The discovery of cell-free fetal DNA (cffDNA) in maternal blood and the rapid development of
massively parallel sequencing have revolutionized prenatal testing from invasive to …

Maternal‐fetal medicine (FM) is currently a highly demanding branch and is gaining
importance as increasing number of genetic disorders rise in incidence. Prenatal testing …

Background Noninvasive prenatal testing (NIPT) was developed to improve the accuracy of
prenatal screening to detect chromosomal abnormalities. Published economic analyses …

Background Down syndrome (DS), also known as trisomy 21 (T21), is the most common
genetic disorder associated with intellectual disability. There are two methods commonly …

Research needs for birth defect prevention and control in China in the genomic screening era
Page 1 the bmj | BMJ 2024;386:e078637 | doi: 10.1136/bmj-2023-078637 12 ProMoting …

Non-invasive prenatal testing (NIPT) for aneuploidy screening has been widely applied
across China, and costs can affect Chinese pregnant women's choices. This study aims to …

To discuss combinations of traditional screening and noninvasive prenatal screening (NIPS)
and to compare which traditional screening is the most suitable first-line screening approach …

Objectives We aimed to evaluate the analytical performance of second-trimester maternal
serum screening in China, and to compare if there are differences in sigma levels across …

Purpose This study aimed to establish suitable threshold values for biochemical indicators in
low-risk pregnant women who underwent second trimester screening and design strategies …

Background Current next generation sequencing (NGS) and microarray based Non-Invasive
Prenatal Tests (NIPT), used for the detection of common fetal trisomies, are still expensive …