For most parents, only one thing matters during pregnancy: they want their baby to be born healthy. Thanks to modern medicine, a wide variety of examinations can be carried out as part of prenatal diagnostics. Numerous diseases and chromosomal disorders can be diagnosed in the process.
In this article, you will learn how a blood test is performed during pregnancy and which genetic abnormalities it can indicate. We also summarize who bears the costs for the examination and what happens after an abnormal finding.
What is the NIPT blood test?
A blood test in pregnancy is often abbreviated as NIPT. This is a non-invasive prenatal test. In this case, "non-invasive" means that there is no intervention in the mother's body. Instead, blood is simply drawn from her, so that no physical injuries occur.
DNA fragments belonging to the unborn baby are then extracted from the blood sample taken. Based on this sample and the fetal DNA, the risk of genetic abnormalities can be determined.
There are now various blood tests available during pregnancy. For example, the pregnant woman's blood can be examined for signs of trisomies. On the other hand, deviations in sex chromosomes, various single-gene disorders, and other genetic deviations can also be detected using the blood test.
Which genetic abnormalities can the prenatal test determine?
Parents who decide to have the NIPT want to be sure that their baby will be born healthy. The test can determine the probability of numerous genetic malformations. These include, among others:
Trisomies:
In many cases, an NIPT is performed to rule out trisomy in the unborn child. The test can determine the probability that the baby has trisomy 13, trisomy 18, or trisomy 21.
Turner syndrome:
The blood test in pregnancy can also reflect the probability of sex chromosome disorders. These include Turner syndrome or Klinefelter syndrome.
DiGeorge syndrome:
Furthermore, an NIPT can also determine the risk of genetic deviations on other chromosomes, such as in DiGeorge syndrome. This also includes the probability of the presence of too few or additional chromosomes (aneuploidies).
Cystic fibrosis:
The risk for various single-gene disorders can also be determined using a blood test during pregnancy. These are deviations in one or more genes. One disease that can result from this is cystic fibrosis, for example.
After the blood sample has been taken, the maternal blood can be examined in the laboratory for a wide variety of genetic abnormalities. As a rule, such a test looks for a specific abnormality that is considered particularly likely due to an initial suspicion or a family history.
I am pregnant: Should I have the NIPT performed?
Whether an NIPT is performed is the free decision of a pregnant woman. It is not a standard screening examination: a blood test in pregnancy is part of prenatal diagnostics and is therefore not an examination performed on every pregnant woman.
Such a blood test is often advised after an initial suspicion. This is the case, for example, if the ultrasound was abnormal or if there are already children in the family with trisomy or another chromosomal disorder. In this case, the blood test can be performed on medical advice.
Pregnant women should know in advance that the test will not provide a diagnosis. It only indicates the probability of trisomy or another disease. Therefore, invasive examinations must often be carried out afterwards to obtain an accurate test result.
Furthermore, the probability resulting from the blood test is not reliable for every woman. The age of the expectant mother plays a decisive role – especially in the diagnosis of trisomies. In older women, the NIPT is significantly more accurate than in younger women.
In addition, the blood test can only determine the risk of genetic malformations. However, these are comparatively rare and by far not the most common cause of disabilities in newborns. Furthermore, not all detected genetic deviations mean major limitations for the children.
Do statutory health insurance companies cover the costs of the test during pregnancy?
Whether the costs for the NIPT are covered depends on various factors. Statutory health insurance companies bear the costs if the examination is medically recommended. This is the case, for example, if an indication of trisomy was found in a previous examination.
If there is no medical indication for the blood test, the costs are not covered. If expectant parents want to have the risk for trisomy 13, 18, and 21 determined without an initial suspicion, they must bear the costs themselves. These usually amount to 150 to 200 euros.
The NIPT to determine the risk for other genetic deviations is usually not covered by statutory health insurance companies. The costs for this are between 50 and 150 euros.
Those with private health insurance should find out about cost coverage in advance.
What happens after an abnormal blood test for trisomies?
If an NIPT has resulted in a suspicion of trisomy or another genetic abnormality, further tests and procedures are usually necessary.
This could be, for example, a cordocentesis.
However, an amniocentesis is performed much more frequently.
Another examination is chorionic villus sampling.
If there is an initial suspicion of a disease in your baby, your doctor will tell you which examination is advisable for an accurate determination.
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Conclusion: Blood test in pregnancy can provide initial insights
A blood test in pregnancy has various advantages for expectant parents. The examination is associated with minimal risk and can be easily performed by a gynecologist.
Whether you, as expectant parents, have such a test performed is up to you.
