NCT05548881 - Implications of Maternal 45,X Mosaicism as a Secondary Genomic Finding Following Cell-Free DNA Sequencing During Pregnancy: A Deep Phenotype Study

- INCLUSION CRITERIA: Individuals of all races/ethnicities are eligible to participate. - Individuals assigned female sex at birth ages >=18 to <= 99 years old who have not undergone medical and/or surgical transgender treatment - Suspected maternal 45,X mosaicism as a secondary genomic finding following cfDNA sequencing during pregnancy - Stated willingness to comply with all study procedures and availability for the duration of the study. - Ability of subject to understand and the willingness to sign a written informed consent document. - Ability to read and comprehend written and verbal English as the documents required for the study have not been translated for non-English speaking speakers. Inclusion criteria for control subjects: - Individuals assigned female sex at birth ages >=18 to <= 99 years old who have not undergone medical and/or surgical transgender treatment - Good general health. In general, subjects should take no medications. The use of over the counter and prescription medications will be reviewed on a case-by-case basis; depending on the medication, subjects who have continued to take prescription medication prior to study entry may be still eligible. - Stated willingness to comply with all study procedures and availability for the duration of the study. - Ability of subject to understand and the willingness to sign a written informed consent document. - Ability to read and comprehend written and verbal English as the documents required for the study have not been translated for non-English speaking speakers. EXCLUSION CRITERIA: An individual who meets any of the following criteria at screening or baseline will be excluded from participation in this study: - Male and transfemale individuals - Individuals with significant medical comorbidities (e.g. NYHA Class III or IV heart failure, or CKD Stage 3b or worse (eGFR < 60 mL/min/1.73 m2), or American Society of Anesthesiologists Physical Status Class 3 or above) or other serious disorders at the discretion of the investigators. - Individuals who have current substance abuse or a DSM 5 Axis I psychiatric disorder or DSM Axis II Mental Retardation diagnosis that in the opinion of the investigators would impede competence, compliance, or participation in the study Exclusion criteria for control subjects: - Male and transfemale individuals - Individuals with significant medical comorbidities (e.g. NYHA Class III or IV heart failure, or CKD Stage 3b or worse (eGFR < 60 mL/min/1.73 m2), or American Society of Anesthesiologists Physical Status Class 3 or above) or other serious disorders at the discretion of the investigators. - For females of reproductive potential: use of oral contraceptive pills, contraceptive patch, contraceptive vaginal ring within the past 3 months; use of depo medroxyprogesterone within the past 6 months; use of the etonorgestrel contraceptive implant within the past 1 month. - Individuals who are pregnant, planning to become pregnant, currently nursing an infant, or have irregular menses, defined as cycles less than 21 days or greater than 45 days in premenopausal women. - Previous history of the following: malignancy, chemotherapy, radiation therapy, primary ovarian insufficiency, galactosemia. - Individuals who have current substance abuse or a DSM 5 Axis I psychiatric disorder or DSM Axis II Mental Retardation diagnosis that in the opinion of the investigators would impede competence, compliance, or participation in the study. - Current use of tobacco or nicotine (eg. Nicotine patch, e-cigarette) products. - Individuals who have had prior ear surgery other than myringotomy, individuals with cochlear implants, individuals who require use of hearing aids.