Prenatal tests - what are they and when should they be performed?

In recent years, the management of pregnancy has significantly evolved. Today's prenatal diagnostics offer the opportunity to monitor the baby's health at every stage of pregnancy, thanks to available prenatal tests.
In the first trimester of pregnancy, with over 99% accuracy, the risk of genetic abnormalities in the fetus can be assessed.

What are prenatal tests?

The extent to which non-invasive prenatal tests can detect aneuploidies, microdeletions, or monogenic diseases in the early stages of pregnancy depends on the type of test.
The screening test PAPPA combined with recommended prenatal ultrasound can detect Down syndrome, Edwards syndrome, and Patau syndrome. It assesses blood flow in uterine arteries, helping to determine the risk of preeclampsia in the third trimester of pregnancy, as well as the risk of intrauterine growth restriction.
Genetic tests performed from the mother's blood, such as VERACITY, VERAGENE, Nifty, or Panorama, have a wide panel for detecting genetic abnormalities.
Invasive prenatal tests are conducted less frequently and are based on medical indications.
Early detection of abnormalities in some cases can improve the baby's prognosis even during fetal life and give the chance for the baby to develop on par with peers after birth.

Types of prenatal tests - non-invasive

Basic non-invasive prenatal tests recommended for every mother between the 11th and 14th week of pregnancy include:
Prenatal ultrasound assessing nuchal translucency, crown-rump length, heart function, and the presence of nasal bones.
PAPPA test measuring the levels of free β-hCG and placental protein A in the mother's blood.
Tests like VERACITY and VERAGENE can be performed from the 10th week of pregnancy, showing 99% sensitivity. Besides detecting trisomies 21, 18, or 13, these tests also assess the risk of various other disorders, including minor genetic mutations, and determine the baby's gender.

Invasive prenatal tests - types

Invasive prenatal tests involve analyzing genetic material obtained from the umbilical cord or the fetal bladder. Although the risk of complications is estimated at only 1-2%, procedures like amniocentesis, chorionic villus sampling, cordocentesis, or fetoscopy can cause concern among parents.

How to prepare for the first prenatal test?

Prenatal tests involving blood sampling do not require special preparation or fasting. Drinking water, which is essential during pregnancy, is encouraged. It's advisable to wear clothing that allows easy access to the forearm for blood collection.

Who should undergo prenatal tests?

Screening genetic tests like VERACITY and VERAGENE are particularly recommended for pregnancies in women over 35, those who have experienced miscarriages, or those who have previously had a child with a genetic disorder. They are also recommended for women with a family history of genetic diseases.

What do prenatal tests look like?

The advantage of prenatal tests like VERACITY and VERAGENE, available on the platform, is that only a small amount of the mother's blood is needed for genetic analysis, similar to routine blood tests. Additionally, in the VERAGENE test, genetic material from the father is analyzed by taking a swab from the inner cheek.
Samples are analyzed using next-generation sequencing, providing over 99% result accuracy, with results typically available within 5-7 days. These numbers are crucial when deciding to undergo the test.

When not to undergo prenatal testing?

Sometimes it might not be possible to obtain a sample from the father's cheek. In such cases, it's better to opt for a different prenatal test, such as VERACITY. There are other contraindications as well, such as:
1. 1A current or recent malignant tumor 2. Blood transfusion within the past year 3. Bone marrow or organ transplant 4. Identified balanced translocation in parents 5. Close blood relationship between mother and father
Discuss these factors with your prenatal care physician.