P–539 The use of expanded carrier screening of gamete donors

2021 ◽  
Vol 36 (Supplement_1) ◽  
Author(s):  
M Payne ◽  
A B Skytte ◽  
J Harper
Keyword(s):  
Web Sites ◽  
Muscular Atrophy ◽  
Carrier Screening ◽  
Carrier Status ◽  
National Guidelines ◽  
Expanded Carrier Screening ◽  
Sperm Donors ◽  
International Panel ◽  
Registration Number ◽  
Alpha Thalassaemia

Abstract Study question What are the sperm and egg donor rejection rates after expanded carrier screening (ECS)? Summary answer Using an ECS panel looking at 46/47 genes, 17.6% of donors were rejected. What is known already The use of ECS is becoming commonplace in assisted reproductive technology, including testing of egg and sperm donors. Most national guidelines recommend rejection of donors if they are carriers of a genetic disease. If the use of ECS increases, there will be a decline in the number of donors available. Study design, size, duration A review of the current preconception ECS panels available to donors was carried out through an online search. The genetic testing results of donors from Cryos International were analysed to determine how many were rejected on the basis of the ECS. Participants/materials, setting, methods Data on gamete donors and their carrier status was provided by Cryos International, who screen donors using their own bespoke ECS panel. The ECS panels identified through the review were compared to the Cryos International panel and data. Main results and the role of chance A total of 16 companies and 42 associated ECS panels were reviewed. There were a total of 2673 unique disorders covered by the panels examined, with a mean of 329 disorders screened. None of these disorders were common to all panels. Cryos International screen 46 disorders in males and 47 in females. From 883 candidate donors, 17.6% (155/883) were rejected based on their ECS result. Carriers of alpha-thalassaemia represented the largest proportion of those rejected (19.4%, 30/155), then spinal muscular atrophy (15.5%, 24/155) and cystic fibrosis (14.8%, 23/155). Limitations, reasons for caution Panel information was found on company web sites and may not have been accurate. Wider implications of the findings: This study highlights the need for consistent EU regulations and guidelines which allow genetic matching of gamete donors to recipients, preventing the need to reject donors who are known carriers. A larger ECS panel would be most beneficial, however, this would not be viable without matching of donors and recipients. Trial registration number Not applicable

Outcome and experience of implementing spinal muscular atrophy carrier screening on sperm donors

2010 ◽  
Vol 94 (5) ◽  
pp. 1912-1914 ◽  
Author(s):  
Pamela Callum ◽  
Jennifer Iger ◽  
Marilyn Ray ◽  
Charles A. Sims ◽  
Rena E. Falk
Keyword(s):  
Spinal Muscular Atrophy ◽  
Muscular Atrophy ◽  
Carrier Screening ◽  
Sperm Donors

scholarly journals Assessment of Spinal Muscular Atrophy Carrier Status by Determining SMN1 Copy Number Using Dried Blood Spots

2020 ◽  
Vol 6 (2) ◽  
pp. 43
Author(s):  
Yogik Onky Silvana Wijaya ◽  
Jamiyan Purevsuren ◽  
Nur Imma Fatimah Harahap ◽  
Emma Tabe Eko Niba ◽  
Yoshihiro Bouike ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Copy Number ◽  
Muscular Atrophy ◽  
Autosomal Recessive Inheritance ◽  
Dried Blood Spots ◽  
Carrier Screening ◽  
Carrier Status ◽  
Essential Information ◽  
Blood Spots ◽  
Incurable Disease

Spinal muscular atrophy (SMA) is a common neuromuscular disease with autosomal recessive inheritance. The disease gene, SMN1, is homozygously deleted in 95% of SMA patients. Although SMA has been an incurable disease, treatment in infancy with newly developed drugs has dramatically improved the disease severity. Thus, there is a strong rationale for newborn and carrier screening for SMA, although implementing SMA carrier screening in the general population is controversial. We previously developed a simple, accurate newborn SMA screening system to detect homozygous SMN1 deletions using dried blood spots (DBS) on filter paper. Here, we modified our previous system to detect the heterozygous deletions of SMN1, which indicates SMA carrier status. The system involves a calibrator-normalized relative quantification method using quantitative nested PCR technology. Our system clearly separated the DBS samples with one SMN1 copy (carrier status with a heterozygous deletion of SMN1) from the DBS samples with two SMN1 copies (non-carrier status with no deletion of SMN1). We also analyzed DBS samples from SMA families, confirmed SMA in the affected children, and determined the carrier status of their parents based on the SMN1 copy number. In conclusion, our system will provide essential information for risk assessment and genetic counseling, at least for SMA families.

