Obstetrics and Gynecology, Center for Prenatal Diagnosis Kudamm-199, Berlin.
Ultraschall Med. 2011 Jun;32(3):302-6. doi: 10.1055/s-0029-1245560. Epub 2010 Oct 22.
To evaluate the acceptance of noninvasive screening for trisomy 13, 18, 21 and the impact on invasive testing rates in women at an age≥35 years.
In a retrospective analysis from 2003-2006 including 13 268 women≥35 years old with singleton pregnancies and 3133 invasive procedures, we evaluated the prenatal detection rate of aneuploidies in two cohorts. Group 1: advanced maternal age as sole indication, group 2: additional abnormalities and/or suspicious maternal serum parameters. In an additional analysis from 1998-2006 including 31,076 patients≥35 years, we investigated the shift in time of sonography at 11+0-13+6, 14+0-17+6 and 18+0-22+6 gestational weeks (gw).
Among 13,268 women, 3133 invasive tests were performed with a significant decrease over time (-17%). 9% of women chose invasive testing after a normal ultrasound (group 1, n=1,267) and 14% in the case of additional markers (group 2, n=1,866). 102 cases of aneuploidy were disclosed. The proportion of detected aneuploidies was 0.86% in group 1 and 4.9% in group 2. No change in the overall detection rate (90-93%) was observed. The number of patients≥40 years increased significantly (+2.8%). There was an increase in examinations at 11+0-13+6 gw (+8%), a decrease at 14+0-17+6 gw (-10.3%) and no significant change at 18+0-22+6 gw over time.
Increasing numbers of women≥35 years of age rely on the individually adjusted risk figure to make a decision about invasive testing. The application of these selective procedures can reduce the rates of invasive testing with fewer losses of normal fetuses and led to an earlier diagnosis of aneuploidies.
评估非侵入性筛查 13、18、21 三体的接受程度，并评估其对 35 岁以上孕妇行侵入性检测率的影响。
在 2003 年至 2006 年的回顾性分析中，我们纳入了 13268 名年龄≥35 岁的单胎妊娠孕妇，共 3133 例侵袭性操作，对两组的染色体非整倍体产前检出率进行了评估。第 1 组：高龄为唯一指征；第 2 组：存在其他异常和/或可疑的母体血清学参数。在 1998 年至 2006 年的另一项回顾性分析中，纳入了 31076 名年龄≥35 岁的患者，对 11+0-13+6、14+0-17+6 和 18+0-22+6 孕周的超声检查时间进行了研究。
在 13268 名孕妇中，有 3133 例接受了侵袭性检测，且检测数量随时间显著减少（-17%）。9%的孕妇在正常超声检查后选择了侵袭性检测（第 1 组，n=1267），14%的孕妇在存在其他标志物时选择了侵袭性检测（第 2 组，n=1866）。共发现 102 例染色体非整倍体。第 1 组的染色体非整倍体检出率为 0.86%，第 2 组为 4.9%。总的染色体非整倍体检出率（90-93%）没有变化。≥40 岁的患者数量显著增加（+2.8%）。11+0-13+6 孕周的检查数量增加（+8%），14+0-17+6 孕周的检查数量减少（-10.3%），18+0-22+6 孕周的检查数量没有明显变化。
越来越多的年龄≥35 岁的孕妇依靠个体化的风险评估来决定是否行侵袭性检测。这些选择性操作的应用可以降低侵袭性检测的比例，减少正常胎儿的丢失，并能更早地诊断出染色体非整倍体。
