In't Veld P A, van Opstal D, Van den Berg C, Van Ooijen M, Brandenburg H, Pijpers L, Jahoda M G, Stijnen T H, Los F J
Department of Clinical Genetics, University Hospital Dijkzigt, The Netherlands.
Prenat Diagn. 1995 Oct;15(10):975-80. doi: 10.1002/pd.1970151014.
We studied 201 pregnancies that were established by in vitro fertilization and embryo transfer (IVF-ET) and compared the frequency of cytogenetic abnormalities with that found in a large control population matched for indication group (advanced maternal age) and time of sampling. A total of 252 IVF-ET fetuses were cytogenetically analysed by either chorionic villus sampling (CVS; n = 80) or amniocentesis (n = 172). Eleven chromosome abnormalities were found in the CVS group (13.8 per cent); among them, a 45,X/46,X,dic(Y)(q11)/46,X,del(Y)(q11) mosaic that was found in an IVF pregnancy established by intracytoplasmic sperm injection (ICSI), four cases of trisomy 21, and three cases of trisomy 7 confined to the placenta. The results indicate a statistically significant three- to five-fold increase in both confined placental abnormalities (P < 0.008) and true fetal chromosome anomalies (P < 0.04). In the amniocentesis group, identical rates (1.7 per cent) of chromosome abnormalities were found in the IVF-ET and control groups. It is concluded that late first trimester, but not early second trimester, IVF-ET pregnancies are characterized by an increased frequency of cytogenetic abnormalities found at prenatal diagnosis.
我们研究了201例通过体外受精和胚胎移植（IVF-ET）建立的妊娠，并将细胞遗传学异常的发生率与在匹配了指征组（高龄产妇）和采样时间的大型对照人群中发现的发生率进行了比较。总共252例IVF-ET胎儿通过绒毛取样（CVS；n = 80）或羊膜穿刺术（n = 172）进行了细胞遗传学分析。在CVS组中发现了11例染色体异常（13.8%）；其中，在通过卵胞浆内单精子注射（ICSI）建立的IVF妊娠中发现了一种45,X/46,X,dic(Y)(q11)/46,X,del(Y)(q11)嵌合体，4例21三体，以及3例局限于胎盘的7三体。结果表明，局限于胎盘的异常（P < 0.008）和真正的胎儿染色体异常（P < 0.04）在统计学上均有显著的三到五倍的增加。在羊膜穿刺术组中，IVF-ET组和对照组的染色体异常发生率相同（1.7%）。结论是，孕早期晚期而非孕中期早期的IVF-ET妊娠的特点是产前诊断时细胞遗传学异常的发生率增加。
