NIPT (Non-Invasive Prenatal Testing)
NIPT (Non-Invasive Prenatal Testing) is a non-invasive blood test to detect chromosomal abnormalities
At OMNI Ultrasound & Gynaecology Care in Sydney we now provide our patients with a non-invasive test for chromosomal abnormalities. This test is able to detect three primary chromosomal abnormalities: trisomies 13, 18 and 21, as well as aneuploidies of sex chromosomes.
Aneuploidy is an abnormal number of chromosomes within a cell. Aneuploidy occurs when the chromosomes do not separate properly between two cells and are a result of too few or too many copies of chromosomes. However, the risk of chromosomal abnormalities is very small: around 1 in 160 live births.
The NIPT (Non-Invasive Prenatal Testing) measures genetic material from your blood.
This non-invasive test measures genetic material which may be related to conditions such as Down syndrome, Edward’s syndrome and Patau syndrome.
The NIPT (Non-Invasive Prenatal Testing) can also look for conditions caused by missing and extra copies of other types of chromosomes: these are called sex chromosomes (X and Y).
Why your doctor may recommend this test
If a pregnant woman’s doctor believes her patient has a chance of fetal aneuploidy then they may recommend NIPT (Non-Invasive Prenatal Testing). This test also provides women with an option other than the invasive tests CVS (chorionic villus sampling) and Amniocentesis.
Your doctor may recommend this test if:
- You have an abnormal or ‘positive’ first and or second trimester serum screen result
- You have confirmed pregnancy of at least ten weeks gestation
- Your ultrasound shows concerns with fetal growth and/or development
- You are considered of advanced maternal age
- You have a family history of a chromosomal condition
Unlike other tests for chromosomal abnormalities which either yield uncertain results or carry risk of miscarriage, NIPT (Non-Invasive Prenatal Testing) is a relatively safe and painless test to ascertain the health and wellbeing of your unborn baby. This form of test also:
- Only involves a blood test from your arm
- Tests for chromosomes 21, 18 and 13
- Can be performed as early as ten weeks gestation
- Tests for sex chromosome conditions
Unfortunately this cannot guarantee that your baby won’t have any medical issues. This is because the NIPT (Non-Invasive Prenatal Testing) is only designed to look for aneuploidies of chromosomes 21, 18 and 13 as well as sex chromosomes. Even if the test comes back negative for aneuploidy it does not completely rule out all of the potential problems with those specific chromosomes.
The only way to be certain that your baby does or does not have a chromosomal abnormality is with an invasive test such as CVS (Chorionic Villus Sampling) or Amniocentesis. However, the invasive tests have a 0.5-1% risk of miscarriage.