Lewi Liesbeth, Blickstein Isaac, Van Schoubroeck Dominique, Gloning Karl-Philipp, Casteels Martine, Brandenburg Helen, Fryns Jean-Pierre, Deprest Jan
Department of Obstetrics and Gynecology, University Hospitals, Leuven, Belgium.
Am J Med Genet A. 2006 Feb 1;140(3):272-5. doi: 10.1002/ajmg.a.31052.
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.
对连续6例异核型单绒毛膜双胎的诊断、处理及结局进行了评估。所有基于超声检查结果不一致而怀疑的病例，均对两个羊膜囊进行了羊膜腔穿刺术。2例还进行了绒毛取样（CVS）。在诊断异核型单绒毛膜双胎方面，双羊膜腔穿刺术优于绒毛取样。4例涉及X染色体，其他病例存在常染色体非整倍体。5例中，异常胎儿通过脐带凝固术被选择性减胎。所有妊娠均以表型正常的活产儿结束，所有儿童在1至7岁时发育正常。
