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.
