Ultrasound, first-trimester screening or NIPT conspicuous?

 

If, after a non-invasive prenatal examination, there is a suspicion of an unusual development in the child, it must be examined using an invasive procedure.

With our prenatal cytogenetic analysis (chromosome analysis) from amniotic fluid, chorionic villi or umbilical cord blood, you can find out whether there is a numerical or structural chromosomal change in the fetus. The two biochemical markers AFP (alpha-fetoprotein) and AChE (acetylcholinesterase) from the amniotic fluid supernatant can indicate the presence of a neural tube defect.

Chorionic villus biopsy (CVS)

as of the 11th week of pregnancy

Result of direct preparation (preliminary result) after 1 to 2 days
Result of long-term cultivation after 8 to 10 days

This test can detect or rule out trisomy (e.g. Down's syndrome) or structural chromosomal abnormality (e.g. translocation). 

Amniotic fluid examination (amniocentesis)

as of the 14th week of pregnancy

Result after 8 to 10 days

The detection or exclusion of a trisomy or a structural chromosomal change is also possible with an amniotic fluid examination. In addition, the examination of the two parameters AFP and AChE provides information as to whether a closure defect, such as an open back (spina bifida), is present.
Our prenatal rapid test using QF-PCR can determine the number of chromosomes 13, 18 and 21 and the sex chromosomes of the unborn child within a few days. The test results must always be checked by evaluating the cell culture. Therefore, we offer this analysis only in combination with conventional chromosome analysis. 

Umbilical cord blood (chordozentesis)

as of the 20th week of pregnancy

Results after approx. 7 days.
This test also allows us to determine whether numerical or structural chromosomal changes are present in the fetus. In order to exclude contamination with maternal cells, an EDTA umbilical cord blood sample is required. 


Further prenatal analyses:

 

Prenatal array CGH

Results after approx. 10 days (after harvesting the cells from cell culture).
Array CGH is used to examine the entire fetal genome for genetic imbalances. 

For example
  • Conspicuous ultrasound and exclusion of trisomy 21, 13, 18 and Turner syndrome by a FISH rapid test
  • Precision of chromosome analysis: Detailed breakpoint definition, characterization of the material in cytogenetically recognizable gains and losses  (incl. marker chromosomes).
  • Clarification of newly formed apparently balanced chromosomal structural changes.

Prenatal DNA analysis

If there is a risk of a hereditary disease, for example a metabolic or muscle disease, or if other investigations indicate certain genetic changes, a DNA analysis of the child's cells can clarify whether the unborn child is affected.

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