Correlation between fetal aneuploidy and indications for non-invasive prenatal tests = Correlation between fetal aneuploidy and indications for non-invasive prenatal tests

다국어 초록 (Multilingual Abstract)

Objective: To determine the prevalence of fetal aneuploidy in accordance with the indications for a non-invasive prenatal test (NIPT).
Methods: We retrospectively analyzed 415 cases involving patients who underwent NIPT between December 2016 and June 2018 at a single tertiary care center owing to maternal old age, positive serum screening test, abnormal pre-natal ultrasonography findings, previous history of fetal aneuploidy, abnormal parental karyotype, or substitution of serum screening test. The cases were classified based on the indications listed above as having individual or multiple indications. A single company conducted the tests.
Results: The primary reason for NIPT was maternal old age (54.8%) followed by positive quad test results (20.2%), abnormal ultrasonography findings (14.8%), substitution of serum screening test (7.8%), previously affected pregnancy (1.9%), and abnormal parental karyotype (0.5%). Among the 415 cases, 11 were deemed high risk for fetal aneuploidy, including trisomy-21 (n=5), trisomy-18 (n=4) and trisomy-13 (n=2). Among the 11 cases grouped as high risk, ten cases of aneuploidy were identified with one case being a false-positive. Abnormal fetal ultrasonography findings were noted in all cases in the high-risk group. Nine cases (81%) were associated with advanced maternal age. A positive quad test was reported in two cases (18%).
Conclusion: Among the various indications for NIPT, abnormal fetal ultrasonography findings could be helpful in predicting fetal aneuploidy.