The term antenatal diagnostic testing refers to examinations on the unborn child in the mother's womb and the early detection of congenital defects and other diseases. This includes, in particular, the fine diagnostic testing of the ultrasound scan in the first and second trimester.
But the antenatal diagnostic testing also includes examinations of the mother’s blood such as, for example, the Triple Test and in combination with the ultrasound scan as the First-Trimester Screening Test, as well as tests to determine the alpha-fetoprotein AFP (recommended only if there is the risk that the child may have spinal malformations).
New methods for measuring the DNA in the mother’s blood have been introduced relatively recently. We use this measurement to assess whether the unborn child might or might not be affected by a genetic deformity such as free Trisomy 21 (Down syndrome), Trisomy 18 or Trisomy 13. There is no complete genetic analysis! Other, even rarer forms of Down syndrome, physical abnormalities and foetal syndromes are not covered in these tests.
Some of the tests are invasive, i.e. antenatal diagnostic examinations carried out by means of punctures: puncture of the placenta (chorionic villus sampling, CVS), amniotic fluid puncture (amniocentesis, AC) and the puncture of the umbilical cord. These methods are the only way in which doctors can directly retrieve the tissue of the child and as a result their complete genome sequence for further investigation.
Examinations on the unborn child