Cytogenetic and Genetic counselling in couples with Infertility-Metropolis Healthcare experience

Shailesh Pande, Vidya Salaskar, Anurita Pais, Gauri Pradhan, Chaitali Parab, Yamini Jadhav, Smita Patil, Sunmeet Matkar


This retrospective study aimed at finding out the different chromosomal abnormalities and patterns in the samples. All the samples received at department of Cytogenetics, Metropolis Healthcare laboratory, Mumbai during the period of Jan2015 to Dec.2016 had a previous clinical history of primary infertility. One thousand one hundred and eighteen couples (1108 females and 1108 males) were evaluated by doing chromosomal karyotyping and 68 (3.06) patients showed chromosomal abnormality in the form of balanced translocations, Robertsonian translocations and sex chromosomal abnormalities. Most of the sex chromosomal abnormality in females were in the form of mosaic pattern whereas most of the sex chromosomal abnormality in males where in the form of numerical form. Genetic counselling is an integral part of dealing with patients with genetic abnormality and appropriate genetic counseling can help the patient to avoid the birth of chromosomally abnormal baby and also opens the option of reproduction considering the overall contribution of cytogenetic abnormalities it is very important to know the chromosomal pattern of the couple as a base line investigation before going for ARTs. This will avoid the costly expenses of ARTs of the patients and help to have a chromosomally normal baby


Infertility, genetic counselling, India, prevalence.

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