Noninvasive prenatal screening for cystic fibrosis using circulating trophoblasts: Detection of the 50 most common disease-causing variants

Objectives

Cystic fibrosis (CF) is one of the most common severe autosomal recessive disorders. Prenatal or preconception CF screening is offered in some countries. A maternal blood sample in early pregnancy can provide circulating trophoblasts and offers a DNA source for genetic analysis of both the mother and the fetus. This study aimed to develop a cell-based noninvasive prenatal test (NIPT) to screen for the 50 most common CF variants.

Methods

Blood samples were collected from 30 pregnancies undergoing invasive diagnostics and circulating trophoblasts were harvested in 27. Cystic fibrosis testing was conducted using two different methods: by fragment length analysis and by our newly developed NGS-based CF analysis.

Results

In all 27 cases, cell-based NIPT provided a result using both methods in agreement with the invasive test result.

Conclusion

This study shows that cell-based NIPT for CF screening provides a reliable result without the need for partner- and proband samples.     

华北与闽粤沿海及银川地震区(带)地震周期的划分与研究

按地震在空间上的相似活动过程排列的华北与闽粤沿海及银川地震区 (带 )地震活动周期表 ,以华北地震活动为主线 ,将公元前 2 80年咸阳 5 级地震至 1 988年 2月 2 5日彰武 4 8级地震间 2 2 6 7年的华北地震活动划分为 4个时间层次。其组合关系是 ,一个超长地震周期由初、前、主、余震期 4个地震期组成 ;除前震期只有一个地震周期外 ,初、主、余震期都包含前弱后强两个地震周期 ;每个地震周期多分为初、前、主、余震段 4个地震段。闽粤沿海地震区和银川地震带的主震段分别与华北初、余震段同期活动。地震周期是介于前人划分的地震幕与地震活动期之间一个新的更为重要的时间层次。华北 7个地震周期的起止时间是 :-2 80 .5 0～ 8.2 2～ 880 .1 2～ 1 337.6 9～ 1 5 6 8.37～ 1 730 .75～ 1 85 5 .95～ 1 988.1 5年。并从时空强 3方面阐述了华北地震周期性活动规律 ,分析了 3个地震区、带地震周期的相互关系。华北地震周期可作为标准地震周期与不同地区地震周期相对比 ,具有重要的预报意义