You are likely to be in the first trimester if you want information about noninvasive prenatal screening (NIPT).
This time is full of joy and excitement. However, it can also cause jitters if your OB/GYN or midwife begins to discuss genetic testing. It could make to-be-momsanxious to decide on whether to screen their babies for any potential health issues.
We know that making such decisions during your journey to parenthood is hard. However, being well-informed is one of the best ways to feel confident. We will help you understand the NIPT screening tests and what they can (and cannot) tell you. This will empower you to make the right decision for your baby.
The NIPT test: What you need to know—
The NIPT Test is also known as the noninvasive prenatal screening. Your healthcare provider might talk to you about the NIPT prenatal test, which can be used to determine if your baby is susceptible to genetic abnormalities such as chromosomal disorder.
The test is used most often to determine the risk of Down syndrome or trisomy 21, Edwards syndrome, and Patausyndrome, along with conditions that are caused by missing or extraX and Ychromosomes.
The blood test examines tiny amounts of cell-free DNA (cfDNA), that is present in the blood of a pregnant woman. These cells are destroyed and cfDNA is released into the bloodstream.
It’s important to remember that NIPT is a screening and not a diagnosis test. It cannot diagnose a genetic condition with 100% certainty.
Positively, cfDNA can also answer a huge question: Are you carrying a boy? This prenatal test can tell you your baby’s sex in the first trimester, which is earlier than any ultrasound.
The working of NIPT—
The NIPT can be performed using a simple maternal blood draw. This is safe for the motheras well asthe baby. After your blood has been drawn, it will then be sent to a lab where the technicians will analyze it.
Within 8 to 14 days, the results are sent directly to your OB/GYN or midwife. Although each office may have a different delivery policy, someone from the staff of your healthcare provider will likely call you to offer advice.
Who should take the test?
It is typically offered to women based upon the recommendations and protocols of their OB-GYN. Note that there are certain risk factors that make providers recommend it more strongly. And the risk factors includea paternal or maternal chromosomal anomaly,a family or personal history of a pregnancy that has a chromosomal anomaly, and maternal age of35 or more at the time of delivery.
The decision to have the NIPT screen done is a personal one. It’s okay to take your time and decide what’s best. Talking to your healthcare provider, or a genetic counselor, can help you make this decision.
Understanding the NIPT results—
The NIPT measures fetalcfDNA levels in mother’s bloodstream which comes from the placenta. This is called the fetal fraction. The fetal fraction should be greater than 4 percent to get the best test results. This is usually around the 10th week, which is why it is recommended to have the test after that time.
This test will examine specific chromosomes in order to determine if the respective percentages of cfDNA are “normal”.
If the test result falls within the normal range, it is declared “negative.” This indicates that the fetus is at lower risk for genetic conditions caused by chromosomes.
A higher cfDNA value than the normal range could indicate a positive result. This means that the fetus might be at greater risk for a genetic condition. Please be aware that NIPT results are not conclusive. To confirm any positive fetal chromosomal anomaly or related disorder, further testing is required.
There is also a low chance of getting a false positive NIPT result. This could mean that a baby may be born with a genetic disorder that was not detected by the NIPT or other screenings during pregnancy.
The accuracy of NIPT test?
According to a study, NIPT has a high sensitivity (true-positive rate) and specificity for Down syndrome. The sensitivity for other conditions, such as Edwards or Patau syndrome is slightly lower but still strong.
However, it is important to remember that the test does not guarantee 100% accuracy or diagnosis.
The study also found that 1 in 426 people at high risk of common chromosomal anomalies was diagnosed with a trisomy 18 or 21 (Edwards) due to biological differences within the chromosome.
False positive NIPT screening results are possible. Your healthcare provider may order additional diagnostic tests if you have a positive result from NIPT. Sometimes, these additional tests show that there is no chromosomal abnormality in the baby.
Your NIPT screening results may be positive. If this happens, your OB/GYN or midwife could recommend additional genetic testing. Some of these tests can be more difficult, such as amniocentesis and prenatal chorionic villus sampling (CVS).
The CVS test uses a small amount of cells from the placenta while amniocentesis requires a sample amniotic fluid. Both can be used to determine if there are any chromosomal abnormalities in the fetus with greater diagnostic certainty.
These two tests may carry the slight risk of miscarriage. They are recommended cautiously and selectively. This is based on the collaboration between you and your doctor.
The NIPT is ultimately your decision. It can also have an emotional effect on those who take it. Talk to your trusted OB/GYN or midwife if you have questions or concerns regarding the NIPT screen.