While there are no screening guidelines you can use to detect
all genetic disorders, the following is a list of some of the
reasons for referral. If you are working with a family and are
not sure whether a referral is appropriate, call the genetics
center in your area.
PRECONCEPTION
1. A positive family history of a genetic disorder (e.g., fragile X syndrome, muscular dystrophy, cystic fibrosis) and concern about recurrence
2. Members of a high-risk ethnic group (African Americans, Asians, Ashkenazi Jews)
3. Infertility or sterility problems
4. Exposure to potential teratogenic or mutagenic agents
5. Maternal health (e.g., diabetes, PKU, epilepsy)
6. Consanguineous marriage
7. Anxieties over childbearing
8. Two or more miscarriages or pregnancy losses
9. A previous stillborn child
10. A previous child with a genetic disorder or birth defect (e.g.,
neural tube defect, Down syndrome, PKU)
PRENATAL
1. Women who will be 35 years old or older at delivery
2. A woman and/or her partner who carries a gene coding for a genetic disorder
3. A woman or her partner who carries a chromosome rearrangement or abnormality
4. Couples with a family history of a neural tube defect
5. Couples with a previous child born with multiple congenital anomalies or a chromosome abnormality
6. Women with an abnormal level of maternal serum alpha fetoprotein (AFP), human chorionic gonadotropin (hCG) or estriol (uE3)
7. Women exposed to an infectious disease, radiation, drugs or
other environmental agents during pregnancy
INFANTS AND CHILDREN
1. A history of intrauterine growth retardation or failure to thrive
2. Abnormal growth patterns (short stature, obesity, excessive growth)
3. Ambiguous or abnormal genitalia; early onset of puberty
4. Microcephaly, macrocephaly or craniosynostosis
5. Psychomotor delay or mental retardation
6. Hypotonia, hypertonia
7. A parent, sibling or other relative with similar problems as the patient
8. Abnormal or unusual facial features
9. Abnormal body and limb proportions, asymmetry between right and left or between paired structures
10. Major or minor congenital anomalies
11. Metabolic disorder
12. Muscular weakness
13. Bleeding tendency
14. Blindness or deafness
15. A significant regression in developmental progress
16. An unusual body odor
17. Excessive or unexplained vomiting
18. Unusual behaviors, especially when associated with minor malformations
(hand biting, hand flapping, autistic symptoms, abnormal sleep
patterns, etc.)
ADOLESCENTS AND ADULTS
1. Abnormal sexual maturation
2. Amenorrhea (failure to menstruate), delayed puberty
3. Growth retardation
4. Excessive tall stature
5. A diagnosis of an adult onset genetic disease (e.g., Huntington disease, Marfan syndrome, myotonic dystrophy)
6. Family history of familial disorders (e.g., colon cancer, breast/ovarian cancer, familial hypercholesterolemia, psychiatric or behavioral disorders)
7. Members of high-risk groups who want to pursue carrier testing for single gene disorders or chromosome abnormalities (e.g., Tay-Sachs disease, Duchenne muscular dystrophy, hemophilia, sickle cell anemia)
8. Paternity testing
9. Questions about genetic diseases or birth defects in immediate
or extended family members
(Initial Table of Contents)