Expanded carrier screening for preconception reproductive risk assessment: Prevalence of carrier status in a Mexican population

2020 ◽  
Vol 40 (5) ◽  
pp. 635-643
Author(s):  
Carlos Hernandez‐Nieto ◽  
Tamar Alkon‐Meadows ◽  
Joseph Lee ◽  
Teresa Cacchione ◽  
Esther Iyune‐Cojab ◽  
...  
Keyword(s):  
Risk Assessment ◽  
Carrier Screening ◽  
Mexican Population ◽  
Carrier Status ◽  
Reproductive Risk ◽  
Expanded Carrier Screening

scholarly journals Clinical Implementation of Expanded Carrier Screening in Pregnant Women at Early Gestational Weeks: A Chinese Cohort Study

Genes ◽  
2021 ◽  
Vol 12 (4) ◽  
pp. 496
Author(s):  
Mengmeng Shi ◽  
Angeline Linna Liauw ◽  
Steve Tong ◽  
Yu Zheng ◽  
Tak Yeung Leung ◽  
...  
Keyword(s):  
At Risk ◽  
Pregnant Women ◽  
Carrier Screening ◽  
Sequential Testing ◽  
Carrier Status ◽  
Carrier Rate ◽  
Male Partners ◽  
Clinical Implementation ◽  
Clinical Value ◽  
Expanded Carrier Screening

Demands for expanded carrier screening (ECS) are growing and ECS is becoming an important part of obstetrics practice and reproductive planning. The aim of this study is to evaluate the feasibility of a small-size ECS panel in clinical implementation and investigate Chinese couples’ attitudes towards ECS. An ECS panel containing 11 recessive conditions was offered to Chinese pregnant women below 16 gestational weeks. Sequential testing of their partners was recommended for women with a positive carrier status. The reproductive decision and pregnancy outcome were surveyed for at-risk couples. A total of 1321 women performed ECS successfully and the overall carrier rate was 19.23%. The estimated at-risk couple rate was 0.83%. Sequential testing was performed in less than half of male partners. Eight at-risk couples were identified and four of them performed prenatal diagnosis. Our study demonstrated that a small-size ECS panel could yield comparable clinical value to a larger-size panel when the carrier rate of the individual condition is equal or greater than 1%. In addition, more than half of male partners whose wives were carriers declined any types of sequential testing possibly due to a lack of awareness and knowledge of genetic disorders. Genetic education is warranted for the better implementation of ECS.

scholarly journals Couples’ experiences with expanded carrier screening: evaluation of a university hospital screening offer

2021 ◽  
Author(s):  
Ivy van Dijke ◽  
Phillis Lakeman ◽  
Naoual Sabiri ◽  
Hanna Rusticus ◽  
Cecile P. E. Ottenheim ◽  
...  
Keyword(s):  
High Risk ◽  
Medical Center ◽  
Informed Choice ◽  
Carrier Screening ◽  
University Hospital ◽  
Structured Interviews ◽  
Expanded Carrier Screening ◽  
Post Test ◽  
Future Child ◽  
Clinically Significant

AbstractPreconception carrier screening offers couples the possibility to receive information about the risk of having a child with a recessive disorder. Since 2016, an expanded carrier screening (ECS) test for 50 severe autosomal recessive disorders has been available at Amsterdam Medical Center, a Dutch university hospital. This mixed-methods study evaluated the experiences of couples that participated in the carrier screening offer, including high-risk participants, as well as participants with a general population risk. All participants received genetic counselling, and pre- (n = 132) and post-test (n = 86) questionnaires and semi-structured interviews (n = 16) were administered. The most important reason to have ECS was to spare a future child a life with a severe disorder (47%). The majority of survey respondents made an informed decision (86%), as assessed by the Multidimensional Measure of Informed Choice. Among the 86 respondents, 27 individual carriers and no new carrier couples were identified. Turn-around time of the test results was considered too long and costs were perceived as too high. Overall, mean levels of anxiety were not clinically elevated. High-risk respondents (n = 89) and pregnant respondents (n = 13) experienced higher levels of anxiety before testing, which decreased after receiving the test result. Although not clinically significant, distress was on average higher for carriers compared to non-carriers (p < 0.0001). All respondents would opt for the test again, and 80.2% would recommend it to others. The results suggest that ECS should ideally be offered before pregnancy, to minimise anxiety. This study could inform current and future implementation initiatives of preconception ECS.

