Drugan A, Johnson M P, Reichler A, Hume R F, Itskovicz-Eldor J, Evans M I
Department of Obstetrics, Rambam Medical Center, Haifa, Israel.
Obstet Gynecol. 1996 Aug;88(2):203-6. doi: 10.1016/0029-7844(96)00134-2.
To determine the impact of the presence or absence of minor ultrasound anomalies for the risk of aneuploidy in patients already at high risk because of advanced maternal age.
Eleven hundred forty-four women having amniocentesis for advanced maternal age were divided into those with minor ultrasound anomalies (n = 62) and those without (n = 1082). Two hundred fifty-nine women younger than 35 years but with minor anomalies on ultrasound were also included.
Fetal aneuploidy was found in six of 62 (9.7%) women of advanced maternal age with minor ultrasound anomalies, in five of 1082 (0.5%) women older than 35 years with normal ultrasound results, and in five of 259 (1.9%) women younger than 35 years with minor ultrasound anomalies.
Minor ultrasound anomalies increase considerably the risk of aneuploidy in women older than 35 years, and their absence lowers that risk slightly. Minor ultrasound anomalies in the fetuses of women younger than 35 raises their risk to that of a 39-year-old women in her second trimester. Ultrasound can be used to modify genetic risks at counseling and may help patients in their decision to have invasive testing.
确定对于因母亲年龄偏大已处于高风险的患者，轻微超声异常的有无对非整倍体风险的影响。
1144名因母亲年龄偏大而接受羊膜穿刺术的女性被分为有轻微超声异常的（n = 62）和无轻微超声异常的（n = 1082）两组。还纳入了259名年龄小于35岁但有轻微超声异常的女性。
62名母亲年龄偏大且有轻微超声异常的女性中有6名（9.7%）被发现胎儿非整倍体，1082名年龄大于35岁且超声结果正常的女性中有5名（0.5%）被发现胎儿非整倍体，259名年龄小于35岁且有轻微超声异常的女性中有5名（1.9%）被发现胎儿非整倍体。
轻微超声异常会显著增加35岁以上女性非整倍体的风险，而无轻微超声异常则会使该风险略有降低。35岁以下女性胎儿的轻微超声异常会将其风险提高到孕中期39岁女性的风险水平。超声可用于在咨询时调整遗传风险，并可能帮助患者做出是否进行侵入性检测的决定。
