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. 2023 Jun 22;27(2):180-184.
doi: 10.5935/1518-0557.20220012.

Genetic counseling and carrier screening in candidates for gamete donation at a Portuguese center

Célia Azevedo Soares  1   2 , Natália Tkachenko  1 , Emídio Vale-Fernandes  2   3 , Márcia Barreiro  3 , Maria Abreu  1 , Cláudia Falcão Reis  1   4 , Gabriela Soares  1   5 , Ana Maria Fortuna  1   2 , Ana Rita Soares  1
Affiliations

Genetic counseling and carrier screening in candidates for gamete donation at a Portuguese center

Célia Azevedo Soares et al. JBRA Assist Reprod. .

Abstract

Objective: Genetic counseling and carrier screening are part of the gamete donation process by healthy individuals. We aim to review the findings of genetic counseling and carrier screening of a cohort of candidates at our public gametes bank.

Methods: Thirty-four male and 64 female candidates had genetic counseling with a medical geneticist before donation. Of these, one female candidate voluntarily dropped-out. Thirty-four males and 63 females performed karyotype and screening for the more common pathogenic variants for CFTR-related cystic fibrosis and spinal muscular atrophy (SMN1) in the Portuguese population. In addition, all females also performed Fragile X expansion screening (FMR1). Thirty candidates with known or assumed African ancestry performed hemoglobinopathies screening.

Results: Six candidates were definitely or temporarily withheld from the donation process given their family or personal history that required further investigation. Of 97 candidates tested, 16.5% presented anomalous laboratory results (16/97): ten candidates were carriers for an autosomal recessive disorder - cystic fibrosis (5/97), sickle cell anemia (3/30), and spinal muscular atrophy (2/97). One female was an FMR1 pre-mutation carrier (1/63). One female candidate presented with triple X mosaicism: 47,XXX[2]/46,XX[50]. Two candidates presented with chromosomal instability of unknown origin. In one candidate, a mosaic for the Philadelphia chromosome was detected, revealing the diagnosis of chronic myeloid leukemia.

Conclusions: From a cohort of 97 candidates, 21.7% had a family/personal history or an anomalous laboratory result that required additional genetic counseling, stressing the importance of performing pre-donation genetic counseling in this population.

Keywords: carrier screening; gamete donation; genetic counseling.

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Figures

Figure 1
Figure 1
Standard operation procedures for the genetic counselling and carrier screening at our unit from January 2019 to March 2020.
Figure 2
Figure 2
Findings in the genetic counselling and carrier screening in our cohort.
See this image and copyright information in PMC

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