Congratulations on your pregnancy.
You must be happy to have a new life in your womb. You may be wondering if it is a girl or a boy, and which of the parents the baby will resemble. You are probably thinking about your child, whom you have not yet seen, and his or her future, but at the same time you are probably worrying about the baby’s health.
With the development of science and technology, the accuracy of genetic testing has improved dramatically. This has made it possible to detect chromosomal abnormalities in the fetus, such as Down’s syndrome (21 trisomy), as a prenatal diagnosis in the early stages of pregnancy. Tests such as amniotic fluid and chorionic villus tests, which are considered to cause very little direct invasion (damage) to the mother and fetus like traditional prenatal diagnosis, are called non-invasive prenatal genetic testing, also known as non-invasive prenatal screening (NIPS) and prenatal genetic testing. In other countries, non-invasive prenatal genetic testing is included as a part of the testing menu and is commonly performed as a prenatal diagnosis unless the pregnant woman refuses to undergo it.
HIRO CLINIC NIPT is a laboratory clinic that can diagnose the possibility of congenital diseases caused by chromosomal abnormalities in the fetus through NIPT (new-type prenatal diagnosis).
NIPT (new prenatal diagnosis) is a non-conclusive prenatal test ※1 that can examine chromosomal abnormalities such as Down syndrome (21 trisomy), Edwards syndrome (18 trisomy), and Patou syndrome (13 trisomy) of the fetus by estimating the amount of DNA of the fetus in blood samples taken from the mother.
The test can be performed by drawing only 10 ml (about 2 teaspoons) of the mother’s blood, so there is no direct invasion (damage) to the fetus. Since there is no need to penetrate the body of the mother, the risk of miscarriage is very low compared to amniotic fluid testing or chorionic villus examinations.
In the United States, NIPT (new prenatal diagnosis) is performed unless the patient refuses to undergo the test. In Japan, the number of pregnant women who voluntarily undergo NIPT (new-type prenatal diagnosis) has been increasing every year. The NIPT (new prenatal diagnosis) test is more accurate than the conventional prenatal diagnosis using maternal blood, with reported sensitivity and specificity of 99.9%, but it is still a non-conclusive test. If the result of NIPT (new prenatal diagnosis) is positive, many pregnant women voluntarily undergo a definitive test ※2.
※1 Non-conclusive tests are tests performed to evaluate the possibility of chromosomal abnormalities in the fetus. Ultrasound examination (echography), maternal serum marker test (triple marker quattro test) NIPT (new-type prenatal diagnosis) are considered non-conclusive tests.
※2 A definitive test is a diagnostic test that confirms the presence or absence of a disease; an amniotic fluid test, which can be performed after 15 weeks, and a chorionic villus test, which is performed between 11 and 14 weeks, are called definitive tests. Since a needle is inserted into the abdomen to directly collect amniotic fluid and chorionic villi, there is risk of miscarriage associated with the test.
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NIPT (new prenatal diagnosis)
What is NIPT
(new prenatal diagnosis)?
