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Invasive prenatal testing

22.06.2023

2 mins of reading

Kinga Żebrowska

Graduate of Warsaw Medical University

Modern perinatology allows patients to be accurately diagnosed from the very beginning of pregnancy. Invasive prenatal testing aims to determine with almost 100 percent certainty, among other things. The karyotype of the child, and thus whether or not it has chromosomal aberrations. Find out what types of invasive tests are and when they are performed.

Invasive prenatal testing-when is it performed?

Invasive prenatal testing is not routinely performed on all pregnant women. The gynecologist recommends them in certain situations. It is considered that invasive prenatal testing should be performed in case of high (>1:300) risk of trisomy 13/18/21 in the first trimester examination. They are also performed when the doctor notices anatomical abnormalities in the child. If the PAPP-A test and ultrasound of the 1st trimester did not indicate an increased risk of defects, and in the later weeks of pregnancy, even in the 3rd. trimester, the baby, for example, grows less well, also may be proposed to perform karyotype testing through invasive prenatal testing. This way, specialists know what to expect, and their treatment will vary depending on the outcome.

Invasive prenatal testing- types

Invasive prenatal tests include chorionic villus biopsy, cordocentesis and amniocentesis. They differ in the timing of the test, but also in the material taken. In the case of chorionic villus biopsy, as the name implies, chorionic villi are taken, in cordocentesis – blood from the umbilical cord, and in amniocentesis, on the other hand, amniotic fluid is taken. The indications for a particular test are also different. Cordocentesis is performed in cases of suspected fetal anemia and increased maximal systolic velocity in the middle cerebral artery. With the diagnosis of anemia, it is possible to immediately perform a post-fetal transfusion, which significantly improves his prognosis. This is because most often anemia is due to a serological conflict or is the result of parvovirus.

Invasive prenatal testing-is it safe?

Currently, the risk of complications associated with invasive prenatal testing is considered to be less than 0.5%. The most dangerous of these is miscarriage or intrauterine death. There may also be drainage of amniotic fluid or spotting from the genital tract. In extremely rare cases, the baby is injured by the puncture needle. Complications with invasive prenatal testing, however, are extremely rare. Ideally, if you need to perform this type of test, choose a center with experience in prenatal diagnosis and a specialist who performs similar procedures on a daily basis.

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