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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 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 rearrangements among the carrier couples with a history of spontaneous abortion. Materials and methods: Cytogenetic evaluation of both the partners and the child revealed that the child had translocated Down’s syndrome and the mother was carrier of balanced Robertsonian translocation of 14q;21q. Amniocentesis of the next pregnancy and detection of chromosomal abnormality in the fetus were done by fluorescence in situ hybridization (FISH) analysis of the amniotic cells with 13,18,21,X,Y probe mix. Conclusion: The present case 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.

Invasive Pre- and Postnatal Genetic Evaluation reduces the Reproductive Risk in the Era of Noninvasive or Minimally Invasive Prenatal Screening Method