Non-invasive prenatal testing (NIPT): GenePlanet Plus
During pregnancy, DNA is released from the placenta into the maternal bloodstream, reflecting the genetic makeup of the fetus. By examining this DNA, it is possible to detect a wide range of chromosomal abnormalities in the fetus. The test is performed on maternal venous blood.
What does the test screen for?
The method can detect not only abnormalities caused by changes in the number of entire chromosomes, such as Down syndrome (trisomy 21), Patau syndrome (trisomy 13), Edwards syndrome (trisomy 18), or Turner syndrome, but also specific conditions caused by the deletion or duplication of parts of certain chromosomes, known as deletion or duplication syndromes.
How does the test work?
The test requires a sample of maternal venous blood. The sample is analyzed in GenePlanet laboratories.
At what stage of pregnancy is the test performed?
The NIPT can be taken as early as the 10th week of pregnancy. Since the amount of fetal DNA in the mother's blood increases with the pregnancy's progression, it is recommended to perform the test from the 12th week to ensure successful processing of the sample.
Who is the test suitable for?
NIPT is suitable for all women with uncomplicated pregnancies who wish to undergo a highly accurate test that screens for a wide range of fetal chromosomal abnormalities. It is particularly important for pregnant women at higher risk of chromosomal abnormalities, including those aged 35 and over, those with a family history of chromosomal disorders, or those with specific abnormal results from first-trimester combined screening. In cases of increased risk, it is essential to consult with a doctor to determine whether NIPT is the right solution for the individual woman and her situation.
Who is the test not suitable for?
NIPT is not primarily suitable for pregnant women where there is suspicion of a chromosomal abnormality or genetic condition that NIPT cannot detect. This suspicion typically arises from findings of structural abnormalities during a fetal ultrasound, including increased nuchal translucency of 3.5 mm or more. In such cases, invasive tests (chorionic villus sampling or amniocentesis) are recommended.
How accurate is the test?
NIPT is the most sensitive non-invasive method for detecting fetal chromosomal abnormalities. It can detect 99% of all Down and Edwards syndromes. The sensitivity of the test for Patau syndrome is approximately 98%.
You will receive the result within 10 working days.
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