Prenatal testing

Every pregnant woman should undergo a pregnancy ultrasound examination at least three times – once in each trimester of pregnancy: between the 11th and 13th week of pregnancy; then between the 18th and 22nd week of pregnancy and after 30 weeks of pregnancy. Examination dates are important to the doctor who pays attention to specific aspects of fetal development each time.

Based on the ultrasound examination, we can determine the age and sex of the fetus and observe its development. The standard 2D US scan, which has been used for years, gives two-dimensional images. A specialist will read much important information from it – the size and shape of the fetal body parts, internal organs, placenta, amount of amniotic fluid, etc. Newer-generation ultrasound machines also allow for assessing blood flow (Doppler) through various vessels of the fetus and pregnant women, providing information about the function of the heart and placenta.

3D ultrasound scans allow for three-dimensional reconstruction of the image of the fetus and the inside of the uterus. During the 3D examination, parents can see the face and exact shape of the fetus.

The advantage of the 4D ultrasound scan over the ones mentioned above is the possibility of observing a three-dimensional image in real-time. This is the favorite one of the prospective parents. Thanks to it, they can see the child waving his hands and feet, making faces. 4D ultrasound also allows earlier treatment of congenital anomalies.

It is recommended that the first pregnancy ultrasound is performed between the 6th and 10th week of pregnancy. This test confirms early pregnancy. It is possible to determine: the location of the embryo and the correctness of its implantation inside the uterine cavity, the number of embryos, the length of pregnancy, and the size of the fetus. You can listen to the fetal heart rate for the very first time.

The nuchal translucency (NT) scan is performed between the 11th and incomplete 14th week of pregnancy. It is a measurement of the amount of fluid left in the neck of the fetus. Additionally, the basic anatomical structures of the fetus are assessed, along with the presence of the nasal bones and the exact size of the fetus. The scan allows estimating the individual risk of chromosomal anomalies, including Down syndrome.

With the “genetic screening” ultrasound scan, it is possible to detect up to 90% of chromosomal anomalies. Mother’s age and the results of blood tests increase the effectiveness of screening up to 95%.

The PAPPA test is a non-invasive prenatal test that complements the 2D ultrasound. It should be performed on all pregnant women (as recommended by the Polish Gynecological Society). This test is performed between the 11th and 14th week of pregnancy.

The PAPP-A test estimates the risk of Down syndrome, Edwards syndrome, Patau syndrome, and central nervous system (CNS) defects.

This scan is performed between the 18th and 22nd week of pregnancy. The optimal period for this study is the 22nd week. Some people refer to it as a “mid-pregnancy scan” due to the timing around mid-pregnancy.

Its main goal is a detailed anatomy scan. During the examination, the development of the head (especially the brain and face), spine, chest, heart, other internal organs, and limbs are assessed.

An examination of the placenta is also performed. If it is low-lying(less than 5 cm from the cervix), a repeated scan between the 34th and 36th week is recommended to assess the placenta’s degree of migration (floating). During this examination, it is possible to diagnose cleft lip and palate. Fetal sex can be found out.

This scan is performed between the 24th and 34th week of pregnancy. It provides information on the progress of fetal growth. The amount of amniotic fluid and the degree of placenta maturation are measured. The internal fetal organs are checked out again, measurements to assess the weight, and check the blood flow in the umbilical artery and the central artery of the brain. The flow in the heart is also assessed to exclude possible heart defects appearing in the late fetal period.

During the scan, the placenta and the amount of amniotic fluid (the so-called AFI) are examined. Parents have the opportunity to listen to the child’s heartbeat.

The Harmony test is a non-invasive prenatal test that allows you to assess the risk of 8 different genetic syndromes, including Down syndrome, Edwards syndrome, Patau syndrome, Klinefelter syndrome, and Turner syndrome. Fetal sex can be revealed in Harmony.

The test does not indicate any risk of mosaicism, partial trisomies, or translocations.