NIPT – Non-invasive Prenatal Test

This special test is a screening test used to detect the risk of Down’s syndrome in an unborn baby. It has several names, the most common ones being Non-Invasive Prenatal Testing (NIPT), and Cell-free Fetal DNA Testing (CfF-DNA).

NIPT is highly sensitive and is able to detect more than 99% of cases of Down’s syndrome. Traces of the baby’s DNA circulate in the mother’s bloodstream – known as cfDNA (cell free DNA). Non-invasive prenatal testing (NIPT) is a way of examining fetal DNA by taking a sample of blood from a pregnant woman to determine the baby’s risk for a number of genetic disorders, including Down’s syndrome.

Common Chromosomal Disorders Screened by NIPT

• Trisomy 21 (Down syndrome): The fetus has three copies of chromosome 21, leading to developmental and physical abnormalities.
• Trisomy 18 (Edwards syndrome): A rare condition where the fetus has three copies of chromosome 18, often leading to severe medical complications.
• Trisomy 13 (Patau syndrome): The fetus has three copies of chromosome 13, causing severe intellectual disabilities and physical malformations.

NIPT also offers optional testing for other genetic conditions such as deletion syndromes and sex chromosome aneuploidies. It can even reveal your baby’s gender early in pregnancy.

How the Test Helps

NIPT examines cell-free DNA (cfDNA) from the placenta that is found in the mother's bloodstream. The cfDNA can be isolated and analyzed for abnormalities such as aneuploidies—abnormal numbers of chromosomes. This includes:

• Down’s syndrome: Cognitive impairments, delayed speech development, and physical markers such as upward slanting eyes and short neck.
• Edward’s syndrome: Severe medical problems that often result in early fatality.
• Patau syndrome: Intellectual disability, physical malformations like cleft palate, and small eyes.

Additional Findings

NIPT can also detect:

• Sex Chromosome Aneuploidy: Issues such as Turner syndrome (missing X chromosome) or Kleinfelter syndrome (extra X chromosome).
• Microdeletions: Small DNA segments missing from chromosomes, including 22q11.2 deletion, which is linked to developmental delays and disorders like DiGeorge syndrome.

Early and accurate detection through NIPT allows parents to better prepare for or address potential challenges associated with genetic conditions.