With today's technical possibilities various chromosomal aberrations can already be determined before birth.
In order to reduce the risk of the birth of a severely handicapped child, by means of amniocentesis or a chorionic villus biopsy during early pregnancy, the future mother can have the chromosome set of the embryo examined for chromosomal aberrations.
Sometimes, chromosomal aberrations can also be suspected in the 1st ultrasound examination based on a neck edema.
If there is evidence of an increased incidence of congenital abnormalities, monogenetic hereditary diseases or habitual abortions in the anamnesis, genetic counseling should by all means be offered.
Children with a deviating number or structure of chromosomes mostly have multiple abnormalities, often associated with mental retardation, or are in general unable to live. In the clinic a chromosome analysis is indicated when the following criteria are present in a patient and other pathogenic causes have been eliminated:
- Pre- and postnatal growth disorders
- Mental retardation
- Dysmorphism signs