engleski

Preimplantation genetic diagnosis

Preimplantation genetic diagnosis or screening is a very early form of prenatal diagnosis that allows embryos to be tested for genetic disorders before pregnancy has begun. The procedure offers an advantage for couples with genetic disorders whose offspring has an increased risk of a specific genetic condition by helping in the delivery of a healthy baby or the prevention of repeated spontaneous abortions. The diagnostic material for preimplantation genetic diagnosis is generally collected at three different stages of embryo development. These include first and second polar body biopsy, blastomere biopsy at cleavage stage, and trophectoderm (TE) tissue biopsy at blastocyst stage. Here we are discussing different methodological approaches— the use of polymerase chain reaction, microarray platforms, and next generation sequencing. The choice of a diagnostic platform needs to be personalized to fit the patients’ as well as clinical needs.

Preimplantation genetic diagnosis (PGD) ; Embryo ; Microarray ; Next generation sequencing (NGS)

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