Genetic evaluation of oocyte donors: recipient couple preferences and outcome of testing

Baker, Valerie L.; Rone, Heather M.; Adamson, G. David

doi:10.1016/j.fertnstert.2007.10.069

Cited by 8 publications

(4 citation statements)

References 11 publications

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“…Rapid adoption of comprehensive carrier testing is likely by in vitro fertilization clinics, where screening of sperm and oocyte donors has high clinical utility, lower counseling burden, and small incremental cost (55). Early adoption is also likely in medical genetics clinics, where counseling resources already exist, to screen individuals with a family history of inherited disease.…”

Section: Discussionmentioning

confidence: 99%

Carrier Testing for Severe Childhood Recessive Diseases by Next-Generation Sequencing

et al. 2011

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Of 7028 disorders with suspected Mendelian inheritance, 1139 are recessive and have an established molecular basis. Although individually uncommon, Mendelian diseases collectively account for ~20% of infant mortality and ~10% of pediatric hospitalizations. Preconception screening, together with genetic counseling of carriers, has resulted in remarkable declines in the incidence of several severe recessive diseases including Tay-Sachs disease and cystic fibrosis. However, extension of preconception screening to most severe disease genes has hitherto been impractical. Here, we report a preconception carrier screen for 448 severe recessive childhood diseases. Rather than costly, complete sequencing of the human genome, 7717 regions from 437 target genes were enriched by hybrid capture or microdroplet polymerase chain reaction, sequenced by next-generation sequencing (NGS) to a depth of up to 2.7 gigabases, and assessed with stringent bioinformatic filters. At a resultant 160× average target coverage, 93% of nucleotides had at least 20× coverage, and mutation detection/genotyping had ~95% sensitivity and ~100% specificity for substitution, insertion/deletion, splicing, and gross deletion mutations and single-nucleotide polymorphisms. In 104 unrelated DNA samples, the average genomic carrier burden for severe pediatric recessive mutations was 2.8 and ranged from 0 to 7. The distribution of mutations among sequenced samples appeared random. Twenty-seven percent of mutations cited in the literature were found to be common polymorphisms or misannotated, underscoring the need for better mutation databases as part of a comprehensive carrier testing strategy. Given the magnitude of carrier burden and the lower cost of testing compared to treating these conditions, carrier screening by NGS made available to the general population may be an economical way to reduce the incidence of and ameliorate suffering associated with severe recessive childhood disorders.

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Section: Discussionmentioning

confidence: 99%

Carrier Testing for Severe Childhood Recessive Diseases by Next-Generation Sequencing

et al. 2011

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“…family history, CF), recommended testing (e.g., fragile X, screening based on ethnic background), and optional testing (additional testing above the two previous categories), so that recipients can weigh the benefits and disadvantages of each additional layer of screening. As illustrated in a study by Baker et al (10), not all fertility patients desire the same level of genetic screening of their donor. Financial restrictions may play a role in this decision.…”

Section: The Way Forward: Different Optionsmentioning

confidence: 99%

Ethical quandaries around expanded carrier screening in third-party reproduction

Mertes

Lindheim

Pennings

2018

Fertility and Sterility

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Although current screening methods of gamete donors are capable of reducing the incidence of genetic anomalies in donor offspring below general population levels, targeted screening for a large number of conditions (expanded carrier screening or ECS) could be considered as part of the routine selection procedure for gamete donors. There are, however, important drawbacks to its practical implementation. Excluding all carriers of severe recessive monogenic pediatric disorders would disqualify virtually all donors, and other approaches negatively affect cost (and therefore access), present dilemmas in regard to disclosure of genetic findings, and/or overburden the intended parents. In all of the scenarios considered, adequate genetic counseling will be of central importance. Besides looking at benefits and drawbacks of possible ways of implementing ECS, we also examine whether a moral obligation exists to adopt ECS at all and on whose shoulders such an alleged obligation would rest: policymakers, medical staff at fertility clinics, sperm and egg banks, the intended parents? We argue that given the small risk reduction brought about by ECS, the possible negative effects of its implementation, and the absence of widespread preconception carrier screening in the general population, it is inconsistent to argue that there is a moral obligation to perform ECS in the context of donor conception. Finally, implications for the donors are discussed.

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“…49 It is somewhat difficult to define the appropriate and cost-effective genetic evaluation of the oocyte donor, particularly given the proliferation of available genetic tests. 50 Oocyte donation is not ethically or socially acceptable for all couples, and alternatives to oocyte donation would likely be welcomed by women with POI.…”

Section: Challenges With Oocyte Donationmentioning

confidence: 99%

Life Plans and Family-Building Options for Women with Primary Ovarian Insufficiency

Baker

2011

Semin Reprod Med

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Primary ovarian insufficiency (POI) compromises a woman's chance of conceiving with her own oocytes. Although biomarkers such as serum follicle-stimulating hormone, serum antimüllerian hormone, and assessment of antral follicle count by transvaginal ultrasound can give some general idea about ovarian activity and perhaps fertility potential, no marker will definitively predict if and when childbearing will be possible for women with POI. No medical therapy has yet been definitively proven to improve ovarian function and fertility for women with overt POI. Fertility preservation, with cryopreservation of ovarian tissue, oocytes, or embryos, can be considered for some women with POI if oocytes are retrievable and current childbearing is not desired, with the caveat that data regarding long-term safety and efficacy are not available for women with POI. Options with a high chance of success are oocyte donation, embryo donation, and adoption. Child-free living may be a reasonable choice for some women. It is beneficial for women with POI to hear all life-plan and family-building options presented in a balanced manner.

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Genetic evaluation of oocyte donors: recipient couple preferences and outcome of testing

Cited by 8 publications

References 11 publications

Carrier Testing for Severe Childhood Recessive Diseases by Next-Generation Sequencing

Carrier Testing for Severe Childhood Recessive Diseases by Next-Generation Sequencing

Ethical quandaries around expanded carrier screening in third-party reproduction

Life Plans and Family-Building Options for Women with Primary Ovarian Insufficiency

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