Spontaneous abortion has been reported in 15 to 20% of all diagnosed pregnancies. The most common cause of spontaneous abortion is chromosomal abnormalities of the embryo. Robertsonian translocation (RT) is one of the major chromosomal rearrangements with a prevalence rate of 0.1% of the general population and 1% of the infertile population. Robertsonian translocation carriers, especially 21-14, are the most common balanced rearrangement among the carrier couples with a history of spontaneous abortion.

Cytogenetic analysis was carried out based on phytohemagglutinin-stimulated peripheral blood lymphocyte cultures and without phytohemagglutinin-stimulated amniocyte culture. Lymphocyte and amniocyte culturing and GTG banding were performed following standard protocols as described by the Association of genetic technologists (AGT) Cytogenetics Laboratory Manual.

Cytogenetic evaluation of both the partners and the child revealed that the child had translocated Down's syndrome and the mother was a carrier of balanced RT of 14q;21q. Amniocentesis of the next pregnancy and detection of chromosomal abnormality in the fetus was done by fluorescence in situ hybridization (FISH) analysis of the amniotic cells with 13,18,21,X,Y probe mix found normal chromosomal constituent in the fetus.

The present study shows that genetic counseling, cytogenetic evaluation, prenatal diagnosis by amniocentesis, and FISH together help couples with nonhomologous RT and history with syndromic child and repeated abortions to get normal offspring.

De P, Chakravarty S, Chakravarty A. Pre- and Postnatal Genetic Evaluation reduce the Reproductive Risk of nonhomologous Robertsonian Translocation Carrier Couple. Int J Infertil Fetal Med 2017;8(1):36-40.