Allison Boyd, MS, CGC

Preimplantation genetic testing (PGT) is the general term for genetic testing performed on embryos produced by in vitro fertilization (IVF) before the embryos are transferred to the uterus. The purpose of PGT is to improve the chances of having a successful embryo transfer.

Genetic testing does not impact or change the genetics of an embryo, but it does give doctors and prospective parents more information and may help them select the most viable embryos for transfer.  

There are three types of PGT: PGT for monogenic disorders (PGT-M), PGT for structural chromosomal rearrangements (PGT-SR), and PGT for aneuploidy (PGT-A). PGT-A is the most routine type performed and as such should be understood by prospective parents.

Chromosomes are made up of DNA and genes that determine multiple aspects of a human’s makeup. Chromosome analyses are often performed in an attempt to give a healthcare provider more insight into a range of issues, from potential genetic conditions to what may be causing recurrent miscarriage. Embryonic and fetal genetic testing may be recommended or pursued for a variety of reasons. Sometimes, individuals or couples have genetic conditions that run in their families, in which case in vitro fertilization (IVF) with preimplantation genetic testing (PGT) can help select embryos that do not carry this condition. In other cases, those attempting to conceive or who have had multiple pregnancy losses may pursue genetic testing of an embryo to help ascertain a cause. Genetic testing can also give an early glimpse into the sex of the fetus as well as whether the fetus has extra/missing chromosomes that could cause conditions such as Down or Turner Syndromes.

Klinefelter syndrome (KS) is a genetic condition whereby a male is born with an extra X chromosome. This condition often impacts fertility in addition to potentially other areas related to health and development, though having this condition does not necessarily mean a person cannot have biological children. By understanding this condition's symptoms, causes, risks, and treatments, those with KS can navigate treatment options.

Preimplantation genetic testing (PGT) is the general term for genetic testing performed on embryos produced by in vitro fertilization (IVF) before the embryos are transferred to the uterus. The purpose of PGT is to improve the chances of having a successful embryo transfer.

Genetic testing does not impact or change the genetics of an embryo, but it does give doctors and prospective parents more information and may help them select the most viable embryos for transfer.  

There are three types of PGT: PGT for monogenic disorders (PGT-M), PGT for structural chromosomal rearrangements (PGT-SR), and PGT for aneuploidy (PGT-A). PGT-A is the most routine type performed and as such should be understood by prospective parents.

In order to increase the chances of a successful pregnancy, embryo grading is completed by an embryologist during an in vitro fertilization (IVF) cycle. Assessing embryos for quality at specific stages of embryo development can be a valuable tool in reproductive medicine to help the doctor decide which embryo to transfer first (when there is more than one embryo available for transfer). Understanding what takes place during embryo grading is important, in that it can help patients determine what their next steps in the IVF process might be.

Monosomy X is a chromosome abnormality that occurs randomly during fertilization and affects only females. Also known as Turner syndrome (TS), this is a genetic condition that if present in a fetus causes significantly increased risk for miscarriage and prenatal complications, like heart defects. After birth, individuals with Turner syndrome are at increased risk for growth issues, learning disabilities, and infertility as adults. Fortunately, with proper early intervention and counseling on reproductive options and risks, women with TS may go on to have successful pregnancies.

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Preimplantation genetic testing (PGT) is the general term for genetic testing performed on embryos produced by women undergoing in vitro fertilization (IVF) before transfer to the uterus. PGT aims to improve the chances of having a successful ongoing pregnancy after embryo transfer. While genetic testing does not impact or change the genetics of an embryo, it gives doctors and prospective parents more information and may help them select the most viable embryos for transfer.