Rizk B, Edwards R G, Nicolini U, Meagher S, Lamont R F
Bourn Hallam Medical Centre, Queen Charlotte's and Chelsea Hospital, London, United Kingdom.
Fertil Steril. 1991 Jan;55(1):208-10. doi: 10.1016/s0015-0282(16)54086-2.
A case of Edwards' syndrome after the replacement of frozen-thawed embryos is reported. The presence of cardiac abnormalities and limb deformities raised the suspicion of chromosomal abnormality. The diagnosis of trisomy 18 was made by cytogenetic analysis of fetal blood from the umbilical vein. The chromosomal nondisjunction might have been spontaneous or because of freezing and thawing. If it occurred as a result of freezing and thawing, it is more likely that this was at the first cleavage division rather than the second meiotic division because the embryos were frozen at the late pronuclear stage. Unfortunately, there were no karyotypic markers in the couple's chromosomes to time the nondisjunction. The wisdom of using donor oocytes in an ovum donation program from patients with long-standing infertility is questioned.
本文报道了一例冻融胚胎移植后发生爱德华兹综合征的病例。心脏异常和肢体畸形的出现引发了对染色体异常的怀疑。通过对脐静脉胎儿血液进行细胞遗传学分析,诊断为18三体综合征。染色体不分离可能是自发的,也可能是由于冻融所致。如果是冻融导致的,那么更有可能发生在第一次卵裂期而非第二次减数分裂期,因为胚胎是在原核晚期冷冻的。遗憾的是,这对夫妇的染色体中没有核型标记来确定不分离发生的时间。对于长期不孕患者在卵子捐赠项目中使用供体卵母细胞的合理性提出了质疑。