Volume 33; Issue 6

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Prenatal Diagnosis
Volume 33; Issue 6

Prenatal Diagnosis

Volume 33; Issue 6

1

Clinical experience of noninvasive prenatal testing with cell-free DNA for fetal trisomies 21, 18, and 13, in a general screening population

Fairbrother, Genevieve, Johnson, Shayla, Musci, Thomas J., Song, Ken

Journal:

Prenatal Diagnosis

Année:

2013

Langue:

english

Fichier:

PDF, 245 KB

english, 2013

2

Noninvasive fetal genome sequencing: a primer

Snyder, Matthew W., Simmons, LaVone E., Kitzman, Jacob O., Santillan, Donna A., Santillan, Mark K., Gammill, Hilary S., Shendure, Jay

Journal:

Prenatal Diagnosis

Année:

2013

Langue:

english

Fichier:

PDF, 1.44 MB

english, 2013

3

Cell-free fetal DNA sex determination identified a maternal SRY gene with a known X chromosome deletion

Searle, C. J., Smith, K., Daniels, G., Maher, E. J., Quarrell, O.

Journal:

Prenatal Diagnosis

Année:

2013

Langue:

english

Fichier:

PDF, 67 KB

english, 2013

4

Discordant noninvasive prenatal testing results in a patient subsequently diagnosed with metastatic disease

Osborne, C. Michael, Hardisty, Emily, Devers, Patricia, Kaiser-Rogers, Kathleen, Hayden, Melissa A., Goodnight, William, Vora, Neeta L.

Journal:

Prenatal Diagnosis

Année:

2013

Langue:

english

Fichier:

PDF, 63 KB

english, 2013

5

Validation of targeted sequencing of single-nucleotide polymorphisms for non-invasive prenatal detection of aneuploidy of chromosomes 13, 18, 21, X, and Y

Nicolaides, K. H., Syngelaki, A., Gil, M., Atanasova, V., Markova, D.

Journal:

Prenatal Diagnosis

Année:

2013

Langue:

english

Fichier:

PDF, 151 KB

english, 2013

6

Benefits and limitations of whole genome versus targeted approaches for noninvasive prenatal testing for fetal aneuploidies

Boon, Elles M. J., Faas, Brigitte H. W.

Journal:

Prenatal Diagnosis

Année:

2013

Langue:

english

Fichier:

PDF, 392 KB

english, 2013

7

Secondary findings from non-invasive prenatal testing for common fetal aneuploidies by whole genome sequencing as a clinical service

Lau, Tze Kin, Jiang, Fu Man, Stevenson, Robert J., Lo, Tsz Kin, Chan, Lin Wai, Chan, Mei Ki, Lo, Pui Shan Salome, Wang, Wei, Zhang, Hong-Yun, Chen, Fang, Choy, Kwong Wai

Journal:

Prenatal Diagnosis

Année:

2013

Langue:

english

Fichier:

PDF, 1.50 MB

english, 2013

8

Fetal aneuploidy detection by maternal plasma DNA sequencing: a technology assessment

Walsh, Judith M. E., Goldberg, James D.

Journal:

Prenatal Diagnosis

Année:

2013

Langue:

english

Fichier:

PDF, 93 KB

english, 2013

9

Discordant results between fetal karyotyping and non-invasive prenatal testing by maternal plasma sequencing in a case of uniparental disomy 21 due to trisomic rescue

Pan, Min, Li, Fa Tao, Li, Yan, Jiang, Fu Man, Li, Dong Zhi, Lau, Tze Kin, Liao, Can

Journal:

Prenatal Diagnosis

Année:

2013

Langue:

english

Fichier:

PDF, 772 KB

english, 2013

10

Factors affecting the clinical use of non-invasive prenatal testing: a mixed methods systematic review

Skirton, Heather, Patch, Christine

Journal:

Prenatal Diagnosis

Année:

2013

Langue:

english

Fichier:

PDF, 164 KB

english, 2013

11

Commercial landscape of noninvasive prenatal testing in the United States

Agarwal, Ashwin, Sayres, Lauren C., Cho, Mildred K., Cook-Deegan, Robert, Chandrasekharan, Subhashini

Journal:

Prenatal Diagnosis

Année:

2013

Langue:

english

Fichier:

PDF, 378 KB

english, 2013

12

A method for noninvasive detection of fetal large deletions/duplications by low coverage massively parallel sequencing

Chen, Shengpei, Lau, Tze Kin, Zhang, Chunlei, Xu, Chenming, Xu, Zhengfeng, Hu, Ping, Xu, Jian, Huang, Hefeng, Pan, Ling, Jiang, Fuman, Chen, Fang, Pan, Xiaoyu, Xie, Weiwei, Liu, Ping, Li, Xuchao, Zhan

Journal:

Prenatal Diagnosis

Année:

2013

Langue:

english

Fichier:

PDF, 249 KB

english, 2013

13

Initial clinical laboratory experience in noninvasive prenatal testing for fetal aneuploidy from maternal plasma DNA samples

Futch, Tracy, Spinosa, John, Bhatt, Sucheta, de Feo, Eileen, Rava, Richard P., Sehnert, Amy J.

Journal:

Prenatal Diagnosis

Année:

2013

Langue:

english

Fichier:

PDF, 163 KB

english, 2013

14

The clinical implementation of non-invasive prenatal diagnosis for single-gene disorders: challenges and progress made

Lench, Nicholas, Barrett, Angela, Fielding, Sarah, McKay, Fiona, Hill, Melissa, Jenkins, Lucy, White, Helen, Chitty, Lyn S.

Journal:

Prenatal Diagnosis

Année:

2013

Langue:

english

Fichier:

PDF, 542 KB

english, 2013

15

Uptake of noninvasive prenatal testing (NIPT) in women following positive aneuploidy screening

Chetty, Shilpa, Garabedian, Matthew J., Norton, Mary E.

Journal:

Prenatal Diagnosis

Année:

2013

Langue:

english

Fichier:

PDF, 79 KB

english, 2013

16

Noninvasive prenatal detection of sex chromosomal aneuploidies by sequencing circulating cell-free DNA from maternal plasma

Mazloom, Amin R., Džakula, Željko, Oeth, Paul, Wang, Huiquan, Jensen, Taylor, Tynan, John, McCullough, Ron, Saldivar, Juan-Sebastian, Ehrich, Mathias, van den Boom, Dirk, Bombard, Allan T., Maeder, Ma

Journal:

Prenatal Diagnosis

Année:

2013

Langue:

english

Fichier:

PDF, 334 KB

english, 2013

17

Noninvasive prenatal testing creates an opportunity for antenatal treatment of Down syndrome

Guedj, Faycal, Bianchi, Diana W.

Journal:

Prenatal Diagnosis

Année:

2013

Langue:

english

Fichier:

PDF, 89 KB

english, 2013

18

Noninvasive prenatal testing: the paradigm is shifting rapidly

Chitty, Lyn S., Bianchi, Diana W.

Journal:

Prenatal Diagnosis

Année:

2013

Langue:

english

Fichier:

PDF, 69 KB

english, 2013