Interpreting the results of a high-risk Down syndrome screening and recommendations for whether to undergo amniocentesis
The Down Syndrome screening result shows a high risk, and further amniocentesis and fetal chromosome testing are required to confirm the presence of Down syndrome.
A 36-year-old pregnant woman at 24 weeks gestation, with a normal non-invasive prenatal genetic testing result at 18 weeks, but a cardiac ultrasound at 22 weeks showing punctate hyperechoic foci in the left and right ventricles. Inquire about the possibility of chromosomal abnormalities and whether amniocentesis is necessary.
Diagnosis methods for Down Syndrome and their importance
Learn about the screening methods for Down Syndrome, including amniocentesis after high-risk indicators, and how parents should care for and attend to their children with the condition.
The risk rate for Down syndrome in the second trimester is 1 in 88, and it is recommended to consider amniocentesis or non-invasive DNA testing to determine the risk.
The risk rate of Trisomy 21 is high, it is recommended to undergo further examination and consider amniocentesis.
When the risk of Down Syndrome is high, can other tests be used to confirm or rule out the risk early?
When the risk value of a 21-trisomy screening result is close to the critical value, medical professionals may recommend amniocentesis for further confirmation of the presence of congenital malformations or chromosomal abnormalities.
If a pregnant woman finds her NF value is abnormally high at 6.8mm during her 20-week prenatal check-up, should she undergo an amniocentesis immediately to rule out the possibility of chromosomal abnormalities?
