Implications of Maternal 45,X Mosaicism as a Secondary Genomic Finding Following Cell-Free DNA Sequencing During Pregnancy: A Deep Phenotype Study
Public ClinicalTrials.gov record NCT05548881. Field values are reproduced from the official study page; the official ClinicalTrials.gov record remains the source of truth for eligibility, enrollment, and contact information.
Data is sourced from official ClinicalTrials.gov public API records. Always review the official ClinicalTrials.gov record for the latest information.
Official title
Implications of Maternal 45,X Mosaicism As A Secondary Genomic Finding Following Cell-free DNA Sequencing During Pregnancy: A Deep Phenotype Study
Brief summary
Reproduced verbatim from the official ClinicalTrials.gov record. Not medical advice.
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.
Study identification
- NCT ID
- NCT05548881
- Recruitment status
- Withdrawn
- Study type
- Observational
- Phase
- Not listed
- Lead sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
- NIH
- Enrollment
- Not listed
Conditions and interventions
Conditions
Interventions
Not listed
Eligibility (public fields only)
- Age range
- 18 Years to 99 Years
- Sex
- Female
- Healthy volunteers
- Accepts healthy volunteers
This page does not interpret eligibility. Detailed inclusion and exclusion criteria are on the official ClinicalTrials.gov record.
Study timeline
- Start date
- Mar 31, 2025
- Primary completion
- Mar 31, 2025
- Completion
- Mar 31, 2025
- Last update posted
- Apr 1, 2025
2025
United States locations
- U.S. sites
- 1
- U.S. states
- 1
- U.S. cities
- 1
| Facility | City | State | ZIP | Site status |
|---|---|---|---|---|
| National Institutes of Health Clinical Center | Bethesda | Maryland | 20892 | — |
Site contact phone numbers, emails, and investigator names are intentionally not displayed here. Open the official ClinicalTrials.gov record for site contact information.
About this trial record page
- What this page shows
- Public field values for ClinicalTrials.gov record NCT05548881, including study identification, conditions, interventions, eligibility (age, sex, healthy volunteer), timeline, and U.S. site list.
- What this page does not do
- No medical advice, eligibility judgments, treatment recommendations, study quality scoring, or AI-generated medical summaries. No site contact phone numbers, emails, or investigator names.
- Where the data comes from
- Sourced from the official ClinicalTrials.gov public API. The official record is the source of truth.
- Last refresh
- Last update posted Apr 1, 2025 · Synced Sep 4, 2026
Related: full search, browse by condition, browse by drug or therapy, browse by sponsor, browse by U.S. city.
Open the official record
The complete protocol, eligibility criteria, and contact information for NCT05548881 live on ClinicalTrials.gov.