WithdrawnNot Applicable

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

Stopped: Study closed due to lack of resources. Study had no recruitment.

United States0Started 2025-04-01

Plain-language summary

Background: Mosaicism is a condition in which cells within the same person have a different genetic makeup. Sometimes, a type of mosaicism called 45,X may not be discovered in a woman until she undergoes routine tests during pregnancy. Little is known about how 45,X mosaicism may affect a person s long-term health. Objective: This natural history study will look for health risks in people with 45,X mosaicism. Eligibility: People aged 18 to 99 years who during pregnancy were found to have 45,X mosaicism. Healthy volunteers are also needed. Design: Participants will stay in the clinic for 2 days. They will have many tests: A physical exam, including measurements of the body. A gynecological exam, including genital measurements. Photos may be taken, with consent. Blood tests, with blood drawn over an 8-week period. An oral glucose test for diabetes may also be done. Tests of heart function. Participants will have small stickers attached to wires place on their chest, arms, and legs. Hearing tests. Ultrasound exams, which use echoing sound waves to create images of organs such as the heart and kidneys. Imaging scans including x-rays, MRI, and DXA. The DXA uses x-rays to measure bone density and body fat. Other types of scans will capture images of the liver. Participants will complete 4 surveys with questions about their sexual function, anxiety, depression, and health. Participants may remain in the study for 20 years. For 5 years, they will have a yearly follow-up by phone or email. They may have follow-up visits at the clinic every 5 years.

Who can participate

Age range

18 Years – 99 Years

Sex

FEMALE

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

* 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 st…

Questions worth asking your doctor

Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.

1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?

Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.

Questions for the trial coordinator

The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.

1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?

A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.

What they're measuring

Hypertension

Timeframe: 5 Years

Trial details

NCT IDNCT05548881

SponsorEunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)

Sponsor typeNIH

Study typeOBSERVATIONAL

Primary completion2025-04-01

View on ClinicalTrials.gov More Cardiovascular Phenotype trials