Page 90 - ASHG 2012 Annual Meeting Program Guide

INVITED AND PLATFORM SESSIONS
79
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INVITED AND PLATFORM SESSIONS
SESSION 18 – Prenatal and Perinatal Genetics
Room 130, Lower Level North, Moscone Center
Moderators
:
Natalie Blagowidow, Harvey Inst. for
Human Genet., Baltimore; David Chitayat, Mount Sinai
Hosp., Toronto, Canada
70
/10:30
Lessons learned from next-gen
cytogenetics: Whole genome sequence-based
prenatal diagnosis of apparently balanced de novo
chromosome rearrangements.
Z. Ordulu,
M. Talkowski, V. Pillalamarri, S. Pereira, I. Blumenthal,
C. Hanscom, A. M. Lindgren, N. Hussain, S. Connolly,
L. E. Wilkins-Haug, J. F. Gusella, C. C. Morton.
71
/10:45
The use of chromosome microarray
analysis as a first-line test in pregnancies with a
priori low risk for detection of submicroscopic
chromosomal abnormalities.
F. Fiorentino,
S. Napoletano, C. Caiazzo, M. Sessa, S. Bono,
L. Spizzichino, S. Michiorri, A. Gordon, A. Nuccitelli,
G. Rizzo, M. Baldi.
72
/11:00
The challenge of preconceptional,
preimplantation, and prenatal genetic diagnoses of
mitochondrial DNA disorders.
J. Steffann, S.
Monnot, N. Gigarel, P. Vachin, E. Herzog, P. Burlet,
N. Frydman, A. Benachi, G. Chalouhi, Y. Ville, R.
Frydman, A.-S. Lebre, A. Rotig, D. C. Samuels, C. Elie,
A. Munnich, J.-P. Bonnefont.
73
/11:15
The incidence and spectrum of genomic
imbalance in products of conception: New insights
from SNP microarray analysis of 2,400 miscarriage
specimens.
B. Levy, S. Sigurjonsson, B. J. Pettersen,
M. K. Maisenbacher, Z. P. Demko, R. Lathi, R. Tao,
V. Aggarwal, M. Rabinowitz.
74
/11:30
Noninvasive whole-genome sequencing of
a human fetus.
J. O. Kitzman, M. W. Snyder, M.
Ventura, A. P. Lewis, R. Qiu, L. E. Simmons, H. S.
Gammill, C. E. Rubens, D. A. Santillan, M. K. Santillan,
J. C. Murray, H. K. Tabor, M. J. Bamshad, E. E. Eichler,
J. A. Shendure.
75
/11:45
Spina bifida risk is conferred by multiple
polymorphisms in folate one-carbon pathway
genes.
D. Gilbert, K. Lazaruk, J. Stein, J. Hardin, J.
Witte, G. Shaw, E. Lammer, N. Marini, J. Rine.
76
/12:00
Bioinformatics approach for identifying the
genetic contributions to preeclampsia.
A.Uzun,
I. Kurihara, J. Tavormina, R. Cabezas, A. Laliberte,
A. Dewan, E. Triche, J. Padbury.
77
/12:15
Antenatal spectrum of CHARGE syndrome
in 40 fetuses with
CHD7
mutations.
M. Legendre,
M. Gonzales, G. Goudefroye, F. Bilan, P. Parisot,
M. J. Perez, M. Bonnière, B. Bessières, J.
Martinovic, A.-L. Delezoide, F. Jossic, C. Fallet-
Bianco, M. Bucourt, J. Tantau, P. Loget, L. Loeuillet,
N. Laurent, B. Leroy, H. Salhi, C. Rouleau, F. Guimiot,
C. Chelin, A. Bazin, C. Alby, A. Kitzis, Y. Ville,
F. Encha-Razavi, B. GilbertDussardier, M. Vekemans,
T. Attié-Bitach, SOFFOET.
78
/12:30
Genetic normalization of day-3 embryos:
Results from two independent preimplantation
genetic screening laboratories.
P. Brezina,
E. Littman, Y. Sun, V. Phan, R. Anchan, A. Barker,
M. Hughes, G. R. Cutting, W. G. Kearns.
Wednesday, November 7
10:30
AM
–12:45
PM
Concurrent Platform (abstract-driven)
Session A (11-19)