The diagnosis, management, and outcome of six consecutive heterokaryotypic monochorionic twins were evaluated. All suspected cases, based on discordant ultrasound findings, underwent amniocentesis of both sacs. Two cases also had chorionic villous sampling (CVS). Dual amniocentesis was superior to CVS in diagnosing heterokaryotypic monochorionic twins. In four cases, the X-chromosome was involved and autosomal aneuploidy was noted in the others. In five cases, the anomalous twin was selectively reduced by cord coagulation. All pregnancies ended with a phenotypically normal liveborn and all children are developing normally at 1-7 years of age.

Cord coagulation, Discordant anomaly, Heterokaryotypic monochorionic twins,
American Journal of Medical Genetics. Part A
Department of Gynaecology & Obstetrics

Lewi, P.J, Blickstein, I, van Schoubroeck, D, Gloning, K.-P, Casteels, M, Brandenburg, H, … Deprest, J. (2006). Diagnosis and management of heterokaryotypic monochorionic twins. American Journal of Medical Genetics. Part A, 140 A(3), 272–275. doi:10.1002/ajmg.a.31052