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.


METHODS
None.


METHODS
None.


METHODS
Offspring of gamete donors.


METHODS
None.


METHODS
None.


RESULTS
A child conceived using gametes from anonymous sperm and ova donors was diagnosed with spinal muscular atrophy type 1.


CONCLUSIONS
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.
Callum
Pamela
P
Genetics Department, California Cryobank, 11915 La Grange Avenue, Los Angeles, California 90025, USA. pcallum@cryobank.com
Urbina
Maria Teresa
MT
Falk
Rena E
RE
Alvarez-Diaz
Jorge A
JA
Benjamin
Isaac
I
Sims
Charles A
CA
D005260:Female; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D006801:Humans; D007223:Infant; D007247:Infertility, Female / Q000628:therapy*; D008297:Male; D008875:Middle Aged; D011247:Pregnancy; D020554:Sperm Injections, Intracytoplasmic; D013094:Spermatozoa; D014897:Spinal Muscular Atrophies of Childhood / Q000175:diagnosis / Q000235:genetics* / Q000517:prevention & control; D055533:Survival of Motor Neuron 1 Protein / Q000235:genetics; D014019:Tissue Donors; D055815:Young Adult
C526471:SMN1 protein, human; D055533:Survival of Motor Neuron 1 Protein