Discordance for Cri du Chat Syndrome in a dichorionic-diamniotic twin pregnancy

Case Rep Womens Health. 2015 Jul 29:7:5-7. doi: 10.1016/j.crwh.2015.07.003. eCollection 2015 Jul.

Abstract

We report on the prenatal diagnosis through array CGH of a dichorionic–diamniotic (DC/DA) twins discordant for Cri du Chat Syndrome. Structural anomalies on one of the twins lead to amniotic fluid sampling, which revealed a partial deletion on the short arm of the chromosome 5. Selective feticide of the affected twin was performed at 34 + 1 weeks' and elective Cesarean section at 37 + 2 weeks. Postnatal cytogenetic analysis confirmed pre-natal genetic findings.

•Karyotype detected a terminal deletion of 5p of the affected twin, suggesting a Cri du Chat syndrome.•Array of CGH revealed a deletion of considerable size (26,7 Mb), ranging from 5p15.33 to p14.1.•Genetic councelling was given according to the region and size of 5p deleted, and selective feticide was agreed.•Selective feticide was successfully performed at 33 + 6 weeks, and the healthy twin was born by C-section at 37 + 2 weeks.

Keywords: 5p translocation; Cri du Chat; Léjéune; Selective termination.

Publication types

  • Case Reports