Charles A. Sims

Outcome and experience of implementing spinal muscular atrophy carrier screening on sperm donors

Spinal muscular atrophy (SMA) carrier screening was performed on 277 active semen donors and new semen donor applicants; five men tested positive as carriers for SMA. The risk for specific medical problems in donor offspring can be significantly reduced by incorporating new genetic tests, such as spinal muscular atrophy carrier screening, into donor screening practices; however, future efforts should focus on communicating the limitations of genetic screening to donor gamete recipients and on the development of guidelines for implementing new genetic tests on donors.

Spinal muscular atrophy (SMA) after conception using gametes from anonymous donors: recommendations for the future.

OBJECTIVE To discuss the diagnosis of spinal muscular atrophy in a child conceived using donor gametes. DESIGN None. SETTING None. PATIENT(S) Offspring of gamete donors. INTERVENTION(S) None. MAIN OUTCOME MEASURE(S) None. RESULT(S) A child conceived using gametes from anonymous sperm and ova donors was diagnosed with spinal muscular atrophy type 1. CONCLUSION(S) Gamete donor facilities are not required to perform extensive genetic testing on their donors; however, the well-being of the children conceived through assisted reproductive technologies should be a primary objective of reproductive medicine. The risk for specific medical problems in donor offspring can be significantly reduced by incorporating carrier screening for common, severe disorders such as spinal muscular atrophy into donor screening practices. Future efforts should focus on communicating the limitations of genetic screening to donor gamete recipients and educating them about their reproductive options.

Management of the risks for inherited disease in donor-conceived offspring.

OBJECTIVE To illustrate the burden of inherited disease on donor-conceived offspring based on mode of inheritance and to provide guidance on methods of risk reduction. DESIGN An 8.5-year retrospective review of outcome reports and donor management to summarize medical risks to donor-conceived offspring that presented after the sperm donors were qualified for participation in the donor program. SETTING Not applicable. PATIENT(S) None. INTERVENTION(S) None. MAIN OUTCOME MEASURE(S) Description of our experience with newly identified medical risks in donor-conceived offspring as well as how this information was ascertained and managed. RESULT(S) More than half of the indications to restrict donor specimen distribution were due to multifactorial disorders. Approximately one third of the restrictions involved autosomal recessive disorders. The remainder of the restrictions were due to the other indications, including autosomal dominant disorders. CONCLUSION(S) The risks for multifactorial disorders or undiagnosed autosomal dominant disease cannot be significantly reduced or eliminated with routine donor screening procedures. Ongoing risk assessment is essential to identify new genetic risks for autosomal dominant and multifactorial disorders. These assessments require an investment of resources and genetics professionals in the long-term management of changing health information as well as collaboration among gamete facilities, recipients, donors, and their health care providers.

Development and validation of CryoCocoons™ for the safe, aseptic storage of sperm cryovials

Most sperm banks in the United States continue to process and freeze samples in “open” cryovial devices. Yet, due to growing European attention to the long-term cryostorage of gametes and embryos in an aseptic manner, we evaluated the possibility of repackaging cryovials into a sealed (i.e. closed) “CryoCocoon™”container, when distributing donor sperm vials to countries with aseptic container cryostorage restrictions. We conducted a series of controlled, prospective experiments to validate the efficacy of the CryoCocoon™ concept. Cryovials were securely repackaged within 45 s under ambient conditions while maintaining sub −100°C temperatures, before refreezing, without adversely influencing post-thaw motility. However, unique challenges in terms of container buoyancy, cryocane storage and labeling condensation had to be overcome. Although not particularly ideal to the long-term storage of pathogen-free donor sperm vials, CryoCocoons™ constitute a novel approach to the creation of an aseptic storage contai...