Cytogenetic Testing

Chromosome analysis is recommended as a routine method to diagnose (consider or rule out) genetic contributions in cases of different conditions:

• Stillbirth and family history of neonatal deaths;
• Identification of the newborn’s sex in cases of abnormal genitalia growth- and development-related problems identified at an early age;
• Growth and physical development delay;
• Dysmorphic features;
• Multiple malformations;
• Short stature;
• Underdeveloped or ambiguous genitalia;
• Intellectual disability;
• Delayed sexual development.

Family History – if a patient’s first-degree relative has a chromosome abnormality, the patient must complete chromosome analysis;

Advanced Maternal Age Pregnancy – (in women after 30-35) is a risk factor contributing to chromosome abnormalities, which is why prenatal screening and, if necessary, diagnostic of possible chromosome abnormalities of the fetus must be completed.