Family planning may not come as easily as other parts of parenthood. Most parents go through starting a family with optimism, and expectations can make them overlook cautious preparations. Like many other prenatal testing methods, NIPT or non-invasive prenatal testing, can reveal the risks of your baby’s future health. Many parents rely on it as the first screening, especially if they need to check for certain family conditions, or if they are unaware of any family history entirely.
It’s a very accessible option for expectant parents to get a clear picture and stay informed about their baby’s future health after birth.
What is a NIPT Test?
You may come across the term NIPT, or non-invasive prenatal testing during your initial clinical or hospital visit. This screening test analyzes fragments of fetal DNA present in your blood to detect chromosomal disorders such as Down syndrome, trisomy 18, and trisomy 13. NIPT can also reveal the sex of your baby and identify missing or duplicated sections of chromosomes, as well as sex chromosome disorders like Turner syndrome.
It’s important to understand that while NIPT is highly sensitive, it provides an increased chance of these genetic conditions rather than a definitive diagnosis. If your NIPT results show a higher risk, further diagnostic tests such as CVS or amniocentesis can be performed to confirm the presence of chromosomal differences.
How Does a NIPT Test Work?
NIPT works chromosomal abnormalities by measuring cell-free fetal DNA (cffDNA) present in the mother’s blood, which comes from the placenta during pregnancy. This fetal DNA is used to examine specific chromosomal regions for any irregularities. As a non-invasive procedure, it poses no risk to either the fetus or the mother unlike amniocentesis. The test requires only a simple blood sample from the mother.
One thing to keep in mind is that the results from a NIPT test only lists the likelihood of chromosomal abnormalities, and does not count as a definitive diagnosis. If your results are positive, it has to be confirmed with further diagnostic testing like the aforementioned amniocentesis or chorionic villus sampling (CVS). Additionally, NIPT might not be suitable for all pregnancies so you should discuss with our doctors first.
Genetic Conditions NIPT Can Detect
Chromosomal Abnormalities
Chromosomal abnormalities can occur spontaneously during the formation of reproductive cells (eggs and sperm) or early in fetal development. This includes numerical, structural, sex chromosome aneuploidies and sex-linked abnormalities.
They can lead to a wide range of physical, developmental, and intellectual disabilities, depending on the nature and extent of the abnormality. The specific impact of an abnormality varies greatly depending on the genes involved and the type of abnormality present.
Down Syndrome: A genetic condition caused by an extra copy of chromosome 21, leading to developmental delays, intellectual disabilities, and distinctive physical traits like slanted eyes and a flattened facial profile.
Edwards Syndrome: Also known as Trisomy 18, this chromosomal disorder arises from an extra copy of chromosome 18. It is associated with severe developmental delays, heart defects, and characteristic physical features, such as clenched fists and overlapping fingers.
Patau Syndrome: Also referred to as Trisomy 13, this chromosomal disorder results from an extra copy of chromosome 13. It is marked by profound intellectual disabilities, heart defects, and physical abnormalities, including cleft lip and palate, extra fingers or toes, and brain malformations.
Klinefelter Syndrome: A genetic condition in males caused by an additional X chromosome, leading to infertility, underdeveloped testes, and potentially reduced muscle mass, tall stature, and learning difficulties.
Triple X Syndrome: A genetic condition in females characterized by the presence of an extra X chromosome, which may result in tall stature, learning disabilities, delayed development, and an increased risk of certain health issues, such as autoimmune disorders and behavioral challenges.
Monogenic Disorders
Detection for monogenic disorders is not typically included in your standard NIPT. Usually, you’ll have to opt in for specific genetic panel if they want to screen a condition with known risk or family history.
Cystic Fibrosis: A genetic disorder caused by mutations in the CFTR gene, leading to the production of thick, sticky mucus that affects the lungs, digestive system, and other organs. This results in chronic respiratory infections, difficulty breathing, and issues with nutrient absorption. Individuals with cystic fibrosis often require ongoing medical care, including respiratory therapy and medication, to manage symptoms and improve quality of life.
Sickle Cell Anemia: A hereditary blood disorder caused by a mutation in the HBB gene, resulting in the production of abnormal hemoglobin called hemoglobin S. This causes red blood cells to become rigid, sticky, and shaped like sickles or crescents. These abnormal cells can block blood flow, leading to pain, anemia, and organ damage. Sickle cell anemia is associated with episodes of severe pain (sickle cell crises), an increased risk of infections, and a reduced life expectancy.
Thalassemia: A genetic blood disorder caused by mutations affecting the production of hemoglobin, the protein in red blood cells that carries oxygen throughout the body. There are different types of thalassemia, with beta-thalassemia and alpha-thalassemia being the most common. The severity of the condition varies, ranging from mild anemia to severe cases that require regular blood transfusions and medical treatment. Thalassemia can lead to symptoms such as fatigue, pale skin, and growth delays, and may cause complications related to iron overload due to frequent transfusions.
