Genzyme Genetics, Los Angeles, CA 90066, USA.
Prenat Diagn. 2010 Mar;30(3):198-206. doi: 10.1002/pd.2434.
We evaluated the trends in uptake of amniocentesis and chorionic villi sampling (CVS) for prenatal diagnosis compared with uptake of first and second trimester prenatal serum screening for Down syndrome among patients referred for genetic counseling for advanced maternal age (AMA).
Patients referred for AMA genetic counseling from 2001 through 2008 were informed of both prenatal serum screening and invasive diagnostic testing options. Testing offered and testing decisions were entered in a computer database and uptake rates calculated for each year with trends compared using logistic regression analysis.
From 2001 through 2007, we observed a decline in amniocentesis and CVS uptake (p = 0.0001). This trend reversed in 2008 for both invasive procedures (p = 0.0001). Uptake of prenatal serum screening increased over the study period with uptake of first trimester screening increasing 1.7 fold in 2008.
Improved prenatal screening tests and increased availability of screening for AMA patients has led to a steady decline in uptake of invasive testing from 2001 through 2007. This trend reversed from 2007 through 2008. Possible reasons for this reversal are discussed.
评估高龄产妇遗传咨询患者中，与唐氏综合征孕早期和孕中期血清筛查相比，羊膜腔穿刺术和绒毛膜取样（CVS）用于产前诊断的接受率随时间的变化趋势。
2001 年至 2008 年间，对因高龄行遗传咨询的患者介绍了孕早期和孕中期血清筛查及侵袭性诊断检测的选择。将提供的检测和检测决策输入计算机数据库，用逻辑回归分析比较每年的接受率，并分析趋势。
2001 年至 2007 年间，我们观察到羊膜腔穿刺术和 CVS 的接受率下降（p = 0.0001）。2008 年，两种侵袭性手术的趋势都发生了逆转（p = 0.0001）。在此研究期间，产前血清筛查的接受率不断增加，2008 年的孕早期筛查接受率增加了 1.7 倍。
由于产前筛查检测的改进以及对高龄产妇筛查的增加，2001 年至 2007 年间侵袭性检测的接受率稳步下降。这一趋势从 2007 年到 2008 年发生了逆转。对这种逆转的可能原因进行了讨论。
