Spring 2000 ~ Newsletter
Cystic Fibrosis and Reproduction
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Alternative Ways For Reproduction With Cystic Fibrosis
by Dr. Peter Kolletis
The most common features that threaten the health of cystic fibrosis (CF) patients are lung and pancreatic problems. Reproductive concerns are also important to patients, however, and CF can significantly affect a man's fertility potential. Nearly all men with CF will have congenital bilateral absence of the vas deferens (CBAVD). This means that the vas deferens is missing on both sides of the scrotum because it has failed to develop properly. The vas deferens is a small muscular tube that begins in the scrotum and continues up behind the bladder, eventually ending in the prostate. It carries sperm away from the testicle so they end up in the semen when a man ejaculates. (A common surgical procedure called a vasectomy is done for a man when he wishes to have a permanent form of birth control. This procedure involves removing a portion of the vas deferens.)Men with CF generally do not have a problem producing sperm. Rather because of the obstruction caused by the missing vas deferens the sperm cannot reach the semen. Some forms of obstruction are surgically correctable but this form of obstruction caused by the missing vas deferens is not surgically correctable. Men with CF and CBAVD therefore are unable to have their own biologic children through intercourse.It is now possible for a man with CF and CBAVD to father his own biologic children with intracytoplasmic sperm injection (ICSI). Intracytoplasmic sperm injection (ICSI) is the technique in which a single sperm is injected directly into an egg. This technique is the most advanced form of in vitro fertilization (where fertilization of the egg occurs outside the body.)To do ICSI, sperm must be retrieved from the male genital tract. The traditional procedure to do this is with microepididymal sperm aspiration (MESA). For this procedure sperm are obtained from the epididymis (a structure where sperm are stored above the testicle). The sperm that are obtained can then be frozen for future use and usually there are sufficient numbers to use for several attempts. The female partner receives hormone shots, which stimulate the ovaries to release multiple eggs. The eggs are then retrieved and injected with the sperm in the laboratory. Prior to this entire process, however, it is important that a team of fertility specialists evaluate both partners.At this time other medical issues can be addressed and the remainder of the fertility evaluation can be performed. There are important genetic issues to be addressed during this evaluation. Because about 1 in 25 Northern Europeans are carriers for the disease, both partners should be tested for CF. This is important information for the couple to have when considering having children. If the female partner is a carrier for CF then 50% of the offspring will have CF and the other 50% will be carriers. If the female partner is not a carrier then 50% of the offspring will be carriers and the chance of having a child with CF is less than 1%. If a male child that is a carrier is born then he will most likely have CBAVD and require similar fertility treatments. In fact there are men who have CBAVD but no other signs of CF. These men have at least a 70% chance of being carriers of CF when they undergo genetic testing. This condition can be thought of as a very mild form of CF with CBAVD being the only sign.Finally, as most health insurance does not cover ICSI the costs need to be discussed with the couple. The sperm retrieval procedure costs about $3,000 and ICSI costs about $10,000 per cycle. Since the sperm can be frozen it is unlikely that the sperm retrieval procedure would need to be repeated but each new cycle of ICSI would cost an additional $10,000.