Female cystic fibrosis mutation carriers and assisted reproductive technology: does carrier status affect reproductive outcomes?

VanWort, T.A.; Lee, Joseph A.; Karvir, H.; Whitehouse, M.C.; Beim, P. Yurttas; Copperman, A.B.

doi:10.1016/j.fertnstert.2014.07.1234

Cited by 5 publications

(5 citation statements)

References 61 publications

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“…Furthermore, CFTR variants were more commonly detected in males compared with females, even though the difference did not reach statistical significance ( P = .46). The CF carrier status within our study was consistent with prior published reports of CF carrier prevalence on infertile male and females . The overall CF prevalence in our population is higher than the prevalence showed by Sugarman et al who found a 2.3% CFTR carrier frequency in Hispanic populations, although the population analyzed in that study consisted a broad U.S. based Hispanic residents and did not assess native Mexican Hispanics .…”

Section: Discussionsupporting

confidence: 91%

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

et al. 2020

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Objective: Genetic carrier screening has the potential to identify couples at risk of having a child affected with an autosomal recessive or X-linked disorder. However, the current prevalence of carrier status for these conditions in developing countries is not well defined. This study assesses the prevalence of carrier status of selected genetic conditions utilizing an expanded, pan-ethnic genetic carrier screening panel (ECS) in a large population of Mexican patients.Methods: Retrospective chart review of all patients tested with a single ECS panel at an international infertility center from 2012 to 2018 were included, and the prevalence of positive carrier status in a Mexican population was evaluated.Results: Eight hundred five individuals were analyzed with ECS testing for 283 genetic conditions. Three hundred fifty-two carriers (43.7%) were identified with 503 pathogenic variants in 145 different genes. Seventeen of the 391 participating couples (4.34%) were identified as being at-risk couples. The most prevalent alleles found were associated with alpha thalassemia, cystic fibrosis, GJB2 nonsyndromic hearing loss, biotinidase deficiency, and familial Mediterranean fever.Conclusion: Based on the prevalence and severity of Mendelian disorders, we recommend that couples who wish to conceive regardless of their ethnicity background explore carrier screening and genetic counseling prior to reproductive medical treatment.

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Section: Discussionsupporting

confidence: 91%

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

et al. 2020

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“…The oocytes were then fertilized using anonymous or designated donor sperm and cultured as per the standards of our clinic. [8][9] Partner receiving embryo(s) Partners who received the embryo underwent uterine preparation, transvaginal sonographic monitoring, hormonal monitoring, and ultrasound guided (fresh or frozen) embryo transfer. Thereafter, a pregnancy test (Beta Human Chorionic Gonadotropin), a pregnancy ultrasound (fetal sac, yolk sac, fetal heartbeat, etc.)…”

Section: Partner Sharing Oocyte(s)mentioning

confidence: 99%

“…and a 9-month follow-up was administered per the study site's standards of care. [8][9] Western Institutional Review Board approval was obtained to analyze de-identified data for this nonrandomized observational study.…”

Section: Partner Sharing Oocyte(s)mentioning

confidence: 99%

Female Couples Undergoing IVF with Partner Eggs (Co-IVF): Pathways to Parenthood

et al. 2015

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Our analysis presents descriptive data and sheds realistic expectations for Co-IVF couples. Co-IVF cycles can result in a shared experience with regard to the process of creating a family, while preserving a female couple's desire for dual partner participation in the gestational process. We encourage centers treating female couples to consider departing from traditional nomenclature of "donors" and "recipients" and adopting the nomenclature "Co-IVF" to describe the modern understanding of the shared experience. Even if female couples have experienced prior unsuccessful cycles, couples ultimately retain an excellent prognosis for reproductive success using Co-IVF.

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“…In the same perspective, as the patients with homozygous DF508 mutation status have more respiratory difficulties, we wondered whether these patients had a worse prognosis in ART and a worse response in IVF. In the literature, only one study ( 26 ) has investigated the impact of CFTR gene mutations on the prognosis in ART. The authors reported no significant difference between the CFTR mutation carrier group and non-carrier patients in terms of implantation and pregnancy rates.…”

Section: Discussionmentioning

confidence: 99%

The Prognosis of ART Is Not Altered in Cystic Fibrosis Women: A Case-Report Study

et al. 2022

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Research QuestionUnlike in men, a very limited number of studies were focused on the specificity of ART management of cystic fibrosis (CF) in women. The purpose of this study was to determine the causes of infertility in patients, the appropriate ART treatment, and their prognosis in terms of pregnancy.DesignWe conducted a multicentre analytical case-control study including CF women who were age-matched to non-CF women. We reported the causes of infertility, the ART management type and pregnancy outcomes.Results17 cases were compared to 34 controls. There was no significant difference between the groups concerning cause infertility. There was a non-statistically significant trend with a lower antral follicle count in CF compared to controls (19.5 versus 26.8, p=0.08). IUI seemed to be as successful as IVF/ICSI in CF as opposed to controls where the IVF/ICSI was the most effective (in CF group for HCG >100 UI/L: 38.8% vs. 36.8%, p=0.4175). There were more embryos obtained in CF than in controls (3.1 versus 1.6, p=0.02). The number of oocytes and embryos obtained and pregnancy outcomes remained similar between DF508 homozygous group and others CFTR mutations group. The results of ART procedures and pregnancy evolution were not influenced by FEV1. ConclusionIn absence of any other pathology, IUI may be first option for CF women. If insemination fails, IVF with a low dose of gonadotropins may be more appropriate to prevent the risk of hyperstimulation syndrome. FEV1 and genetic do not seem to be contributing factors in the prognosis of ART.

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Female cystic fibrosis mutation carriers and assisted reproductive technology: does carrier status affect reproductive outcomes?

Cited by 5 publications

References 61 publications

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

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

Female Couples Undergoing IVF with Partner Eggs (Co-IVF): Pathways to Parenthood

The Prognosis of ART Is Not Altered in Cystic Fibrosis Women: A Case-Report Study

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