NIPT is a prenatal screening conducted in the early stages of pregnancy (first trimester) through a blood draw to detect chromosomal abnormalities in the fetus. As the mother provides oxygen and nutrients to the fetus through the placenta, some of the fetal DNA enters the mother's bloodstream. NIPT analyzes these fetal DNA fragments from a 10 c.c. blood sample taken from the expectant mother to screen for chromosomal abnormalities in the fetus. NIPT has a detection rate of up to 99% for Down syndrome and can also further screen for sex chromosome abnormalities or chromosomal microdeletions/duplications.

Statistics show that on average, one in every 800 pregnant women carries a baby with Down syndrome, and the risk increases with the mother's age. However, this does not mean that younger mothers are without risk. Therefore, it is recommended that expectant mothers of any age undergo NIPT (Non-Invasive Prenatal Testing) in the early stages of pregnancy.

Pregnant women can detect fetal free DNA in maternal blood from as early as 5 weeks of pregnancy. According to expert recommendations, the optimal time to perform NIPT is at 10 weeks of pregnancy or later, as this allows for sufficient fetal free DNA to be collected for analysis.

In addition to detecting abnormalities in the number of autosomes and sex chromosomes, NIPT 2.0 and NIPT 3.0 testing services can also identify microdeletions and duplications in chromosomes. Common conditions related to an abnormal number of autosomes include Down syndrome, caused by an extra chromosome 21, as well as Edwards syndrome (trisomy 18) and Patau syndrome (trisomy 13). Common conditions related to abnormalities in the number of sex chromosomes include Turner syndrome, Klinefelter syndrome, Triple X syndrome, and XYY syndrome.

NIPT samples come from maternal blood and can be tested as early as 10 weeks into pregnancy. It uses next-generation sequencing technology and bioinformatics algorithms to screen for chromosomal abnormalities in the fetus. On the other hand, amniocentesis microarray samples are taken from amniotic fluid, typically between 16-20 weeks of pregnancy. The microarray is equipped with many testing probes, each designed to recognize specific genetic segments, and abnormalities are identified through computer analysis.

If your test report is interpreted as high risk, you will need to opt for other diagnostic methods for further confirmation. It is generally recommended to proceed with amniocentesis for karyotyping or amniotic fluid genetic microarray testing. Please discuss further with your primary care physician for advice and consultation.