Session 1: Primary investigation of the infertile couple

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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 ICSI.

 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 geneticist.


Genetic evaluation program for men with CBAVD (congenital bilateral absence of vas deferens).

The man is evaluated for specific mutations for cystic fibrosis.


If carrier of cystic fibrosis mutation, the partner is evaluated, and after this genetic counseling.


If no occurrence of cystic fibrosis mutation, ultrasound scan of kidneys and urinary tract is performed to rule out malformations


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 performed.

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