Age at and indication for diagnosis of Turner syndrome in the pediatric population

Early diagnosis of Turner syndrome (TS) enables timely intervention and may improve outcomes, but many are still diagnosed late. The objectives of our study were to describe the age and clinical features leading to diagnosis of TS in a large referral center. We hypothesize that newer testing modalit...

Full description

Saved in:
Bibliographic Details
Published in:American journal of medical genetics. Part A 2021-11, Vol.185 (11), p.3411-3417
Main Authors: Swauger, Sarah, Backeljauw, Philippe, Hornung, Lindsey, Shafer, Jessica, Casnellie, Lori, Gutmark‐Little, Iris
Format: Article
Language:English
Subjects:
Adolescent
Age
Age Factors
Child
Child, Preschool
Children
Diagnosis
Dwarfism - diagnosis
Dwarfism - genetics
Dwarfism - pathology
Early Diagnosis
Female
Genetic disorders
Humans
Infant, Newborn
Karyotype
Karyotypes
Karyotyping
Lymphedema
Medical records
Neonates
Noninvasive Prenatal Testing
Patients
Pediatrics
short stature
Turner syndrome
Turner Syndrome - diagnosis
Turner Syndrome - genetics
Turner Syndrome - physiopathology
Turner's syndrome
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Early diagnosis of Turner syndrome (TS) enables timely intervention and may improve outcomes, but many are still diagnosed late. The objectives of our study were to describe the age and clinical features leading to diagnosis of TS in a large referral center. We hypothesize that newer testing modalities, such as noninvasive prenatal testing (NIPT), may lead to a decline in the age of diagnosis. Medical records of TS patients followed at The Cincinnati Center for Pediatric and Adult TS Care between 1997 and 2016 were reviewed for age at diagnosis, karyotype, and clinical indication(s). Patients (
ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.62459