Impact of cell-free fetal DNA on early invasive prenatal diagnosis at a Chinese reference maternal medicine center

Abstract

Purpose

The aim of this study is to evaluate the impact of the utility of maternal cell-free DNA (cfDNA) on the number of chorionic villus sampling (CVS) at a mainland Chinese maternal hospital.

Methods

This was a retrospective cohort study conducted in consecutive singleton pregnancies that underwent CVS between the 11th and 14th gestational weeks at a Chinese maternal hospital during a nine-year period. The indications, complications and prenatal diagnosis results were evaluated.

Results

This study consisted of 5108 CVS procedures, including 2000 performed for fetal karyotyping, and 3108 performed for fetal single-gene genotyping. During the period with the introduction of cfDNA, the proportion of the number of CVS procedures for the indication of positive serum screening declined significantly, and abnormal ultrasound was the main indication for CVS performed for fetal karyotyping. Thalassemia was always the main indication for CVS, accounting for 50.5% of all CVS cases.

Conclusions

cfDNA has changed the spectrum of CVS indications. CVS is now the invasive procedure performed for patients with a fetus having a very high risk of fetal genetic defects, including fetuses having major abnormal ultrasound or having a risk of single-gene disorder inherited from their parents.

Keywords:

• Prenatal diagnosis
• chorionic villus sampling
• indication
• maternal cell-free DNA
• prenatal screening

Disclosure statement

No potential conflict of interest was reported by the author(s).

Additional information

Funding

This study was supported by Guangzhou Institute of Pediatrics/Guangzhou Women and Children’s Medical Center [JY-2019-006].