INFERTILIDTY STUDIES

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GENETIC STERILITY

Did you know that between 12-20% of couples of reproductive age worldwide have reproductive problems? In Spain, ~15% of couples suffer from infertility, being 30% of the cases due to problems in men, 30% in the women, 25% in both and 15% of an unknown cause.
To date, there at least ~2,000 genes known to be involved in the formation of our gametes (eggs and sperm). Our STERILITY study detects mutations in more than 275 genes that cause more than 400 genetic conditions. Request the full list.

icon: sperm and egg
Genetic causes of MALE sterility
  • Astenozoospermia
  • Azoospermia
  • Y-chromosome microdeletions
  • CFTR mutations (cystic fibrosis, absence of vas deferens)
  • Oligozoospermia
  • Teratozoospermia
  • Klinefelter syndrome
  • Kallman syndrome
icon: egg cell sperm
Genetic causes of FEMALE sterility
  • Ovarian dysgenesis
  • Thyroid dyshormonogenesis and hypothyroidism
  • Primary ovarian failure (1-3% cases)
  • Oocyte maturation failures
  • Polycystic ovary syndrome (PCOS)
  • Turner syndrome (45X0)
  • Fragile X syndrome (and carriers)
  • Hereditary thrombophilias
icon: sex independent
Sex-independent genetic causes
  • Disorders of sex development
  • Hypogonadotropic hypogonadism
  • Hypopituitarism
  • Ciliopathy:
    • Bardet-Biedl syndrome
    • Joubert syndrome
    • Meckel syndrome ...

With the purchase of this study you will have 5% discount on a PRECON or PRENAT study.

IMMUNOLOGICAL INCOMPATIBILITY

KIR and HLA-C genotyping makes possible to assess the likelihood of embryo rejection by the maternal immune system

What is KIR?

KIR stands for Killer Immunoglobulin-like Receptors, which are special receptors found on the surface of Natural Killer (NK) cells, a specialized immune cell type. NK cells recognize cells under stress conditions, such as cells infected by viruses or tumor cells, and induce their cell death. NK cell surface receptors can be activators or inhibitors; the activation of these cells will depend on the balance of stimulation perceived by these two types of receptors. KIRs are inhibitory receptors that recognize HLA type I molecules on the surface of other cells.

dibujo célula NK
dibujo celula con HLA
What is HLA?

HLA stands for Human Leukocyte Antigens, which are highly polymorphic (variable) molecules that are expressed on the surface of almost all cells in the body and whose function is to present peptides (small protein fragments) to the cells of the immune system so that they can distingusih between self and non-self cells (e.g. infected by viruses or tumorous). There are two types of HLA antigens: type II are present in cells that professionally present antigens (such as macrophages), and type I (HLA-A, -B, -C) that are expressed in all cells of the body (except erythrocytes) and allow the presentation of peptides.

Abortions due to KIR - HLA incompatibility

Since the main function of NK cells is to defend our body from external agents, and even internal agents in other tissues, they play a key role during implantation, or "invasion" of the uterine endometrium by the trophoblast cells of the embryo. The KIR of the uterine endometrial NK cells (uNK) will recognize and interact with the HLA-C molecules of the embryonic cells. A positive interaction (the embryo is not recognized as something foreign) will allow the regulation of the maternal blood supply to the future placenta for its correct development and will favor a healthy pregnancy. The type of HLA-C antigens expressed on the cell surface of the embryo will depend on the HLA-C group inherited from the father and mother.

KIR    HLA    KIR+HLA

SPORADIC AND REPEATED PREGNANCY LOSS

GENETIC CAUSES

Genetics explain up to 90% of miscarriages that occur before the 8th week of gestation, up to ~50% between weeks 8-11, and ~30% between weeks 16-19. Most of these genetic alterations occur during the formation of eggs or sperm, or shortly after fertilization. However, in some cases they can also be inherited. Changes in the number of chromosomes (aneuploidies) or changes in the size and shape of the chromosomes (structural aberrations) can be detected by means of a karyotype study.

trisomía 16
Aneuploidies: TRISOMIES

More common: T16 (22%), T22 (18%), T21 (10%)

trisomía 21 (Síndrome de Down)
Aneuploidies: TRISOMIES

Less abortive: T21, T13, T18, X and Y

síndrome de Turner
Aneuploidies: MONOSOMIES

X chrom. (Turner syndrome)

poliploidía
Aneuploidies: POLIPLOIDIES

Extra number of all chromosomes

translocación
STRUCTURAL ABERRATIONS

Inversions, duplications, translocations

mutación gen recesivo
GENETIC MUTATIONS

Mostly reccesive disorders

WHEN IS IT RECOMMENDED TO DO THESE TESTS?

icono espermatozoides y ovulo
GENETIC STERILITY
  • Difficulty of conception
  • Abnormal sperm count
  • Failed artificial insemination
  • Suspected Klinefelter or Turner syndrome
  • Polycystic ovary
  • Thyroid disorder
  • Hypogonadism
icono KIR-HLA
KIR & HLA-C
  • Embryo implantation failures
  • Recurrent pregnancy loss
  • For risk assessment of complications during pregnancy
  • For estimating the optimal number of embryos to transfer
  • For selecting compatible donors
estudio de cariotipo
KARYOTYPE
  • Difficulty of conception
  • Ovarian failure
  • Poor semen quality
  • Embryo implantation failures
  • Repeated pregnancy loss
  • Still death
  • Suspected Klinefelter or Turner syndromes

HOW DOES THE PROCESS WORK?

Very simple!

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1. Order the test through our website

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2. You get the consents by email and an appointment

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3. Blood collection at a medical center or at home

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4. We process the sample in the laboratory

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5. Delivery of results and genetic counseling