Abstract：
The availability of cell-free (cf) DNA as a prenatal screening tool affords an opportunity for non-invasive identification of sex chromosome aneuploidy (SCA). The aims of this longitudinal study were to investigate the evolution and frequency of both invasive prenatal diagnostic testing, using amniocentesis and chorionic villus sampling (CVS), and the detection of SCA in cfDNA samples from a large unselected cohort in Northern Italy.
The results of genetic testing from CVS and amniotic fluid samples received from public and private centers in Italy from 1995 to 2021 were collected. Chromosomal analysis was performed by routine Q-banding karyotype. Regression analyses and descriptive statistics were used to determine population data trends regarding the frequency of prenatal diagnostic testing and the identification of SCA, and these were compared with the changes in indication for prenatal diagnostic tests and available screening options.
Over a period of 27 years, there were 13 939 526 recorded births and 231 227 invasive procedures were performed, resulting in the prenatal diagnosis of 933 SCAs. After the commercial introduction of cfDNA use in 2015, the frequency of invasive procedures decreased significantly (P = 0.03), while the frequency of prenatal SCA detection increased significantly (P = 0.007). Between 2016 and 2021, a high-risk cfDNA result was the indication for 31.4% of detected sex chromosome trisomies, second only to advanced maternal age.
Our findings suggest that the inclusion of SCA in prenatal cfDNA screening tests can increase the prenatal diagnosis of affected individuals. As the benefits of early ascertainment are increasingly recognized, it is essential that healthcare providers are equipped with comprehensive and evidence-based information regarding the associated phenotypic differences and the availability of targeted effective interventions to improve neurodevelopmental and health outcomes for affected individuals. © 2023 International Society of Ultrasound in Obstetrics and Gynecology.
The results of genetic testing from CVS and amniotic fluid samples received from public and private centers in Italy from 1995 to 2021 were collected. Chromosomal analysis was performed by routine Q-banding karyotype. Regression analyses and descriptive statistics were used to determine population data trends regarding the frequency of prenatal diagnostic testing and the identification of SCA, and these were compared with the changes in indication for prenatal diagnostic tests and available screening options.
Over a period of 27 years, there were 13 939 526 recorded births and 231 227 invasive procedures were performed, resulting in the prenatal diagnosis of 933 SCAs. After the commercial introduction of cfDNA use in 2015, the frequency of invasive procedures decreased significantly (P = 0.03), while the frequency of prenatal SCA detection increased significantly (P = 0.007). Between 2016 and 2021, a high-risk cfDNA result was the indication for 31.4% of detected sex chromosome trisomies, second only to advanced maternal age.
Our findings suggest that the inclusion of SCA in prenatal cfDNA screening tests can increase the prenatal diagnosis of affected individuals. As the benefits of early ascertainment are increasingly recognized, it is essential that healthcare providers are equipped with comprehensive and evidence-based information regarding the associated phenotypic differences and the availability of targeted effective interventions to improve neurodevelopmental and health outcomes for affected individuals. © 2023 International Society of Ultrasound in Obstetrics and Gynecology.
摘要：
目的：无细胞DNA（cfDNA）作为筛选工具的可用性为性染色体非整倍体（SCAs）的非侵入性鉴定提供了机会。这项从1995年到2021年的纵向研究调查了使用羊膜穿刺术（AF）和绒毛膜绒毛取样（CV）进行产前诊断测试的演变和频率。以及通过来自意大利北部一个大型队列的cfDNA样本检测SCA。
方法：收集了1995年至2021年从意大利公共和私人中心收集的CV和AF样本的基因检测结果。通过常规Q显带核型进行染色体分析。回归分析和描述性统计用于确定有关产前诊断测试频率和SCA识别的人口数据趋势，并与产前诊断测试适应症和可用筛查选项的变化相关。
结果：27年，进行了13,939,526例分娩和231,227例侵入性手术。这导致了934个SCA的产前诊断。在2015年商业引入cfDNA使用后，侵入性程序的频率显着下降（P=0.03）。产前SCA检测频率显著增加(P=0.007)。侵入性手术的适应症也从高龄母亲（AMA）转变为性染色体三体（SCT）的cfDNA阳性结果。
结论：我们的研究结果表明，在产前cfDNA筛查测试中纳入SCA可以增加受累个体的产前鉴定。随着人们越来越认识到早期确定的好处，至关重要的是,医疗保健提供者必须具备全面的循证信息,这些信息涉及相关的表型差异以及是否有针对性的有效干预措施,以改善受影响个体的神经发育和健康结局.本文受版权保护。保留所有权利。
方法：收集了1995年至2021年从意大利公共和私人中心收集的CV和AF样本的基因检测结果。通过常规Q显带核型进行染色体分析。回归分析和描述性统计用于确定有关产前诊断测试频率和SCA识别的人口数据趋势，并与产前诊断测试适应症和可用筛查选项的变化相关。
结果：27年，进行了13,939,526例分娩和231,227例侵入性手术。这导致了934个SCA的产前诊断。在2015年商业引入cfDNA使用后，侵入性程序的频率显着下降（P=0.03）。产前SCA检测频率显著增加(P=0.007)。侵入性手术的适应症也从高龄母亲（AMA）转变为性染色体三体（SCT）的cfDNA阳性结果。
结论：我们的研究结果表明，在产前cfDNA筛查测试中纳入SCA可以增加受累个体的产前鉴定。随着人们越来越认识到早期确定的好处，至关重要的是,医疗保健提供者必须具备全面的循证信息,这些信息涉及相关的表型差异以及是否有针对性的有效干预措施,以改善受影响个体的神经发育和健康结局.本文受版权保护。保留所有权利。
