Prenataltests carried out in the first and second trimester of pregnancy allow the detection of many defects in the developing baby. Non-invasive prenatal tests are safe for both mother and baby.
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What is prenatal testing
Aprenatal examination is the examination of a foetus developing inside the uterus. The aim of prenatal diagnosis is to identify malformations in children as early as possible, which not only allows better preparation for birth, but also to plan treatment while still in pregnancy.
Non-invasive prenatal tests
So-called non-invasive pr enatal tests are screening tests that assess the risk of foetal abnormalities and, if necessary, refer the patient for an invasive test. Non-invasive prenatal tests are completely safe for both mother and child. Non-invasive tests include:
- medical US examination - an examination carried out in the gynaecologist's office, which allows the development of the baby to be determined using Medical US,
- fetal heart echo - allows you to check and determine whether the baby's heartbeat is normal,
- double test or Medical US genetic test with PAPP-A test - conducted between the 11th and 14th week of pregnancy, although the ideal moment indicated by doctors is the 12th-13th week. During Medical US, the age of the pregnancy is assessed based on the CRL (parietal-neck length) of the developing foetus. The anatomy of the foetus is assessed - at this stage it is already possible to exclude many serious defects, such as anencephaly (brainlessness). During the double test, a blood sample is taken from the mother, which, together with the Medical US examination, makes it possible to detect and diagnose, for example, a child with developing Down's syndrome in 95%. The PAPP-A test, together with the measurement of nuchal translucency, parietal length (CRL), bicoronal dimension (BGCF) and nasal bone ossification, allows the detection of defects such as Down syndrome, Edwards syndrome or Patau syndrome. An abnormal PAPP-A test result is an indication for invasive prenatal testing,
Medical US study, photo: panthermedia
- triple test - can be ordered by a doctor when factors are diagnosed that increase the possibility of birth defects. The test is performed between the 14th and 20th week of pregnancy. After taking blood from the mother, the concentration of alpha-fetoprotein (AFP), total chorionic gonadotropin (hCG) and free oestriol (fE3) are determined. Doctors recommend the triple test for women who become pregnant after the age of 35 and in situations where there is a family diagnosis of birth defects,
- the NIFTY test - is used to detect certain genetic defects in the baby (Down syndrome, Edwards syndrome, Patau syndrome), but also to determine the risk of miscarriage or stillbirth. For the test, approx. 10 ml of the mother's venous blood is taken for the test. The test is performed between the 12th and 24th week of pregnancy. The waiting time for the results is approximately 3 weeks. This test, unlike biochemical tests, involves isolating the baby's DNA from the mother's blood and then analysing this material. Biochemical tests determine biochemical markers in the mother's blood. The accuracy of the NIFTY test is estimated to be around 99%,
- hTN MRIRNY test - in addition to determining whether the baby has any of the genetic diseases, it allows the sex of the baby to be determined and possible sex hormone disorders to be detected. The test makes it possible to determine the sex of the child with an accuracy of up to 99%. The HTN MRIRNY test should be performed at the earliest in the 10th week of pregnancy. It can be performed by women with both single and twin pregnancies, including after in vitro fertilisation. The test does not determine the risk of mosaicism or the occurrence of translocations.
Where to carry out the prenatal test?
Before you choose where to have your prenatal test, consult your GP. In the case of the PAPP-A test combined with Medical US, it is advisable to consult a doctor who is FMI-certified by The Fetal Medicine Foundation.