ArticleJBRA assisted reproduction2017
Expanded carrier screening in gamete donors of Venezuela.
Article in JBRA assisted reproduction, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
2 citing papers in PubMed, 4 citations in OpenAlex.
- Comparative genetic analysis of blood and semen samples in sperm donors from Hunan, China.Annals of medicine · 2025Article
- The use of expanded carrier screening of gamete donors.Human reproduction (Oxford, England) · 2021Review
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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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