How to confirm Down syndrome?

Patient's question:

When undergoing Down syndrome screening, the risk value is high. The doctor recommended amniocentesis, but the risk of amniocentesis is very high. How can we determine if the fetus has Down syndrome?

Doctor's answer:

Under ultrasound guidance, a long, thin needle is inserted through the pregnant woman's abdomen, through the uterine wall, into the amniotic cavity, and a small amount (about 20cc) of amniotic fluid is extracted to check if the fetal chromosomes are normal. Generally, it takes about two weeks to obtain a chromosome diagnosis. If the purpose is to check for a single gene disease, it can take as little as one week, but it may take up to three weeks to get the test report. Due to the rapid advancement of technology and the development of clinical testing techniques, obstetricians can use precise and accurate biochemical tests to identify high-risk pregnant women who may be carrying a diabetic fetus, and then further recommend that the mother undergo amniotic fluid testing. The newly developed prenatal genetic diagnosis provides pregnant women with more and better options, and the health of the fetus depends on the careful care and attention of each mother to lay a good foundation for the baby's health. We hope that every parent can enjoy the joy of parenthood, and every baby can grow up healthy and safe.

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