NIPS

Non-Invasive Prenatal Screening (NIPS) is a type of prenatal test that uses a small sample of the mother’s blood to detect chromosomal abnormalities in the developing fetus. It is typically offered to pregnant women who are at an increased risk of having a baby with certain chromosomal conditions, such as Down syndrome, but it should be offered to all pregnant women regardless of their risk factors.

NIPS can be performed as early as 10 weeks of pregnancy and can detect chromosomal abnormalities such as Down syndrome, Edwards syndrome and Patau syndrome. It can also detect some microdeletions syndromes such as DiGeorge, Prader Willi, Angelman, and Cri du Chat.

The benefits of NIPS include:

• It is a non-invasive test that does not carry the risks associated with invasive prenatal diagnostic tests such as amniocentesis and chorionic villus sampling (CVS)
• It can be performed early in pregnancy, which allows for earlier detection of chromosomal abnormalities and more time for couples to make informed decisions about their pregnancy
• It is highly accurate, with detection rates of greater than 99% for certain chromosomal abnormalities.

Indications: 

• Advanced maternal age- NIPS can be useful for women who are 35 years or older, even if they are not considered to be at an increased risk of chromosomal abnormalities. This is because these women may have a higher chance of miscarriage or other complications during pregnancy, and an early diagnosis of a chromosomal abnormality can help them make more informed decisions about their care.

• An abnormal serum screen- Non-Invasive Prenatal Screening (NIPS) can be used in conjunction with other prenatal screening tests, such as serum screening, to help identify women who are at an increased risk of having a baby with chromosomal abnormalities.

If a woman receives an abnormal result on a serum screening test, such as a positive result on a first or second trimester screening, her healthcare provider may recommend NIPS as a follow-up test. This is because NIPS can provide more detailed and accurate information about the risk of chromosomal abnormalities, including Down syndrome, Edwards syndrome, and Patau syndrome, than traditional serum screening tests alone.

• Personal or family history of aneuploid- Non-Invasive Prenatal Screening (NIPS) can be used for women who have a personal or family history of aneuploidy, which is an abnormal number of chromosomes in a cell. Aneuploidy can lead to chromosomal disorders such as Down syndrome, Edwards syndrome, and Patau syndrome.

Women with a personal or family history of aneuploidy may be at an increased risk of having a baby with a chromosomal disorder, and NIPS can provide important information about the risk of chromosomal abnormalities in the developing fetus. This can help couples make more informed decisions about their pregnancy and prepare for the potential outcomes.

• Abnormal ultrasound- An abnormal result on an ultrasound is an indication of a possible chromosomal disorder or structural abnormality. NIPS can provide more detailed and accurate information about the risk of chromosomal abnormalities and can help in identifying possible chromosomal disorder or structural abnormality.