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Non-Invasive Prenatal Test (NACE)

What is NACE?

A pregnant woman undergoes a series of tests to detect the possibility of chromosomal abnormalities in the fetus. Non-Invasive Prenatal Test (NACE) is one such test that’s gained immense attention lately.
Also called NIPT, this test is considered a safer procedure than other invasive screening tests. It draws the pregnant woman’s blood to rule out the possibility of Down Syndrome, Edwards Syndrome, and Patau Syndrome.
Although the test results are believed to be accurate in most cases, they can generate false positives. Note that NIPT tells only the likelihood of the fetus being born with a specific chromosomal abnormality. Further screening tests might be needed if your NIPT results are positive.

NACE (Non-Invasive Prenatal Test) |Australian Concept

Understanding Genetic Material in Pregnancy

During pregnancy, parts of the fetus’ DNA are mixed with the mother’s bloodstream. DNA testing shows the chromosomal defects in the fetus at an early age. The most reliable way to take the DNA cells of the fetus is through amniocentesis. This procedure requires inserting a thin needle into your abdomen to collect the sample of amniotic fluid.

While the test is 100% accurate, it carries a small risk of miscarriage. NACE is a safer alternative, as all it takes is the mother’s blood test to know whether a child is at risk of being born with chromosomal defects. The method is non-invasive and poses no threat to the developing fetus.

Genetic Material in Pregnancy. A Pregnant women image

Accuracy and Reliability of NACE

Earlier, NACE was recommended for women who were at an increased risk of pregnancy complications. A woman who got pregnant at 35 years or above was asked to take a Non-Invasive Prenatal Test to detect chromosomal abnormalities in the fetus. Other than that, women with a family history of genetic defects in kids and those who have had a child with a chromosomal abnormality had to take the NACE screening test. Nowadays, most women choose to undergo this blood test. NACE is considered 97-99 percent accurate in detecting chromosomal abnormalities, especially Down’s, Patau’s, and Edwards’ syndromes. It is comparatively more accurate than your routine blood work conducted in the initial months of pregnancy. However, NACE might not be reliable in detecting other defects, including Turner Syndrome.
Research shows that the test has detected many false negatives and positives in detecting Turner Syndrome in pregnant women. That’s why most gynecologists recommend amnio and CVS to get a more accurate diagnosis if the test results from NACE turn out to be positive. Note that NACE can also detect the sex of the fetus and most sex-related abnormalities.

Precision in Chromosomal Analysis

It’s important to note that no screening test is 100% accurate (except for amniocentesis) in detecting chromosomal abnormalities in an unborn child. NIPT or NACE is quite accurate in catching certain types of fetal chromosomal defects. As mentioned earlier, it might show false positives for certain conditions but is considered highly accurate (up to 99%) in detecting Down Syndrome. Overall, the test results are highly accurate.

Clinical Validation and Research

Many clinical studies have been conducted to validate the accuracy of NACE. These studies involve pregnant women who have undergone this blood test. Fortunately, these studies have shown that NIPT is a reasonably accurate procedure and is considered the safest screening test for detecting chromosomal issues in unborn children.

Advantages of NACE over Traditional Methods

NIPT is done at an early stage of your pregnancy, i.e., around 9-10 weeks (earlier than amniocentesis and other invasive screening). NIPT is better than its invasive screening counterparts in that it doesn’t pose the risk of miscarriage or any complication in the mother or the fetus.

The fewer false positives and an improved detection rate have made it a better alternative to quad screening and ultrasounds. It also reduces the need for invasive screening procedures, given that you test negative for NIPT.

Counseling and Decision-Making Support

Non-invasive prenatal tests are optional but highly recommended for women above 35 years old or those diagnosed with a complicated pregnancy. Today, healthcare providers discuss the non-invasive screening tests with each patient, regardless of age or risk level. You must understand what the test involves, how it’s conducted, and the accuracy of the results before making any decision.
The counseling phase is crucial for each pregnant woman, as it helps you determine whether you should proceed. There are other screening options, too. Your healthcare provider will help you choose the most appropriate, i.e., if they need to take an early pregnancy screening test.

Genetic Counseling in NACE

NACE results won’t show a yes or a no for a chromosomal abnormality. It only tells your child’s risk level for developing a chromosomal issue based on the mother’s blood test. Unlike amniocentesis, the test itself isn’t scary, but you might be concerned about the results. It’s best to work with a genetic counselor to know how the test detects different chromosomal defects and what the results mean.

Decision-Making Support for Parents

One of the most challenging decisions for parents after receiving an NIPT positive result is whether to continue the pregnancy or not. Instead of making any hasty decision, talking to a professional gynecologist and discussing other screening tests is important. As mentioned above, NACE is accurate, but not for all chromosomal abnormalities. Schedule an appointment with a genetic counselor to understand the type of abnormality detected and how it will affect your child’s quality of life. You can also get further screening to confirm the findings of NACE.

Cost of NACE in Pakistan

The NACE test cost in Pakistan might vary from lab to lab. It also depends on factors like age, the type of chromosomal abnormality you want to detect, any existing complications, and more. Your insurance might cover the NACE test if you have a high-risk pregnancy or the mother is above 40 years old.
Reach out to the best IVF clinic in Pakistan to discuss the procedure for NACE, its cost, and further steps in confirming chromosomal abnormalities in an unborn child.

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