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Your Body, Your Future:
A Guide to Women’s Health in
the Age of Genetics and Technology
Indications For Referral To A Genetic Counselor
- Family history of children with multiple malformations
- Individual or family history of mental retardation/developmental delays
- Known or suspected metabolic disorder: neonatal deaths, failure to thrive, organomegaly, loss of developmental milestones
- Common birth defects, such as cleft lip/palate, neural tube defects, clubfoot, congenital heart disease
- Child with unusual appearance, especially accompanied by failure to thrive or sub-optimal psychomotor development
- Primary amenorrhea, aspermia, infertility or abnormal sexual development
- Known familial chromosomal abnormality
- Families with known hereditary conditions and/or questions about recurrence risks
- History of any disease "running in the family," especially hearing loss, blindness, neurodegenerative disorders, short stature, premature heart disease, immune deficiency, abnormalities of the hair, skin or bones, or cancer
- Recurrent pregnancy loss/stillbirth
- Couples in which the partners are related to one another by birth
- Couples with an ethnic background suggesting an increased risk for a specific disorder, such as Jewish for Tay-Sachs, Black/Mediterranean/Asian for Hemoglobinopathy/Thalassemia
- Pregnant women, or women planning pregnancy, exposed to potential teratogens - radiation, chemicals, certain medications (anticonvulsants, anticoagulants, antimetabolites, thyroid antagonists, steroids), recreational drugs including alcohol, certain viral agents, very high fevers
- Women considering pregnancy who have a hereditary disorder (PKU, homocystinuria)
- Abnormal multiple marker screen/MSAFP
- 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
- Familial cancer disorders
This page was updated on 09/23/04
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