At IVI we offer the most advanced genetic studies according to the current phase of the patients' reproductive project:
- Preconception phase: Prior to seeking pregnancy, IVIRMA specialists perform the latest diagnostic tests whenever there is a suspicion of implantation problems.
- Preimplantation phase: These are the studies carried out on the embryo before it is transferred to the uterus. In accordance with the patient's indications, we offer testing for aneuploidies (PGT-A), testing for structural rearrangements (PGT-SR) or testing for monogenic disorders (PGT-M).
- Prenatal phase: Once pregnancy is achieved and before the birth of the baby we can perform the Non-Invasive Prenatal Test (NIPT) or if the pregnancy fails, the Products of Conception (POC).
Carrier genetic test (CGT)
The aim of this test is to identify which mutations are present in an individual. This test allows us to detect mutations with recessive inheritance (that is, the disorder is only suffered if both parents are carriers of the same mutation) and the most relevant of those linked to the X chromosome. By comparing the information from the two individuals who wish to have children, we can see whether the mutations from each of them are compatible or, on the contrary, whether they match and can lead to children affected by the disease.
Sperm Aneuploidy Test (SAT)
It is a diagnostic test that studies sperm chromosomes to detect cases in which there are an abnormal number of them.
Preimplantation Genetic Testing for Aneuploidies or PGT-A:
A test that detects whether there is a numerical alteration in an embryo's chromosomes, that is, whether there are more or less chromosomes than the normal number (46).
Preimplantation Genetic Testing for Structural Rearrangements or PGT-SR
A test that detects whether there is a rearrangement in the structure of an embryo's chromosomes. Sometimes, despite having undergone a rearrangement, the structure is compensated (balanced) and the person does not suffer the disease. Those cases which, due to the rearrangement in the chromosome structure the gene is not correctly expressed, result in the embryo not implanting in the maternal uterus (infertility), the development of the embryo stopping during pregnancy (repetitive miscarriages) or genetic disorders from birth (including malformations and intellectual disability).
Preimplantation Genetic Testing for Monogenic disorders or PGT-M
A test that allows us to detect in each embryo the alteration or mutation of a particular gene that would cause a monogenic or Mendelian disorder. This test allows us to detect different types of inherited diseases: autosomal recessive and autosomal dominant diseases and X-chromosome-linked diseases.
Non-Invasive Prenatal Test or NIPT
It is a non-invasive prenatal screening test (unlike amniocentesis) which analyses the most common chromosomal abnormalities (Down Syndrome, Edwards Syndrome, Patau Syndrome and also the most common in sex chromosomes, except for twin pregnancies).
Products of conception or POC
A test that analyses the foetal tissue of a gestational loss to see if the miscarriage was the result of a chromosomal aneuploidy.