Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
Prenat Diagn. 2011 Aug;31(8):765-72. doi: 10.1002/pd.2764. Epub 2011 Jun 21.
To analyze trends in the number and type of invasive procedure, reasons for referral, maternal age and chromosomal abnormalities over a 10-year period and correlate the trends to changes in the national prenatal screening policy.
Data from 10 706 invasive prenatal procedures yielding a full karyotype, performed between 2000 and 2009 were extracted from the cytogenetic database in the central region of The Netherlands. Trends were analyzed.
Over a 10-year period, the number of invasive procedures halved and the percentage of chromosomal abnormalities detected, increased from 5.5 to 9.4%. After 2007, however, 5.7% of karyotypes in women over 36 years were found to be abnormal, versus 18.1% in women below 36 years. In 2009, 71.5% of women over 36 are still referred for invasive prenatal diagnosis on the indication advanced maternal age.
Changes in prenatal screening policy significantly increased referral after screening and improved the efficacy of invasive prenatal diagnosis. We show the continuing effect of the different policies applied in the past to women below and above the age of 36. To further improve efficacy of invasive prenatal diagnosis, first trimester combination screening should be actively offered to women of all ages.
分析 10 年间侵袭性操作的数量和类型、转诊原因、产妇年龄和染色体异常的变化趋势，并将这些趋势与国家产前筛查政策的变化相关联。
从荷兰中部地区的细胞遗传学数据库中提取了 2000 年至 2009 年间进行的 10706 项侵袭性产前检查的完整核型数据。分析了这些趋势。
在 10 年间，侵袭性操作的数量减少了一半，染色体异常的检出率从 5.5%增加到 9.4%。然而，2007 年后，36 岁以上妇女的核型异常率为 5.7%，而 36 岁以下妇女的核型异常率为 18.1%。2009 年，71.5%的 36 岁以上妇女仍因高龄产妇的指征而被转诊进行侵袭性产前诊断。
产前筛查政策的变化显著增加了筛查后的转诊率，并提高了侵袭性产前诊断的效果。我们展示了过去对 36 岁以下和 36 岁以上妇女应用不同政策的持续影响。为了进一步提高侵袭性产前诊断的效果，应积极向所有年龄段的妇女提供早孕期联合筛查。
