Table 3 Clinical characteristics of carrier couples

From: Comparing ethnicity-based and expanded carrier screening methods at a single fertility center reveals significant differences in carrier rates and carrier couple rates

Couple

Disease

Ethnicity (female partner)

Ethnicity (male partner)

1

Hb β-chain-related hemoglobinopathy

African or African American

African or African American

2

Achromatopsiaa

South Asian

South Asian

3

GJB2-related DFNB1 nonsyndromic hearing loss and deafnessa

Northern European

Northern European

4

Hb β-chain-related hemoglobinopathy

African or African American

African or African American

5

α-1 antitrypsin deficiencya

Northern European

Unknown/Not Reported

6

Hb β-chain-related hemoglobinopathy

African or African American

African or African American

7

Cystic fibrosis

Mixed or Other Caucasian

Southern European

8

Gaucher disease

Ashkenazi Jewish

Ashkenazi Jewish

9

Familial Mediterranean fevera

Southern European

Ashkenazi Jewish

10

Pompe diseasea

Northern European

Mixed or Other Caucasian

11

Smith–Lemli–Opitz syndromea

Northern European

Ashkenazi Jewish

12

Pompe diseasea

Southern European

Unknown/Not Reported

13

Spinal muscular atrophy

Northern European

Mixed or Other Caucasian

14

Cystic fibrosis

Southeast Asian

Southeast Asian

15

Familial dysautonomia

Ashkenazi Jewish

Ashkenazi Jewish

  1. aIndicates these couples would have been missed by ethnic based screening.