Diagnosis of Down Syndrome

Patient's question:

Check the results of the triple screen test, which shows that the 21 trisomy is in the high-risk area. Do you need to undergo a non-invasive DNA test or amniocentesis for this result?

Doctor's answer:

Non-invasive prenatal genetic testing involves collecting 5ml of maternal peripheral blood, extracting free DNA, using next-generation high-throughput sequencing technology, and combining bioinformatics analysis to determine the risk of fetal chromosomal aneuploidy disorders (21-trisomy, also known as Down syndrome, 18-trisomy, and 13-trisomy). The optimal testing time for this method is in the early to mid-pregnancy period. It features non-invasive sampling, no risk of miscarriage, high sensitivity, and high accuracy. Non-invasive prenatal DNA testing is suitable for singleton pregnant women over 12 weeks of gestation, with the recommended optimal testing time being 12-24 weeks. The target population includes:
1. Pregnant women aged 35 or older (advanced maternal age);
2. Pregnant women carrying test-tube babies or other precious children;
3. Couples with one member having a history of exposure to harmful substances such as radiation or biochemical agents;
4. Pregnant women with a history of unexplained spontaneous miscarriage;
5. Pregnant women who have previously been pregnant or given birth to children with chromosomal disorders;
6. Pregnant women with prenatal bleeding or vaginal bleeding during pregnancy;
7. Pregnant women who have taken drugs that may affect fetal development in the early stages of pregnancy;
8. Pregnant women with high-risk results in early-to-mid pregnancy serum screening;
9. Pregnant women who are unsuitable for invasive prenatal diagnosis due to placenta previa, low-lying gestational sac, or oligohydramnios;
10. Pregnant women who are unwilling to undergo the risks of invasive prenatal diagnosis due to excessive psychological stress;
11. All pregnant women who wish to rule out fetal chromosomal aneuploidy disorders;
12. Pregnant women who are carriers of viruses (e.g., hepatitis B virus carriers);
13. Pregnant women with Rh-negative blood type.

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