The PGD is indicated in couples that carries a structural chromosomal alterations or severe genetic diseases. Comprises a series of techniques that allows you to diagnose a specific genetic condition in embryonic cells in order to prevent the transmission of a serious genetic disease to their offspring.

Is also is indicated for those couples with reproductive problems, the PGD screening of aneuploidies (DGSA). Mainly in couples that had repeated miscarriages by unknown cause, as well as implantation failure, advanced maternal age or severe male factor. This type of diagnosis is to detect chromosomal alterations at the level of the embryo that may compromise their viability.

Diseases

Currentyly the diseases that already can be diagnose are:

Diagnosed diseases

    • Huntington’s disease , Fragile X Syndrome, Myotonic Dystrophy, Marfan syndrome, Retinosquisis, Hemofilia-A, Cystic Fibrosis, Beta thalassemia, Hydrocephalus, Emery-Dreifuss, Incontinentia pigmenti (“Bloch–Siemens), Acute intermittent porphyria, Adrenoleukodystrophy, Spinocerebellar ataxia type 3, Duchenne muscular dystrophy (DMD), Hypocalcemic Parálisis, Hereditary angioedema, Carney Syndrome, Spinal muscular dystrophy type 1, Charcot-Marie-Tooth 1, Polycystic kidney disease,

Why in vitro fertilization –IVF- treatment is needed with sperm microinjection -ICSI-?
It is necessary to resort to IVF-ICSI to access to the embryo and perform a cell biopsy. Once removed, the cell will be analyzed for chromosome abnormalities or serious genetic diseases, selecting those healthy embryos or chromosomally normal before the transfer to the uterus.

Can PGD be done for any genetic disease?
The genetic disease must be severe, early-onset and not susceptible of curative treatment.

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