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Genetic counseling for the 22q11.2 deletion
Donna M McDonald-McGinn1, Elaine H Zackai
1Division of Human Genetics, Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA. mcginn@email.chop.edu
Advances in palliative care allow children with 22q11.2 deletion syndrome to reach adulthood. This necessitates increased genetic counseling access for reproductive-aged individuals and their families.
Area of Science:
- Genetics
- Medical Genetics
- Reproductive Health
Background:
- 22q11.2 deletion syndrome is increasingly compatible with adult survival due to medical advances.
- Increased survival necessitates proactive reproductive health management and genetic counseling.
- Primary care physicians play a key role in identifying at-risk individuals.
Purpose of the Study:
- To highlight the need for enhanced genetic counseling for adults with 22q11.2 deletion syndrome.
- To inform healthcare providers about their role in identifying and referring patients.
- To outline reproductive options for affected individuals and families.
Main Methods:
- Review of current understanding of 22q11.2 deletion syndrome genetics.
- Analysis of the implications of increased survival on reproductive fitness.
- Overview of available genetic counseling and reproductive technologies.
Main Results:
- Adult survival with 22q11.2 deletion syndrome is rising.
- Reproductive counseling is crucial for affected individuals.
- Genetic counseling can identify recurrence risks and guide family planning.
Conclusions:
- Enhanced genetic counseling access is vital for adults with 22q11.2 deletion syndrome.
- Healthcare providers should be aware of the syndrome and referral pathways.
- Prenatal and preimplantation genetic options exist for managing reproductive risks.
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