Genetic Testing in Boca Raton & Aventura

We Recommend Preconception Carrier Screenings Before Pregnancy

We recommend that all our patients undergo preconception carrier screening, as it is crucial to determine if you or your partner are carriers of a genetic condition that could impact your pregnancy or the health of your child.

Carrier Screening will analyze you and your partner’s DNA to determine if there is a presence of any of the 300+ genetic abnormalities that can cause severe congenital defects in your future baby. These devastating conditions include cystic fibrosis, Tay-Sachs, fragile X syndrome, and sickle cell anemia.

We may recommend the use of one or more screenings as part of your IVF treatment to determine which of your embryos is best to transfer. This will increase your odds of delivering a healthy baby. There are three threes of PGT available: PGT-A, PGT-M, and PGT-SR.

PGT-A

PGT-A is a process developed to screen for aneuploidy, or an abnormal chromosomal composition. Previously known as PGS or Preimplantation Genetic Screening, this process involves the cell biopsy of embryos created during an IVF cycle at the blastocyst stage. At this stage, which is on the fifth or sixth day of development, we send the cells to a genetics laboratory where all 23 chromosomal pairs from each embryo are screened for abnormalities. To move forward with a healthy pregnancy, it is crucial to identify any presence of aneuploidy, as this is a leading cause of implantation failure and miscarriage.

PGT-M

Rather than examining all 23 chromosomes of embryonic cells, preimplantation genetic testing for monogenic/single-gene defects examines only certain genes within these cells to search for a specific defect that may be known to run in your family or your partner’s family.

PGT-M refers to preimplantation genetic testing for monogenic or single-gene defects.

If there is a genetic disease that runs in your family, this screening is highly recommended prior to any IVF treatment to increase the chances that you will have a healthy pregnancy and child.

PGT-M, also referred to as PGD, or preimplantation genetic diagnosis, is performed on embryos conceived through IVF. Unlike PGT-A, which counts the chromosomes in embryonic cells to assure normalcy, PGT-M examines specific genes within the cells to identify any genetic defect that is known to affect your family. In this manner, PGT-M can determine which embryos are unaffected by the genetic disorder so that they may be selected for transfer.

PGT-M is recommended if you and/or you partner are affected by, or are carriers of, a single-gene disorder or a form of cancer that can be hereditary. This includes such diseases as cystic fibrosis, Huntington’s disease, Fragile X syndrome, and breast or ovarian cancers identified through the BRCA1 and 2 genes. PGT-M can test for almost any single-gene disorder when affected family members can participate in the testing, as this helps with the development process.

To see if you are a candidate for PGT-M, our board-certified genetic counselor will review your case history and explain the testing process. Once your pertinent familial history is obtained, a test will be designed specifically for your family. After your IVF cycle has been completed and the embryo biopsy performed, we will examine your results and carefully review them with you. If an embryo free of the genetic disorder is identified, it can then be used for the transfer or frozen for later use.

At PBFC our specialists will make sure you understand the PGT-M process every step of the way, and we will ensure that you have the best possible chances to carry your baby to term and to deliver a healthy child.

PGT-SR

Preimplantation genetic testing for chromosomal structural rearrangements is performed in conjunction with PGT-A. In this process embryonic cells are examined for specific structural abnormalities for which you, as well as your partner, may be at risk. If such a rearrangement is found, it can increase the odds that the embryo will fail to implant in the womb, be lost through miscarriage, or be born with a genetic disorder.

When embryos have been genetically tested, it allows the birth parents to select the best embryos to transfer, thus improving the odds of carrying a healthy baby to term. PGT can also reveal any previously unexplained reasons as to why a series of IVF cycles have failed or why multiple miscarriages have occurred.

An additional benefit to PGT is that it provides the option to select a single embryo for transfer. Having the ability to choose just one euploid embryo for implantation eliminates the risk of multiples. It also eases the emotional duress, the financial strain, and the health risks of transferring multiple embryos that may appear to be normal from a visual standpoint but have an underlying genetic defect.

PGT is of benefit and an option for all prospective parents using IVF. It is highly recommended for at-risk patients who are 35 years or older, have a history of recurrent miscarriages or a previous child with a genetic condition, have had past IVF failure or unexplained infertility, or if there is any family history of a genetic condition.

Please contact our office to find out more about PGT and to learn how we can help you with all your family planning needs.