Pijpers L, Jahoda M G, Reuss A, Wladimiroff J W, Sachs E S
Department of Obstetrics and Gynaecology, University Hospital Rotterdam-Dijkzigt, The Netherlands.
BMJ. 1988 Oct 1;297(6652):822-3. doi: 10.1136/bmj.297.6652.822.
Transabdominal chorionic villus biopsy is an established method of obtaining material for analysing fetal chromosomes in the first trimester of pregnancy but has not been widely used for karyotyping in the second and third trimesters, when rapid results are required. The technique was evaluated in two groups of patients, comprising 106 at risk of having a fetus with chromosomal anomalies (105) or X linked disease (one) studied between 13 and 22 weeks (median 15 weeks) of gestation (group 1) and 21 with abnormal fetal findings on ultrasonography studied between 13 and 38 weeks (median 27 weeks) (group 2). Chorionic tissue was collected at the first attempt in 109 patients and at the second attempt in a further 17 independent of the position of the placenta. In one case from group 1 sufficient material for analysis could not be obtained. Seven abnormal karyotypes (six in group 1 and one in group 2) were diagnosed. Karyotyping was unsuccessful in two cases in group 1 (at 17 and 18 weeks' gestation) and in two in group 2 (at 29 and 38 weeks' gestation). Follow up of group 1 four weeks after sampling showed no signs of adverse fetal development apart from one unexplained intrauterine fetal death. The findings suggest that chorionic sampling is a safe and valuable additional technique for the late detection of chromosomal defects.
经腹绒毛取样是一种获取材料以分析孕早期胎儿染色体的既定方法，但在需要快速结果的孕中期和孕晚期，尚未广泛用于核型分析。该技术在两组患者中进行了评估，第一组包括106例有胎儿染色体异常风险（105例）或X连锁疾病风险（1例）的患者，在妊娠13至22周（中位15周）进行研究（第1组）；第二组包括21例超声检查发现胎儿异常的患者，在妊娠13至38周（中位27周）进行研究（第2组）。109例患者在首次尝试时采集到了绒毛组织，另有17例在第二次尝试时采集到了绒毛组织，与胎盘位置无关。第1组中有1例未能获得足够的分析材料。共诊断出7例异常核型（第1组6例，第2组1例）。第1组有2例（妊娠17周和18周时）以及第2组有2例（妊娠29周和38周时）核型分析未成功。对第1组取样四周后的随访显示，除1例原因不明的宫内胎儿死亡外，未发现胎儿发育不良的迹象。研究结果表明，绒毛取样是一种安全且有价值的辅助技术，可用于晚期染色体缺陷的检测。
