Indications and findings
A cytogenetic and karyotype analysis determines the number and structure of chromosomes. This testing is used in prenatal diagnostics in the case of suspicious ultrasound findings or triple test results, increased maternal age, patients with familial translocations, existing genetic findings of the parents and other indications.
The average processing time for a prenatal chromosome analysis is 13 days.
A rapid method in the prenatal diagnostics is a FISH rapid test for the detection of numerical chromosome aberrations (trisomy 21, 18, 13, monosomy X, triploidy) in uncultured cells within 5-24 hours. The microscopic diagnosis of all representable numerical and structural chromosomal changes is not possible with this method. Therefore the FISH test is only carried out in conjunction with a prenatal chromosome analysis.
The AFP level (alphafetoprotein) can be determined in each shipment of amniotic fluid as a function of the SSW (only 15 + 0 to 19 + 0 weeks! Please specify exact gestational age).
Prior to the investigation of genetic counseling should be offered.