A cross-sectional survey of pregnant women's knowledge of chromosomal aneuploidy and microdeletion and microduplication syndromes.

OBJECTIVE

The purpose of this survey is to evaluate the knowledge of Chinese pregnant women about fetal chromosomal aneuploidy and microdeletion and microduplication syndromes, and Non-invasive prenatal testing (NIPT).

STUDY DESIGN

Written questionnaires were distributed to pregnant women who visited the fetal medicine clinic of the third affiliated hospital of Guangzhou medical university. A total of 330 questionnaires were given. Twenty-two questionnaires with incomplete information were excluded from further analysis. The remaining 308 cases were incorporated into the final analysis. Data were analyzed using IBM SPSS Statistics 26. Comparisons between categorical variables were tested by the use of crosstabs and χ 2 test.

RESULTS

Among pregnant women, the recognition of Down syndrome was the highest (93.5 %), followed by maternal serum screening (74.0 %) and NIPT (69.2 %) for chromosomal aneuploidy. The awareness rates of chromosomal microdeletions and microduplications (18.2 %) and monogenic disorders (13.3 %) were the lowest. There were no significant differences in age, education, and conception way between pregnant women (P > 0.05). When asked the opinion on increasing the testing range of NIPT, more than 50 % of pregnant women chose to follow the provider's advice.

CONCLUSION

More than half of pregnant women lacked knowledge of screening methods for fetal chromosomal abnormalities. Less than 20 % of pregnant women knew microdeletion microduplication syndromes. To enhance the understanding of chromosomal abnormalities can ensure that women can actively choose tests rather than passively agreeing to their provider's recommendations so as to avoid missing the optimal prenatal screening time.