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Prenatal FISH - Aneuploidy screening

General Information

The FISH-analysis using specific DNA-probes for the chromosomes which are amongst others responsible for the majority of trisomies delivers a result for the number of chromosomes 13, 18, 21, X and Y within 24 hours.

The risk of having a child with a numeral chromosomal aberrations (aneuploidy) increases with advanced maternal age. The screening leads to a noticeable disburden of the mother.

The number of all other chromosomes and the structural analysis is performed after cultivating the fetal cells.

 

The aneuploidy screening is only performed in combination with the karyotying of metaphase chromosomes and is available from gestational week 15.

 

Diagnostic

 

Indication

Pathological ultrasound
Pathological first-trimester-screening
Previous pregnancies with trisomies
Robertsonian translocation in one of the parents
Down syndrome in the family

Method

FISH-analysis using specific probes for chromosomes 13, 18, 21, X and Y

Sample Requirement

3 ml of amniotic fluid

Duration

1 day
For probes arriving Friday results will be available the following monday



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