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6 The patient with cystic fibrosis

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Tarek El‐Toukhy

Assisted Conception Unit, Guy’s and St Thomas’ Hospital, London, UK

Case History 1: A couple (both 28 years old) consulted their general practitioner because of a 2‐year history of infertility. Semen analysis showed azoospermia on two occasions. Therefore, the couple were referred to the local fertility center, where the male partner was found to be a “carrier” of cystic fibrosis.

Case History 2: A 32‐year‐old woman and her 35‐year‐old husband were seen in the regional genetics center for genetic counseling after their 5‐month‐old daughter had recently died from acute pneumonia. The daughter was diagnosed with cystic fibrosis at age 2 weeks. Both parents were confirmed carriers of the delta‐F508 cystic fibrosis mutation.

Assisted Reproduction Techniques

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