Checking Your Gene Health

Many couples who want to conceive go through an additional process called carrier screening. Carrier screening is a genetic test that determines if one carries a gene with a possibility of a genetic disorder. Such type of screening test is commonly done in couples who opt for in vitro fertilization (IVF). Some couples choose to get preimplantation genetic testing (PGT) during the process of IVF.

How is this screening performed?

Carrier screening is not mandatory and the choice is up to the couple. Carrier screening is done either before or during pregnancy. The screening is done by taking one’s sample of blood, saliva, or tissue and sent for testing. Negative results mean one does not carry the gene and positive means one is a carrier of the disorder.

PGT and IVF

Preimplantation genetic testing (PGT) is a screening test done during the IVF procedure. In this technique, the screening test is done once embryos are made through IVF. This is performed before the transferring and implanting into the uterus. PGT is to ensure that the embryo does not carry abnormal genetics or chromosomes. This will lessen the chances of miscarriages or failed IVF cycles.

Considering PGT

The healthcare specialist will discuss if the need of PGT is required for each patient going through IVF. PGT is usually recommended for women over 37 years old or couples with a family history of genetic disease. Women who have a history of recurrent miscarriages can also opt for PGT.

The procedure of PGT in IVF

After the retrieval of eggs and fertilization, embryos are formed. Once the embryo reaches the blastocyst stage, cells from the embryo are removed and sent for biopsy and genetic analysis. When PGT is being carried out, the embryo is kept and frozen in the laboratory. Results are usually available 1-2 weeks after biopsy.

Aneuploidy testing

PGT-A which is pregenetic implantation testing for aneuploidy. PGT-A helps to determine the reproductive potential of the embryos. This is commonly used in couples going through IVF, recurrent pregnancy loss, or women over the age of 35. PGT-A is also used for couples with failed cycles of IVF or having a prior child with a genetic disorder.

Other types of PGT

PGT-M which is pregenetic implantation testing for monogenic disorders. PGT-M is for couples with an inherited disorder who want to prevent passing on the disease to the child. This test will help determine which embryos carry the disease and which do not before transferring the embryo. PGT-SR is pregenetic implantation testing for structural rearrangements. This test is useful for couples with known chromosomal translocations, which lessens the chances of pregnancy loss.

A successful pregnancy

The IVF process can be daunting and many thoughts go through the mind such as the health of the baby. Doctors are always here to help and provide the best recommendations. PGT is one test that can help to avoid miscarriages and aid in determining the health of the baby. Speak to the doctor about PGT and the efficacy of the results.