Genetics of Recurrent and Spontaneous Miscarriage

The aim was to find out the genetic basis of recurrent spontaneous abortion (RSA) from the past pregnancies and ensure a more favourable outcome in the current or future pregnancy. Pregnancy loss has always been a devastating experience for the mothers and the clinician of concern. One out of four pregnancies ends in miscarriage. It is estimated that 50-60% of all first trimester pregnancy losses are the cause of chromosomal abnormality. 8 couples were selected with the history of Recurrent Spontaneous fetal loss and were suggested ultrasound scan while no such abnormalities were found, hence further we asked for cytogenetic procedure for detection of chromosomal abnormalities by the method karyotyping. We discovered 45;X/46;XX, 45;X/46;XY and 46;XX/46;XY in female partners and 46;XX/46;XY, 46;XY/47;XXY mosaicism in male partners. Two unique balanced translocations in females such as 46;XX,t(5q35:8q24) and46;XX,t(14q:21q) and a single balanced translocation in male partner 46;XY,t(6q:8p) with reproductive failure. A case of Robertsonian translocation carrier in female partner with karyotype of 45,XX,rob(14q.21q).Single case of 45,X/46,XY in male partner. We also observed three cases with deletion in long arm of chromosome Y