Genetic Testing (PGT)

Preimplantation genetic testing (PGT) examines a few cells taken from IVF embryos before transfer. PGT-M looks for a specific inherited single-gene disease, PGT-SR for a chromosome rearrangement carried by a parent, and PGT-A counts chromosomes in general.

For couples with a known genetic risk, PGT-M and PGT-SR can greatly reduce the chance of an affected pregnancy. PGT-A is more debated: it may lower miscarriage per transfer in some groups but has not been shown to raise the overall chance of a baby from a cycle.

What Genetic Testing (PGT) shows

PGT-M shows whether each embryo carries the family's known mutation, for example for cystic fibrosis, thalassaemia, spinal muscular atrophy or a BRCA variant. PGT-SR shows whether an embryo has a balanced or unbalanced set of chromosomes when a parent carries a translocation. PGT-A reports whether the sampled cells have the normal 46 chromosomes, an abnormal count, or a mixture (mosaic). The test samples the outer layer that becomes the placenta, so it is a strong indicator of the embryo, not a certainty.

When Genetic Testing (PGT) is recommended

• Couples who both carry the same recessive gene disorder, or one partner with a dominant or X-linked disorder
• A parent with a balanced translocation or inversion
• Couples seeking an HLA-matched sibling for a child needing a stem cell transplant, within legal rules
• Recurrent miscarriage or repeated implantation failure, where PGT-A is sometimes offered
• Women of older reproductive age, after counselling on the mixed evidence

Limits and situations where another test is better:

• It cannot test for every genetic condition or promise a healthy baby
• Women with very few embryos may end up with nothing to transfer
• Mosaic and inconclusive results are difficult to interpret
• Sex selection for non-medical reasons is prohibited in Türkiye
• Prenatal testing in pregnancy is still advised to confirm the result

How to prepare

• Genetic counselling for both partners, with the family's mutation report
• For PGT-M, blood or saliva from the couple and sometimes relatives, so the laboratory can build a custom test over 4 to 8 weeks before IVF starts
• Standard IVF work-up and a valid marriage certificate
• Discussion of what will happen to affected or mosaic embryos

What happens during the test

PGT requires an IVF cycle with ICSI. Embryos are grown for 5 to 6 days to the blastocyst stage. The embryologist opens the shell with a laser and removes 5 to 10 cells from the outer layer. The embryos are then frozen while the cells are analysed. You are not present for the biopsy and feel nothing from it; your part is the stimulation, egg collection and a later frozen embryo transfer.

Results and next steps

Results take about 1 to 3 weeks. A genetic counsellor and your fertility doctor go through each embryo's report. A suitable embryo is thawed and transferred in a later cycle, usually 1 to 2 months after egg collection. If no embryo is suitable, options are another cycle or stopping.

• Test time: Biopsy is done in the laboratory on day 5 or 6
• Results ready: 1 to 3 weeks
• Back to everyday activity: None from the test itself

Safety and risks

• A small chance of embryo damage from biopsy
• Misdiagnosis in roughly 1 to 2 in 100, which is why prenatal confirmation is advised
• No embryos suitable for transfer
• All the usual risks of IVF stimulation and egg collection
• Discarding mosaic embryos that might have produced a healthy baby

Arranging Genetic Testing (PGT) in Türkiye

PGT is a reasonable reason to travel if you have a defined genetic indication, since it is expensive or restricted in many countries. It needs two visits: about 2 weeks for stimulation and egg collection, then a few days for a frozen transfer a month or more later. Turkish law restricts assisted reproduction to married couples using their own eggs and sperm. Donor eggs, donor sperm, donor embryos and surrogacy are not permitted, and a marriage certificate is required.

Send your previous reports and the question you want answered and a Clinic-Y coordinator replies within 24 hours with suitable teams and written, all-inclusive proposals side by side. Reviewing your case is free.

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