Search Results - "Musci, Thomas"
-
1
Cell-free DNA Analysis for Noninvasive Examination of Trisomy
Published in The New England journal of medicine (23-04-2015)“…This multicenter study compared a prenatal assay of cell-free DNA with a standard method of screening for trisomies among women at average risk. The positive…”
Get full text
Journal Article -
2
Gestational age and maternal weight effects on fetal cell-free DNA in maternal plasma
Published in Prenatal diagnosis (01-07-2013)“…ABSTRACT Objective To determine the effects of gestational age and maternal weight on percent fetal cell‐free DNA (cfDNA) in maternal plasma and the change in…”
Get full text
Journal Article -
3
Clinical performance of non-invasive prenatal testing (NIPT) using targeted cell-free DNA analysis in maternal plasma with microarrays or next generation sequencing (NGS) is consistent across multiple controlled clinical studies
Published in Prenatal diagnosis (01-12-2015)“…Objective To evaluate the clinical performance of non‐invasive prenatal testing for trisomy 21, 18, and 13 using targeted cell‐free DNA (cfDNA) analysis…”
Get full text
Journal Article -
4
Clinical utility and cost of non-invasive prenatal testing with cfDNA analysis in high-risk women based on a US population
Published in The journal of maternal-fetal & neonatal medicine (01-08-2013)“…Abstract Objective: Evaluate the clinical and economic consequences of fetal trisomy 21 (T21) screening with non-invasive prenatal testing (NIPT) in high-risk…”
Get full text
Journal Article -
5
Clinical experience of noninvasive prenatal testing with cell-free DNA for fetal trisomies 21, 18, and 13, in a general screening population
Published in Prenatal diagnosis (01-06-2013)“…ABSTRACT Objective Evaluate noninvasive prenatal testing (NIPT) with cell‐free DNA as a screening method for trisomies 21, 18, and 13 in an obstetrical…”
Get full text
Journal Article -
6
Assessment of fetal sex chromosome aneuploidy using directed cell-free DNA analysis
Published in Fetal diagnosis and therapy (01-02-2014)“…To examine the performance of chromosome-selective sequencing of cell-free (cf) DNA in maternal blood for assessment of fetal sex chromosome aneuploidies. This…”
Get more information
Journal Article -
7
Non-invasive prenatal testing with cell-free DNA: US physician attitudes toward implementation in clinical practice
Published in Prenatal diagnosis (01-05-2013)“…ABSTRACT Objective The aim of this study was to assess awareness, potential adoption, and current utilization of non‐invasive prenatal testing (NIPT) analysis…”
Get full text
Journal Article -
8
Isolation of single circulating trophoblasts from maternal circulation for noninvasive fetal copy number variant profiling
Published in Prenatal diagnosis (01-01-2023)“…Objective To develop a multi‐step workflow for the isolation of circulating extravillous trophoblasts (cEVTs) by describing the key steps enabling a…”
Get full text
Journal Article -
9
Complications of Term Pregnancies Beyond 37 Weeks of Gestation
Published in Obstetrics and gynecology (New York. 1953) (01-01-2004)“…OBJECTIVE:To estimate when rates of pregnancy complications increase beyond 37 weeks of gestation. METHODS:We designed a retrospective, cohort study of all…”
Get full text
Journal Article -
10
COSMOS: a platform for real-time morphology-based, label-free cell sorting using deep learning
Published in Communications biology (22-09-2023)“…Cells are the singular building blocks of life, and a comprehensive understanding of morphology, among other properties, is crucial to the assessment of…”
Get full text
Journal Article -
11
The fetal fraction of cell-free DNA in maternal plasma is not affected by a priori risk of fetal trisomy
Published in The journal of maternal-fetal & neonatal medicine (01-01-2013)“…Objective: To determine the relationship between a priori risk for fetal trisomy and the fraction of fetal cell-free DNA (cfDNA) in maternal blood. Methods: A…”
Get full text
Journal Article -
12
The cost-effectiveness of prenatal screening for spinal muscular atrophy
Published in American journal of obstetrics and gynecology (01-03-2010)“…Objective We sought to investigate the cost-effectiveness of prenatal screening for spinal muscular atrophy (SMA). Study Design A decision analytic model was…”
Get full text
Journal Article -
13
Author Correction: COSMOS: a platform for real-time morphology-based, label-free cell sorting using deep learning
Published in Communications biology (09-10-2023)Get full text
Journal Article -
14
-
15
The tumor suppressor Smad4/DPC 4 as a central mediator of Smad function
Published in Current biology (01-04-1997)“…Background: The invertebrate and vertebrate Smad proteins have recently been identified as important mediators of the responses to transforming growth factor β…”
Get full text
Journal Article -
16
Cost-effectiveness analysis of prenatal population-based fragile X carrier screening
Published in American journal of obstetrics and gynecology (01-06-2005)“…To investigate the cost-effectiveness of a widespread prenatal population-based fragile X carrier screening program. A decision tree was designed comparing…”
Get full text
Journal Article Conference Proceeding -
17
Prenatal Carrier Testing for Fragile X: Counseling Issues and Challenges
Published in Obstetrics and gynecology clinics of North America (01-03-2010)“…Healthy women who carry a ‘‘premutation'’ in the FMR1 gene (or fragile X mental retardation protein) can pass on a further mutated copy of FMR1 to either male…”
Get full text
Journal Article -
18
Cell-Free DNA Analysis for Noninvasive Examination of Trisomy
Published in Obstetrical & gynecological survey (01-08-2015)“…ABSTRACTWhile cell-free DNA (cfDNA) testing for fetal aneuploidy has been shown to have a high detection rate for trisomy, most large studies have included…”
Get full text
Journal Article -
19
Assessment of Fetal Sex Chromosome Aneuploidy Using Directed Cell-Free DNA Analysis
Published in Obstetrical & gynecological survey (01-05-2014)“…ABSTRACTPrenatal screening for fetal aneuploidies has focused on trisomies 21, 18, and 13. The sex chromosome aneuploidies, monosomy X (45,X), Klinefelter…”
Get full text
Journal Article -
20
Fast MR Imaging of Fetal CNS Anomalies in Utero
Published in American journal of neuroradiology : AJNR (01-10-2000)“…Although sonography is the primary imaging technique for evaluating the developing fetus, significant limitations exist in the sonographic prenatal diagnosis…”
Get full text
Journal Article