3 results on '"Brar, Herb"'
Search Results
2. Cell-free DNA Analysis for Noninvasive Examination of Trisomy
- Author
-
Norton, Mary E, Jacobsson, Bo, Swamy, Geeta K, Laurent, Louise C, Ranzini, Angela C, Brar, Herb, Tomlinson, Mark W, Pereira, Leonardo, Spitz, Jean L, Hollemon, Desiree, Cuckle, Howard, Musci, Thomas J, and Wapner, Ronald J
- Subjects
Reproductive Medicine ,Biomedical and Clinical Sciences ,Clinical Research ,Intellectual and Developmental Disabilities (IDD) ,Genetic Testing ,Genetics ,Prevention ,Conditions Affecting the Embryonic and Fetal Periods ,Brain Disorders ,Clinical Trials and Supportive Activities ,Pediatric ,4.2 Evaluation of markers and technologies ,Detection ,screening and diagnosis ,Reproductive health and childbirth ,Adolescent ,Adult ,Area Under Curve ,Chromosome Aberrations ,DNA ,Down Syndrome ,False Positive Reactions ,Female ,Fetus ,Humans ,Middle Aged ,Nuchal Translucency Measurement ,Pregnancy ,Pregnancy Trimester ,First ,Prenatal Diagnosis ,Prospective Studies ,Sensitivity and Specificity ,Single-Blind Method ,Young Adult ,Medical and Health Sciences ,General & Internal Medicine ,Biomedical and clinical sciences ,Health sciences - Abstract
BackgroundCell-free DNA (cfDNA) testing for fetal trisomy is highly effective among high-risk women. However, there have been few direct, well-powered studies comparing cfDNA testing with standard screening during the first trimester in routine prenatal populations.MethodsIn this prospective, multicenter, blinded study conducted at 35 international centers, we assigned pregnant women presenting for aneuploidy screening at 10 to 14 weeks of gestation to undergo both standard screening (with measurement of nuchal translucency and biochemical analytes) and cfDNA testing. Participants received the results of standard screening; the results of cfDNA testing were blinded. Determination of the birth outcome was based on diagnostic genetic testing or newborn examination. The primary outcome was the area under the receiver-operating-characteristic curve (AUC) for trisomy 21 (Down's syndrome) with cfDNA testing versus standard screening. We also evaluated cfDNA testing and standard screening to assess the risk of trisomies 18 and 13.ResultsOf 18,955 women who were enrolled, results from 15,841 were available for analysis. The mean maternal age was 30.7 years, and the mean gestational age at testing was 12.5 weeks. The AUC for trisomy 21 was 0.999 for cfDNA testing and 0.958 for standard screening (P=0.001). Trisomy 21 was detected in 38 of 38 women (100%; 95% confidence interval [CI], 90.7 to 100) in the cfDNA-testing group, as compared with 30 of 38 women (78.9%; 95% CI, 62.7 to 90.4) in the standard-screening group (P=0.008). False positive rates were 0.06% (95% CI, 0.03 to 0.11) in the cfDNA group and 5.4% (95% CI, 5.1 to 5.8) in the standard-screening group (P
- Published
- 2015
3. Cell-free DNA analysis for noninvasive examination of trisomy.
- Author
-
Norton, Mary E, Jacobsson, Bo, Swamy, Geeta K, Laurent, Louise C, Ranzini, Angela C, Brar, Herb, Tomlinson, Mark W, Pereira, Leonardo, Spitz, Jean L, Hollemon, Desiree, Cuckle, Howard, Musci, Thomas J, and Wapner, Ronald J
- Subjects
Fetus ,Humans ,Down Syndrome ,Chromosome Aberrations ,DNA ,False Positive Reactions ,Nuchal Translucency Measurement ,Prenatal Diagnosis ,Area Under Curve ,Sensitivity and Specificity ,Prospective Studies ,Single-Blind Method ,Pregnancy ,Pregnancy Trimester ,First ,Adolescent ,Adult ,Middle Aged ,Female ,Young Adult ,Clinical Trials and Supportive Activities ,Pediatric ,Genetics ,Brain Disorders ,Conditions Affecting the Embryonic and Fetal Periods ,Intellectual and Developmental Disabilities (IDD) ,Clinical Research ,Prevention ,Genetic Testing ,4.2 Evaluation of markers and technologies ,Reproductive health and childbirth ,General & Internal Medicine ,Medical and Health Sciences - Abstract
BackgroundCell-free DNA (cfDNA) testing for fetal trisomy is highly effective among high-risk women. However, there have been few direct, well-powered studies comparing cfDNA testing with standard screening during the first trimester in routine prenatal populations.MethodsIn this prospective, multicenter, blinded study conducted at 35 international centers, we assigned pregnant women presenting for aneuploidy screening at 10 to 14 weeks of gestation to undergo both standard screening (with measurement of nuchal translucency and biochemical analytes) and cfDNA testing. Participants received the results of standard screening; the results of cfDNA testing were blinded. Determination of the birth outcome was based on diagnostic genetic testing or newborn examination. The primary outcome was the area under the receiver-operating-characteristic curve (AUC) for trisomy 21 (Down's syndrome) with cfDNA testing versus standard screening. We also evaluated cfDNA testing and standard screening to assess the risk of trisomies 18 and 13.ResultsOf 18,955 women who were enrolled, results from 15,841 were available for analysis. The mean maternal age was 30.7 years, and the mean gestational age at testing was 12.5 weeks. The AUC for trisomy 21 was 0.999 for cfDNA testing and 0.958 for standard screening (P=0.001). Trisomy 21 was detected in 38 of 38 women (100%; 95% confidence interval [CI], 90.7 to 100) in the cfDNA-testing group, as compared with 30 of 38 women (78.9%; 95% CI, 62.7 to 90.4) in the standard-screening group (P=0.008). False positive rates were 0.06% (95% CI, 0.03 to 0.11) in the cfDNA group and 5.4% (95% CI, 5.1 to 5.8) in the standard-screening group (P
- Published
- 2015
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