Hertz J M, Jensen P K, Henriques U, Maigaard S
Aarhus Universitet, Institut for Human Genetik.
Ugeskr Laeger. 1990 Jan 1;152(1):28-30.
If oligohydramnios, growth retardation or foetal malformations are demonstrated by ultrasonic scanning in the second or third trimesters, this implies that the risk of chromosome anomalies is significantly increased. In cases such as these, determination of the foetal karyotype may therefore be indicated. Until recently, amniocentesis has been employed for this but the results of the chromosome investigation are not available until two to three weeks after the intervention. The delay between amniocentesis and the result of chromosome investigation imposes a mental strain on the pregnant woman. Three patients with abnormal ultrasonic findings in the second trimester were, therefore, submitted to transabdominal chorion villus biopsy and, in all three cases, a karyotype was available within 48 hours. Chorion villus biopsy in the second (and third) trimester is indicated in pregnancies in which oligohydramnios, growth retardation or foetal malformations have been demonstrated by ultrasonic scanning, in cases where referral for antenatal diagnosis is very late and when chromosome investigation after amniocentesis proves unsuccessful and repeated amniocentesis would result in an unacceptably late result.
如果在孕中期或孕晚期超声扫描显示羊水过少、生长受限或胎儿畸形，这意味着染色体异常的风险显著增加。在这些情况下，因此可能需要确定胎儿核型。直到最近，一直采用羊膜穿刺术来进行此项检查，但染色体检查结果要在干预后两到三周才可得。羊膜穿刺术与染色体检查结果之间的延迟给孕妇带来精神压力。因此，对三名孕中期超声检查结果异常的患者进行了经腹绒毛取样，在所有三例中，48小时内就获得了核型。在超声扫描显示羊水过少、生长受限或胎儿畸形的妊娠中，在产前诊断转诊非常晚的情况下，以及羊膜穿刺术后染色体检查未成功且重复羊膜穿刺术会导致结果过晚而无法接受的情况下，孕中期（和孕晚期）的绒毛取样是必要的。
