PGD by aCGH and QF-PCR in a couple with recurring aneuploidies

Abstract

This case report describes a PGS study perfomed on a blastocyst stage of a 44 year old female and 46 year old male couple with a history of recurrent aneuploid abortions. The main purpose of this report is to determine, by using STRs and QF-PCR, the parental origin of the aneuploidies found on the embryos aCGH karyotype. Only one blastocyst of the eight biopsed resulted cytogenetically normal and it was transferred in a deferred cycle. The patient achieved the pregnancy and delivered at term a normal male child. In 30 of the 38 aneuploidies identified we could determine the parental origin: eight maternal trisomies, eight paternal trisomies and 14 maternal monosomies. Five of the eight maternal trisomies showed an allelic pattern malsegregation1:1:1 and three showed the pattern 2:1. The same segregation patterns were observed for the paternal origin trisomies. We conclude that the aneuploidies were contributed by bothmembers of the couple in equal proportions. This outcome compels us to reflect that caution is required when we are offering oocyte donation in a women older than 40 years who has a partner of the similar age. © Todos os direitos reservados a SBRA - Sociedade Brasileira de Reprodução Assistida.