Gosden C, Buckton K, Fotheringham Z, Brock D J
Br Med J (Clin Res Ed). 1981 Jan 24;282(6260):255-8. doi: 10.1136/bmj.282.6260.255.
Prenatal karyotyping was undertaken in 569 consecutive amniotic fluid samples where the indication for amniocentesis was two sequential raised maternal serum alpha-fetoprotein concentrations. In 475 successful cultures five chromosome abnormalities were found--four constitutional anomalies (47,XXY; 47,XYY; an inherited inv(8) (p23q11); and a de-novo translocation t(6;7) (p11;p22) and a culture-derived anomaly (trisomy 2) found in amniotic fluid cells but not in the fetus aborted because it had spina bifida. Of the pregnancies complicated by constitutional abnormalities, only the pregnancy in which the de-novo translocation was detected was terminated. No chromosome abnormalities were detected in the 17 pregnancies which miscarried after amniocentesis. These results provide little justification for including fetal karyotyping as an essential part of maternal serum alpha-fetoprotein screening programmes.
对569例连续羊水样本进行了产前核型分析，这些样本的羊水穿刺指征是孕妇血清甲胎蛋白浓度连续两次升高。在475例成功培养中，发现了5例染色体异常——4例先天性异常（47,XXY；47,XYY；一种遗传性inv(8)(p23q11)；以及一种新发易位t(6;7)(p11;p22)）和一种在羊水细胞中发现但在因脊柱裂而流产的胎儿中未发现的培养衍生异常（21三体）。在合并先天性异常的妊娠中，仅检测到新发易位的妊娠被终止。在羊水穿刺后流产的17例妊娠中未检测到染色体异常。这些结果几乎没有理由将胎儿核型分析作为孕妇血清甲胎蛋白筛查项目的一个重要组成部分。
