Detection of a baby with Down syndrome from maternal blood

The test called “Noninvasive Prenatal Testing for Fetal Aneuploidy” is to determine whether the baby has Down Syndrome by detecting and examining the DNA of the baby circulating freely in the blood of a pregnant woman.

DNA circulating freely in the mother's blood. 3-13% of the serum comes from the baby's placenta and is cleared from the mother's blood within hours after the baby is born. Until recently, it was not possible to separate the baby's DNA from the mother's DNA. With the advancements in technology in recent years, this method, which was previously very difficult and expensive, can now be performed at more affordable prices using special techniques.

With this method, the baby's diseases such as Trisomy 21 (Down Syndrome), Trisomy 13 and Trisomy 18 can be performed at more affordable prices.

Chromosomal disorders can be detected by blood taken from the mother's arm at 10 weeks of gestation and later. The success rate of this method is 98%, which is very high. The false positive rate is very low, at 0.5%.

The test has no risk for the baby and the mother, and the test can be performed with a simple blood sample taken from the mother's arm. The results of the test are available within 1-2 weeks.

Today, it is one of the most effective methods for screening Down Syndrome.

What you need to know about the test:

1. It is not routinely recommended for low-risk groups. However, it may be useful to inform the family about the test.

2. It is not recommended in the presence of multiple pregnancy.

3. If structural anomalies suggestive of Down Syndrome are detected in the baby's USG examination, amniocentesis may be preferred.

4. If the test result is positive, Chorionic Villus Sampling (CVS) or Amniocentesis is recommended for definitive diagnosis.

5. It is not a method that replaces CVS or Amniocentesis.

6. A negative test result does not definitively rule out that the baby is not affected.

Situations in which the test may be recommended:

1. Pregnant women who were 35 years of age or older at birth.

2. Presence of any finding or findings that pose a risk for Down Syndrome in the ultrasonographic examination of the baby.

3. Having had a previous pregnancy with Down Syndrome.

4. Positivity in double scan, triple or quadruple scan.

5. The presence of a balanced Robertsonian translocation increases the risk of Down Syndrome.

Note: Test for Trisomy with Down Syndrome. It also provides scanning for 13 and 18.

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