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NIPS

Non-Invasive Prenatal Screening Test

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History


Research conducted in the 1980s found that the risk of Down syndrome pregnancy was positively correlated with maternal age. While some prenatal diagnostic methods are risky and invasive, medical research in Taiwan has long sought to develop safer ways of determining the probability of Down syndrome in the early stages of pregnancy. One such test to emerge from this work is the hemotropic Down syndrome scan, which tests for Down syndrome during the first trimester. Between 1993 and 2010, the live birth rate of children with Down syndrome in Taiwan dropped from 46 out of 100,000 to 7.79 out of 100,000, which highlights the success of this test.

However, the hemotrophic Down syndrome scan has a high chance of showing either false negative or false positive results. Although the number of children born with Down syndrome has drastically decreased in the past few decades, around 40 children are still born with the condition every year. More traditional invasive methods, such as amniocentesis and chorionic villus sampling (CVS), have a risk of causing infections and/or miscarriage. As a result, the development of accurate and noninvasive testing methods has long been an important goal of Down syndrome research.

Research conducted in 1997 discovered Y-chromosome fragments in the blood of a woman who was carrying a male child. This finding revealed that it was possible to retrieve fetal chromosomes from the mother's blood and test them for Down syndrome. In 2005, such techniques were made commercially available.Today, they are not only simple and easy, but also boast a 99% accuracy level.

NIPS is the abbreviation for Non-Invasive Prenatal Screening. NIPS was adopted as the official name for this Down syndrome screening technique by the American College of Medical Genetics (ACMG) in 2013, but other names include Non-Invasive Prenatal Diagnosis (NIPD), Non-Invasive Prenatal Test (NIPT) or Non-Invasive Fetal TrisomY test (NIFTY).