Question
I am 36 years old and currently 24 weeks pregnant. My non-invasive prenatal genetic testing at 18 weeks was normal, but my fetal cardiac ultrasound at 22 weeks shows punctate hyperechoic foci in the left and right ventricles. I would like to know if this indicates a possibility of chromosomal abnormalities and whether an amniocentesis is necessary.
Answer
Based on the results of the non-invasive DNA testing, no abnormalities were detected in trisomies 21, 18, or 13, nor in sex chromosomes or other autosomal non-disjunction. Additionally, 88 genetic diseases within the detection accuracy range were also found to be normal. Therefore, a normal non-invasive DNA testing result indicates a very low risk of chromosomal abnormalities. As for the punctate hyperechoic foci within the ventricles, this is a common finding that usually has no clinical significance and is only associated with chromosomal abnormalities in less than 1% of cases. Therefore, based on the current test results, the possibility of chromosomal abnormalities is extremely low. However, due to age factors, prenatal diagnosis generally recommends amniocentesis. The risk of amniocentesis is relatively higher compared to the risk of chromosomal abnormalities, so it is up to the individual to decide whether to proceed with it.