Individuals choose to undergo NIPT for various personal reasons. Some may have limited knowledge of their biological family or a family history of genetic conditions. Others may pursue testing due to recurrent miscarriages or general pregnancy-related anxiety. For many, NIPT is sought primarily for reassurance.

Humans have 23 pairs of chromosomes, totaling 46 chromosomes. One copy of each chromosome is inherited from the mother (egg) and the other from the father (sperm).

• The first 22 pairs are called autosomes and are the same in both males and females.

• The 23rd pair consists of the sex chromosomes. Females have two X chromosomes, while males have one X and one Y chromosome.

An abnormality in an embryo’s chromosomal makeup can result in a specific syndrome or may lead to miscarriage. Sometimes, embryos have an abnormal number of chromosomes—a condition known as aneuploidy.

Aneuploidy is a significant factor in miscarriage, in vitro fertilization (IVF) failure, and various health conditions, including Down syndrome.

The accuracy of NIPT depends on the specific syndrome being screened for. While the test is highly reliable, there remains a very small chance it may not detect an affected pregnancy. Additionally, there is approximately a 0.3% chance of a false positive result. In such cases, we always recommend follow-up diagnostic testing.

NIPT is more accurate than the NHS first-trimester combined test or the second-trimester quadruple test for assessing the risk of genetic conditions. However, it is important to understand that NIPT is a screening tool, not a diagnostic test. Diagnostic procedures such as amniocentesis or chorionic villus sampling (CVS) provide definitive results but carry a risk of miscarriage. Therefore, NIPT is recommended as a safer initial step. Any concerns during pregnancy should be discussed with your healthcare provider.

Each cell in the human (except reproductive cells) body contains 46 chromosomes (we get 23 from our mother and 23 from father). Having too much or too few chromosomes means that our body has too many or too few genes or ‘genetic instructions’. This results in abnormalities such as trisomies (Down, Edwards, and Patau syndrome) or abnormalities in the sex chromosomes (including Klinefelter, Turner, Jacobs, and Triple X syndrome). However, the number of chromosomes may be typical, but there might be missing or duplicated fraction of the chromosome. This is called deletion or duplication. Because such changes are tiny, they are often difficult to detect before birth. Our NIPT test technology, however, scans all chromosomes and can detect 92 deletion and duplication syndromes in our NIPT 3.