Clinical performance of cell-free fetal DNA testing for fetal aneuploidies and subchromosomal deletions/duplications in a cohort of 19,531 pregnancies
Objective: We aim to assess the clinical performance of cell-free fetal DNA (cffDNA) testing for detecting common fetal aneuploidies as well as subchromosomal deletions/duplications and explore the pregnancy decisions in screen-positive cases. Methods: A cohort of 19,531 pregnant women was offered c...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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Wolters Kluwer Health/LWW
2020-01-01
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| Series: | Reproductive and Developmental Medicine |
| Subjects: | |
| Online Access: | http://www.repdevmed.org/article.asp?issn=2096-2924;year=2020;volume=4;issue=3;spage=163;epage=168;aulast=Chen |
| _version_ | 1818117973970255872 |
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| author | Yi-Sheng Chen Yong-Qin Wu Ying Zhang Chun-Mei Ying |
| author_facet | Yi-Sheng Chen Yong-Qin Wu Ying Zhang Chun-Mei Ying |
| author_sort | Yi-Sheng Chen |
| collection | DOAJ |
| description | Objective: We aim to assess the clinical performance of cell-free fetal DNA (cffDNA) testing for detecting common fetal aneuploidies as well as subchromosomal deletions/duplications and explore the pregnancy decisions in screen-positive cases.
Methods: A cohort of 19,531 pregnant women was offered cffDNA testing for detection of trisomies 21, 18, and 13 (T21, T18, and T13); sex chromosome aneuploidies (SCAs); and subchromosomal deletions/duplications. Screen-positive cases were confirmed by karyotyping and single-nucleotide polymorphism array analysis.
Results: A total of 47 cases failed the test. The overall screen-positive rate of chromosomal abnormalities was 1.07% (208/19,484), including 57 cases with T21, 18 cases with T18, 7 cases with T13, 106 cases with SCAs, and 20 cases of subchromosomal deletions/duplications. Positive predictive values were 91.30% (42/46), 38.46% (5/13), 33.33% (2/6), 41.33% (31/75), and 27.78% (5/18), respectively. There was no significant difference in the screening of fetal chromosomal aneuploidies in the high-risk group compared with the low-risk group (P > 0.05). All of the pregnant women who had confirmed fetal T21, T18, or T13 terminated their pregnancies, except for a case of T13 mosaic, whereas 45.16% (14/31) of women with fetal SCAs continued their pregnancies. Furthermore, 17 pregnant women with positive screens for T21, T18, or T13 without a subsequent diagnosis chose to terminate their pregnancy, whereas 29 of 31 women with SCAs chose to continue their pregnancies.
Conclusions: CffDNA testing exhibited good screening accuracy for T21, T18, and T13 and also contributed to detecting fetal SCAs and subchromosomal deletions/duplications. Pregnant women with fetal 47, XXX or 47, XYY were more willing to terminate their pregnancy than those with fetal 45, X or 47, XXY. |
| first_indexed | 2024-12-11T04:46:55Z |
| format | Article |
| id | doaj.art-615d84fa6cb04f018f777e4a198ac2b0 |
| institution | Directory Open Access Journal |
| issn | 2096-2924 2589-8728 |
| language | English |
| last_indexed | 2024-12-11T04:46:55Z |
| publishDate | 2020-01-01 |
| publisher | Wolters Kluwer Health/LWW |
| record_format | Article |
| series | Reproductive and Developmental Medicine |
| spelling | doaj.art-615d84fa6cb04f018f777e4a198ac2b02022-12-22T01:20:30ZengWolters Kluwer Health/LWWReproductive and Developmental Medicine2096-29242589-87282020-01-0143163168Clinical performance of cell-free fetal DNA testing for fetal aneuploidies and subchromosomal deletions/duplications in a cohort of 19,531 pregnanciesYi-Sheng ChenYong-Qin WuYing ZhangChun-Mei YingObjective: We aim to assess the clinical performance of cell-free fetal DNA (cffDNA) testing for detecting common fetal aneuploidies as well as subchromosomal deletions/duplications and explore the pregnancy decisions in screen-positive cases. Methods: A cohort of 19,531 pregnant women was offered cffDNA testing for detection of trisomies 21, 18, and 13 (T21, T18, and T13); sex chromosome aneuploidies (SCAs); and subchromosomal deletions/duplications. Screen-positive cases were confirmed by karyotyping and single-nucleotide polymorphism array analysis. Results: A total of 47 cases failed the test. The overall screen-positive rate of chromosomal abnormalities was 1.07% (208/19,484), including 57 cases with T21, 18 cases with T18, 7 cases with T13, 106 cases with SCAs, and 20 cases of subchromosomal deletions/duplications. Positive predictive values were 91.30% (42/46), 38.46% (5/13), 33.33% (2/6), 41.33% (31/75), and 27.78% (5/18), respectively. There was no significant difference in the screening of fetal chromosomal aneuploidies in the high-risk group compared with the low-risk group (P > 0.05). All of the pregnant women who had confirmed fetal T21, T18, or T13 terminated their pregnancies, except for a case of T13 mosaic, whereas 45.16% (14/31) of women with fetal SCAs continued their pregnancies. Furthermore, 17 pregnant women with positive screens for T21, T18, or T13 without a subsequent diagnosis chose to terminate their pregnancy, whereas 29 of 31 women with SCAs chose to continue their pregnancies. Conclusions: CffDNA testing exhibited good screening accuracy for T21, T18, and T13 and also contributed to detecting fetal SCAs and subchromosomal deletions/duplications. Pregnant women with fetal 47, XXX or 47, XYY were more willing to terminate their pregnancy than those with fetal 45, X or 47, XXY.http://www.repdevmed.org/article.asp?issn=2096-2924;year=2020;volume=4;issue=3;spage=163;epage=168;aulast=Chencell-free dna prenatal testing; sex chromosome aneuploidies; subchromosomal deletions/duplications; trisomies |
| spellingShingle | Yi-Sheng Chen Yong-Qin Wu Ying Zhang Chun-Mei Ying Clinical performance of cell-free fetal DNA testing for fetal aneuploidies and subchromosomal deletions/duplications in a cohort of 19,531 pregnancies Reproductive and Developmental Medicine cell-free dna prenatal testing; sex chromosome aneuploidies; subchromosomal deletions/duplications; trisomies |
| title | Clinical performance of cell-free fetal DNA testing for fetal aneuploidies and subchromosomal deletions/duplications in a cohort of 19,531 pregnancies |
| title_full | Clinical performance of cell-free fetal DNA testing for fetal aneuploidies and subchromosomal deletions/duplications in a cohort of 19,531 pregnancies |
| title_fullStr | Clinical performance of cell-free fetal DNA testing for fetal aneuploidies and subchromosomal deletions/duplications in a cohort of 19,531 pregnancies |
| title_full_unstemmed | Clinical performance of cell-free fetal DNA testing for fetal aneuploidies and subchromosomal deletions/duplications in a cohort of 19,531 pregnancies |
| title_short | Clinical performance of cell-free fetal DNA testing for fetal aneuploidies and subchromosomal deletions/duplications in a cohort of 19,531 pregnancies |
| title_sort | clinical performance of cell free fetal dna testing for fetal aneuploidies and subchromosomal deletions duplications in a cohort of 19 531 pregnancies |
| topic | cell-free dna prenatal testing; sex chromosome aneuploidies; subchromosomal deletions/duplications; trisomies |
| url | http://www.repdevmed.org/article.asp?issn=2096-2924;year=2020;volume=4;issue=3;spage=163;epage=168;aulast=Chen |
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