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Individuals and
families who are concerned about a genetic disease may benefit from a
genetic consultation whether or not testing is available for that condition.
Many people are seeking information and coping strategies as much as test
results.
Reasons for referral for a genetics consultation are often grouped by age:
Preconception/Prenatal, Pediatric, and Adult. Common reasons for referral
are given below, but these lists are not exhaustive.
Consult your local genetics clinic to determine whether a genetics referral
is appropriate.
Common reasons for a preconception/prenatal genetics consultation:
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Mother will be
35 years or older at delivery
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Abnormal results
from a triple marker screen or fetal ultrasound
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Personal or
family history of a known or suspected genetic disorder, birth defect, or
chromosomal abnormality
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Exposure to a
known or suspected teratogen
Mother has a medical condition known or suspected to affect fetal
development
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Two or more
pregnancy losses
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Close biological
relationship of parents
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Ethnic
predisposition to certain genetic disorders
Common
reasons for a pediatric genetics consultation:
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Abnormal newborn
screening results
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One or more
major malformations in any organ system
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Abnormalities in
growth
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Mental
retardation or developmental delay
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Blindness or
deafness
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Presence of a
known or suspected genetic disorder or chromosomal abnormality
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Family history
of a known or suspected genetic disorder, birth defect, or chromosomal
abnormality
Common
reasons for an adolescent/adult genetics consultation:
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Mental
retardation
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Personal or
family history of hereditary cancers
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Personal or
family history of a known or suspected genetic condition or chromosomal
abnormality
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Blindness or
deafness
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Development of a
degenerative disease
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Risk assessment
for pregnancy planning
Reprinted
with permission from GeneTests.
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The impact of a
disability can always be lessened to some degree by early intervention. |
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