Women's preference for non-invasive prenatal DNA testing versus chromosomal microarray after screening for Down...

Area of Science:

• Prenatal diagnostics
• Genetics
• Maternal-fetal medicine

Background:

• Down syndrome screening identifies pregnancies at high or intermediate risk.
• Follow-up testing is crucial for definitive diagnosis and management.
• Patient preferences significantly influence the uptake of diagnostic and screening procedures.

Purpose of the Study:

• To investigate the preferences of pregnant women for follow-up genetic testing after screening for Down syndrome.
• To compare the uptake of non-invasive prenatal testing (NIPT) versus invasive diagnostic procedures like chromosomal microarray (CMA).

Main Methods:

• A prospective cohort study was conducted in three public hospitals in Hong Kong.
• Women with high-risk (HR) or intermediate-risk (IR) Down syndrome screening results were offered different testing options.
• Standardized counseling was provided regarding test details, miscarriage risk, and costs.

Main Results:

• Of 347 women with HR pregnancies, 99.1% opted for follow-up testing, with 62.2% choosing NIPT.
• 82.6% of women with IR pregnancies opted for NIPT.
• In HR pregnancies, approximately 60% preferred NIPT over CMA.

Conclusions:

• When counseling and costs are standardized, a majority of high-risk pregnant women opt for NIPT.
• This suggests a preference for less invasive screening with limited aneuploidy assessment over comprehensive diagnostic testing.
• Understanding patient preferences is key in guiding prenatal testing choices.