Knowledge, attitudes, and practices of healthcare professionals working in prenatal diagnosis toward expanded non‐invasive prenatal testing in China

Abstract

Objectives: To investigate the knowledge, attitudes, and practices of healthcare professionals (HCPs) working in prenatal diagnosis toward expanded non-invasive prenatal testing (NIPT) in China. Methods:We conducted a national online survey among HCPs working in prenatal diagnosis, including specialists in prenatal diagnosis and foetal medicine, obstetricians and gynaecologists, nurses in obstetrics and gynaecology, obstetric ultrasound doctors, and technicians in prenatal diagnosis laboratories. A total of 1882 questionnaires were collected, among which 1822 questionnaires met the research criteria and were included in the analysis.Results: More than 99% of all participants opted for NIPT for trisomies 21, 18, and 13. The rates of support for expanded NIPT for sex chromosome aneuploidies, rare autosomal trisomies, microdeletions and microduplications, and single-gene disorders were 93.9%, 88.6%, 89.4%, and 86.8%, respectively. Specialists in prenatal diagnosis and foetal medicine had greater knowledge but were less likely to support expanded NIPT compared to other participants. Knowledge increased with educational level, whereas support for expanded NIPT decreased with educational level.Conclusions: More than 80% of HCPs working in prenatal diagnosis in China expressed support for expanding NIPT to conditions other than common trisomies.The degree of knowledge was negatively associated with the rate of support. Key points What's already known about this topic?� Non-invasive prenatal testing (NIPT) is highly effective in detecting trisomies 21, 18, and 13 � Expanding NIPT to screening for conditions other than trisomies 21, 18, and 13 remains controversial What does this study add? � More than 80% of healthcare professionals working in prenatal diagnosis in China expressed a preference for expanding NIPT to conditions other than trisomies 21, 18, and 13 � The degree of knowledge was found to be negatively associated with support for the expanded NIPT

Limited ability of increased sequencing depth in detecting cases missed by noninvasive prenatal testing: a comparative analysis of 3 clinical cases

“…A survey found that more than 80 percent of health care professionals in China engaging in prenatal diagnosis expressed support for extending NIPT to diseases other than common trisomies. The degree of knowledge was negatively correlated with the support rate 36 . Prenatal screening for sex chromosome aneuploidies raises complex ethical issues for future children, prospective parents, and clinicians 37 .…”

Comparison of Chromosomal Microarray Analysis and Noninvasive Prenatal Testing in Pregnant Women with Fetal Ultrasonic Soft Markers

“…Currently, NIPT has rapidly gained traction for screening a limited number of chromosomal diseases, including T21, T18, T13, and sex chromosome abnormalities. Although the feasibility of expanded NIPT panels for certain microdeletion syndromes, 30 such as 22q11.21 microdeletion (DiGeorge syndrome) and 5p deletion (cri du chat syndrome), has been explored, it is crucial to acknowledge that these expanded panels may miss almost half of abnormal findings. 31 Notably, for soft markers exhibiting a high incidence of chromosomal abnormalities, invasive testing is currently recommended over NIPT, as the latter lacks clinical validation for submicroscopic CNVs.…”

A good screening test: not just high sensitivity

“…Non‐invasive prenatal screening (NIPS) based on cell‐free DNA in maternal plasma is being expanded to include additional chromosomal abnormalities beyond chromosomes 21, 18, 13, X and Y 1,2 . These abnormalities include rare autosomal trisomies, common microdeletion/microduplication syndromes and even genome‐wide copy‐number variants (CNVs) sized over 5 Mb.…”