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, we offer the possibility of a carrier genetic test for the parents (CGT), Endometrial Receptivity Analysis (ERA), Endometrial Microbiome Metagenomic Analysis (EMMA), Analysis of Infectious Chronic Endometritis (ALICE) or Sperm Aneuploidy Test (SAT).
  • 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).

PRECONCEPTION PHASE

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.

Endometrial Receptivity Analysis or ERA

It is a diagnostic test that evaluates the woman's endometrial receptivity. It identifies the optimal time (called implantation window) for each patient in order to perform a personalized embryo transfer.

Endometrial Microbiome Metagenomic Analysis or EMMA

This test reports the ten most abundant bacteria in the endometrium by determining the percentage of Lactobacilli and dysbiotic bacteria, that is, changes in the microbiome that can cause infertility.

Analysis of Infectious Chronic Endometritis (ALICE)

A diagnostic test that detects the eight bacteria causing chronic endometritis.

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 PHASE

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.

PRENATAL PHASE

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.