Risk that both partners carry a CFTR mutation and the risk they will have a child with CF based on their test results and race/ethnicity

Carrier frequency in population and proportion of CF identified by carrier screening (23 mutation panel)	Results of partner screening			Risk that both parents are carriers 1 in	Risk of child with CF 1 in
	Not tested	Negative	Positive	Risk that both parents are carriers 1 in	Risk of child with CF 1 in
Ashkenazi Jewish people (1/23.8, 94.04 percent)	XX			570	2270
		XX		147,000	490,000
			XX	1	4
	X	X		9140	36,600
	X		X	23.8	95.2
		X	X	384	1540
Non-Hispanic White people (1/25.0, 88.29 percent)	XX			625	2500
		XX		42,400	170,000
			XX	1	4
	X	X		5150	20,600
	X		X	25	100
		X	X	206	824
African American people (1/61.4, 64.46 percent)	XX			3770	15,100
		XX		29,200	117,000
			XX	1	4
	X	X		10,500	42,000
	X		X	61.4	246
		X	X	171	684
White Hispanic people (1/58.2, 71.72 percent)	XX			3380	13,500
		XX		41,200	165,000
			XX	1	4
	X	X		11,800	47,200
	X		X	58.1	232
		X	X	203	812
Asian American people (1/93.7, 48.93 percent)	XX			8780	35,100
		XX		33,500	134,000
			XX	1	4
	X	X		17,100	68,600
	X		X	93.7	375
		X	X	183	732

This table is intended for use in cystic fibrosis screening of reproductive couples who have no family history of cystic fibrosis. For individuals with a family history of cystic fibrosis, the calculations would be different and would be based upon pedigree information.

CFTR: cystic fibrosis conductance transmembrane regulator; CF: cystic fibrosis; X: the result for one of the partners.

Reproduced with permission from: American College of Medical Genetics. Technical Standards and Guidelines for CFTR Mutation Testing. 2006 Edition.

Graphic 55196 Version 8.0

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Risk that both partners carry a CFTR mutation and the risk they will have a child with CF based on their test results and race/ethnicity