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

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.