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

Callum, Pamela; Urbina, María Teresa; Falk, Rena E.; Álvarez-Díaz, Jorge Alberto; Benjamin, Isaac; Sims, Charles A.

doi:10.1016/j.fertnstert.2009.10.039

Cited by 8 publications

(9 citation statements)

References 5 publications

(1 reference statement)

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“…Carrier screening for SMA performed on both donors after baby diagnosis, confirmed that they carried a copy of the SMN1 deletion mutation. The child death occurred due to respiratory failure before reaching 2 years of age ( Callum et al ., 2010 ). The incidence of SMA is approximately 1 in 6,000 to 1 in 10,000 live births, and the disease is reported to be the leading genetic cause of infant death ('Committee Opinion No.…”

Section: Discussionmentioning

confidence: 99%

“…691: Carrier Screening for Genetic Conditions', 2017). It is a rare but high impact disease, due to the early onset of symptoms, significant suffering, and lack of available treatment ( Callum et al , 2010 ).…”

Section: Discussionmentioning

confidence: 99%

“…In 2010, when the IVF treatment was done, ASRM and REDLARA had established guidelines for minimum genetic screening for gamete donor applicants (1); however, SMA carrier screening was not included. General population carrier screening for SMA was controversial due to conflicting guidelines by the ACMG (2008) and by the ACOG at the time (2009) ( Callum et al , 2010 ).…”

Section: Discussionmentioning

confidence: 99%

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Expanded carrier screening in gamete donors of Venezuela

Urbina¹,

Benjamin²,

Medina³

et al. 2017

JBRA Assisted Reproduction

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ObjectiveTo discuss the implications of expanded genetic carrier screening for preconception purposes based on our practice.MethodsOne hundred and forty-three potential gamete donors aged 20-32 years old (µ=24, 127 females and 16 males), signed informed consent forms and were selected according to the REDLARA guidelines. Blood or saliva samples were examined by one of these genetic carrier screening methods: Genzyme screening for Cystic Fibrosis (CF), Fragile X and Spinal Muscular Atrophy (SMA); Counsyl Universal panel or Recombine Carrier Map.ResultsGenotyping results for all donors were analyzed; 41% (58/143) of donors were identified as carriers for at least one condition. We found a carrier frequency of 1/24 for CF, 1/72 for SMA and 0/120 for Fragile X syndrome. Among the high-impact most prevalent conditions in our study (Carrier Map group) were: 21-Hydroxilase-Deficient Congenital Nonclassical Adrenal Hyperplasia (1/8), Factor V deficiency (1/12), Hemochromatosis: Type 1: HFE Related (1/12), Short Chain Acyl-CoA (1/14) and MTHFR deficiency 1/3 (39%).ConclusionsThe rate of gamete donors identified as carriers of at least one condition was 41%, which supports the offering of expanded carrier screening to our population. Studies in Latin American populations could help customize screening panels. The ART patient population has a unique opportunity to be offered expanded carrier screening and appropriate counseling, to make its best-informed decisions.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Expanded carrier screening in gamete donors of Venezuela

Urbina¹,

Benjamin²,

Medina³

et al. 2017

JBRA Assisted Reproduction

Self Cite

View full text Add to dashboard Cite

show abstract

“…In recent years, regular suggestions have been made to screen for specific prevalent genetic diseases or just to control the spreading of genetic diseases by decreasing the number of offspring per donor (American Association of Tissue Banks, 2008; Callum et al, 2010Callum et al, , 2012Hansen, 2012;JydskeVestkysten, 2012;Maron et al, 2009;Prior, 2008;Watson et al, 2004). Some centres already systematically screen all donors for certain mutations .…”

Section: Propagation Of Genetic Diseasesmentioning

confidence: 99%

Evolving minimum standards in responsible international sperm donor offspring quota

Janssens

Thorn²,

Castilla

et al. 2015

Reproductive BioMedicine Online

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An international working group was established with the aim of making recommendations on the number of offspring for a sperm donor that should be allowable in cases of international use of his sperm. Considerations from genetic, psychosocial, operational and ethical points of view were debated. For these considerations, it was assumed that current developments in genetic testing and Internet possibilities mean that, now, all donors are potentially identifiable by their offspring, so no distinction was made between anonymous and non-anonymous donation. Genetic considerations did not lead to restrictive limits (indicating that up to 200 offspring or more per donor may be acceptable except in isolated social-minority situations). Psychosocial considerations on the other hand led to proposals of rather restrictive limits (10 families per donor or less). Operational and ethical considerations did not lead to more or less concrete limits per donor, but seemed to lie in-between those resulting from the aforementioned ways of viewing the issue. In the end, no unifying agreed figure could be reached; however the consensus was that the number should never exceed 100 families. The conclusions of the group are summarized in three recommendations.

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“…Cada vez con más frecuencia, en la literatura aparecen reportes de condiciones genéticas hereda-das de forma involuntaria de donantes de gametos a parejas receptoras en centros de reproducción asistida (5). Varios autores y en diferentes escenarios han planteado preguntas críticas sobre la viabilidad de las pruebas genéticas en donantes, sus costos e implicaciones éticas (6)(7)(8). El uso actual del diagnóstico genético en donantes de gametos es aún inconsistente porque no existe una reglamentación clara para la detección de estas anomalías.…”

Section: Introductionunclassified

Pertinencia del tamizaje genético en donantes de gametos

Serrano-Serrano¹

2012

Rev. Colomb. Obstet. Ginecol.

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Introducción: una preocupación importante para las parejas sometidas a tratamientos de reproducción asistida con gametos donados es la posibilidad de adquirir enfermedades infecciosas o la transmisión de enfermedades genéticas a la descendencia. Existen reportes, basados en la legislación de cada país y en la experiencia de cada centro, que hacen referencia al tipo de evaluación genética, infecciosa y psicológica que deben tener los donantes de gametos. En Colombia no existe una ley específica sobre las técnicas de reproducción asistida y la donación de gametos. Tampoco existe claridad acerca de si los donantes deberían ser evaluados genéticamente y con qué tipo de pruebas.Objetivo: el objetivo de este documento es hacer una reflexión sobre la pertinencia de evaluar genéticamente a los donantes de gametos a partir de la caracterización de las principales condiciones genéticas prevalentes en nuestra población, la alteración genética de base y el método actual de diagnóstico genético.Conclusión: se concluye que es necesario desarrollar un protocolo claro a nivel nacional y en los centros de reproducción asistida a cerca de la evaluación genética en los pacientes donantes de gametos.

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

Cited by 8 publications

References 5 publications

Expanded carrier screening in gamete donors of Venezuela

Expanded carrier screening in gamete donors of Venezuela

Evolving minimum standards in responsible international sperm donor offspring quota

Pertinencia del tamizaje genético en donantes de gametos

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