Preimplantation genetic diagnosis was carried out for embryonic analysis in a
patient with multiple endocrine neoplasia type 1 (MEN1). This is a rare
autosomal-dominant cancer syndrome and the patients with MEN1 are characterized
by the occurrence of tumors in multiple endocrine tissues, associated with
germline and somatic inactivating mutations in the MEN1 gene. This case report
documents a successful preimplantation genetic diagnosis (PGD) involving a
couple at-risk for MEN1 syndrome, with a birth of a healthy infant. The couple
underwent a cycle of controlled ovarian stimulation and intracytoplasmic sperm
injection (ICSI). Embryos were biopsied at the blastocyst stage and
cryopreserved; we used PCR-based DNA analysis for PGD testing. Only one of the
five embryos analyzed for MEN1 syndrome was unaffected. This embryo was thawed
and transferred following endometrial preparation. After positive βHCG
test; clinical pregnancy was confirmed by ultrasound, and a healthy infant was
born. PGD for single gene disorders has been an emerging therapeutic tool for
couples who are at risk of passing a genetic disease on to their offspring.
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