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Preimplantation genetic diagnosis (PGD) is the selective process undertaken during the in vitro fertilisation (IVF) procedure to diagnose genetic abnormalities in the embryos using various genetic techniques and implant only those embryos that are devoid of genetic abnormalities. It was established in the 1990s and is still a developing technology in India. This review summarizes the need for widespread and competent PGD centres equipped with advanced diagnostic techniques to reduce disease burden upon the country's economy and the requirement for sufficient education of the general population on the advantages of PGD. Issues such as high frequency of consanguinity and genetic disorders such as hemoglobinopathies especially thalassemia can be addressed with the use of PGD. There also needs to be awareness campaigns that help enhance knowledge in this field to improve its use such as reducing the dilemma of increased congenital anomalies in consanguineous unions and prevent its misuse such as preimplantation sex selection and sex based discrimination.

A patient presenting with azoospermia was referred for genetic evaluation, and upon karyotyping, he was revealed to have two cell lines—mos46,X,ider(Y)(q10)inv(Y)(p11.3q11.1)/45,X. Further cytogenetic studies such as C banding and fluorescence in situ hybridization were performed, which revealed an inversion duplication of a segment of the Y chromosome; hence, the derivative chromosome contained two SRY genes but only one centromere. Y chromosome microdeletion studies were performed in select STS sequences of AZFa, AZFb and AZFc regions and found to be negative for microdeletions. For such a case of infertility, the couple was advised to undergo artificial reproductive techniques with the help of donor spermatozoa.

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