Session 1: Primary investigation of the infertile coupleBack to Index
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Up to page 2. Male infertility – evaluation and worries !
2.3. Genetic evaluation program for all men referred for ICSI due to
(<1 x 106 motile spermatozoa) or azoospermia. Excluded are men
with known obstructive cause, i.e previously vasectomized and/or attempted
re-anastomosed, or CAVD.
A general physical examination and an ultrasound scan of the testicles are
performed. If the ultrasound scan arouses suspicion of carcinoma in situ, a
testicle biopsy with a histological evaluation must be available before
treatment is started.
The first step is:
Genetic counseling in the fertility clinic about the
risk of genetic causes for impaired sperm quality and the risk of
inheriting diseases by use of
The next step:
With consent from the couple a karyotype analysis is performed and the
Y-chromosome is evaluated for micro-deletion
If normal, no known increased risk of inheriting
genetic diseases at ICSI
If deviations, referral to genetic counseling, possibly at a clinical
Genetic evaluation program for men with CBAVD (congenital bilateral absence
of vas deferens).
The man is evaluated for specific mutations for cystic
If carrier of cystic fibrosis mutation, the partner is
evaluated, and after this genetic
If no occurrence of cystic fibrosis mutation,
ultrasound scan of kidneys and urinary tract is performed to rule out
If abnormalities of kidneys and urinary tract, no
increased risk of cystic fibrosis, but there might be an increased risk of
CBAVD in a possible son.
If ultrasound scan normal, further evaluation for
cystic fibrosis mutations can be