Results 141 to 150 of about 4,816,070 (413)

Growth Charts for Children With Beckwith–Wiedemann Spectrum

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Beckwith–Wiedemann spectrum (BWSp) is an overgrowth disorder caused by (epi)genetic alterations in chromosome 11p15. This study aimed to develop BWSp‐specific growth charts and explore genotype/phenotype correlations with respect to growth. Heights, weights, and head circumferences were retrospectively collected from 581 individuals with BWSp ...
Saskia M. Maas, Peter Lauffer, Guido Cocchi, Madison DeMarchis, Andrew M. George, Alessandro Mussa, Francesco Pellegrino, Alexander M. J. Spaans, Emma C. van den Brink, Jan M. Wit, Leonie A. Menke, Jennifer M. Kalish   +11 more
wiley   +1 more source

New cut-off values for screening of trisomy 21, 18 and open neural tube defects (ONTD) during the second trimester in pregnant women with advanced maternal age

BMC Pregnancy and Childbirth, 2020
Background To determine whether advanced maternal age (AMA) causes changes in the maternal serum markers of Trisomy 21, 18 and open neural tube defects (ONTD) during the second trimester of pregnancy.
Yiming Chen, Xue Wang, Liyao Li, Sha Lu, Zhifen Zhang   +4 more
doaj   +1 more source

Extended Growth Curves for the Wolf‐Hirschhorn Syndrome (4p‐)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Wolf‐Hirschhorn syndrome (WHS) is a rare, highly variable contiguous gene deletion syndrome caused by deletions of the distal portion of the short arm of chromosome 4. Individuals with this disorder have prenatal onset of poor growth of all dimensions, along with neurological manifestations, developmental disability, and distinctive facial ...
Amy R. U. L. Calhoun, Amanda Lortz, T. Charles Casper, John C. Carey   +3 more
wiley   +1 more source

Functional analysis of a novel homozygous missense IVD gene variant: a case report with dual genetic diagnoses

Frontiers in Pediatrics
BackgroundGenomic or exome sequencing is beneficial for identifying more than one pathogenic variation causing blended atypical and/or severe phenotypes.
Yuying Zhu, Ke Wu, Hanying Wen
doaj   +1 more source

Localization of Fetal Head in Ultrasound Images by Multiscale View and Deep Neural Networks [PDF]

arXiv, 2019
One of the routine examinations that are used for prenatal care in many countries is ultrasound imaging. This procedure provides various information about fetus health and development, the progress of the pregnancy and, the baby's due date. Some of the biometric parameters of the fetus, like fetal head circumference (HC), must be measured to check the ...
arxiv  

Effects of Prenatal Care on Birth Outcomes: Reconciling a Messy Literature

, 2018
Research on the effects of prenatal care on birth outcomes has produced a patchwork of findings that are not easily summarized. Studies have used varying definitions of prenatal care, leading to estimates that are difficult to compare. The identification
H. Corman, Dhaval M. Dave, N. Reichman
semanticscholar   +1 more source

Cluster Randomized Controlled Trial of Group Prenatal Care: Perinatal Outcomes Among Adolescents in New York City Health Centers.

American Journal of Public Health, 2016
OBJECTIVES We compared an evidence-based model of group prenatal care to traditional individual prenatal care on birth, neonatal, and reproductive health outcomes.
J. Ickovics, V. Earnshaw, Jessica B Lewis, T. Kershaw, U. Magriples, Emily C. Stasko, S. Rising, A. Cassells, Shayna Cunningham, P. Bernstein, J. Tobin   +10 more
semanticscholar   +1 more source

Prenatal Care Utilization for Mothers from Low-Income Areas of New Mexico, 1989–1999 [PDF]

, 2010
Background: Prenatal care is considered to be an important component of primary health care. Our study compared prenatal care utilization and rates of adverse birth outcomes for mothers from low- and higher-income areas of New Mexico between 1989 and ...
Carson, E. Ann, Romain, Sandra J., Schillaci, Michael A., Waitzkin, Howard   +3 more
core   +4 more sources

Phenotypic Characterization of Seven Pediatric Patients Diagnosed With KAT6B‐Related Disorders: Case Series and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genitopatellar syndrome (GPS) and Say‐Barber‐Biesecker‐Young‐Simpson Syndrome (SBBYSS) are clinically distinct neurodevelopmental disorders caused by monoallelic pathogenic variants in KAT6B. In some cases, GPS and SBBYSS features can overlap, determining an intermediate phenotype.
Vittorio Maglione, Antonio Pizzuti, Gioia Mastromoro, Eleonora Cresta, Paola Favata, Maria Cristina Digilio, Rossella Capolino, Maria Lisa Dentici, Lorenzo Sinibaldi, Antonio Novelli, Marco Tartaglia, Gianluca Terrin, Viviana Cardilli   +12 more
wiley   +1 more source

Medium‐chain Acyl‐COA dehydrogenase deficiency: Pathogenesis, diagnosis, and treatment

Endocrinology, Diabetes &Metabolism, Volume 6, Issue 1, January 2023., 2023
MCADD is a commonly inherited metabolic disease with serious implications for health outcomes, particularly in children, that may be successfully managed with proper intervention. In this review, we discuss the genetics, pathogenesis, clinical presentation, diagnosis, and treatments for Medium‐Chain Acyl‐CoA Dehydrogenase Deficiency (MCADD ...
Emily Mason, Charles C. T. Hindmarch, Kimberly J. Dunham‐Snary   +2 more
wiley   +1 more source