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Pre-implantation genetic diagnosis in oligozoospermia 

Pre-implantation genetic diagnosis in oligozoospermia
Pre-implantation genetic diagnosis in oligozoospermia

Helen Bickerstaff

, and Srividya Seshadri

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date: 23 June 2021

Infertility is a common cause for gynaecological consultation, with male factor infertility the most common cause. This case illustrates the importance of thorough history taking and examination in any couple presenting with infertility. In this case a clinical diagnosis of congenital unilateral absence of the vas deferens prompted genetic testing of both partners, and identified the risk of a pregnancy affected by cystic fibrosis. Intracytoplasmic sperm injection (ICSI) followed by prenatal genetic diagnosis (PGD) of the resulting embryo allowed the couple, both carriers of a mutation of the Cystic Fibrosis Transmembrane Regulator (CFTR) gene, to achieve a successful healthy pregnancy.

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