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Pregnancy: What You Need To Know About Down Syndrome Blood Tests


In the future, health insurance companies should pay for the blood test for trisomia during pregnancy, at least in individual cases. Which risks the test entails - and when it can be useful.

How thick is the neck fold, how much blood flows through the heart, will it be a boy or a girl? Already before the birth expectant parents know a lot about their child. The screening tests pose difficult questions: do we want to know if our child with a disability is born? And if so, can we imagine getting it?

In the future, a blood test for trisomia during pregnancy may also be a precautionary measure. The Joint Federal Committee (G-BA), in which funds, doctors and clinics decide together, which therapies the health insurance companies should pay and which not, decided on Thursday that the test "in justified individual cases" is paid by the health insurance companies.

Just a few days before the official decision, first information from the committee had penetrated.

What parents need to know now:

What can prenatal blood tests do?

The blood of a pregnant woman also circulates genetic information of the unborn child. Special blood tests can track them down to predict the likelihood that a child with a disability will be born. The accuracy is according to the manufacturer at 99 percent. Specifically, this concerns:

  • Trisomy 21 (Down syndrome): In those affected, the 21st chromosome or parts of it occurs three times instead of just twice. This manifests itself in various physical and mental impairments, which can vary greatly from person to person.
  • Trisomy 18 (Edwards syndrome): Similar to trisomy 21, trisomy 18 has one chromosome in triplicate, but the 18th, not 21. Unlike trisomy 21, children are often unviable. So far, only very few cases are documented in which the affected reached adolescence.
  • Trisomy 13 (Pätau syndrome): A trisomy 13 also leads to organic malformations. Most children die before birth or a few days later.
  • Maldistribution of the sex chromosomes X and Y: Women usually have two X chromosomes and men one X and one Y chromosome. However, this distribution can cause anomalies. For example, in Turner syndrome, women have only one functional X chromosome. Also possible are three X chromosomes (Triple X), one X and two Y chromosomes (XYY syndrome) or two X and one Y chromosome (Klinefelter).
  • DiGeorge's syndrome (22q11.2 microdeletion): The chromosomal defect occurs at an early stage of embryonic development and can express itself in very different ways. For example, some children develop delays or mental retardation, and many have heart defects. The degree of impairment varies greatly.

Who can do the tests?

In general, all pregnant women can take the test from the tenth week of pregnancy, even after an artificial insemination or during a twin pregnancy. The blood collection usually takes the gynecologist or gynecologist. If not, patients can be referred to a specialist or a specialized center for prenatal diagnosis. The sample is then evaluated in a laboratory.

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When do the funds pay the test so far?

The prena test for trisomy 21 costs € 129, according to the manufacturer's recommended retail price. If the unborn is to be checked for all anomalies, the cost is 299 euros. At launch, parents had to pay more than a thousand euros. Meanwhile, there are other such blood tests, such as Harmony or Panorama.

In some cases, private and public health insurance already take the cost of the test. For this, the attending physician must justify in writing why the test makes sense for medical reasons. Reasons for this may be, for example, if the ultrasound already suspects that the child may have a trisomy.

In the video: "We were told not to have the child"



How did the Federal Committee decide?

In the future, the blood test will in some cases become a cash benefit, "if the question arises as to whether a fetal trisomy could be present and this represents an unreasonable burden on the pregnant woman, the aim being to avoid her in this situation invasive examination of a miscarriage, "the G-BA informs. If there is already a finding that requires more invasive examination, amniocentesis, or chorionic villus sampling, the fund will not cover the cost of the blood test.

The G-BA had asked politicians to clarify fundamental ethical issues before the decision. For example, from which week of pregnancy the test should be paid.

What speaks against a cost assumption?

If blood tests become free, the number of abortions threatens to increase, critics fear. If people with Down syndrome were increasingly perceived as avoidable, it could put pressure on parents to opt for an abortion. In Denmark, only half as many children with Down's syndrome were born after the blood test became a cash benefit.

Source: spiegel

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