Page 247 - ASHG 2012 Annual Meeting Program Guide

W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present
T Noninvasive prenatal sex determination using
massively parallel sequencing in samples from a large
clinical validation study.
P. Oeth, A. Mazloom, T. Wang,
G. E. Palomaki, J. A. Canick, A. Bombard, D. van den
Boom, M. Ehrich, C. Deciu.
T MeDIP real time qPCR of maternal peripheral
blood reliably identifies trisomy 21.
P. Patsalis, E.
Tsaliki, C. Spyrou, G. Koumbaris, E. Kypri, S. Kyriakou,
C. Sotiriou, E. Touvana, A. Keravnou, A. Karagrigoriou,
K. Lamnissou, V. Velissariou, C. Sismani, E. A.
T Highly accurate non-invasive detection of fetal
aneuploidy of chromosomes 13, 18, 21, X and Y by
targeted sequencing.
M. Rabinowitz, G. Gemelos, M. Hill,
B. Levy, S. McAdoo, M. Savage, Z. Demko.
T Accuracy of prenatal diagnosis in elective
termination of pregnancy.
J. Saraiva, F. Ramos, S. Maia,
M. Branco, J. Raposo, J. Sá, S. Sousa, M. Venâncio, R.
Pina, E. Galhano, L. Ramos.
T Non-Invasive Chromosomal Evaluation Study:
Results of a multicenter, prospective, cohort study for
detection of fetal trisomy 21 and trisomy 18.
K. Song,
H. Brar, J. Weiss, A. Karimi, L. C. Laurent, A. B. Caughey,
M. H. Rodriguez, J. Williams, III, M. E. Mitchell, C. D. Adair,
H. Lee, B. Jacobsson, M. W. Tomlinson, D. Oepkes, D.
Hollemon, A. B. Sparks, A. Oliphant, M. E. Norton, NICE
Study Group.
T Detection of fetal sub-chromosomal alterations
in maternal plasma cell-free DNA using massively
parallel sequencing.
A. Srinivasan, X. Li, J. Sprowl, A.
Huang, A. Sehnert, R. Rava.
T Approach to prenatally diagnosed esophageal
atresia/tracheoesophageal fistula.
B. Suskin, S.
Klugman, T. Goldwaser, A. Roe, K. Bajaj.
T Quantification of fetal DNA in maternal plasma
by massively parallel sequencing using fetal-specific
methylation markers.
M. Tang, J. Tynan, S. Sovath, A.
Maer, G. Hogg, D. van den Boom, P. Oeth.
T Curated gene set outperforms GWAS data on
pathway-based genetic analysis.
J. Padbury, A. Uzun, A.
Dewan, S. Istrail.
T Analysis of etiology and complications among
including 493 iatrogenic and 635 spontaneous,
Chinese preterm births.
M. Xiao, W. Ren, N. Zhong.
T Admixture mapping identifies susceptibility loci
associated with preterm birth in African Americans.
H. Tsai, X. Liu, X. Hong, G. Wang, T. Chang, Q. Chen, C.
Pearson, D. Caruso, L. Heffner, B. Zuckerman, X. Wang.
T Single nucleotide polymorphism in Toll-like
receptor 6 is associated with risk for
respiratory tract colonization and bronchopulmonary
dysplasia in preterm infants.
A. H. Winters, T. D. LeVan,
S. N. Vogel, K. L. Chesko, T. I. Pollin, R. M. Viscardi.
T Preimplantation genetic diagnosis in genomic
regions with duplications and pseudogenes: Long
range PCR in the single cell assay.
D. A. Zeevi, R.
Ron El, P. Renbaum, E. Kasterstein, D. Strassburger,
D. Komarovsky, B. Maslanski, I. Ben-Ami, O. Bern, A.
Komski, E. Levy Lahad, G. Altarescu.
T TAR syndrome diagnosis confirmed by aCGH
S. Ceylaner, Y. K. Terzi, S. Kalyoncu, F. I. Sahin.
T Prenatal detection of anophthalmia in three
cases with significantly different neonatal outcomes.
Bardakjian, D. Dorsainville, A. Schneider.
T Antenatal detection of a fetus with bilateral
anophthalmia and pulmonary hypoplasia: A rare case
C. C. Albu, D. F. Albu, M. Dumitrescu, E. Severin.
T Outcomes following antenatal diagnosis of
ultrasonographically isolated cleft lip with or without
cleft palate.
A. Lehman, L. Burnell, C. Verchere, D.
Pugash, S. Robertson, A. Loo.
T cfDNA is not compromised by temperature
stress of maternal blood collected in Streck cell-free
A. Huang, A. Srinivasan, V. Nguyen, J. Cheng,
J. Sprowl, R. Van Luchene, A. Aziz, D. Comstock.
T Effective epigenetic biomarker in first-trimester
maternal plasma for non-invasive fetal trisomy 21
J. Lim, D. Lee, S. Kim, M. Kim, S. Park, Y. Han,
M. Kim, M. Kim, K. Choi, H. Ryu.
T Prenatal diagnosis of a fetus with mosaic
trisomy 18, omphalocele and severe intrauterine
growth restriction: Case report.
D. F. Albu, C. C. Albu, A.
Oncescu, E. Severin, M. Dumitrescu.
T Chromosomal abnormalities in prenatal diagnosis:
An Indian perspective.
B. B. Ganguly, N. N. Kadam.
T A powerful ‘smart tip’ method for nucleic acid
extraction and enrichment of cell-free fetal DNA
from maternal plasma.
A. Gindlesperger, T. Stokes, P.
Belgrader, R. Holmberg.
T Prenatal detection of a supernumerary dicentric
chromosome 15 through cytogenetics and array CGH
after fetal ultrasound findings of micrognathia and
small stomach bubble.
J. L. Giordano, L. Cohen, V.
Pulijaal, S. Gelber.
T Prenatal diagnosis and fetal autopsy findings in
Aicardi syndrome.
M. C. Injeyan, I. Miron, P. Shannon, A.
Malinowski, S. Blaser, D. Chitayat.
T High-throughput massively parallel sequencing
for fetal aneuploidy detection from maternal plasma.
J. Jensen, T. Zwiefelhofer, R. C. Tim, Z. Dzakula, S. K. Kim,
A. R. Mazloom, G. McLennan, C. Deciu, D. van den Boom,
M. Ehrich.
T Isolation of selected, single chromosomes from
the isolated circulating fetal cells for clonal expansion,
molecular profiling, and next-generation sequencing.
M. Malecki, R. Malecki.