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. 2022 Dec 8;43(1):3–13. doi: 10.1002/pd.6276

FIGURE 2.

FIGURE 2

CF test results for maternal DNA and trophoblast WGA‐DNA pools for case 4 and case 6. The fragment length analysis results to the left show the variant (mutant, M) alleles represented by blue peaks and the normal (wildtype) F508del allele represented by a green peak. The fragment length analysis results to the right show the normal alleles and detection of a green peak indicates the heterozygote status of the individual, while the absence of the green peak indicates the homozygote status of the individual. Peaks 10 and 12 represent F508del, which present as split peaks separated by 3 bp if both a normal allele and a variant allele are present. (A) In case 4, both the pregnant woman and the fetus are heterozygote for F508del indicated by the F508del M and WT alleles, as well as 10 and 12 split peaks in the fragment length analysis result to the right. (B) In case 6, the pregnant woman is a heterozygote carrier of F508del. The fetus has inherited the paternal R334W variant allele and the normal F508del allele, indicating that the fetus is an unaffected carrier of Cystic fibrosis (CF). Abbreviations: CF, cystic fibrosis; M, mutant, WT, wildtype; WGA‐DNA, whole genome amplified DNA.