NIPT: A Screening Test to Assess the Risk of Chromosomal Abnormalities in the Fetus

Pregnancy is one of the important phases that requires regular monitoring of the health of the mother and fetus. Along with advances in medical technology, various examinations are now available that can help determine the condition of the fetus from the early stages of pregnancy. One of them is NIPT (Non-Invasive Prenatal Testing).

According to dr. J. Kevin Djuanda, SpOG, Obstetrics & Gynecology Specialist at National Hospital, NIPT is a screening test that can be performed from early pregnancy to assess the risk of chromosomal abnormalities in the fetus. This examination is performed using a maternal blood sample, so it does not require direct sampling from the fetus. Here is the explanation!

What Is NIPT?

Non-Invasive Prenatal Testing (NIPT) is a prenatal test that analyzes fetal genetic material present in the mother’s blood. During pregnancy, there are DNA fragments originating from the fetus that enter the mother’s bloodstream, containing fetal genetic material that can be examined.

By taking a blood sample from the mother, NIPT can help assess the risk of certain chromosomal abnormalities in the fetus. NIPT can generally be performed starting at 10 weeks of pregnancy (in some conditions, adjustments may be made, such as in twin pregnancies). This examination does not require invasive procedures such as amniotic fluid sampling, making it relatively safe for the mother and pregnancy.

Diseases That Can Be Detected Through NIPT

NIPT is primarily used to screen for several chromosomal abnormalities, including:

  1. Trisomy 21 (Down syndrome), a condition caused by an additional copy of chromosome 21
  2. Trisomy 18 (Edwards syndrome), a condition caused by an additional copy of chromosome 18

Other chromosomal abnormalities, including certain abnormalities involving the sex chromosomes, depending on the type of NIPT performed.

It is important to understand that NIPT is a screening test, not a diagnostic test. This means that NIPT results can indicate whether the risk of a chromosomal abnormality is low or high, but cannot absolutely confirm that the fetus has the abnormality.

How Important Is NIPT for Pregnant Women?

NIPT can be one of the testing options to help evaluate the risk of chromosomal abnormalities in the fetus, especially in pregnancies with certain risk factors. Some conditions that may be considered for NIPT include:

  1. Having a family history of genetic diseases or certain congenital abnormalities
  2. Having a history of a previous pregnancy with a chromosomal abnormality or congenital abnormality
  3. Having certain risk factors as assessed by a doctor
  4. Wanting to obtain additional information regarding the risk of chromosomal abnormalities in the fetus despite having no specific risk factors

Basically, all pregnant women may consider NIPT, but this examination is not always required for every pregnancy. The decision to undergo NIPT should be discussed with a doctor according to each mother’s condition and needs.

NIPT and First-Trimester Ultrasound

NIPT is not a replacement for other pregnancy examinations. This examination can be combined with a first-trimester ultrasound to obtain a more comprehensive overview of the pregnancy and fetal development.

Ultrasound can provide information about fetal development and structure, while NIPT provides information about the risk of certain chromosomal abnormalities. Therefore, the two can complement each other in pregnancy monitoring.

What If the NIPT Results Show a High Risk?

If NIPT results indicate a high risk of a chromosomal abnormality, it does not mean that the fetus definitely has the abnormality. The doctor may recommend further examinations to confirm the condition of the fetus. Certain diagnostic tests may involve more invasive procedures, such as sampling amniotic fluid (amniocentesis) or placental tissue (chorionic villous sampling), according to the condition and medical considerations.

Therefore, NIPT results should always be discussed with a doctor. The doctor will consider the NIPT results together with ultrasound results, the mother’s and family’s medical history, as well as other factors before determining the next steps in examination.

Do Women Who Have Experienced a Miscarriage Need to Have NIPT?

A history of miscarriage does not automatically mean that a mother needs to undergo NIPT. However, a history of previous pregnancies, including miscarriage or pregnancy with certain abnormalities, may be part of the doctor’s consideration in determining the necessary examinations.

Each pregnancy has different conditions and risk factors. Therefore, mothers who have a history of miscarriage or a history of pregnancy with congenital abnormalities should consult a doctor to determine the most appropriate examinations.

Conclusion

NIPT is one of the developments in prenatal testing technology that can help prospective parents and doctors assess the risk of certain chromosomal abnormalities in the fetus from the early stages of pregnancy. This examination is performed through the mother’s blood, so it does not require an invasive procedure involving the fetus.

Although it can provide highly valuable information, NIPT remains a screening test and is not a definitive diagnosis. High-risk results need to be confirmed through further examinations recommended by a doctor. To obtain information and examinations appropriate to your pregnancy condition, consult an obstetrics and gynecology specialist regarding your NIPT needs.

National Hospital provides NIPT services as part of its examination services to support the monitoring of maternal and fetal health throughout pregnancy. Consult with a doctor to determine whether NIPT is appropriate for your pregnancy condition and needs.

Doctors Team - NIPT: A Screening Test to Assess the Risk of Chromosomal Abnormalities in the Fetus