Figure 1

Affected disease frequencies in four disease categories in caucasians (A,B,C). The individual contributions of four disease frequency categories were graphed according to affected total frequencies (percent) for 6 disease categories of surviving patients in increments of 1 in 25,000. Note the frequencies of the first three categories were graphed with a frequency up to .09% for autosomal recessive, (Additional file 3: Table S3C), three categories were graphed on different scales with a frequency up to.30% for whole chromosome aneuploidy (Additional file 3: Table S3E), and autosomal dominant with a frequency up to .75%. 1. Among all the diseases with a frequency of at least 1 in 100,000, 86% of at-risk couples for an affected fetus with an autosomal recessive disease would be identified by testing only diseases with a frequency up to 1 in 50,000; 2. 91% of at-risk couples for an affected fetus with an X-linked disease would be identified by testing only diseases with a frequency up to 1 in 50,000; 3. 92% of the patients affected with an auatosomal dominant would be identified by testing only diseases with a frequency up to 1 in 25,000; and 98% with frequencies up to 1 in 50,000; and 4. All frequent duplications and chromosome abnormalities listed have frequencies exceeding 1 in 25,000. Given that most of these autosomal recessive disease genes have ~50 unique mutations with no particularly common mutations, [29], decreasing initial screening to diseases with at least 1 in 50,000 will not only substantially reduce the workload but will miss <1 patient per disease category in 2.5 years by a laboratory randomly screening 5,000 normal patients per year. These thresholds may need to be revised because the abnormal genomic frequencies of affected patients would be substantially greater.