Results 91 to 100 of about 4,647,915 (366)

Neonatally Lethal Fanconi Anemia due to an Amish Founder FANCE Gene Variant; Evidence for Genotype–Phenotype Correlation

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Prenatal and neonatal presentations of multiple congenital anomalies are difficult to diagnose and are associated with an increased risk of lethality. The differential diagnosis of antenatal presentations of radial ray malformations includes Fanconi anemia (FA), an inherited bone marrow failure disorder associated with congenital anomalies in ...
Ethan M. Scott   +5 more
wiley   +1 more source

Quantifying Residual Motion Artifacts in Fetal fMRI Data [PDF]

open access: yesarXiv, 2020
Fetal functional Magnetic Resonance Imaging (fMRI) has emerged as a powerful tool for investigating brain development in utero, holding promise for generating developmental disease biomarkers and supporting prenatal diagnosis. However, to date its clinical applications have been limited by unpredictable fetal and maternal motion during image ...
arxiv  

Cohort Analysis of Immigrant Rhetoric on Timely and Regular Access of Prenatal Care.

open access: yesObstetrics and Gynecology, 2019
OBJECTIVE To assess whether recent anti-immigration rhetoric is significantly associated with inadequate prenatal care. METHODS This was a population-based cohort study (2011-2017).
Derrick M. Chu   +9 more
semanticscholar   +1 more source

Growth Charts for Children With Beckwith–Wiedemann Spectrum

open access: yesAmerican 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   +11 more
wiley   +1 more source

Health disparities in chronic liver disease

open access: yesHepatology, EarlyView., 2022
Abstract The syndemic of hazardous alcohol consumption, opioid use, and obesity has led to important changes in liver disease epidemiology that have exacerbated health disparities. Health disparities occur when plausibly avoidable health differences are experienced by socially disadvantaged populations.
Ani Kardashian   +3 more
wiley   +1 more source

PRENATAL CARE AND PREMATURITY [PDF]

open access: yesPediatric Research, 1984
The value of frequent routine prenatal clinic visits in seemingly uncomplicated pregnancies has been questioned. To determine whether routine outpatient care significantly influences the incidence of premature delivery, we analyzed prenatal care compliance among low-risk patients who delivered over a one-year period.
Franklin R Smith   +2 more
openaire   +1 more source

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

open access: yesAmerican 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   +3 more
wiley   +1 more source

A multicenter study of fetal chromosomal abnormalities in Chinese women of advanced maternal age

open access: yesTaiwanese Journal of Obstetrics & Gynecology, 2016
Objective: This study aimed to determine the rates of different fetal chromosomal abnormalities among women of advanced maternal age in China and to discuss the possible misdiagnosis risks of newer molecular techniques, for selection of appropriate ...
Yuning Zhu   +13 more
doaj   +1 more source

Prenatal care and socioeconomic status: effect on cesarean delivery

open access: yesHealth Economics Review, 2018
Cesarean deliveries are widely used in many high- and middle-income countries. This overuse both increases costs and lowers quality of care and is thus a major concern in the healthcare industry.
Carine Milcent, Saad Zbiri
semanticscholar   +1 more source

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

open access: yesAmerican 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   +12 more
wiley   +1 more source

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