Single Nucleotide Polymorphism-Based Analysis of Cell-Free Fetal DNA in 3000 Cases from Germany and Austria
Background & Patient: Data from 3 008 patients, who underwent single-nucleotide-polymorphism (SNP)-based noninvasive prenatal testing (NIPT) are presented. Method: The PanoramaTM test (Natera, San Carlos, CA) was used to analyze cell-free fetal DNA from maternal blood for trisomies 21, 18, and...
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| Format: | Article |
| Language: | English |
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Georg Thieme Verlag KG
2015-06-01
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| Series: | Ultrasound International Open |
| Subjects: | |
| Online Access: | http://www.thieme-connect.de/DOI/DOI?10.1055/s-0035-1555765 |
| _version_ | 1818407341025918976 |
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| author | B. Eiben M. Krapp H. Borth N. Kutur P. Kreiselmaier R. Glaubitz J. Deutinger E. Merz |
| author_facet | B. Eiben M. Krapp H. Borth N. Kutur P. Kreiselmaier R. Glaubitz J. Deutinger E. Merz |
| author_sort | B. Eiben |
| collection | DOAJ |
| description | Background & Patient:
Data from 3 008 patients, who underwent single-nucleotide-polymorphism (SNP)-based noninvasive prenatal testing (NIPT) are presented.
Method:
The PanoramaTM test (Natera, San Carlos, CA) was used to analyze cell-free fetal DNA from maternal blood for trisomies 21, 18, and 13, triploidy and sex-chromosome aneuploidies.
Result:
In 2 942 (97.8%) cases, a result was obtained. The average fetal fraction was 10.2%. A high-risk result for fetal aneuploidy was made for 65 (2.2%) cases. In 59 (90.8%) of these cases, invasive testing confirmed the aneuploidy. There were 6 false-positive cases. In the false-positive group, the fetal fraction was significantly lower. The overall positive predictive value was 90.8%. No false-negative cases were reported but many patients in this study have not delivered yet. Therefore, exact data cannot be given for potential false-negative cases.
Conclusion:
SNP-based NIPT is a reliable screening method for evaluating the risk of aneuploidies of chromosomes 21, 18 and 13. By using NIPT, the number of invasive procedures may be reduced significantly compared to maternal age and first-trimester screening. |
| first_indexed | 2024-12-14T09:26:17Z |
| format | Article |
| id | doaj.art-5bb5a7ecc5dc455f8b7b90411c2ebcbc |
| institution | Directory Open Access Journal |
| issn | 2509-596X 2199-7152 |
| language | English |
| last_indexed | 2024-12-14T09:26:17Z |
| publishDate | 2015-06-01 |
| publisher | Georg Thieme Verlag KG |
| record_format | Article |
| series | Ultrasound International Open |
| spelling | doaj.art-5bb5a7ecc5dc455f8b7b90411c2ebcbc2022-12-21T23:08:10ZengGeorg Thieme Verlag KGUltrasound International Open2509-596X2199-71522015-06-010101E8E1110.1055/s-0035-1555765Single Nucleotide Polymorphism-Based Analysis of Cell-Free Fetal DNA in 3000 Cases from Germany and AustriaB. Eiben0M. Krapp1H. Borth2N. Kutur3P. Kreiselmaier4R. Glaubitz5J. Deutinger6E. Merz7Institut für Klinische Genetik Nordrhein, Essen, Germanyamedes Hamburg, Zentrum für Endokrinologie, Kinderwunsch und Pränatale Medizin, Hamburg, GermanyGenetic Department, amedes Institut f. Labormedizin und Klinische Genetik Institut f. Labormedizin und Klinische Genetik Rhein/ Ruhr MVZ GmbH, Essen, GermanyGenetic Department, amedes Institut f. Labormedizin und Klinische Genetik Rhein/ Ruhr MVZ GmbH, Essen, GermanyMVZ FCH, amedes Hamburg, Zentrum für Pränatale Medizin, Hamburg, Germanyamedes Labor, Human Genetics, Hannover, GermanyUFK Wien, Dep. for Prenatal Diagnostic and Therapy, Wien, AustriaKH Nordwest, Obstetrics & Gynecology, Frankfurt/Main, GermanyBackground & Patient: Data from 3 008 patients, who underwent single-nucleotide-polymorphism (SNP)-based noninvasive prenatal testing (NIPT) are presented. Method: The PanoramaTM test (Natera, San Carlos, CA) was used to analyze cell-free fetal DNA from maternal blood for trisomies 21, 18, and 13, triploidy and sex-chromosome aneuploidies. Result: In 2 942 (97.8%) cases, a result was obtained. The average fetal fraction was 10.2%. A high-risk result for fetal aneuploidy was made for 65 (2.2%) cases. In 59 (90.8%) of these cases, invasive testing confirmed the aneuploidy. There were 6 false-positive cases. In the false-positive group, the fetal fraction was significantly lower. The overall positive predictive value was 90.8%. No false-negative cases were reported but many patients in this study have not delivered yet. Therefore, exact data cannot be given for potential false-negative cases. Conclusion: SNP-based NIPT is a reliable screening method for evaluating the risk of aneuploidies of chromosomes 21, 18 and 13. By using NIPT, the number of invasive procedures may be reduced significantly compared to maternal age and first-trimester screening.http://www.thieme-connect.de/DOI/DOI?10.1055/s-0035-1555765laboratory testspregnancychromosomal aberrationdown syndromescreening |
| spellingShingle | B. Eiben M. Krapp H. Borth N. Kutur P. Kreiselmaier R. Glaubitz J. Deutinger E. Merz Single Nucleotide Polymorphism-Based Analysis of Cell-Free Fetal DNA in 3000 Cases from Germany and Austria Ultrasound International Open laboratory tests pregnancy chromosomal aberration down syndrome screening |
| title | Single Nucleotide Polymorphism-Based Analysis of Cell-Free Fetal DNA in 3000 Cases from Germany and Austria |
| title_full | Single Nucleotide Polymorphism-Based Analysis of Cell-Free Fetal DNA in 3000 Cases from Germany and Austria |
| title_fullStr | Single Nucleotide Polymorphism-Based Analysis of Cell-Free Fetal DNA in 3000 Cases from Germany and Austria |
| title_full_unstemmed | Single Nucleotide Polymorphism-Based Analysis of Cell-Free Fetal DNA in 3000 Cases from Germany and Austria |
| title_short | Single Nucleotide Polymorphism-Based Analysis of Cell-Free Fetal DNA in 3000 Cases from Germany and Austria |
| title_sort | single nucleotide polymorphism based analysis of cell free fetal dna in 3000 cases from germany and austria |
| topic | laboratory tests pregnancy chromosomal aberration down syndrome screening |
| url | http://www.thieme-connect.de/DOI/DOI?10.1055/s-0035-1555765 |
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