diagnosis guide
Directory Content
Genetic Abnormalities—Congenital Bilateral Absence of the Vas Deferens (CBAVD) (Men)
What It Is
Men with CBAVD are born without any vas deferens—the tubes which lead from each testicle to the penis—making it impossible for sperm to travel to the urethra (the tube that expels the sperm through the penis).
Who Gets It
Men.
Symptoms
Men may not be aware that they have this condition until they try to father a child.
How It's Diagnosed/Detected
The inability to conceive may be the first indication that a man may have an infertility problem such as bilateral absence of the vas deferens. A complete lack of sperm in the man’s semen—azoospermia—is a symptom of this condition.
How It Affects Fertility
CBAVD significantly affects a man’s fertility since the sperm are trapped in the testicles, with no way of reaching the urethra to exit the body. Up to 65 percent of men with CBAVD are cystic fibrosis carriers and 40 percent of men with CBAVD may actually have a mild form that only presents itself as CBAVD. When a man with CBAVD is undergoing fertility treatments, it’s imperative that he and his partner have genetic counseling and are both screened for cystic fibrosis, including a test for what is called the 5T polyvariant, to be sure they do not pass CF on to their offspring. If both are found to be carriers, preimplantation genetic diagnosis (PGD) is an option. PGD can determine which embryos carry cystic fibrosis so that only healthy embryos are chosen for transfer in an IVF (in vitro fertilization) procedure.
Treatment
Surgery cannot correct the problem if the vas deferens are absent. But there are surgical options for retrieving sperm from the body.
Pregnancy Prognosis
MESA (microsurgical epididymal sperm aspiration) is a procedure that retrieves sperm from the epididymis. A testicular biopsy can also be performed to retrieve sperm. Both can be used to produce sperm for ICSI (intracytoplasmic sperm injection, where a single sperm is manipulated to fertilize an egg). Couples may opt instead to use donor sperm.
