Non-invasive prenatal screening for Down’s syndrome

This is a new non-invasive, reliable prenatal test with no risk to the fetus and is performed via a simple blood test for the pregnant mother. With a high level of reliability, it can determine whether or not an unborn baby has Down’s, Edward’s or Patau syndrome.

This test is based on analysis of a very small quantity of fetal DNA which flow from the placenta into the mother’s blood throughout pregnancy. Thanks to major technological advances in molecular genetics and bioinformatic analysis, it is now possible to analyse fetal DNA and determine the number of copies of each chromosome, namely 13, 18 and 21.


In practical terms:

The doctor who is monitoring your pregnancy will prescribe screening for Down’s, Edward’s and Patau syndrome via analysis of the fetal DNA circulating in your blood.

Test requirements:

  • Visit your local laboratory with the prescription from your doctor, proof that you have been informed about the test and your signed informed consent. Remember to ask the doctor performing your ultrasound for the nuchal translucency measurement
  • Your blood will be collected by the laboratory
  • You will receive your results from your doctor

Important

The performance of this test, irrespective of its outcome, is in no way a substitute for ordinary ultrasound monitoring throughout pregnancy.
If you have any questions, please do not hesitate to ask your doctor for advice, or your biologist on (+352) 488 288-1 or by e-mail at info@ketterthill.lu.


Frequently asked questions

  • Any pregnant woman, provided her ultrasounds show no warning signs or a thick neck. Under no circumstances can it be performed without a medical prescription or without your consent.
  • From the tenth week of amenorrhoea (confirmed by ultrasound) and throughout pregnancy.
  • Results will be available within 10 working days from when the laboratory receives your blood sample.
  • Results will show whether or not your fetus has Down’s, Edward’s or Patau syndrome and are sent exclusively to the doctor who prescribed the test. Your doctor will be the one to explain the meaning of your results and tell you about any additional exams which might be prescribed.
  • A negative result means that Down’s, Edward’s or Patau syndrome is extremely unlikely in your fetus.
    Your doctor will continue to monitor you, namely via ultrasounds, and will tell you if you need to do any additional exams.
  • A positive result indicates that your unborn baby most certainly has the syndrome in question.
    Your gynaecologist will confirm this result via amniocentesis in order to determine the karyotype of your fetus.
    This karyotype will provide a definitive diagnosis.

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