() Cohort III-2 4,736 Aim: to report the clinical experience and 99.9% (4732/4736) of the participants with a performance of massively parallel median maternal age of 35 years old sequencing-based cDNA as a screening received reports, and 1.3% (63/4732) were method in detecting trisomy 21, 18, and 13 classified as test positive, including 36 T21, 19 in a mixed-risk population in Thailand. T18, and 8 T13; 82.5% (52/63) took prenatal diagnosis, and 11.5% (6/52) false-positive Setting: Thailand cases were observed. Population: high-risk pregnancies either with There were 31 T21, 16 T18, 5 T13, and 4669 advanced maternal age or positive serum euploid cases. We observed one FP of T21, biochemical tests (n=2,840) and low-risk four FPs of T18 and one FP of T13 in our test, pregnancies without conventional giving the sensitivities of 100.00%, 100.00%, indications (n=1,889). and 100.00% and specificities of 99.98%, Methods: In a 30-month period, 121 medical 99.92%, and 99.98% for detecting T21, T18, centers in Thailand offered cfDNA as clinical and T13, respectively. The PPV for T21, T18, screening tests for fetal T21, T18, and T13 in and T13 were 96.77% (n=31; 83.3 to 99.9%), the mixed-risk population. All cfDNA-positive 75.00% (n=16; 47.6 to 92.7%), and 80.00% cases were recommended to undergo (n=5; 28.4 to 99.5%), respectively. The overall invasive prenatal diagnosis. specificity for detecting these three Outcomes: Detection of trisomies 21, 18 and chromosomal anomalies combined was 13 99.87%, and the overall sensitivity and PPV were 100.00% and 88.46%, respectively. The incidence of T21, T18, and T13 were 0.64%, 0.25%, and 0.08%, respectively.
() Cohort III-2 4,736 Aim: to report the clinical experience and performance of massively parallel sequencing-based cDNA as a screening method in detecting trisomy 21, 18, and 13 in a mixed-risk population in Thailand. Setting: Thailand Population: high-risk pregnancies either with advanced maternal age or positive serum biochemical tests (n=2,840) and low-risk pregnancies without conventional indications (n=1,889). Methods: In a 30-month period, 121 medical centers in Thailand offered cfDNA as clinical screening tests for fetal T21, T18, and T13 in the mixed-risk population. All cfDNA-positive cases were recommended to undergo invasive prenatal diagnosis. Outcomes: Detection of trisomies 21, 18 and 13 99.9% (4732/4736) of the participants with a median maternal age of 35 years old received reports, and 1.3% (63/4732) were classified as test positive, including 36 T21, 19 T18, and 8 T13; 82.5% (52/63) took prenatal diagnosis, and 11.5% (6/52) false-positive cases were observed. There were 31 T21, 16 T18, 5 T13, and 4669 euploid cases. We observed one FP of T21, four FPs of T18 and one FP of T13 in our test, giving the sensitivities of 100.00%, 100.00%, and 100.00% and specificities of 99.98%, 99.92%, and 99.98% for detecting T21, T18, and T13, respectively. The PPV for T21, T18, and T13 were 96.77% (n=31; 83.3 to 99.9%), 75.00% (n=16; 47.6 to 92.7%), and 80.00% (n=5; 28.4 to 99.5%), respectively. The overall specificity for detecting these three chromosomal anomalies combined was 99.87%, and the overall sensitivity and PPV were 100.00% and 88.46%, respectively. The incidence of T21, T18, and T13 were 0.64%, 0.25%, and 0.08%, respectively.
cfDNA%20testing%20evidence%20evaluation%2016May17.docx