Unidad de Reproducción de la Clínica Vistahermosa

Karyotype in peripheral blood

Lymphocytes are obtained from a blood sample and the cellular karyotype investigated.

This is indicated for cases, such as subfertile patients, when there are repeated miscarriages and where specific chromosomal abnormalities in children are found.

Investigation of Y chromosome microdeletion

Almost 20% of males with azoospermia have a microdeletion in one or more areas of the AZF region of the long arm of the Y chromosome, sometimes in the DAZ gene.

The test consists of an investigation using molecular biology techniques (polymerase chain reaction amplification  PCR-multiplex) of mutations in various areas of the AZF region, including the DAZ gene.

Indications:

• subfertile patients
• ICSI (intracytoplasmic sperm injection) candidates

Molecular investigation of other mutations

There are a growing number of hereditary diseases that are related to sterility processes where the mutation that causes them is known, such as cystic fibrosis.

In the Unit we see patients in consultation and if a study of mutations is necessary, we proceed with the extraction of DNA from blood cells and the study of the mutation by means of molecular biology techniques.

FISH in semen

This is a study by means of DNA probes (DNA complementary to specific sequences) and microscopic observation of fluorescence (Fluorescence in situ hybridisation) of chromosomes in spermatozoids to identify numerous chromosome abnormalities. Chromosomes 13, 16, 18, 21, X and Y are routinely investigated.

Indications:

• severe oligozoospermia and/or teratozoospermia
  
• patients with abnormalities in sex chromosomes
• patients who are carriers of translocations - patients who have received chemo/radiotherapy
• repeated miscarriage for unknown reasons