The Kretchmar family researched sperm banks and donors for over a year before they chose a man who they were told had been tested for a variety of genetic conditions. The man’s sperm was stored at the New England Cryogenic Center in Boston.
Mrs. Kretchmar became pregnant using artificial insemination and gave birth to a boy the Kretchmars named Jaxon in April 2010. Doctors suspected there was a problem when the baby failed to have a bowel movement in the first day or so after birth and eventually Jaxon was rushed to surgery. The doctors discovered that the baby had signs of cystic fibrosis, reports The New York Times
Genetic testing showed that Mrs. Kretchmar was a carrier for the disease. But it also found that the donor’s sperm, which had been donated decades earlier, also carried the gene.
The case is not unique. Illnesses such as heart defects, spinal muscular atrophy, neurofibromatosis type 1, and fragile X syndrome, the most common form of mental retardation in boys, have been found in hundreds of documented cases across the country. Wendy Kramer, founder of the Donor Sibling Registry, believes there are thousands more such cases.
Donated eggs also pose risks, but the odds are much greater with sperm donation because The Food and Drug Administration requires sperm donors be tested for communicable diseases, not genetic diseases.
The American Society for Reproductive Medicine urges sperm banks to test donors in accordance with suggested guidelines, but compliance is not obligatory. The sperm is not generally tested, and genetic testing practices vary widely across the country.
Critics of the fertility industry want mandatory and consistent medical and genetic testing of all donors, but lax record-keeping makes it difficult for sperm banks to warn families and donors when genetic illness are discovered.
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