ArticleMedizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V2021
Genetic counseling and diagnostic guidelines for couples with infertility and/or recurrent miscarriage.
Article in Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed.
- From genes to generations: genetic evaluation and counseling for infertility and pregnancy loss.Frontiers in genetics · 2026Article
- Review
- Prevalence of HSV-1/HSV-2 and CMV Infections in Infertile Men and Their Impact on Sperm Parameters: A Cross-Sectional Study in Iran.Health science reports · 2025Article
- Genetics of female and male infertility.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2024Article
- The piRNA-pathway factor FKBP6 is essential for spermatogenesis but dispensable for control of meiotic LINE-1 expression in humans.American journal of human genetics · 2022Article
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Authors and funding
3 authors.
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Abstract
Around 10-15 % of all couples are infertile, rendering infertility a widespread disease. Male and female causes contribute equally to infertility, and, depending on the definition, roughly 1 % to 5 % of all couples experience recurrent miscarriages. In German-speaking countries, recommendations for infertile couples and couples with recurrent miscarriages are published as consensus-based (S2k) Guidelines by the "Arbeitsgemeinschaft der Wissenschaftlichen Medizinischen Fachgesellschaften" (AWMF). This article summarizes the current recommendations with regard to genetic counseling and diagnostics. Prior to genetic counseling, the infertile couple must undergo a gynecological/andrological examination, which includes anamnesis, hormonal profiling, physical examination and genital ultrasound. Women should be examined for the presence of hyperandrogenemia. Men must further undergo a semen analysis. Based on the overall results, hyper- or hypogonadotropic hypogonadism can be diagnosed in both sexes. Female genetic diagnostics for infertility comprise karyotyping, analysis of the
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