XY Cord Study


What Is This Research About?

We are conducting a research study to better understand how differences in the number of X and Y chromosomes affect early development.

About 1 in 400 babies are born with a different number of X or Y chromosomes, sometimes called a sex chromosome variation. These variations can affect health and development, but we still don’t fully understand why or how.

The umbilical cord contains special cells called stem cells that researchers can grow in the laboratory to study how cells develop and function. Because the umbilical cord contains cells with the baby's DNA and is usually discarded after birth, it provides a valuable opportunity to learn more about sex chromosome variations.

What Does Participation Involve?

Participation is confidential and can be completed remotely, with no additional clinic visits or costs to families.

If you decide to participate, you will be asked to:

  • Meet with the research team by video to review the study and consent form.
  • Complete a questionnaire about your pregnancy.
  • Collect a small piece of the umbilical cord after birth and mail it to the research team using a kit we provide.

Eligibility

To be eligibile for this study, you must meet the following criteria.

You must:

  • Be located in the U.S.
  • Be at least 18 years old
  • Be currently pregnant
  • Have received prenatal identification of a sex chromosome aneuploidy (difference in number of chromosomes) through cell-free DNA screening, chorionic villus sampling, or amniocentesis
  • Have or be able to obtain a copy of your prenatal screening and/or test results

Interested in Participating?

If you are currently pregnant and prenatal screening has suggested that your baby may have Turner syndrome (45,X), Klinefelter syndrome (47,XXY), Trisomy X (47,XXX), XYY syndrome (47,XYY), or another sex chromosome variation, we invite you to complete the brief interest form below. Completing this form does not commit you to participating in the study.

A member of our research team will contact you to answer questions and provide more information.

Interest Form

 

 

Contact Us

To learn more, contact [email protected] to connect with our study coordinator.

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