An engaging case report which highlights the development in fertility care, where genetic counselling and targeted prenatal diagnostic testing can help Robertsonian translocation (RT) carriers give birth to a normal baby. The study is published in Fertility Science and Research journal by Scientific Scholar.

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. 

Medical Dialogues team interacted with the lead author of the study, Dr Inder Mohan Singh Sandhu from the Department of Genetics, Sri Guru Ram Das Institute of Medical Sciences & Research, SGRDUHS, Amritsar, India

Dr Sandhu provided insights on the following- 

1.    What is Robertsonian Translocation and what is its clinical significance?

2. What are the different types of chromosomal abnormalities, specially Down Syndrome?

3. What role does genetic counselling plays in clinically handling such congenital abnormalities and what advice is given for expecting parents?

4. How was the experience in publishing with Fertility Science and Research and how has this journal contributing to your field of expertise?