Preconceptional Genetic Diagnosis
Sometimes the future progenitors can be affected by or have family precedents of a genetically-based disease. Since these pathologies are a significant cause of infertility (e.g. repeated abortions) and of infant and adult mortality, it is essential to identify couples at high risk of having descendents with these diseases. The best time to begin these identification studies, where possible, is before pregnancy (pre-conceptional genetic diagnosis).
When there is evidence that sterility or infertility may have genetic causes (as indicated by clinical data or family history), we can carry out laboratory tests to identify the cause. The results obtained from these tests are decisive when deciding on the most suitable reproduction treatment for each case.
When is it advisable to study the Human Karyotype?
-Children or parents that carry chromosome alterations.
-Clinical manifestations indicating chromosomopathy.
-Precedents of mental retardation whose cause is unknown or unclear.
-Short girls with no other kind of pathology.
-Anomalies in sexual development.
-Unknown cause of sterility.
-Successive failures in implantation.
- Men with severe oligozoospermia or secretory azoospermia.
-Repeated abortions or miscarriages.
What causes of infertility can be identified by means of a Molecular Analysis?
-Mutations in the SRY gene.
-Microdeletions of the Y chromosome.
-Mutations in the Androgen receptor gene.
-X Fragile syndrome.
-Mutations in the FSH receptor gene.
When is Prenatal Genetic Diagnosis recommended?
Advanced maternal age.
Previous child affected by chromosome anomaly.
Progenitor carrier of a chromosome anomaly.
Foetal malformation detected by ultrasound scan.
Intrauterine growth retardation.
Altered biochemical screening.
Gestation achieved after ICSI with low quality semen.
Family precedents of molecular genetic disease.
This is the most effective way of preventing genetic diseases. It provides a prenatal diagnosis (before birth) to pregnant women at risk.
-Amniocentesis: This is the extraction of a sample of amniotic fluid between the 14th and 16th weeks of pregnancy. It was the first method introduced for prenatal genetic diagnosis, and is at present the most widely used.
-FISH: This is the fluorescent in-situ hybridisation technique. It allows us to evaluate numerical chromosome alterations in amniotic fluid cells directly, without cultivation.
Experts in Quality
We are committed to quality and our genetics laboratory participates in external quality control programmes by the EQA (External Quality Assessment) and the AEDP (Asociación Española de Diagnóstico Prenatal (Spanish Prenatal Diagnosis Association)). It is also certified by the ENAC (Entidad Nacional de Acreditación (National Accreditation Entity)) in keeping with ISO norms 9001:2000.