Results 71 to 80 of about 20,549 (261)

Implementation and Performance of First‐Trimester Referral Ultrasound Scan Following the Introduction of National Guidelines

open access: yesJournal of Clinical Ultrasound, EarlyView.
The expert assessment of fetal anatomy before 14 weeks is feasible when adopting a standardized protocol and allows an early diagnosis in most cases at risk for fetal anomaly following first trimester screening ultrasound. ABSTRACT Background To report the implementation across Fetal Medicine units and the agreement between first and second trimester ...
Grazia Volpe   +11 more
wiley   +1 more source

Image_2_Clinical Genetics of Polydactyly: An Updated Review.TIF

open access: yes, 2018
Polydactyly, also known as hyperdactyly or hexadactyly is the most common hereditary limb anomaly characterized by extra fingers or toes, with various associated morphologic phenotypes as part of a syndrome (syndromic polydactyly) or may occur as a ...
Muhammad Bilal (737265)   +4 more
core   +1 more source

Epidemiology of congenital polydactyly and syndactyly in Hunan Province, China

open access: yesBMC Pregnancy and Childbirth
Objective To describe the prevalence and epidemiology of congenital polydactyly and syndactyly in Hunan Province, China, 2016–2020. Methods Data were obtained from the Birth Defects Surveillance System in Hunan Province, China, 2016–2020.
Xu Zhou   +10 more
doaj   +1 more source

Feasibility of Imaging the Uvula at the Midtrimester Anomaly Ultrasound

open access: yesJournal of Ultrasound in Medicine, EarlyView.
Objectives The fetal palate is not routinely imaged as part of the midtrimester fetal anomaly ultrasound, despite being associated with many syndromes. The “equal sign” depicts the lateral borders of the uvula on 2‐dimensional fetal ultrasound. We assessed the feasibility of adding the equal sign to the midtrimester fetal anomaly ultrasound.
Anna Rose Sims   +3 more
wiley   +1 more source

Prenatal diagnosis of a familial 1q21.1-q21.2 microdeletion in a fetus with polydactyly of left foot on prenatal ultrasound

open access: yesTaiwanese Journal of Obstetrics & Gynecology, 2018
Objective: We present prenatal diagnosis of a familial 1q21.1-q21.2 microdeletion in a fetus with polydactyly of left foot on prenatal ultrasound. Case report: A 30-year-old, gravida 2, para 1, woman underwent amniocentesis at 22 weeks of gestation ...
Chih-Ping Chen   +10 more
doaj   +1 more source

Sturge-Weber syndrome coexisting with polydactyly: a case report

open access: yesBMC Ophthalmology, 2021
Background Sturge-Weber syndrome (SWS) is a sporadic congenital disorder, characterized by unilateral facial nevus flammeus associated with ipsilateral glaucoma, choroidal angioma and leptomeningeal hemangiomas.
Hongxi Wang   +3 more
doaj   +1 more source

Is There Potential Clinical Utility in Reporting Variants of Uncertain Significance From Prenatal Sequencing?

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective Prenatal sequencing of fetuses with abnormalities detected on imaging is expanding globally. Debate continues over whether variants of uncertain significance (VUS) should be reported prenatally, with some recent national position statements opposing this.
A. Gibbs   +13 more
wiley   +1 more source

Spontaneous pre-axial polydactyly in Swiss mice

open access: yes, 2022
: Spontaneous polydactyly has been described in several species, but only one report about it in Swiss mice. The aim of the current study was to report the spontaneous occurrence of pre-axial polydactyly in Swiss mice.
Adrielle Spinelli da Cruz (12656891)   +2 more
core   +1 more source

Prenatal Spectrum of COL2A1‐Related Spondyloepiphyseal Dysplasia Congenita: A Review and Two Case Reports

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective To review the published literature on prenatal findings of COL2A1‐related SEDC, summarizing reported imaging and molecular variants, and to describe two additional prenatal cases evaluated at a tertiary referral center. Method A narrative review with a systematic search strategy was conducted to analyze prenatal imaging findings ...
López‐Rodríguez Larissa   +10 more
wiley   +1 more source

Polydactyly of the Foot Diagnosed from a Minor Nail Problem [PDF]

open access: yes, 2020
Polydactyly is one of the most common foot congenital anomalies. It is often detected immediately after birth, but the diagnosis can sometimes be delayed if the symptoms are less evident.
Tsukahara, Hirokazu   +4 more
core   +1 more source

Home - About - Disclaimer - Privacy