Results 131 to 140 of about 565,751 (376)

Non‐Invasive Prenatal Testing by Cell‐Free DNA (cfNIPT) for Detecting Turner Syndrome With Mosaicism and Structural Variants—Prenatal Findings and Postnatal Outcomes

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Turner Syndrome (TS) is a sex chromosomal disorder associated with karyotype heterogeneity. Although TS can be associated with severe prenatal findings, most often linked to the 45, X karyotype, the majority of TS fetuses have no overt phenotype, resulting in delayed diagnosis and management.
Ivonne Bedei   +10 more
wiley   +1 more source

Scientific Evidence for Different Options for GDM Screening and Management: Controversies and Review of the Literature. [PDF]

open access: yes, 2017
Background. Gestational diabetes (GDM) affects up to 7% of pregnant women and is associated with several maternal and perinatal morbidities. International organizations suggest several different recommendations regarding how to screen and to manage GDM ...
Berghella, Vincenzo, Caissutti, Claudia
core   +3 more sources

Management of Cardiovascular Health Issues in Turner Syndrome: Expert Insights and Expanded Recommendations From the 2024 Guideline Development Team

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Turner syndrome (TS) is frequently complicated by congenital heart disease (CHD). While left‐sided lesions such as bicuspid aortic valve (BAV) and coarctation of the aorta are the most common structural heart lesions in TS, other anomalies, such as aortic arch malformations, hypoplastic left heart syndrome (HLHS), persistent left superior vena
Katya de Groote   +9 more
wiley   +1 more source

Women’s experiences of commercial three-dimensional ultrasound scans [PDF]

open access: yes, 2015
Ultrasound has become a routine part of UK maternity care and has a range of diagnostic and screening purposes. The last two decades have seen the development of three-dimensional (3D) scans, which use computer software to produce a seemingly 3D image of
Glover, Lesley   +2 more
core  

The Spectrum of Neurologic Phenotypes Associated With NUS1 Pathogenic Variants: A Comprehensive Case Series

open access: yesAnnals of Neurology, EarlyView.
Objective A growing body of evidence indicates a strong genetic overlap between developmental and epileptic encephalopathies (DEEs) and movement disorders. De novo loss‐of‐function variants in NUS1 have been recently identified in DEE cases. Herein, we report a large cohort of cases with pathogenic NUS1 variants and describe their clinical presentation
Sarah M. Brooker   +79 more
wiley   +1 more source

Pregnancy outcomes in women with systemic sclerosis before and/or after diagnosis, and by parity ‐ A Swedish population‐based cohort study

open access: yesArthritis &Rheumatology, Accepted Article.
Objective To assess risks of adverse pregnancy outcomes (APO) in a contemporary cohort of women with systemic sclerosis (SSc) in relation to the timing of SSc diagnosis and by parity. Methods From the nationwide Swedish Medical Birth Register, we assembled pregnancies with births in women with SSc and in comparator women from the general population ...
Weng Ian Che   +5 more
wiley   +1 more source

Prevalence of rear seat belt use among pregnant women in a suburban area of Japan [PDF]

open access: yes, 2019
学位記番号:保博甲122 This is the accepted version of the following article: FULL CITE, which has been published in final form at [https://doi.org/10.1111/jog.13468]
Ogawa, Shota   +2 more
core  

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