The DOI matches its Crossref record; 3 of the 3 references it cites were found in a registry or an index.
Expanding the scope of noninvasive prenatal testing: detection of fetal microdeletion syndromes
Open accessAbstract
OBJECTIVE: The purpose of this study was to estimate the performance of a single-nucleotide polymorphism (SNP)-based noninvasive prenatal test for 5 microdeletion syndromes. STUDY DESIGN: Four hundred sixty-nine samples (358 plasma samples from pregnant women, 111 artificial plasma mixtures) were amplified with the use of a massively multiplexed polymerase chain reaction, sequenced, and analyzed with the use of the Next-generation Aneuploidy Test Using SNPs algorithm for the presence or absence of deletions of 22q11.2, 1p36, distal 5p, and the Prader-Willi/Angelman region. RESULTS: Detection rates were 97.8% for a 22q11.2 deletion (45/46) and 100% for Prader-Willi (15/15), Angelman (21/21), 1p36 deletion (1/1), and cri-du-chat syndromes (24/24). False-positive rates were 0.76% for 22q11.2 deletion syndrome (3/397) and 0.24% for cri-du-chat syndrome (1/419). No false positives occurred for Prader-Willi (0/428), Angelman (0/442), or 1p36 deletion syndromes (0/422). CONCLUSION: SNP-based noninvasive prenatal microdeletion screening is highly accurate. Because clinically relevant microdeletions and duplications occur in >1% of pregnancies, regardless of maternal age, noninvasive screening for the general pregnant population should be considered.
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Cites
Chromosomal microarray versus karyotyping for prenatal diagnosis
Wapner, R. J., Martin, C. L., Levy, B., Ballif, B. C., Eng, C. M., Zachary, J. M., Savage, M., Platt, L. D., Saltzman, D., Grobman, W. A., et al. (2012) · New England Journal of Medicine · doi:10.1056/nejmoa1203382 · Cited by 1,412
Self-citationFrequency of 22q11 deletions in patients with conotruncal defects
Goldmuntz, E., Clark, B. J., Mitchell, L. E., Jawad, A. F., Cuneo, B. F., Reed, L., McDonald-McGinn, D., Chien, P., Feuer, J., Zackai, E. H., et al. (1998) · Journal of the American College of Cardiology · doi:10.1016/s0735-1097(98)00259-9 · Cited by 592
Prader–Willi syndrome and Angelman syndrome
Buiting, K. (2010) · American Journal of Medical Genetics Part C: Seminars in Medical Genetics · doi:10.1002/ajmg.c.30273 · Cited by 336
Cited by
McDonald-McGinn, D. M., Sullivan, K. E., Marino, B., Philip, N., Swillen, A., Vorstman, J. A. S., Zackai, E. H., Emanuel, B. S., Vermeesch, J. R., Morrow, B. E., et al. (2015) · Nature Reviews Disease Primers · doi:10.1038/nrdp.2015.71 · Cited by 2,236
Prenatal diagnosis by chromosomal microarray analysis
Levy, B., & Wapner, R. (2018) · Fertility and Sterility · doi:10.1016/j.fertnstert.2018.01.005 · Cited by 341
Self-citationBenn, P., Borrell, A., Chiu, R. W. K., Cuckle, H., Dugoff, L., Faas, B., Gross, S., Huang, T., Johnson, J., Maymon, R., et al. (2015) · Prenatal Diagnosis · doi:10.1002/pd.4608 · Cited by 292
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Metadata
- Authors
- Wapner, R. J., Babiarz, J. E., Levy, B., Stosic, M., Zimmermann, B., Sigurjonsson, S., Wayham, N., Ryan, A., Banjevic, M., Lacroute, P., Hu, J., Hall, M. P., Demko, Z., Siddiqui, A., Rabinowitz, M., Gross, S. J., Hill, M., & Benn, P.
- Venue
- American Journal of Obstetrics and Gynecology
- Publisher
- Elsevier BV
- Published
- 2015-03
- Volume
- 212
- Issue
- 3
- Pages
- 332.e1-332.e9
- ISSN
- 0002-9378 (ISSN-L)
- OpenAlex
- W2170212209
- Cited by
- 325
- References
- 3
- FWCI
- 31.07
- Type
- journal article
- Language
- en
- Open access
- hybrid
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- Wapner, R. J., Babiarz, J. E., Levy, B., Stosic, M., Zimmermann, B., Sigurjonsson, S., Wayham, N., Ryan, A., Banjevic, M., Lacroute, P., Hu, J., Hall, M. P., Demko, Z., Siddiqui, A., Rabinowitz, M., Gross, S. J., Hill, M., & Benn, P. (2015). Expanding the scope of noninvasive prenatal testing: detection of fetal microdeletion syndromes. American Journal of Obstetrics and Gynecology. https://doi.org/10.1016/j.ajog.2014.11.041
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