Karyotyping from cordocentesis

The reason for collection is the requirement for chromosomal testing of foetal cells or testing of individual genes to exclude developmental defects in the foetus. DNA can either be directly isolated from the samples taken or used for culture under laboratory conditions. By further processing of the resulting cultures, chromosomal testing of the foetus can be performed or foetal DNA can be isolated. 

Changes in the number or structure of chromosomes are associated with serious congenital defects, which in most cases cannot be treated after childbirth. The actual culture and evaluation of the preparation usually takes between 6–14 days, so the date of collection is important. It is necessary to allow sufficient time for possible cultivation, processing and reading of the sample.

previous foetal birth with chromosomal abnormality or congenital developmental defects, stillbirth or neonatal death, carrier of chromosomal rearrangement, repeated spontaneous abortions, occurrence of sex chromosome mosaic or aneuploidy in one parent, positive screening of maternal serum, maternal age over 35 years, pathological findings on foetal ultrasound, positive screening in the first trimester, other less common indications