Received February 02, 2017
Accepted August 04, 2017

Objective: To discuss the implications of Expanded genetic carrier screening for preconception purposes based on our own practice. Methods: One hundred and forty-three potential gamete donors aged 20-32 years old (xˉ= 24, 127 females and 16 males), signed informed consent and were selected according to REDLARA guidelines. Blood or saliva sample was examined by one of these genetic carrier screening: Genzyme screening for Cystic Fibrosis (CF), Fragile X and Spinal Muscular Atrophy (SMA); Counsyl Universal panel or Recombine Carrier Map. Results: Genotyping 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%). Conclusions: The rate of gamete donors identified as carriers for at least one condition was 41%, which supports the offering of Expanded carrier screening to our population. Studies in Latin American populations could help to 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. Patient, health providers, psychologists and legal professional’s education based on current scientific evidence; appropriate counseling about benefits, limitations, residual risk; generic informed consent and universal access are aspects to be considered.