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Ultrasound in Obstetrics and Gynecology

Resumen/Descripción – provisto por la editorial

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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

Tabla de contenidos

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. KamphofORCID; M. van RoekelORCID; J. Henrichs; H. de Vreede; C. J. Verhoeven; A. Franx; A. de Jonge; W. GanzevoortORCID; S. J. GordijnORCID

Palabras clave: Obstetrics and Gynecology; Radiology, Nuclear Medicine and imaging; Reproductive Medicine; General Medicine; Radiological and Ultrasound Technology.

Pp. No disponible

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. SyngelakiORCID; 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

Prenatal exome sequencing analysis in fetuses with central nervous system anomalies

Y. ZhiORCID; 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 &lt;</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