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806 Newest Publications from the industry diagnostics
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Genetic assessment following increased nuchal translucency and normal karyotype
01-03-2011 | Pergament, Eugene; Alamillo, Christina; Sak, Katrin; Fiddler, Morris, Prenatal Diagnosis, 2011
Abstract Objective The objective of this study was to assess the first formal approach for monitoring genetic/developmental syndromes associated with the presence of an increased nuchal translucency (NT) thickness (>3 mm) in the first trimester of pregnancy. Methods Multiple ...
Differential proteomics analysis of amniotic fluid in pregnancies of increased nuchal translucency with normal karyotype
01-03-2011 | Cheng, Po‐Jen; Wang, Tzu‐Hao; Huang, Shang‐Yu; Kao, Chuan‐Chi; Lu, Jen‐Hao; Hsiao ..., Prenatal Diagnosis, 2011
Abstract Objectives To investigate the functional roles of differentially expressed proteins in amniotic fluid supernatant (AFS) from normal karyotype pregnancies with increased nuchal translucency (NT). Methods AFS from fetuses with increased NT (>3.4 mm, N = 14) and control ...
3‐D ultrasound of the fetal ear and fetal autosomal trisomies: a pilot study of a new screening protocol
01-03-2011 | Ginsberg, Norman A.; Cohen, Leeber; Dungan, Jeffrey S.; Concialdi, Sandra; Mangers, Kristi; Shulman, Lee P., Prenatal Diagnosis, 2011
Abstract Objective We hypothesize that the rotation of the ear in fetuses with common autosomal trisomies will be markedly different from euploid fetuses and amenable to detection by 3‐D ultrasound in the render mode. Methods Study participants (10 weeks 4 days through 19 weeks 0 ...
New and/or improved aspects of fetal surgery
01-03-2011 | Luks, François I., Prenatal Diagnosis, 2011
Abstract Open fetal surgery through a wide hysterotomy is no longer a real option for prenatal intervention, but a minimally invasive approach has emerged as treatment for a small number of indications. Endoscopic ablation of placental vessels is the preferred treatment for severe ...
Parents' perspectives on the unforeseen finding of a fetal sex chromosomal aneuploidy
01-03-2011 | Pieters, J. J. P. M.; Kooper, A. J. A.; Eggink, A. J.; Verhaak, C. M.; Otten, B. J.; Braat, D. D. M.; Smits, A. P. T ..., Prenatal Diagnosis, 2011
Abstract Objective To investigate the parental perspectives of being confronted with an unforeseen fetal sex chromosomal aneuploidy (SCA), in light of the fact that this accidental finding is avoidable by rapid aneuploidy detection (RAD). Methods Exploratory qualitative interview ...
The stability of free‐β human chorionic gonadotrophin and pregnancy‐associated plasma protein‐A in first trimester dried blood spots
01-03-2011 | Cowans, Nicholas J.; Stamatopoulou, Anastasia; Liitti, Paivi; Suonpaa, Mikko; Spencer, Kevin, Prenatal Diagnosis, 2011
Abstract Objectives To determine the stability of first trimester free‐β human chorionic gonadotrophin (free‐β hCG) and pregnancy‐associated plasma protein‐A (PAPP‐A) in dried blood spots (DBSs) under typical storage conditions. Methods First trimester maternal blood was spotted ...
Monochorionic diamniotic twin gestations discordant for markedly enlarged nuchal translucency
01-03-2011 | Edlow, Andrea G.; Reiss, Rosemary; Benson, Carol B.; Gerrol, Pamela; Wilkins‐Haug, Louise, Prenatal Diagnosis, 2011
Abstract Objective To assess karyotypes and outcomes of monochorionic diamniotic (MCDA) twin pregnancies discordant for markedly enlarged nuchal translucency (NT) in the first trimester. Method Brigham and Women's Hospital's ultrasound database was queried to identify all MCDA ...
Incremental cost of non‐invasive prenatal diagnosis versus invasive prenatal diagnosis of fetal sex in England
01-03-2011 | Hill, Melissa; Taffinder, Sally; Chitty, Lyn S.; Morris, Stephen, Prenatal Diagnosis, 2011
Abstract Objectives Fetal sex determination is performed for women who carry X‐linked conditions, for example Duchenne muscular dystrophy (DMD), or those associated with ambiguous genitalia, for example congenital adrenal hyperplasia (CAH). Non‐invasive prenatal diagnosis (NIPD) using ...
Rapid and novel prenatal molecular assay for detecting aneuploidies and microdeletion syndromes
01-03-2011 | Gross, Susan J.; Bajaj, Komal; Garry, David; Klugman, Susan; Karpel, Barry M.; Marie Roe, Anne; Wagner, Brian J.; Zh ..., Prenatal Diagnosis, 2011
Abstract Objectives To develop a targeted aneuploidy and microdeletion detection platform for use in the prenatal setting, to assess the integrity of the platform with a robust validation system, and to prospectively determine the performance of the platform under routine clinical ...
Adjustment of maternal serum alpha‐fetoprotein levels in women with pregestational diabetes
01-03-2011 | Sprawka, Nicole; Lambert‐Messerlian, Geralyn; Palomaki, Glenn E.; Eklund, Elizabeth E.; Canick, Jacob A., Prenatal Diagnosis, 2011
Abstract Objective Decreased second trimester levels of maternal serum alpha‐fetoprotein (MSAFP) have been reported in women with pregestational diabetes leading some laboratories to use a correction factor. The aim of this study is to determine if MSAFP levels in pregnant women with ...
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