Finding studies
Finding studies
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Lead
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Study Description: This is a deep phenotype study of women who are determined to have 45,X mosaicism as a secondary genomic finding following cfDNA sequencing during pregnancy. Objectives: * To define and describe a comprehensive phenotype of women with confirmed 45,X mosaicism initially found by cfDNA including cardiovascular, skeletal, metabolic, reproductive, audiometric, immunologic, and psychological functions. * To compare the comprehensive phenotype of women with confirmed 45,X mosaicism with a control population (a. age and BMI-matched female controls without 45, X mosaicism at the initial visit and b. NHANES age-and BMI-matched female data for the applicable year.) * To explore changes in phenotype for both 45,X mosaicism and control groups with somatic loss of X chromosome over time. Endpoints: Primary Endpoint: (i) Hypertension (as defined in 2017 by the American College of Cardiology/American Heart Association (ACC/AHA) Secondary Endpoints: * Cardiovascular: * Cardiac/coronary atherosclerosis * Cardiac function, valve assessment, aortic anatomy, endothelial function * Skeletal: * Height * Areal bone mineral density (aBMD) as per DXA * Bone turnover markers * Bone microarchitecture using trabecular bone score as per DXA * Occult fractures using vertebral fracture assessment as per DXA * Skeletal morphology for assessment of scoliosis * Metabolic: * Body fat distribution as per DXA * Anthropometrics; Body weight; Waist to hip ratio * Diabetes Mellitus * Thyroid disorders * Dyslipidemia * Assessment of liver for fatty disease and fibrosis as per abdominal MRE/MRS * Gynecologic and urologic: * Markers of gonadal function and ovarian reserve * Primary ovarian insufficiency, Infertility, Early menopause as per participant history * Sexual function (as assessed by scores of the Female Sexual Function Index (FSFI) and the PROMIS(Registered Trademark) Sexual Function and Satisfaction Measures Version 2.0) * Ovarian and uterine imaging as per pelvic ultrasound. * Renal imaging as per renal ultrasound * Obstetric: --Complications and outcomes of pregnancy as per participant history * Audiometric: --Assessment of hearing loss * Immunologic * Immune biomarkers * Celiac disease * Psychological: * PROMIS(Registered Trademark) Item Bank v1.0 - Emotional Distress - Anxiety - Short Form 8a * PROMIS(Registered Trademark) Item Bank v.1.0 - Emotional Distress - Depression - Short Form 8b * PROMIS(Registered Trademark) Scale v.1.2 - Global Health Exploratory endpoints: Changes in phenotype (as outlined above) for both 45,X mosaicism and control groups with somatic loss of X chromosome over time.
Age
18–99
Sex
FEMALE
Healthy volunteers
Accepted
