Hsieh F J, Hsu H C, Ko T M, Chang F M, Chen H Y, Jean H H, Chuang S M
Department of Obstetrics & Gynecology, National Taiwan University Hospital, Taipei, Republic of China.
Acta Obstet Gynecol Scand. 1988;67(7):621-5. doi: 10.3109/00016348809004275.
Prenatal karyotyping of fetuses having an abnormal sonogram was undertaken in 27 pregnancies between 17 and 39 weeks, using fetal blood obtained by percutaneous umbilical cord blood sampling under ultrasound guidance. Eight chromosomal abnormalities (29.7%) were detected, including 45, X (2 cases), trisomy 21(1 case), 46, XY,-13,+t(13,13) (1 case), 47, XX,+18(3 cases), 47, XXY (1 case). Nineteen fetuses had a normal karyotype (46,XX:9 cases, 46,XY:10 cases). The fetal karyotype was available within 72 h and fetal management was planned accordingly. We concluded that in fetuses with an abnormal sonogram, rapid karyotyping using fetal blood obtained under ultrasound guidance had important implications in obstetric and neonatal management and would facilitate genetic counselling.
对27例孕17至39周超声检查异常的胎儿进行产前核型分析，采用超声引导下经皮脐血穿刺采集胎儿血液。共检测出8例染色体异常（29.7%），包括45,X（2例）、21三体（1例）、46,XY,-13,+t(13,13)（1例）、47,XX,+18（3例）、47,XXY（1例）。19例胎儿核型正常（46,XX：9例，46,XY：10例）。72小时内可获得胎儿核型结果，并据此制定胎儿管理方案。我们得出结论，对于超声检查异常的胎儿，超声引导下采集胎儿血液进行快速核型分析对产科和新生儿管理具有重要意义，有助于遗传咨询。
