First trimester screening
First trimester screening
First of all: The vast majority of babies are healthy! Nevertheless, all women - regardless of their age - run a small risk of their baby being affected by a mental or physical illness.
The most common cause of mental disability is Down syndrome, a chromosomal disorder also known as trisomy 21. This disorder is not inherited, but occurs by chance. The risk of having a baby affected by Down syndrome increases with the age of the mother.
The only way to rule out a chromosomal disorder such as Down's syndrome with certainty is an invasive test, but this is not entirely harmless. You can find out more about these tests a few clicks further on.
However, many pregnant women do not want to make the decision for or against such invasive diagnostics solely on the basis of their age, but make it dependent on their individual risk.
First trimester screening is used to calculate the individual risk of Down's syndrome, to recognise serious malformations and pregnancy risks, and thus provides a basis for counselling for the entire course of the pregnancy.
Intensive research in recent years has shown that the majority of unborn babies affected by a chromosomal disorder show typical abnormalities in the early stages of pregnancy - either on ultrasound examination or in a maternal blood sample.
ULTRASOUND EXAMINATION
Between the 12th and 14th week of pregnancy, a small accumulation of fluid can be detected under the skin of the neck of every unborn child. The precise measurement of this fluid accumulation is called nuchal translucency measurement. An increased nuchal translucency increases the risk that the unborn child could be affected by a chromosomal disorder. In addition to nuchal translucency, other ultrasound findings can change the risk value of a chromosomal disorder.
To avoid any misunderstandings: The examination findings are only used to determine the risk and do not in themselves have any disease value, i.e. unborn babies with increased nuchal translucency and therefore an increased risk can of course also be completely healthy!
Blood test
Two values can be analysed from the mother's blood: the pregnancy hormone ß HCG and the protein PAPP-A produced by the placenta. The concentrations of these two substances - in addition to the ultrasound examination - determine the risk of a chromosomal disorder in the unborn child.
The blood test can also take place after the ultrasound scan, but the optimum time for the blood sample to be taken is earlier (10th to 11th week of pregnancy). In our practice, we calculate the risks together with the patients, questions and concerns regarding the examination can then be discussed.
Under optimal conditions, the combination of the three test components (maternal age, ultrasound examination, blood test) can detect over 90% of unborn babies with Down's syndrome, with the ultrasound examination alone over 80%.
Most examinations - even in older expectant mothers - reveal no abnormalities or low risks, which can help to reduce anxiety and ensure a carefree pregnancy. And that is worth a lot.
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