TABLE 1.

Summary of case characteristics and prenatal diagnosis for the validation group (group 1) containing pregnancy cases tested for Cystic fibrosis (CF) in the clinical setting

Case‐ID	Clinical indication	CFTR variant	Gestational age at blood sampling	Number of candidate cells for WGA and STR analysis	Number of fetal cells for cell‐based NIPT for CFTR variants	Cell‐based NIPT result for CFTR variants	Concordance between cell‐based NIPT and CVS results
1	Prior CF screen negative	None	13 + 2	5	4	Normal	Yes
2	Mother is a known carrier	F508del	12 + 4	6	5	F508del heterozygote	NA
3	One parent is a known carrier	F508del	11 + 4	8	1	Normal	Yes
4	Both parents are known carriers	F508del	11 + 3	11	4	F508del heterozygote	Yes
5	One parent is a known carrier	F508del	13 + 4	10	4	Normal	Yes
6	Both parents are known carriers	F508del, R334W	10 + 4	10	5	R334W heterozygote	Yes
7	Both parents are known carriers	F508del	9 + 5	10	1	Normal	Yes
8	Both parents are known carriers, child with CF	F508del	10 + 4	17	0	No result	‐