Clinical Genetic Services

Indicators for Genetic Service Referral

Individual with (or family history of) single or multiple structural malformations/birth defects, such as cleft lip/palate, neural tube defects, clubfoot, congenital heart disease.

Mental retardation, learning disability, behavior disorder.

Known or suspected metabolic disorder (e.g., cases of neonatal death, failure to thrive, organomegaly, loss of developmental milestones).

Individual with unusual appearance, especially accompanied by failure to thrive or suboptimal psychomotor development.

Primary amenorrhea, aspermia, infertility or abnormal sexual development.

Known chromosomal abnormality.

Individuals with an ethnic background suggesting a higher risk for an identifiable genetic disorder (Jewish for Tay-Sachs, European ancestry for cystic fibrosis, African or Hispanic ancestry for sickle hemoglobinopathy or Mediterranean/Asian/Hispanic for thalassemia).

Individuals who have been found to be carriers or affected with such disorders.

Families with known or suspected hereditary conditions and/or questions about recurrence risks.

Personal or family history of stroke, early coronary artery disease or thrombosis.

History of any disease "running in the family", especially hearing loss, blindness, neurodegenerative disorders, short stature, premature heart disease, (non-HIV) immune deficiency, abnormalities of the hair, skin or bones, diabetes, cancer, hypertension, birthmarks, tumors, seizures.

Family history of pregnancy losses, stillbirths or neonatal deaths.

Couples who have had recurrent pregnancy losses (2 or more miscarriages, stillbirths or neonatal deaths).

Consanguineous couples (including distant cousins).

Women of "advanced age" pregnant or planning a pregnancy (females 35 years old or over at time of delivery; females 30 or over who are carrying twins).

Women at risk for babies with birth defects based on screening tests, such as biochemical blood analytes and ultrasound exams.

Pregnant women or women planning pregnancy, exposed to possible teratogens: radiation, chemicals, certain medications (anti-convulsants, anticoagulants, anti-metabolites, thyroid antagonists, steroids), recreational drugs (including alcohol), certain viruses, and very high fevers.

Women considering pregnancy who have a hereditary disorder (e.g., PKU, Marfan syndrome, homocystinuria).

Couples with questions about prenatal diagnosis for any disorder.

Patients in search of a diagnosis for some problem, with lack of success after a reasonable number of other consultations.