inder Mohan Singh Sandhu​

Genetic workup, including genetic counselling and testing, should be done for every infertile couple, especially in case of unexplained infertility, reveals a recent case report published in the Fertility Science and Research Journal published by Scientific Scholar. 

Robertsonian translocation (RT) involves the end-to-end fusion of two acrocentric chromosomes. Robertsonian translocation 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. Down syndrome is a genetic disorder characterised by distinct physical features and some degree of cognitive disability. Mainly there are three cytogenetic forms– full trisomy 21, mosaic trisomy 21 and Robertsonian translocation trisomy 21. However, genetic counselling and targeted prenatal diagnostic testing can help RT carriers give birth to a normal baby.

Genetic testing could help in identifying silent carriers in the population. Prenatal diagnostics have helped a number of couples fulfil their dream of a genetically healthy baby. The right selection of diagnostic tests at appropriate gestation is the key to avoiding false positives and checking false negatives. Pre-test and post-test genetic counselling sessions are extremely important and necessary for the right selection and interpretation of these tests. Though the silent carriers of structural chromosomal aberrations have low chances of normal pregnancy outcomes, appropriately timed genetic counselling and prenatal genetic testing can help such patients deliver healthy progeny with a less stressful prenatal journey.