Table 1 Carrier screening recommendations based on patient ethnicity

Ethnicity	Recommended screening	Reference
All women	Cystic fibrosis	ACOG,¹⁴ ACMG¹¹
	Spinal muscular atrophy	ACOG,¹⁴ ACMG¹³
Southern European	Hb β-chain-related hemoglobinopathies	ACOG¹⁴
Hispanic	Hb β-chain-related hemoglobinopathies	ACOG¹⁴
African American	Hb β-chain-related hemoglobinopathies	ACOG¹⁴
South Asian	Hb β-chain-related hemoglobinopathies	ACOG¹⁴
East Asian	Hb β-chain-related hemoglobinopathies	ACOG¹⁴
Middle Eastern	Hb β-chain-related hemoglobinopathies	ACOG¹⁴
Southeast Asian	Hb β-chain-related hemoglobinopathies	ACOG¹⁴
Ashkenazi Jewish	Bloom syndrome	ACMG¹²
	Canavan disease	ACOG,¹⁴ ACMG¹²
	Familial dysautonomia	ACOG,¹⁴ ACMG¹²
	Fanconi anemia group C	ACMG¹²
	Gaucher disease	ACMG¹²
	Mucolipidosis IV	ACMG¹²
	Niemann–Pick type A	ACMG¹²
	Tay–Sachs disease	ACOG,¹⁴ ACMG¹²

ACMG American College of Medical Genetics and Genomics, ACOG American College of Obstetricians and Gynecologists.

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