Patient's question:
Age 36, currently 18 weeks pregnant. Previously, at 18 weeks, I underwent non-invasive prenatal genetic testing 2.0 (a certificate issued by Dawu Gene) for the detection of trisomy 21, trisomy 18, and trisomy 13. The detection values were -1.466, 0.901, and -0.183, respectively. Additionally, the testing regions for sex chromosome and other autosomal non-diploidy, as well as 88 types of deletion/duplication syndromes, showed no abnormalities detected within the precision range.At 22 weeks, a fetal heart ultrasound revealed point-like strong echoes in the left and right ventricles. No abnormalities were found in the comprehensive anomaly scan. Does this strong echo indicate a problem with chromosomes? Comparing the previous low-risk NIPT results with this finding, does it increase the likelihood of a genetic issue? Is amniocentesis necessary, and is it risky?
Doctor's answer:
The non-invasive DNA test results are normal, indicating that there are no significant chromosomal abnormalities. The bright spots in the ventricles observed in the ultrasound are not indicative of a problem with the fetal heart; this is a very common occurrence, with over 99% of cases being normal. The remaining less than 1% could potentially be associated with chromosomal abnormalities. Since your DNA test is normal, the likelihood of chromosomal abnormalities is extremely low.In principle, prenatal diagnosis for older mothers typically requires an amniocentesis. The risk of amniocentesis is relatively higher than the risk of chromosomal abnormalities. It ultimately depends on your personal decision.