Non Invasive Prenatal Test (NIPT)

Prenatal diagnosis, which we call antenatal diagnosis, has a very important place in obstetrics. Detecting anomalies in the baby in the mother's womb and informing the family about this prevents bad surprises after birth.

Prof. Dr. Ulun ULUĞ
Written by Prof. Dr. Ulun ULUĞ. 0 comments 4816 views

Non Invasive Prenatal Test (NIPT)

Newborn health begins in the womb. Although the cause has not been determined exactly, some fetuses may experience chromosomal, that is, genetic problems. Many of these cause problems that seriously reduce quality of life. The earlier we detect genetic problems in pregnancy, the more meaningful and practical it will be.

Approximately one in every 700 births, babies with 3 pieces of chromosome 21, which we call Down syndrome, are born. In addition, babies with genetic anomalies containing other chromosomes that appear to be rarer may also be born.
Cell-free fetal DNA (cffDNA) test, or non-invasive NIPT: It is a test that can be used to assess the risk to the developing baby (fetus) of a pregnant woman with chromosomal disorders such as Down syndrome (trisomy 21), Edwards syndrome (trisomy 18). It is also a test that can predict trisomy 13 Patau syndrome, microdeletion syndromes or sex chromosome problems.

Why NIPT?

The NIPT test is one of the options that can be recommended for prenatal screening for chromosomal disorders. Traditional testing options include the first trimester Down syndrome screen and the second trimester maternal serum screen. The screening approach chosen will depend on what technology is available and when you first seek prenatal care.
Unlike other screening tests, this test is much more reliable and sensitive as it finds the baby's DNA in the mother's blood.

According to the American College of Medical Genetics and Genomics (ACMG), NIPT is the most sensitive screening option for Down syndrome. ACMG recommends that healthcare practitioners inform their pregnant patients about this screening option, regardless of their age and whether they are at high risk of carrying a baby with a chromosomal disorder. The NIPT scan is more sensitive than the traditional DUB or TRIP screening tests compared to ACMG. It may replace these tests to screen pregnancies at risk for Down, Edwards, and Patau syndromes.

The American College of Obstetricians and Gynecologists (ACOG) cautions that currently any pregnant woman can choose NIPT regardless of the risk of carrying a baby with a chromosomal abnormality, but understands the limitations and benefits of this screening option. recommends it.

Factors that increase the risk

  • Advanced maternal age: 35 years or older.
  • Fetal ultrasound result showing increased risk of chromosomal abnormality.
  • Previous pregnancy with trisomy.
  • A positive first trimester or second trimester maternal screening test.
  • A known balanced chromosomal translocation in the mother or father associated with trisomy 13, 18, or 21. (switched pieces of chromosomes)

The NIPT test is a screening test, not a diagnostic test. If there are abnormal findings on routine prenatal tests or cffDNA tests, more invasive confirmatory testing may be indicated using procedures such as chorionic villus sampling (CVS) or amniocentesis to diagnose a chromosomal abnormality.

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