Non-Invasive Prenatal Testing (NIPT), sometimes known as Non-Invasive Prenatal Screening (NIPS), is used to detect the presence of anomalies in chromosomes 21, 18 and 13 indicating a baby’s risk of Down, Edwards or Patau syndromes. It involves taking a small blood sample during pregnancy and analysing the cell-free foetal DNA. Advanced cell-free foetal DNA tests also exist which detect other trisomies related to first trimester miscarriage and identify microdeletions related to serious genetic disorders.
NIPT is often recommended for women with a high risk of chromosomal abnormalities following their 1st trimester screening (hormone analysis and ultrasound scan). Your consultant may also recommend it if you are 35 years or older or if genetic disorders have affected your family or previous pregnancies. This test is also recommended in cases of multiple pregnancies.
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During pregnancy, a baby’s DNA begins to circulate in the mother’s blood. Using only a small blood sample, advances in the field of genetics make it possible to detect this foetal DNA in the bloodstream and access genetic information regarding the baby’s chromosomes and the overall health of the pregnancy. Human beings have 23 pairs of chromosomes, making a total of 46 (two copies of each pair). The first 22 pairs are numbered from 1 to 22. The last pair determines the sex. Females have two X chromosomes and males have one X and one Y chromosome. Health risks can arise when a chromosome is missing or there is an extra chromosome.
Modern cell-free foetal DNA tests use the latest sequencing technology to analyse foetal DNA in relation to maternal DNA to detect certain anomalies with a high level of precision and reliability. Cell-free foetal DNA tests have an accuracy of up to 99.7% in foetuses with Down Syndrome, as well as other frequent anomalies (chromosomes 18, 13, X and Y) with an equal level of accuracy and reliability. Your consultant will discuss your results with you in detail so you can effectively plan your prenatal care.