1. Spinal Muscular Atrophy
*Limitations:
Carrier screening is not an all-inclusive test.
It looks for certain mutations in specific genes associated with specific conditions.
There is a residual risk to be a carrier for the conditions screened if the test returns with a low risk result.
Carrier Screening-Algorithm
Carrier screening is most effective for reproductive decision-making when offered in a pre-conception setting.
The conditions screened have an autosomal recessive or X-linked inheritance pattern.
Carrier Screening*
Offer to All
(via ACOG, ACMG guidelines)
Cystic Fibrosis
Spinal Muscular Atrophy
Fragile X syndrome
If the following is present:
Family history of intellectual disability inherited through female relatives
(X-linked pattern of inheritance)
Personal or family history of premature ovarian failure (<40 yrs)
Family history of later onset tremor/ataxia
(fragile X associated tremor and ataxia)
Ethnicity specific
(via ACMG, ACOG guidelines)
African/African American
Asian/Indian
Mediterranean
Middle Eastern
Hb electrophoresis for hemoglobinopathies
Caucasian/
Mixed European/
Biracial
Cystic fibrosis
AND
Spinal muscular atrophy
Ashkenazi Jewish
(Begin testing with Jewish partner)
Ashkenazi Jewish specific carrier panel
Main 4: Tay-Sachs, Canavan disease, Familial dysautonomia/, Cystic fibrosis
Optional: Bloom syndrome, Familial hyperinsulinism, Fanconi anemia, Gaucher disease, Glycogen storage disease type I, Joubert syndrome, Maple syrup urine disease, Mucolipidosis type IV, Niemann–Pick disease, Usher syndrome
French Canadian/ Cajun
Tay-Sachs disease
If patient desires expanded carrier screen OR
Family history of a genetic condition
Refer to genetic counseling for explanation and coordination of testing
If Testing is Positive:
Refer to genetic counseling for explanation of risk and potential testing of partner.
If Testing is Low Risk:
Discuss the residual risk for being a carrier of the conditions tested.