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Worldwide, 3-6% of births each year are affected by congenital malformations, which can include Congenital Heart Defects and genetic diseases brought on by chromosomal abnormalities including Down syndrome, Turner syndrome, klinefelter syndrome, and more.
Due to this, doctors advise prospective mothers to undergo a number of tests, the most notable of which is the NIPT Test, to make sure their unborn children are free from congenital defects and other genetic illnesses in general.
What does the NIPT test entail, and why is it crucial to the fetus's health? When can it be done? And How accurate is it in identifying inherited syndromes?
In this article, we will emphasize the significance of the NIPT Test of the fetus, the circumstances under which it is advised that pregnant women do it, and the genetic syndromes it can identify.
What is NIPT Test?
The term "NIPT" stands for "non-invasive prenatal test," which is a test that involves taking a blood sample from a pregnant woman that contains some fetal DNA in order to determine the fetus's gender and ensure that it is free from genetic syndromes brought on by chromosome deficiencies, such as Down Syndrome, Patau Syndrome, Edwards' Syndrome, and others.
What exactly does the NIPT test for?
It is crucial to understand that each cell typically contains 46 chromosomes - 23 pairs of chromosomes from the father and 23 pairs of chromosomes from the mother. A mistake that changes the amount of these chromosomes during the fetal' development could result in an increase or decrease, giving rise to a genetic abnormality in the newborn that could lead to more issues down the road or a gender imbalance.
Using an NIPT Test, the following syndromes can be identified:
Down Syndrome
It is brought on by the presence of a third copy of chromosome 21 rather than the normal two copies, which results in a delay in the child's development, learning difficulties, and may raise his risk of developing autism.
Related: is-autism-genetic
Patau's syndrome
The Patau syndrome is brought on by the existence of a third copy of chromosome 13, which leads in low weight or sluggish growth of the newborn in the womb and frequently results in miscarriage or the infant's death shortly after birth.
Edwards' syndrome
It is brought on by an extra copy of chromosome 18, which changes how the fetus develops.
Turner syndrome
It only manifests in females as a result of a lack of one copy of the X chromosome instead of two, which results in small stature and inadequate ovarian development.
Klinefelter syndrome
Males who with klinefelter syndrome have two copies of the X chromosome rather than one, which results in infertility.
When should a pregnancy NIPT test be performed?
It is advised to undergo NIPT Test at week 10 of pregnancy and at any time thereafter in order to identify genetic disorders early and improve the likelihood that available treatments would be effective.
Because there is insufficient fetal DNA in the mother's blood, NIPT cannot be carried out before week 10 of pregnancy.
Even if no genetic illnesses run in the family or the pregnant woman, should she still have The NIPT test?
Regardless of the woman's age during pregnancy or whether she has genetic disorders or not, the American College of Obstetricians and Gynecologists advises that every pregnant woman should get The NIPT Test.
Accuracy of the NIPT test
While no test is 100% accurate, NIPT successfully diagnoses roughly 99% of fetuses with Down syndrome compared to nuchal thickness scan performed at 11–14 weeks of pregnancy, which only detect about 80% of fetuses with the condition.
When do NIPT outcomes show up?
Results from NIPT often appear two weeks following the test, if not sooner.
The difference between NIPT and Karyotyping
The Karyotyping test identifies the number, size, and shape of chromosomes as well as the disorders caused by any chromosomal abnormality, including Down syndrome, Turner syndrome, Edwards' syndrome, and more.
It is carried out using a sample of blood, bone marrow, or placenta. Karyotyping test are available for couples, and they are advised for those with cancer and blood disorders to determine the best course of therapy.
While the NIPT test is primarily focused on the fetus to discover illnesses brought on by chromosomal abnormalities during the fetus' development and to determine its sex, it is only carried out with a blood sample from the pregnant woman to examine the fetus's DNA.
Enigma Genomics offers a genetic counseling service both before and after the test to offer the required advice and explain the test results, in addition to providing the NIPT test result in just one week.
Also, it is advised that you follow up with your doctor on a regular basis so that you are aware of the prenatal tests that are required for you and the best ways to take preventative measures to ensure both your safety and the safety of your unborn child.