Genetic Testing (PGD/PGS)
If you would like to be sure you don’t pass an inherited disease to your unborn baby or have experienced recurrent pregnancy loss, whether trying naturally or through IVF, pre-implantation genetic testing (PGT) may be for you.
The process of genetic testing, requires the patient to go through an IVF procedure, generating embryos and growing these embryo to the blastocyst stage (day 5 of embryo development).
Once the embryos have reached the blastocyst stage, an embryo biopsy is done. This refers to removing a few cells from the embryo and sending these cells off to the genetics laboratory for analysis.
There are two types of PGT testing
PGT-A screens the embryo for normal chromosome number. Humans have 23 pairs of chromosomes which amounts to total of 46 chromosomes. Having an abnormal number of chromosomes (extra chromosomes or missing chromosome) indicates a genetic problem with the embryo. An example of this is Down syndrome, which has an extra chromosome attached to chromosome number 21. This genetic abnormality should be detected by PGS.
PTG-M is recommended in cases when one or both partners of a couple are carriers of a genetic mutation that could lead to a serious medical condition in the resulting offspring. Previously, couples who carried a genetic mutation could choose to have prenatal testing done to see if the baby was affected with the genetic condition. With advances in the field of genetics, couples who are carriers of genetic mutations have the option of having IVF and PGT-M to screen their embryos prior to transferring them to the uterus. It is important to note that all genetic diseases are tested for in this manner. PGT-M is only for single gene disorders, which are caused through the inheritance of a defective gene. There are hundreds of single gene disorders, a list of relatively common single gene disorders are, Huntington’s Disease, polycystic kidney disease, Fragile X, X-linked hydrocephalus, Gaucher disease and Cystic fibrosis.
Dr Wynand E. van Tonder
Specialist Obstetrician Gynaecologist
Sub-specialist Reproductive Medicine
MB ChB (Stell) | FCOG (SA) | MMed O&G (UFS) | MRep Med (Valencia Spain) | MGyn Endo Surg (AITAS) | Minimally Invasive Gynaecological Surgeon (GESEA)
Contact us
Tel: +27 11 463 4833
Emergency: +27 11 321 0111
reception@drwynandvantonder.co.za
reception2@drwynandvantonder.co.za
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Genetic Testing (PGD/PGS)
If you would like to be sure you don’t pass an inherited disease to your unborn baby or have experienced recurrent pregnancy loss, whether trying naturally or through IVF, pre-implantation genetic testing (PGT) may be for you.
The process of genetic testing, requires the patient to go through an IVF procedure, generating embryos and growing these embryo to the blastocyst stage (day 5 of embryo development).
Once the embryos have reached the blastocyst stage, an embryo biopsy is done. This refers to removing a few cells from the embryo and sending these cells off to the genetics laboratory for analysis.
There are two types of PGT testing
PGT-A screens the embryo for normal chromosome number. Humans have 23 pairs of chromosomes which amounts to total of 46 chromosomes. Having an abnormal number of chromosomes (extra chromosomes or missing chromosome) indicates a genetic problem with the embryo. An example of this is Down syndrome, which has an extra chromosome attached to chromosome number 21. This genetic abnormality should be detected by PGS.
PTG-M is recommended in cases when one or both partners of a couple are carriers of a genetic mutation that could lead to a serious medical condition in the resulting offspring. Previously, couples who carried a genetic mutation could choose to have prenatal testing done to see if the baby was affected with the genetic condition. With advances in the field of genetics, couples who are carriers of genetic mutations have the option of having IVF and PGT-M to screen their embryos prior to transferring them to the uterus. It is important to note that all genetic diseases are tested for in this manner. PGT-M is only for single gene disorders, which are caused through the inheritance of a defective gene. There are hundreds of single gene disorders, a list of relatively common single gene disorders are, Huntington’s Disease, polycystic kidney disease, Fragile X, X-linked hydrocephalus, Gaucher disease and Cystic fibrosis.