Ultrasonography
Antepartum Testing
Prenatal Screening and Diagnostic Testing
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Genetic Counseling
Ethnicity Based Carrier Screening
Pregnancy Exposures
Consultations with Specialists
Diabetes Management
Cervical Incompetence Management
 
 
 

Ethnicity Based Carrier Screening

 

Some genetic conditions are known to occur with an increased frequency in certain ethnic groups. Each individual has two copies of all of their genes (one from their mother and the other from their father). The conditions for which ethnicity based screening is typically offered are inherited in a recessive manner which means that both copies of a particular gene have a change (mutation). A person is considered a ‘carrier’ when they have a mutation in only one copy of the gene and therefore do not have any medical symptoms. When both parents are carriers of the same recessive condition, there is a 1 in 4 (25%) chance that the pregnancy will inherit the mutation from both parents and have therefore the disease.

 

Ethnic Group

Disease

Carrier Frequency in the Particular Ethnic Group

Ashkenazi Jewish

 

Canavan Disease

1/40  (2.5%)

Tay Sachs Disease

1/30  (3%)

Cystic Fibrosis

1/25 (4%)

Familial Dysautonomia

1/30 (3%)

African American / West Africa

Sickle Cell Anemia

1/6 – 1/12  (8-16%)

Other Hemoglobinopathies

1/30 – 1/75 (up to 3%)

European Caucasian

Cystic Fibrosis

1/25 (4%)

Mediterranean / South Asian

Beta Thalassemia

1/20 – 1/30  (3 - 5%)

SE Asian  (Loas,  Vietnam, Thailand)

Alpha Thalassemia

1/20  (5%)

Beta Thalassemia

1/30 (3%)




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