What women want: General population perspectives and access to preconception expanded carrier screening

2021 ◽  
Author(s):  
Liya Rabkina ◽  
Amy Swanson ◽  
Sharon Aufox ◽  
Lauren Propst ◽  
Morris Fiddler ◽  
...  
Keyword(s):  
General Population ◽  
Carrier Screening ◽  
Expanded Carrier Screening ◽  
Preconception Expanded Carrier Screening

scholarly journals Preconception expanded carrier screening: a focus group study with relatives of mucopolysaccharidosis type III patients and the general population

2021 ◽  
Author(s):  
Thirsa Conijn ◽  
Ivy van Dijke ◽  
Lotte Haverman ◽  
Phillis Lakeman ◽  
Frits A Wijburg ◽  
...  
Keyword(s):  
General Population ◽  
Focus Groups ◽  
Autosomal Recessive Disorder ◽  
Carrier Screening ◽  
Test Results ◽  
Focus Group Study ◽  
Expanded Carrier Screening ◽  
Preconception Expanded Carrier Screening ◽  
Mps Iii ◽  
Prospective Parents

AbstractPreconception expanded carrier screening (ECS) enables prospective parents to assess their risk of having a child with an autosomal recessive disorder. Knowledge on motivations, feelings, and considerations people have towards the offer and use of ECS is limited. To enrich the public and professional discussion on ECS implementation, this study explored the perspectives towards various aspects of ECS in seven focus groups compromising first- and second-degree relatives of MPS III patients (N=9, N=4, N=5, N=5) and members of the general Dutch population (N=6, N=7, N=5). The focus groups were audio recorded and the transcripts were qualitatively analyzed to identify themes. Both relatives of MPS III patients and participants from the general population supported offering ECS, in particular for severe, childhood-onset disorders. Important barriers identified for ECS were a lack of genetic knowledge and a perceived lack of personal relevance and awareness, as well as out-of-pocket costs of testing. The majority of participants would prefer full disclosure of individual test results instead of couple-based test results. Moreover, offering people a choice for the way of reporting was proposed. All participants agreed that more efforts, for example by governmental campaigns, should be made to increase awareness on the availability, potentials, and limitations of ECS. Educating prospective parents about ECS is essential for increasing awareness and informed decision making. This study provides valuable insights that can be used by governments and public health authorities when considering implementation of preconception ECS.

P–548 High-risk genetic matching on gamete donors: complete genes analysis or genotyping test?

2021 ◽  
Vol 36 (Supplement_1) ◽  
Author(s):  
M Molin. Romero ◽  
A Yoldi ◽  
M Gañán ◽  
P Navas ◽  
J L De. Pico ◽  
...  
Keyword(s):  
High Risk ◽  
Ethnic Origin ◽  
Carrier Screening ◽  
Reproductive Risk ◽  
Pathogenic Variants ◽  
Genetic Matching ◽  
Registration Number ◽  
Oocyte Donors ◽  
Legislative Measures

Abstract Study question What carrier screening test is better to reduce the risk of offspring being affected by recessive diseases when genetic matching is performed with gamete donors: complete or targeted genes analysis? Summary answer The use of complete genes analysis in the carrier screening of gamete donors reduces the risk of offspring being affected by recessive diseases. What is known already Legislative measures and scientific societies alike call for more research to be conducted into recessive diseases in gamete donors, in order to reduce reproductive risk. However, it is still unclear which genes should be studied and what type of data analysis, targeted or nontargeted, should be performed. Study design, size, duration This descriptive observational study of 923 oocyte donors and 895 semen donors was conducted from January 2017 to August 2020, at a private gamete bank. Participants/materials, setting, methods 1818 gamete donors screened by NGS and nontargeted analysis of the variants, the pathogenic variants detected were analysed to estimate the probability of high-risk genetic matching and to determine the results that would have been obtained if the three most commonly used genotyping tests for carriers of recessive diseases in ART had been applied. Main results and the role of chance The probability of high-risk genetic matching with gamete donation, screened by NGS and complete genes analysis, was 5.48%, versus the 0.57–2.8% that would have been obtained if the genotyping test had been applied. Of the 1739 total variants found, only 28.69% would have been detected by all three targeted tests considered and 45.66% of the variants would not have been detected by any of them. Limitations, reasons for caution The study was not based in the general population, was limited to a population of Mediterranean ethnic origin. In addition, our study only analysed 302 recessive diseases of the 1,300 plus that have been described. Wider implications of the findings: Our study highlights the considerable heterogeneity of the genotyping tests commonly used in ART, which present significant differences in their ability to detect pathogenic variants. Therefore, the use of genotyping tests for genetic matching is associated with a higher reproductive risk, compared to the use of complete genes analysis. Trial registration number Not applicable

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