PREIMPLANTATION GENETIC DIAGNOSIS
Recent advances in genetic science have allowed genetic examination of embryos developed in vitro by in vitro fertilization without the formation of pregnancy, and the selection of selected healthy embryos in the uterus of the mother. This method is called pre-pregnancy genetic diagnosis (Preimplantation Genetic Diagnosis-PGD).
One of the most important application areas of PGD technique is the detection of embryos which may have a disorder in chromosomes although they do not carry a genetic disease. These disorders are more common in women with advanced age (35 years and older). This may result in infertility as it both reduces the chance of implantation (implantation) and can lead to undesired abortion. As a matter of fact, 40% of every 100 pregnancies in women who are 39 years of age or older have problems due to a digital chromosomal disorder.
The aim of this study is to increase the rate of implantation, decrease spontaneous abortions and increase healthy infant birth rates by selecting chromosomally normal embryos. Indeed, due to chromosomal disorders in normal pregnancies, the low rate, which can reach up to 23 percent, can be as low as 9 percent after PGD.
Pre-pregnancy genetic diagnosis is carried out by taking 1 or 2 cells from embryos which are obtained as a result of fertilization of eggs and sperm cells obtained from mother and father candidate in laboratory environment. For genetic diagnosis, fluorescence in situ hybridization (FISH), microarray based comparative genomic hybridization (aCGH) or special methods called Polymerase Chain Reaction (PCR) are used. The diagnosis of monosomy or trisomy (Down syndrome and other trisomies) and single gene diseases (such as hemophilia, Mediterranean anemia, cystic fibrosis, muscular dystrophies) is possible with PGD. Thus, healthy infants are born by transferring healthy embryos to the mother candidate.
PRE-PREGNANCY
• In couples with genetic or genetic disease carrier,
• Couples with children or children with genetic disease before,
• For the purpose of HLA genotyping,
• Identification of genetic predisposing diseases
• In advanced age group women (37 years and over) who have been accepted for assisted reproductive techniques,
• In couples with recurrent early pregnancy miscarriages,
• Couples who have not had pregnancy or have lost their pregnancies with abortions due to assisted reproductive techniques despite a large number of
• It is applied in cases of chromosomal disorders or genetic diseases with severe male infertility.
HOW TO GET PGD TEST?
• It is evaluated whether the patient is suitable for PGD by a reproductive health professional, a genetic counselor and a doctor of the relevant disease.
• Double tube is prepared for baby operation.
• The egg taken from the mother is fertilized in the laboratory with the sperm from the father.
• Biopsy specimens of 1-2 blastomer cells are extracted by embryologists.
• Cells obtained by biopsy are prepared and tested according to the method to be applied.
• Embryos with genetic disease or chromosomal defects are selected and healthy embryos are transferred to the mother's womb.
