As you go into your pregnancy, you will be required to take tests and screenings that will determine your pregnancy’s and your baby’s condition. This will ensure that any issue or condition during your pregnancy will be immediately diagnosed and addressed.
One of the tests you have to take during pregnancy is the NIPT test pregnancy. Read on for more information about the NIPT test pregnancy.
What is a NIPT Test Pregnancy
Photo by Matilda Wormwood from Pexels
During pregnancy, some of the baby’s DNA travels to the mother’s blood. In order to look for various malformations, the non-invasive prenatal test (NIPT) analyses the genetic information in this DNA. The test is very sensitive to Down syndrome.
NIPT is a prenatal test that examines DNA from your baby’s placenta in a sample of your blood to identify whether you have an increased risk of giving birth to a kid who has a genetic disorder.
However, a test like the NIPT cannot determine if your child actually has a chromosomal disorder; it can only assess the likelihood that your child has one.
The NIPT test pregnancy is also a risk-free and extremely efficient method of detecting conditions such as:
- Edwards disease (trisomy 18)
- Syndrome Patau (trisomy 13)
- Turner disease
The blood test looks at tiny pieces of placental cell-free DNA (cfDNA) present in a pregnant woman’s blood. CfDNA is created when these cells die and degrade, releasing some DNA into the circulation.
It is essential to comprehend that the NIPT test for pregnancy is a screening test, not a diagnostic examination. This suggests that it is unable to identify a hereditary condition with certainty. But it can show if the risk of a hereditary illness is high or low.
Can NIPT test be wrong for down syndrome
The NIPT has high sensitivity and can identify cases of Down syndrome in more than 99 percent of people. It is still a screening test, though, and not a diagnostic one.
This means that rather than giving you a definitive answer, it may only be able to tell you whether there is a greater chance of having an atypical child.
The only way to know if your child has Down syndrome is to undergo a diagnostic procedure like chorionic villus sampling (CVS) or amniocentesis.
How accurate is the NIPT test for pregnancy
According to a 2016 study, NIPT has an extremely high sensitivity (true positive rate) and specificity (true negative rate) for detecting Down syndrome. Although greatly reduced, the sensitivity is still extremely strong for other illnesses including Edwards and Patau syndrome.
But it’s important to emphasize that the test’s diagnostic efficacy and accuracy aren’t ideal.
According to another 2016 study on false negative NIPT results, a trisomy 18 (Edwards syndrome) or trisomy 21 (Down syndrome) remains undiagnosed for every 1 in 426 samples of people at high risk for common chromosomal abnormalities because of specific biological differences within the chromosome itself.
Additionally, NIPT screening results could be mistakenly positive. If the NIPT results are positive, your doctor will probably recommend additional diagnostic tests.
Understanding prenatal testing
Everything you need to know during your first prenatal visit
Should I be Taking Prenatal Vitamins?
Additional diagnostic tests
Two of the more invasive diagnostic procedures are prenatal chorionic villus sampling (CVS) and amniocentesis.
The CVS test uses a small sample of placental cells instead of amniocentesis, which uses a sample of amniotic fluid. Both tests can determine whether the fetus has any chromosomal abnormalities with greater diagnostic certainty.
Because there is a minor chance that you could miscarry from these two tests, your medical staff will recommend them with caution and in a selective manner.
NIPT test gender accuracy
Photo by Matilda Wormwood
Additionally, some labs check the baby’s gender and screen for sex chromosomal issues through the NIPT test pregnancy.
The NIPT offers extremely high diagnostic accuracy for determining the fetus’s sex. The test’s sensitivity and specificity are both 99.6 percent. The positive and negative predictive values are fairly high, at 99.6% and 98.8%, respectively.
With gestational age, NIPT’s diagnostic precision rises. Sensitivity is 74.5 percent prior to week 7, 94.8 percent between weeks 7 and 12, and 99.0 percent after week 20.
NIPT test pregnancy procedure
Both you and your baby are safe because the NIPT test pregnancy is performed with a simple maternal blood sample. Your blood will be drawn and brought to a certain lab for review and findings.
Your results will be given to the office of your OB-GYN or midwife within 8 to 14 days. Although each office may have a different process for delivering results, a staff member from your healthcare provider’s office will likely call you and give you guidance.
You might opt to get a NIPT test for pregnancy if you have one of the following conditions:
- Your overall first-trimester screening results show that you are at an increased risk of having a child with Down syndrome.
- You haven’t got the combined first-trimester screening test.
- You want to be sure that you are at higher risk of certain syndromes before choosing diagnostic techniques with a low risk of miscarriage, like amniocentesis or CVS.
- As a pregnant woman, you run a higher risk – you are in old age; you had a baby previously with Down syndrome or another chromosomal condition, etc.
Who offers NIPT test pregnancy in PH
Photo by ANTONI SHKRABA
Several companies currently offer noninvasive prenatal testing, including Genesis Serenity, Harmony, Natera, and MaterniT21.
Each offers panels that look for particular genetic illnesses in a somewhat different way. Some tests look for anomalies like triploidy and microdeletion. Furthermore, while tests from some manufacturers distinguish between maternal and fetal cfDNA, tests from other brands do not (making them less accurate).
The Food & Drug Administration (FDA) has lately warned patients and medical professionals about the likelihood that brands may make exaggerated claims about the efficacy of the tests. The FDA does not analyze these tests.
Always consult your doctor before undergoing any pregnancy or prenatal tests.
NIPT testing cost
Noninvasive prenatal testing (NIPT) in the country costs between PHP 24,500 and PHP 55,000.
When to do the NIPT test
NIPT test pregnancy can be performed as early as 9 weeks into your pregnancy.
Comparatively, the nuchal translucency screening is completed between weeks 11 and 13, the CVS is completed between weeks 10 and 13, and the quad screen is completed between weeks 14 and 22.
Amniocentesis, on the other hand, is typically completed between weeks 16 and 18 or as late as weeks 23 and 24.
NIPT test pregnancy results
The delivery of your NIPT findings could take up to two weeks. If the results is “bad,” “abnormal,” or “high risk,” your kid is likely going to be affected; if the result is “good,” “abnormal,” or “low risk,” your baby is unlikely to be tested for any of the chromosomal illnesses.
An abnormal NIPT result can be confirmed by a diagnostic test, like a CVS or amniocentesis. You should discuss your options with your doctor, midwife, or genetic counselor.
The NIPT prenatal test is a reliable technique for elective screening to identify the genetic risk of a fetal chromosomal abnormality, such as Down syndrome, in the first trimester of pregnancy. You are solely responsible for choosing the NIPT. Before submitting to any test, make sure you follow your doctor’s instructions.
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