Monozygotic twins with discordant karyotypes following preimplantation genetic screening and single embryo transfer: case report

• Autoři: TAUWINKLOVÁ Gabriela; GAILLYOVÁ Renata; TRÁVNÍK Pavel; ORÁČOVÁ Eva; VESELÁ Kateřina; HROMADOVÁ Lenka; VESELÝ Jan; MUSILOVÁ Petra; RUBEŠ Jiří; KADLECOVÁ Jitka; SLÁMOVÁ Iva; MAKATUROVÁ Eva; VRANOVÁ Vladimíra
• Rok publikování: 2010
• Druh: Článek v odborném periodiku
• Časopis / Zdroj: J. Assist. Reprod. Genetics
• Fakulta / Pracoviště MU: Přírodovědecká fakulta
• Obor: Genetika a molekulární biologie
• Klíčová slova: Monozygotic twins; Preimplantation Genetic Screening (PGS); Apoptosis; Ring chromosome
• Popis: To report a case of monozygotic monochorial diamniotic twins with discordant karyotypes. The pregnancy was achieved following a treatment cycle with intracytoplasmic sperm injection (ICSI) and preimplantation genetic screening (PGS) for chromosomes X, Y, 13, 16, 18, 21, 22. One embryo euploid for studied chromosomes was transferred. Prenatal ultrasonography revealed monozygotic twins. One fetus had growth retardation, multiple organ abnormalities and polyhydramnion. The other twin had normal ultrasound appearance. Delivery on week 29 of gestation resulted in the birth of two females, a stillborn twin with karyotype 45,XX,-13[12]/46,XX,r(13)[3] and a healthy twin with normal karyotype. The discordance in the twins' karyotypes originated from a mosaic embryo. Structural chromosomal abnormality of the affected twin could not be revealed using standard PGS investigation. Embryo splitting occurred probably due to apoptotic process in an early stage of embryo development. Apoptosis represents one of the possible mechanisms which can explain the embryo twinning process globally.