Microdeletion Syndromes
Microdeletion syndromes are genetic disorders caused by the deletion of a small segment of a chromosome, which includes several genes. These deletions are often too small to be detected by standard karyotyping and require more advanced genetic testing, such as microarray analysis, to identify. The deleted regions can vary in size but typically involve only a few million base pairs of DNA, resulting in the loss of multiple genes.
NIPT is designed for screening major chromosomal abnormalities and is highly effective for detecting common trisomies. However, it is not generally used to detect microdeletion syndromes. For these conditions, more specialized genetic tests, such as chromosomal microarray analysis or targeted genetic testing, are necessary to identify the specific deletions and diagnose these disorders accurately.
Why Getting a NIPT Might Be a Good Idea
NIPT is beneficial because it offers a safe, highly accurate, and early method of detecting certain chromosomal abnormalities. It minimizes the risks associated with invasive testing, provides timely results, and can offer peace of mind to expectant parents.
Early and Reliable Results
Results from NIPT are available relatively quickly, typically within 1-2 weeks, allowing for timely decision-making. Early detection means that parents can be better prepared for the potential needs and challenges that may arise, and it provides ample time for further diagnostic testing or planning if necessary.
High Accuracy
NIPT has a high sensitivity and specificity for detecting the common trisomies. It is more accurate than traditional screening methods like first-trimester combined screening or quad screen tests. This high accuracy reduces the likelihood of false-positive results and helps in making informed decisions.
Non-Invasive Procedure
NIPT involves a simple blood draw from the mother, which is less invasive compared to other prenatal diagnostic procedures like chorionic villus sampling (CVS) or amniocentesis. It eliminates the risk of miscarriage associated with these invasive tests, making it a safer option for both the mother and the fetus.
Who are the Common Candidates for NIPT?
Women of Advanced Maternal Age: Pregnant individuals who are 35 years old or older have a higher risk of having a baby with chromosomal abnormalities such as Down syndrome (Trisomy 21), making them potential candidates for NIPT.
Women with a Previous Pregnancy Affected by Chromosomal Abnormalities: Pregnant women who have previously had a pregnancy affected by chromosomal abnormalities may choose NIPT for early detection and planning in future pregnancies.
Known Genetic Conditions or Family History: Pregnant individuals with known genetic conditions or a family history of chromosomal abnormalities may consider NIPT for additional reassurance and planning.
How Does It Compare to Other Prenatal Testing Options?
When considering prenatal testing options, NIPT offers distinct advantages over traditional prenatal testing, providing high accuracy rates for detecting common chromosomal abnormalities through its noninvasive process.
Amniocentesis
Amniocentesis involves inserting a thin needle through the abdominal wall into the amniotic sac to collect a sample of amniotic fluid, which contains fetal cells. It provides a definitive diagnosis of chromosomal abnormalities and some genetic disorders. It also can be used to assess fetal lung maturity and genetic disorders. Amniocentesis can test for a wide range of genetic conditions, including those not covered by NIPT.
It is however more invasive due to the needle insertion, which carries a risk of miscarriage (about 1 in 300 to 1 in 500). Additionally, the test is typically performed between the 15th and 20th week of pregnancy, which is later than NIPT.
Chorionic Villus Sampling (CVS)
CVS involves taking a sample of cells from the placenta (chorionic villi) either through the cervix (transcervical) or abdomen (transabdominal). This can be done earlier than amniocentesis, usually between the 10th and 13th weeks of pregnancy. Like the other two prenatal tests, it provides a definitive diagnosis of chromosomal abnormalities and some genetic disorders. It does carry a risk of miscarriage (about 1 in 100 to 1 in 300), as well as potential for infection or injury.
What are the Next Steps After Getting NIPT Test Results?
After receiving positive NIPT test results, most parents would choose further diagnostic tests to confirm and genetic abnormalities. Post-NIPT, genetic counseling is highly recommended to offer guidance on result implications and assist in navigating the available choices. There are many ways parents can prepare and many resources you can use, so you don’t have to feel helpless in the face of the future.
If your child has a non life-threatening condition with possible complications, parents can prepare accommodations and educate themselves on the condition. This can include joining support groups, making appointment with specialists and adjusting the birth plan (such as choosing a hospital with the necessary facilities).
NIPT Test in Malaysia
Visit Dr. Prevents to Get Non-Invasive Prenatal Testing
At the end of the day, a NIPT test is the first step you can take towards peace of mind and an early start to prenatal testing. In Malaysia, Non-Invasive Prenatal Testing is increasingly available and is offered by various healthcare providers and diagnostic labs. The use of NIPT in Malaysia reflects its growing acceptance as a valuable tool for prenatal screening.
At Dr. Prevents, we help support expectant parents through their period of prenatal testing. All of our clinics across Kuala Lumpur and Selangor offer these services. Visit us to consult with our doctors and see if NIPT is what you need.