A 34-year-old healthy pregnant woman was referred to the reproductive center in Southeast China. Serological screening results at 18 gestational weeks indicated a low risk (risk value: 1:3900). Doctors recommend non-invasive prenatal testing (NIPT) in view of the woman’s advanced maternal age. NIPT results showed that the fetus has a high risk of trisomy 21 which following confirmed by amniocentesis diagnosis of 47, XN, +21. Finally, this woman chose to terminate pregnancy to avoid giving birth to a sick baby. Two years later, with a normal NIPT result, the woman finally gives birth to a healthy baby
Noninvasive Prenatal Testing
There are more than 900,000 birth defects in China every year, and the total incidence of birth defects is about 5.6%, among which, Down's syndrome (trisomy 21), Edward's syndrome (trisomy 18) and patau's syndrome (trisomy 13) accounted for 80~90% of all birth defects.
BaseNIPT is a prenatal screening designed to test the free fetal DNA in pregnant women’s peripheral blood and evaluate the risk of aneuploidy (Trisomy 21, Trisomy 18, Trisomy 13 etc.), It works by examining the small fragments of DNA – known as cell free DNA (cfDNA)-floating in the mother’s blood. Most of these fragments will be from mother, but a proportion will come from the placenta and therefore carry the DNA of the fetus. Analyzing cfDNA from the placenta provides an opportunity for early detection of certain genetic abnormalities without harming the fetus.
Who benefits from NIPT?
Pregnant women concerned about the health of their fetuses
Pregnant women who don't want to do amniocentesis
Serological screening suggests a high risk of pregnancy
Serological screening high-risk pregnant women
Patients with interventional prenatal diagnosis contraindications
Pregnancy 20+6 weeks or more, missed the best time for serological screening
Only peripheral blood is needed, no risks for miscarriage
Test report will be issued within 20 working days
Comprehensive DNA testing, provide over 99% accuracy
Test can be performed at 12 weeks gestational age
Up to 400,000 yuan health insurance to protect patients interests
Lower price benefit from upgraded technology