NIPT test is the non-invasive testing analysis that tests the cell-free DNA (cfDNA) to test the genetic abnormalities of the fetus. NIPT stands for non-invasive prenatal testing, and it takes a small fragment of DNA present in the pregnant woman’s blood. Normally, DNA is found within the cell’s nucleus but cell-free DNA is available freely in the bloodstream because certain cells die off and break down, causing the DNA to release within the bloodstream.
NIPT Test Process
A pregnant woman has both types of cfDNA—one that is from her own cell and another that is from placental tissue. NIPT test considers the cfDNA that is released from the placenta tissue. The placenta is the tissue that keeps the fetus attached to the uterus and maintains blood supply between the fetus and the mother’s tissue. NIPT test takes the cfDNA of placenta instead of fetus because both have the identical nature, and it keeps the fetus intact from any outside injury.
Why NIPT test?
The NIPT test diagnoses whether the fetus has any abnormalities of having trisomy 21 (Down syndrome), trisomy 18 (Edward syndrome), or trisomy 13 (Patau syndrome) chromosomal disorders. Normally, we have 23 pairs of chromosomes (total 46), but when a fetus has an extra copy of a chromosome, i.e., a total of 47 chromosomes, trisomy syndrome occurs.
- Trisomy 13: The fetus has three copies of chromosome at position 13 instead of two. The child with these abnormalities may have hearing loss, extra fingers or toes, or intellectual disabilities.
- Trisomy 18: The fetus has three copies of the chromosome at position 18 instead of two. The child may have the abnormally shaped head, small jaws, low IQ, or lung, intestine, or kidney-related diseases.
- Trisomy 21: The fetus has three copies of the chromosome at position 23 instead of two. It is the most common trisomy syndrome, and the child may have a high risk of congenital heart disease, gastrointestinal abnormalities, hearing loss, intellectual disabilities, or autism.
NIPT test results
NIPT test results are false positives in cases when they indicate a high risk of genetic abnormalities, whereas the fetus is actually unaffected. NIPT test may give low risk of genetic disorder or false negative results where the fetus is actually affected. This is a non-invasive technique and takes 6-7 business days to analyze.
Medgneome provides NIPT as part of their modern pregnancy tests, helping parents get safe and clear information about their baby’s health.
NIPT test helps to determine the chromosomal disorders of fetus and is suggested by the health physician to pregnant women in case of high-risk pregnancy. NIPT results are almost 99% accurate in the prediction of Down syndrome and slightly different in detecting Edward syndrome or Patau syndrome.
Frequently Asked Questions
Why should I do the NIPT test?
NIPT test is performed to analyze fetal chromosomal abnormalities called trisomy 13, trisomy 18, and trisomy 21 syndrome.
Can I repeat the NIPT test?
Yes. You can repeat the test in case the present fetal fraction (proportion of cfDNA) is less than 4%. Low fetal fraction causes the inability of the NIPT test to reveal the correct result.
When is the NIPT test done?
NIPT test is done normally at the beginning of 10 weeks of pregnancy.
