Background of this Survey

In August 2025, researchers in the United Kingdom published two papers describing results from a national program that offered both preimplantation genetic testing (PGT) and mitochondrial replacement therapy (MRT) to women with mitochondrial DNA (mtDNA) variants. You can find those papers below.


Mitochondrial Donation and Preimplantation Genetic Testing for mtDNA Disease | New England Journal of Medicine

Mitochondrial Donation in a Reproductive Care Pathway for mtDNA Disease | New England Journal of Medicine


Key points from the papers include:
  • PGT is the first-line option for most women with heteroplasmic mtDNA variants, since many will have embryos with little or no mtDNA mutation.
  • MRT (also called mitochondrial donation) may be considered for women with homoplasmic or very high heteroplasmy mtDNA variants, when PGT cannot produce a safe embryo.
  • Among study participants, 16 live births occurred after PGT and 8 after MRT.
  • Most babies had low or undetectable mtDNA mutations, although a few showed slightly higher levels, but still below disease threshold.
  • Both methods are risk-reduction, not risk-elimination strategies.
  • MRT is currently legal to use in clinical research in the UK and Australia, but not in the United States. While the process could be legalized via Congress, such clinical work would likely be years into the future.
Given this news, we – UMDF, Cure Mito, and LHON Collective -- wanted to take a moment to gauge your feelings on a variety of topics around specific reproductive techniques and the role patient advocacy groups should play in support, education, and advocacy in the family planning space.
____________________________________________________
MITOCHONDRIAL DISEASE FAMILY PLANNING SURVEY

This survey seeks to understand the knowledge, attitudes, and needs of individuals and families affected by mitochondrial disease when it comes to family planning decisions. Your responses will help patient advocacy groups better understand how to support and educate families considering these reproductive techniques, some of which are not currently available in the U.S. Responses will be kept confidential.

A note before we start:

Mitochondrial diseases can be caused by changes (mutations) in either mitochondrial DNA (mtDNA) or nuclear DNA (nDNA).

  • mtDNA is passed down only from the egg-providing parent.
  • nDNA comes from both parents.

Some reproductive options (such as mitochondrial replacement therapy / mitochondrial donation) apply only to conditions caused by mtDNA changes.
Below are some topics we’ll be asking about today:

Prenatal diagnostics: Medical tests during pregnancy to detect whether a developing baby may have mitochondrial disease:
  • Chorionic villus sampling (CVS): typically performed at 10–13 weeks of pregnancy, collects a small sample of placental tissue (chorionic villi).
  • Amniocentesis: typically performed at 15–20 weeks, collects amniotic fluid for testing. These tests allow parents to make informed choices during pregnancy.

Preimplantation genetic testing (PGT) / embryo selection - A process used with in-vitro fertilization (IVF) to test embryos before pregnancy begins. This allows selection of embryos without mitochondrial DNA changes or with lower risk, before transferring to the uterus.

Donor egg or sperm options - Using donated eggs or sperm to create a pregnancy. This allows one or both parents to reduce or avoid passing on mitochondrial disease. The child will be genetically related to one parent and not both.

Mitochondrial replacement therapy (MRT) - An advanced reproductive technique in which the nuclear DNA from parents is combined with healthy mitochondria from a donor egg. The child would carry genetic material from three people: the nuclear DNA from both parents and mitochondria from the donor. MRT is not yet legal in the United States.

Adoption - Choosing to raise a child who is not biologically related to the parents through a formal legal process. Adoption eliminates the risk of passing on mitochondrial disease biologically.

Question Title

* 1. What describes you? (select all that apply)

Question Title

* 2. Your age group:

Question Title

* 3. Your gender identity:

Question Title

* 4. Are you or your family affected by mitochondrial DNA (mtDNA)–related disease?

The next three questions about family and reproductive history may be sensitive to some respondents. Please answer only if you feel comfortable.

Question Title

* 5. Do you have biological children, living or deceased?

Question Title

* 6. Are you currently pregnant or planning to become pregnant soon?

Question Title

* 7. Do you plan to have (more) biological children in the future?

Question Title

* 8. State of residence:

Below are different reproductive techniques considered by individuals or families affected by mitochondrial DNA (mtDNA)–related disease.

For each, please help us understand:
  • What do you know about it?
  • How do you feel about it?
  • Do you think Patient Advocacy Groups should take the lead in education/advocacy?

Question Title

* 9. How would you rate your current level of familiarity or understanding of each of the following reproductive techniques?

  No Understanding Some Understanding Moderate Understanding Significant Understanding Full Understanding
Prenatal diagnostics (CVS, amniocentesis)
Preimplantation genetic testing (PGT) / embryo selection
Donor egg or sperm
Mitochondrial replacement therapy (MRT)
Adoption

Question Title

* 10. What is your interest in learning about each of the following reproductive techniques?

  None Some Neutral / unsure Significant Extremely
Prenatal diagnostics (CVS, amniocentesis)
Preimplantation genetic testing (PGT) / embryo selection
Donor egg or sperm
Mitochondrial replacement therapy (MRT)
Adoption

Question Title

* 11. What concerns, barriers or questions do you have about these reproductive techniques for mitochondrial disease (e.g., cost, access, ethics, legality, religious or personal beliefs)?

Question Title

* 12. For each reproductive option, tell us if you think Patient Advocacy Groups should play a role in education and advocacy in family planning?

  Yes, they should lead Yes, but alongside clinicians/researchers No, this should mainly be led by medical professionals Unsure
Prenatal diagnostics (CVS, amniocentesis)
Preimplantation genetic testing (PGT) / embryo selection
Donor egg or sperm
Mitochondrial replacement therapy (MRT)
Adoption

Question Title

* 13. Who do you most trust to provide information about reproductive techniques and mitochondrial disease? Please rank the following options from Most Trusted (at the top) to Least Trusted (at the bottom) by Dragging and Dropping the selections.

Question Title

* 14. At the beginning of this survey, we talked about MRT, also known as mitochondrial donation). Do you think MRT / mitochondrial donation should be legalized in the United States for families at risk of passing on mitochondrial disease?

Question Title

* 15. Is there anything else you would like to share about how patient advocacy groups can better support families considering these reproductive techniques?

T