Everything you need to know about prenatal screening tests

Prenatal screening tests play an important role during pregnancy by assessing the health of the fetus and determining the risk of various genetic disorders and birth defects. Generally non-invasive, these tests are a combination of blood tests and ultrasounds done in the first and second trimesters. Although they do not provide a definitive diagnosis, they help identify potential problems with high accuracy (>99%), indicating the need for additional diagnostic tests, such as amniocentesis. Information obtained from prenatal examinations allows parents and health professionals to make well-informed decisions about pregnancy and possibly prepare for any special care that the baby may require after birth.

In this text you will learn:

- What are prenatal screening tests?

- What are prenatal NIPT tests?

- How do NIPT tests work?

- Advantages of NIPT tests;

- Advantages of NIPT tests;

- How to prepare for NIPT testing?

- Specificity, sensitivity and accuracy;

- What do prenatal screening tests reveal?

- Advantages of prenatal screening tests.

Expecting a baby is an exciting journey filled with joy, anticipation and numerous decisions. One of the most important aspects of prenatal care involves screening tests, which help preserve the health and well-being of mother and baby. These tests provide valuable information about the baby's development and can detect certain defects at an early stage. This guide covers everything you need to know about prenatal screening tests, helping you make informed decisions during pregnancy.

What are prenatal screening tests?

Prenatal screening tests are medical procedures performed during pregnancy to assess the health of the fetus (future baby). Their goal is to identify any genetic or chromosomal abnormalities, birth defects, or other conditions that could affect the baby's development. These tests are usually non-invasive and can give parents early information about their baby's health.

What are prenatal NIPT tests?

Non-invasive prenatal tests (NIPT) are a more modern and advanced screening method that analyzes small fragments of fetal DNA circulating in the mother's blood. NIPT can be done as early as 10 weeks of pregnancy and is very accurate in detecting certain genetic conditions.

How do NIPT tests work?

NIPT tests work by analyzing free fetal DNA (cfDNA) present in the mother's blood. These DNA fragments, after being isolated from the mother's blood and analyzed accordingly, provide genetic information for the fetus. During the test, a sample of blood is taken from the mother and sent to a laboratory, where advanced technologies (NGS) are used to detect chromosomal abnormalities.

Advantages of NIPT tests

1. Early detection: NIPT can be done as early as 10 weeks of pregnancy, allowing for early intervention if needed.

2. High accuracy: NIPT tests have high sensitivity and specificity, significantly reducing the chances of false positive and negative results.

3. Non-invasiveness: Unlike traditional diagnostic tests such as amniocentesis, NIPT involves a simple blood draw, which poses no risk to the mother or the baby.

4. Comprehensive screening: NIPT can detect a range of chromosomal abnormalities, including Down syndrome (trisomy 21), trisomy 18 and trisomy 13, or over 90 genetic abnormalities.

How to prepare for the NIPT test?

Preparing for the NIPT test is simple:

1. Consult your doctor: Discuss the test with your doctor to understand its benefits and limitations.

2. Schedule the test: Schedule the test around the 10th week of pregnancy or later as recommended by your doctor.

3. No special preparation: Unlike some medical tests, NIPT requires no special preparation, but it is always best to consult a genetics laboratory.

4. Discuss the results: schedule a follow-up appointment to discuss the results and possible next steps.

Specificity, sensitivity and accuracy

Sensitivity: Sensitivity refers to the ability of a test to accurately identify abnormalities. NIPT has a sensitivity rate of over 99% for detecting Down syndrome.

Specificity: Specificity is the ability of a test to accurately identify any abnormalities. NIPT also has a high specificity rate, reducing the likelihood of false positives.

Accuracy: Combining high sensitivity and specificity, NIPT offers an overall accuracy of around 99% for common chromosomal abnormalities, making it a reliable screening tool.

What do prenatal screening tests reveal?

Prenatal screening tests can detect a variety of conditions, including:

1. NIFTY PRO – chromosomal abnormalities: such as Down syndrome (trisomy 21), Edwards syndrome (trisomy 18), Patau syndrome (trisomy 13) and other structural and numerical changes (total 94).

2. NIFTY MONO – Physical abnormalities and mental disorders: Including heart defects and other structural problems.

Benefits of prenatal screening tests

- Early detection: Enables early intervention and planning.

- Non-invasiveness: Most screening tests pose no risk to the mother or the baby.

- Safe and simple: Ensures safety regarding the health of the baby with only 10 ml of blood from the mother.

- Reliability: More than 15 million tests done worldwide.

- Fast results

Prenatal screening tests are a valuable tool in modern gynecology, providing essential information about your baby's health and development. Understanding the types of tests available, what they can reveal, and their benefits and limitations will help you face your pregnancy with confidence and peace of mind. Always consult your doctor/gynecologist to make the best decisions for you and your baby.

By staying informed and proactive, you can ensure the best possible start for your baby's journey in life. Happy and healthy pregnancy!

Learn more at the following link: https://www.ginekalikslab.com/rs/products/nifty