Cheng Po-Jen, Chang Shuenn-Dhy, Shaw Sheng-Wen, Soong Yung-Kuei
Department of Obstetrics and Gynecology, Chang Gung Memorial Hospital, Taipei, Taiwan.
Obstet Gynecol. 2005 May;105(5 Pt 1):1058-62. doi: 10.1097/01.AOG.0000158862.84467.d7.
To investigate differences in nuchal translucency thickness among fetuses in which either parent is a balanced chromosome translocation carrier.
A prospective observational study was conducted with 98 pregnant women in the first trimester. Each had been advised to undergo chorionic villous sampling for fetal karyotyping for the indication of parental balanced chromosomal translocation. Fetal nuchal translucency measurement was performed before chorionic villous sampling. Nuchal translucency thickness was compared among fetuses with 3 kinds of karyotypes: normal, balanced translocation, and unbalanced translocation.
There were no differences in maternal age, gestational age, parity, and number of previous miscarriages among pregnancies with normal karyotype, balanced chromosomal translocation, and unbalanced chromosomal translocation. A significantly greater nuchal translucency thickness was shown in the unbalanced chromosomal translocation group (2.9 +/- 1.2 mm) compared with both the balanced chromosomal translocation group (1.0 +/- 0.6 mm; P < .001) and the normal karyotype group (1.0 +/- 0.8 mm; P < .001). No statistically significant difference in nuchal translucency thickness was found between the balanced chromosomal translocation group and normal karyotype group (P = .991). Nuchal translucency thickness did not differ significantly between unbalanced chromosomal translocation dependent on paternal origin and that dependent on maternal origin (P = .611).
In fetuses with unbalanced chromosomal translocation, nuchal translucency thickness tends to be greater, and thus nuchal translucency measurement might be considered part of the investigation for pregnancies marked by a parental balanced chromosomal translocation.
探讨父母一方为染色体平衡易位携带者的胎儿颈部透明带厚度的差异。
对98例孕早期孕妇进行前瞻性观察研究。因父母染色体平衡易位，均建议她们进行绒毛取样以检测胎儿核型。在绒毛取样前测量胎儿颈部透明带。比较3种核型胎儿的颈部透明带厚度：正常、平衡易位和不平衡易位。
正常核型、染色体平衡易位和染色体不平衡易位妊娠的孕妇年龄、孕周、产次及既往流产次数无差异。与染色体平衡易位组（1.0±0.6mm；P<.001）和正常核型组（1.0±0.8mm；P<.001）相比，染色体不平衡易位组的颈部透明带厚度显著增加（2.9±1.2mm）。染色体平衡易位组与正常核型组之间的颈部透明带厚度无统计学差异（P=.991）。父源染色体不平衡易位组和母源染色体不平衡易位组的颈部透明带厚度无显著差异（P=.611）。
染色体不平衡易位胎儿的颈部透明带厚度往往更大，因此，对于父母染色体平衡易位的妊娠，颈部透明带测量可作为检查的一部分。
