Catálogo de publicaciones - revistas
Ultrasound in Obstetrics and Gynecology
Resumen/Descripción – provisto por la editorial
No disponible.
Palabras clave – provistas por la editorial
No disponibles.
Disponibilidad
Institución detectada | Período | Navegá | Descargá | Solicitá |
---|---|---|---|---|
No detectada | desde ene. 1991 / hasta dic. 2023 | Wiley Online Library |
Información
Tipo de recurso:
revistas
ISSN impreso
0960-7692
ISSN electrónico
1469-0705
Editor responsable
John Wiley & Sons, Inc. (WILEY)
País de edición
Estados Unidos
Fecha de publicación
2008-
Cobertura temática
Tabla de contenidos
doi: 10.1002/uog.26250
Predictive value of fetal growth trajectory from 20 weeks of gestation onwards for severe adverse perinatal outcomes in low‐risk population: secondary analysis of
IRIS
study
H. D. Kamphof; M. van Roekel; J. Henrichs; H. de Vreede; C. J. Verhoeven; A. Franx; A. de Jonge; W. Ganzevoort; S. J. Gordijn
Palabras clave: Obstetrics and Gynecology; Radiology, Nuclear Medicine and imaging; Reproductive Medicine; General Medicine; Radiological and Ultrasound Technology.
Pp. No disponible
doi: 10.1002/uog.26303
Screening for pre‐eclampsia by maternal serum glycosylated fibronectin at 11−13 weeks' gestation
N. Sokratous; M. Bednorz; P. Sarli; O. E. Morillo Montes; A. Syngelaki; A. Wright; K. H. Nicolaides
Palabras clave: Obstetrics and Gynecology; Radiology, Nuclear Medicine and imaging; Reproductive Medicine; General Medicine; Radiological and Ultrasound Technology.
Pp. No disponible
doi: 10.1002/uog.26254
Prenatal exome sequencing analysis in fetuses with central nervous system anomalies
Y. Zhi; L. Liu; H. Wang; X. Chen; Y. Lv; X. Cui; H. Chang; Y. Wang; S. Cui
<jats:title>ABSTRACT</jats:title><jats:sec><jats:title>Objective</jats:title><jats:p>To evaluate the utility of prenatal exome sequencing (pES) in fetuses with central nervous system (CNS) abnormalities.</jats:p></jats:sec><jats:sec><jats:title>Methods</jats:title><jats:p>This was a retrospective cohort study of fetuses identified to have CNS abnormality on prenatal ultrasound and/or magnetic resonance imaging. All fetuses were first analyzed by chromosomal microarray analysis (CMA). Fetuses with a confirmed aneuploidy or causal pathogenic copy‐number variant (CNV) on CMA did not undergo pES analysis and were excluded, while those with a negative CMA result were offered pES testing.</jats:p></jats:sec><jats:sec><jats:title>Results</jats:title><jats:p>Of the 167 pregnancies included in the study, 42 (25.1%) were identified to have a pathogenic or likely pathogenic (P/LP) variant. The diagnostic rate was significantly higher in fetuses with a non‐isolated CNS abnormality than in those with a single CNS abnormality (35.7% (20/56) <jats:italic>vs</jats:italic> 14.5% (8/55); <jats:italic>P =</jats:italic> 0.010). Moreover, when a fetus had three or more CNS abnormalities, the positive diagnostic rate increased to 42.9%. A total of 25/42 (59.5%) cases had <jats:italic>de</jats:italic>‐<jats:italic>novo</jats:italic> mutations, while, in the remaining cases, mutations were inherited and carried a significant risk of recurrence. Families whose fetus carried a P/LP mutation were more likely to choose advanced pregnancy termination than those with a variant of uncertain significance, secondary/incidental finding or negative pES result (83.3% (25/30) <jats:italic>vs</jats:italic> 41.3% (38/92); <jats:italic>P <</jats:italic> 0.001).</jats:p></jats:sec><jats:sec><jats:title>Conclusion</jats:title><jats:p>pES improved the identification of genetic disorders in fetuses with CNS anomalies without a chromosomal abnormality or CNV identified on CMA, regardless of the number of CNS anomalies and presence of extracranial abnormality. We also demonstrated that pES findings can significantly impact parental decision‐making. © 2023 International Society of Ultrasound in Obstetrics and Gynecology.</jats:p></jats:sec>
Pp. 721-726