Department of Obstetrics and Gynecology, Yokohama City University Hospital, Yokohama, Kanagawa, Japan.
Department of Biostatistics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan.
J Obstet Gynaecol Res. 2022 Sep;48(9):2385-2391. doi: 10.1111/jog.15342. Epub 2022 Jun 28.
The number of babies born with Down syndrome has changed in recent years because of widespread availability of prenatal screening and advanced maternal age at delivery. In Japan, which has no public institutions that record data on babies born with chromosomal abnormalities (including Down syndrome), the accurate number remains unknown.
The Japan Association of Obstetricians and Gynecologists Birth Defects Monitoring Program (hereafter the JAOG Program) is the only national survey of congenital anomalies in Japan. Using data from this survey and vital statistics, we investigated the changes in the number of babies born with Down syndrome in Japan from 2006 to 2019.
On performing linear regression analysis with the proportion of babies born with Down syndrome as the response variable, and the proportion of mothers giving birth at the age of 35 years or older as the explanatory variable, the regression coefficient was 0.0054 (p < 0.001). The proportion of mothers giving birth at the age of 35 years or older was useful for predicting the proportion of babies born with Down syndrome. This proportion has increased since 2006 but has remained almost unchanged since 2015. In 2019, it was 1/734.
This study revealed that the proportion of mothers giving birth at the age of 35 years or older strongly affected the proportion of babies born with Down syndrome. We assume that the proportion of babies is slightly affected by the increased number of pregnant women currently undergoing prenatal screening after the introduction of noninvasive prenatal genetic testing in 2013.
由于产前筛查的广泛应用和产妇分娩时的高龄化,近年来唐氏综合征患儿的出生率有所变化。在日本,没有记录染色体异常(包括唐氏综合征)患儿数据的公共机构,因此确切数量仍不得而知。
日本妇产科医师协会出生缺陷监测计划(以下简称 JAOG 计划)是日本唯一一项全国性的先天性畸形调查。利用该调查和生命统计数据,我们调查了日本 2006 年至 2019 年唐氏综合征患儿数量的变化。
以唐氏综合征患儿的比例作为因变量,以 35 岁及以上产妇的比例作为自变量进行线性回归分析,回归系数为 0.0054(p<0.001)。35 岁及以上产妇的比例可用于预测唐氏综合征患儿的比例。该比例自 2006 年以来一直在上升,但自 2015 年以来几乎保持不变。2019 年,这一比例为 1/734。
本研究表明,35 岁及以上产妇的比例对唐氏综合征患儿的比例有很大影响。我们假设,由于 2013 年非侵入性产前基因检测的引入,目前进行产前筛查的孕妇数量增加,对比例略有影响。