Cytogenetics and Importance of Genetic Counselling in Recurrent Pregnancy Losses: Experience from Tertiary Care Laboratory

Loss of pregnancy either naturally or by medical termination is a destructive experience to the couple, especially those experiencing recurrent pregnancy losses (RPL). It is important to rule out the genetic aspect as the cause of pregnancy wastages. This retrospective study aimed to determine the frequency of chromosomal abnormalities and its various cytogenetic types in the samples received by Metropolis Healthcare laboratory, Mumbai. This study was conducted on the samples referred for chromosomal karyotyping with a history of Bad Obstetric History (BOH). The couples who had an experience of two or more pregnancy losses were included in this study. Out of the 2102 samples referred, chromosomal abnormality was recorded in 384 (18.27%) cases. Out of chromosomal abnormal cases, 126 (5.99%) patients had reciprocal translocations out of which 27 (21.43%) were Robertsonian translocations. Inversion of chromosome 9 was seen in 81 (21.09%) patients, while inversion Y in 28 (7.29%) patients,  and polymorphic variation like increase in length of satellite or heterochromatic region recorded in almost 149 (38.30%) patients. Cytogenetic evaluation of couples with recurrent pregnancy losses (RPL) is very important as after knowing the parental chromosomal pattern appropriate counseling can be offered to know the risk of recurrence, option of prenatal diagnosis and also opens the option of reproduction in some cases. This will also help them to have a cytogenetically healthy baby. Since the cytogenetic abnormalities are usually familial, the close blood relatives may also be benefited once the abnormality is detected.