Rare Gastroenterology News

Disease Profile

Twin to twin transfusion syndrome

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

-

ICD-10

O43.0

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

TTTS; Twin-to-twin transfusion syndrome; Fetofetal transfusion syndrome;

Categories

Blood Diseases; Immune System Diseases

Summary

Twin to twin transfusion syndrome (TTTS) is a rare condition that occurs during a twin pregnancy when blood moves from one twin (the “donor twin”) to the other (the “recipient twin”) while in the womb.[1] TTTS is a complication that specifically occurs in identical (monozygotic) twin pregnancies that share the same "egg" sac (monochorionic) that may or may not share the same amniotic sac (monoamniotic).[2] TTTS usually develops between 15 and 26 weeks of pregnancy.[3] The donor twin may be born smaller, with paleness, anemia, and dehydration. The recipient twin may be born larger, with redness, too much blood, and increased blood pressure, resulting in an increased risk for heart failure. Treatment may require repeated amniocentesis during pregnancy. Fetal laser surgery may be done to interrupt the flow of blood from one twin to the other. After birth, treatment depends on the infant's specific symptoms. The donor twin may need a blood transfusion to treat anemia. The recipient twin may need to have the volume of body fluid reduced. This may involve an exchange transfusion. Medications may be given to treat heart failure in the recipient twin.[1]

Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

    Learn more

    These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

    Where to Start

    • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
    • The Twin to Twin Transfusion Syndrome Foundation has an information page that lists their most commonly asked questions regarding TTTS. Click on the link above to view this information page.

      In-Depth Information

      • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
      • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
      • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
      • PubMed is a searchable database of medical literature and lists journal articles that discuss Twin to twin transfusion syndrome. Click on the link to view a sample search on this topic.

        References

        1. Twin-to-Twin Transfusion Syndrome. MedlinePlus. 9/26/2015; https://www.nlm.nih.gov/medlineplus/ency/article/001595.htm.
        2. Terence Zach. Twin-to-Twin Transfusion Syndrome. Medscape. Dec 30, 2015; https://emedicine.medscape.com/article/271752-overview.
        3. Twin to twin transfusion syndrome. Orphanet. February 2012; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95431.