Genetic abnormalities and chromosomal aberrations in a fetus is an indication of the predisposition of a potential genetic syndrome. However, with advanced genetic screening tests, it is now possible to screen for fetal chromosomal aneuploidies. It has transformed the dynamic of healthcare with advanced non-invasive testing during pregnancy.
Screening for genetic abnormalities in the growing fetus during the first trimester helps expecting parents to make a wise decision. The existence of aneuploidies in the chromosome in the growing fetus is a serious red flag. Prenatal screening during first-trimester pregnancy provides early information to help a couple make an informed decision.
What is NIPT Genetic Screening?
The NIPT Genetic testing is non-invasive prenatal testing that helps in screening the fetus for the presence of any genetic abnormalities. The method helps in the early identification of the possible risk of the fetus being born with possible genetic syndromes.
The advanced prenatal screening technique is done during the first trimester of pregnancy using a cell-free (cfDNA) sample extracted from the mother’s blood sample. The fraction of cfDNA is screened with help of high throughput DNA sequencing. It is a powerful screening technique for detecting an incorrect number of sex chromosomes or the presence or absence of chromosomal copy.
It is an effective genetic test during first trimester for screening of Down syndrome (trisomy 21), Edwards Syndrome (trisomy 18), Patau Syndrome (trisomy 13) or sex chromosome aberrations (extra or missing copy of sex chromosome). The screening is done between weeks 10 to 13 and is highly recommended for women above 35 years or couples with any or both existing genetic conditions. NIPT is known to accurately detect 90% of cases for Down Syndrome during the first trimester.
How is the NIPT Screening Done?
The screening is done by extracting a sample of the mother’s blood. The cell-free DNA from the fetus circulates into the mother’s blood and cfDNA is analyzed to check for the presence of any genetic aberrations or abnormalities. The cfDNA consists of around 200 DNA building blocks or base pairs. The DNA fragments from the fetus are released into the bloodstream of the mother when the cells break down and its content is released.
NIPT is a simple and safe test done from the maternal blood during the first trimester. The test results are mostly accurate for prenatal aneuploidy screening. The NIPT is however a screening test and not a diagnostic test.
NIPT Screening is highly recommended for:
- A pregnant woman of 35 years and above
- History of previous pregnancies with Trisomy
- Test Yields Indicating Higher Risk of Aneuploidy or Trisomy
- Parental Karyotype with Robertsonian Translocation as it increases the risk of Down Syndrome or Patau Syndrome.
- Parents with existing recessive genetic conditions.
The prenatal NIPT screening does not pose any threat to the health of the pregnant mother. It is best to conduct the screening test during the first trimester as it is easily done by analyzing the blood sample from the mother.
Limitations
One of the limitations is it, NIPT genetic screening helps in screening only for limited genetic abnormalities. The accuracy is not 100% and a negative test does not rule out the complete presence of chromosomal abnormalities. The test is not suitable for people who have undergone stem cell therapy or transplant.
Where can you get the NIPT Genetic Testing?
There are many established molecular diagnostic labs where you can get the DNA testing during pregnancy first trimester done. The labs after the test help in providing the right guidance in case of positive results. It is affordable and reasonable and helps in the early screening of prospective genetic abnormality.
Book a test online or simply contact a reputed lab for a sample collection from the comfort of home.
