Genetic Counseling in Reproductive Medicine

• Abu-Musa A, Nassar A, Usta I (2008) In vitro fertilization in two patients with Kartagener’s syndrome and infertility. Gynecol Obstet Investig 65(1):29–31

  Article  Google Scholar 

• Babul-Hirji R, Hirji R, Chitayat D (2021) Genetic counselling for infertile men of known and unknown aetiology. Transl Androl Urol 10(3):1479–1485

  Article  PubMed  PubMed Central  Google Scholar 

• Cioppi F, Rosta V, Krausz C (2021) Genetics of azoospermia. Int J Mol Sci 22(6):3264

  Article  CAS  PubMed  PubMed Central  Google Scholar 

• De Souza D, Faucz FR, Pereira-Ferrari L, Sotomaior VS, Raskin S (2018) Congenital bilateral absence of the vas deferens as an atypical form of cystic fibrosis: reproductive implications and genetic counselling. Andrology 6(1):127–135

  Article  PubMed  Google Scholar 

• Harris SE, Chand AL, Winship IM, Gersak K, Aittomäki K, Shelling AN (2002) Identification of novel mutations in FOXL2 associated with premature ovarian failure. Mol Hum Reprod 8(8):729–733

  Article  CAS  PubMed  Google Scholar 

• Hyde KJ, Schust DJ (2015) Genetic considerations in recurrent pregnancy loss. Cold Spring Harb Perspect Med 5(3):a023119

  Article  PubMed  PubMed Central  Google Scholar 

• Kim WB, Jeong JY, Doo SW, Yang WJ, Song YS, Lee SR, Kim DW (2012) Myotonic dystrophy type 1 presenting as male infertility. Korean J Urol 53(2):134–136

  Article  PubMed  PubMed Central  Google Scholar 

• Martin JR, Arici A (2008) Fragile X and reproduction. Curr Opin Obstet Gynecol 20(3):216–220

  Article  PubMed  Google Scholar 

• O’Daniel JM, Lee K (2012) Whole-genome and whole-exome sequencing in hereditary cancer: impact on genetic testing and counseling. Cancer J 18(4):287–292

  Article  PubMed  Google Scholar 

• Resta R, Biesecker BB, Bennett RL, Blum S, Estabrooks Hahn S, Strecker MN, Williams JL (2006) A new definition of genetic counseling: National Society of genetic counselors’ task force report. J Genet Couns 15:77–83

  Article  PubMed  Google Scholar 

• Sha YW, Ding L, Li P (2014) Management of primary ciliary Dyskinesia/Kartagener’s syndrome in infertile male patients and current progress in defining the underlying genetic mechanism. Asian J Androl 16(1):101

  Article  PubMed  Google Scholar 

• Shao Y, Li J, Lu J, Li H, Zhu Y, Jiang W, Yan J (2020) Clinical outcomes of preimplantation genetic testing (PGT) application in couples with chromosomal inversion, a study in the Chinese Han population. Reprod Biol Endocrinol 18:1–9

  Article  Google Scholar 

• Simoni M, Bakker E, Krausz C (2004) EAA/EMQN best practice guidelines for molecular diagnosis of y-chromosomal microdeletions. State of the art 2004. Int J Androl 27(4):240–249

  Article  CAS  PubMed  Google Scholar 

• Van Assche ELVIRE, Bonduelle M, Tournaye H, Joris H, Verheyen G, Devroey P, Liebaers I (1996) Cytogenetics of infertile men. Hum Reprod 11(suppl_4):1–26

  Article  PubMed  Google Scholar 

• van der Steen SL, Houtman D, Bakkeren IM, Galjaard RJH, Polak MG, Busschbach JJ, Riedijk SR (2019) Offering a choice between NIPT and invasive PND in prenatal genetic counseling: the impact of clinician characteristics on patients’ test uptake. Eur J Hum Genet 27(2):235–243

  Article  PubMed  Google Scholar 

• Voicu DI, Munteanu O, Gherghiceanu F, Arsene LV, Bohiltea RE, Gradinaru DM, Cirstoiu MM (2020) Maternal inherited thrombophilia and pregnancy outcomes. Exp Ther Med 20(3):2411–2414

  CAS  PubMed  PubMed Central  Google Scholar 

• Volk A, Conboy E, Wical B, Patterson M, Kirmani S (2015) Whole-exome sequencing in the clinic: lessons from six consecutive cases from the clinician's perspective. Mol Syndromol 6(1):23–31

  Article  CAS  PubMed  PubMed Central  Google Scholar 

• Wieacker P, Steinhard J (2010) The prenatal diagnosis of genetic diseases. Deutsches Aerzteblatt Int 107(48):857

  Google Scholar 

• Yahaya TO, Oladele EO, Anyebe D, Obi C, Bunza MDA, Sulaiman R, Liman UU (2021) Chromosomal abnormalities predisposing to infertility, testing, and management: a narrative review. Bull Natl Res Centre 45(1):1–15

  Article  Google Scholar 

• Yatsenko SA, Rajkovic A (2019) Genetics of human female infertility. Biol Reprod 101(3):549–566

  Article  PubMed  PubMed Central  Google Scholar 

Download references