Genetic Testing and Counseling

Genomics Program

The Largest US
IVF In-House Clinical

Genetic Counseling Team
Building Healthy Families

Genetic testing and counseling play a significant role in helping intended parents make the most informed decision around their treatment plan. Many patients find success and peace-of-mind through the use of genetic technology and IVF on their journey to parenthood.

Comprehensive Genetics Resources

We have the largest clinical genetic counseling team of any IVF clinic in the US and we offer the most advanced genetic screening available for intended parents and embryos.

Genetic Carrier Screening

Through a saliva or blood sample, we are able to screen egg and sperm providers for many recessive genetic diseases at once. Most people who we test are carriers for one or more genetic diseases without being aware of it or having a family history of the disease. If the egg and sperm provider are carriers for the same genetic disorder then we know that there is an increased risk for a baby to develop that genetic disease. In many cases, we can nearly eliminate this risk through additional embryo testing or other risk-reducing options.

At ORM, we offer genetic carrier screening to every sperm and egg provider for more than 250 genes associated with recessive conditions. For egg donors, this carrier screening is required. The panel of disorders for which we screen is significantly more comprehensive than is standard practice among many clinics. This allows intended parents to identify when they are at risk or to select an egg donor who is a good match.

Genetic Counseling & Family History Evaluation

Our team of genetic counselors performs a detailed family genetic history evaluation on all intended parents and egg donors in ORM’s program. They are also glad to perform family history evaluations on donors from outside agencies. By collecting and analyzing family genetic history, we help identify areas of potential genetic risk that may warrant further investigation or testing prior to the IVF cycle, such as when there is a history of birth defects, learning disabilities, or even adult-onset diseases like cancer or heart disease.

Embryo Testing with Preimplantation Genetic Testing for Aneuploidy (PGT-A)

In every IVF cycle, embryos are first examined under the microscope in order to select the best-looking embryo(s) for transfer. In addition to this visual inspection of embryos, it is possible to count the number of chromosomes in each embryo. Chromosomes are packages of genes, or DNA, which are present in every cell of a person. Normally, there are 46 chromosomes (23 pairs) in each cell. Embryos with the correct number of chromosomes have the best potential for implanting and resulting in a successful pregnancy. Abnormalities in chromosome number are the most common cause of failed implantation in IVF cycles and miscarriage.

Embryo testing using preimplantation genetic testing for aneuploidy (PGT-A) involves the precise laser removal (biopsy) from an embryo of about 5-10 cells that would otherwise develop into the placenta at the blastocyst (day 5-6) stage. The cells are tested using the latest technology, next-generation sequencing, to determine the number of chromosomes in the cells from the biopsy. The embryos are generally frozen for future transfer while testing is being performed.

What Are the Risks of PGT-A?

Since 2010, we have biopsied nearly 28,000 embryos and 99.9% of these embryos survived the biopsy. About 97-98% of these embryos survived the freezing and thawing process. Multiple peer-reviewed, large, published studies have shown that implantation rates of PGT-A tested embryos are high, and the few studies available on long-term outcomes of babies and children created from biopsied embryos have provided some early reassurance about risks. These findings suggest that, in experienced hands, PGT-A is most likely a safe procedure.

Is Embryo Testing Needed with Donor Eggs?
Embryos with extra or missing chromosomes are very common, can occur at any age, and are usually not related to one’s family genetic history or carrier status. At ORM we have found that at least 1 in 4 embryos created from donor eggs have chromosome abnormalities and would not have resulted in a healthy baby.
Does Embryo Testing Improve Live Birth Rates?
Transferring only tested embryos with the correct number of chromosomes may improve the chances of implantation, a successful pregnancy, and live birth, while also decreasing the chance of a baby being born with a disorder linked to a full chromosome abnormality such as Down syndrome.
Why Else Might You Consider Embryo Testing?
Embryo testing helps detect the most common chromosome abnormalities (such as Down syndrome) that could affect the physical and mental health of a baby. Also learning the sex of the embryos (XX or XY) for present or future family sex balancing is made possible by embryo testing.

Embryo Testing with Preimplantation Genetic Testing for Monogenic Disorders (PGT-M) and Structural Rearrangements (PGT-SR)

Preimplantation Genetic Testing for Monogenic (“Single Gene”) Conditions (PGT-M, formerly known as PGD) is a technology that allows the identification of specific genetic diseases in embryos. It is performed for patients or families who are known to be at increased risk for having children with an identified genetic condition, such as when a couple are both found to carry the same genetic condition (e.g. cystic fibrosis, Tay-Sachs disease); a woman is a carrier of an X-linked condition (e.g. Fragile X syndrome, Duchenne muscular dystrophy); or an intended parent has a dominant condition (e.g. a hereditary cancer syndrome, polycystic kidney disease, Huntington’s disease).

For individuals or couples at risk of passing on a serious genetic condition that could decrease their offspring’s quality of life, PGT-M can rekindle optimism and offer a hopeful alternative. Since pregnancies conceived “naturally” would be at risk of having the heritable condition, invasive prenatal diagnosis is the only other option for learning the genetic status of the offspring prior to delivery. Many patients feel that this option would put them in the stressful and emotional position of having to decide whether to terminate an affected pregnancy.

With PGT-M, embryos can be transferred with the knowledge that the risk for the baby to be affected with the genetic condition is extremely low. PGT-M can, therefore, provide peace of mind during the pregnancy and after birth, and hopefully lead to a better
long-term outcome for the family and their children.

For which conditions can PGT-M be performed?

PGT-M can be offered for most conditions in which the genetic mutation(s) responsible for the condition are known. Some patients come to us already having identified the mutations in their family because of a known heritable disease. Others need help facilitating the genetic testing process. In either case, we can help you determine whether you are a candidate for PGT-M.

How reliable is PGT-M as a technology and is it safe? Over 100,000 cycles of PGT (embryo biopsy + testing) have been performed around the world since 1990; about 20,000 of these were for inherited genetic conditions. There is a small error rate with PGT-M due to the complexity of testing such a small sample. There are small risks to the IVF process and to the biopsy of embryos, which would be reviewed in detail prior to starting the process.

How reliable is PGT-M as a technology and is it safe?

Over 100,000 cycles of PGT (embryo biopsy + testing) have been performed around the world since 1990; about 20,000 of these were for inherited genetic conditions. There is a small error rate with PGT-M due to the complexity of testing such a small sample. There are small risks to the IVF process and to the biopsy of embryos, which would be reviewed in detail prior to starting the process.

How successful is IVF with PGT-M?

There are many factors that determine the success rate of the procedure. These include the ages of the egg and sperm providers; past medical and fertility history; and the inheritance pattern of the genetic condition being tested. The quality of the clinic and the embryology laboratory are also very important factors to a successful outcome.

What is PGT-SR?

PGT-SR is available for patients who have a known balanced chromosome rearrangement such as a translocation or inversion. This may have been identified after a patient had miscarriages or a failed IVF cycle. While carriers of these rearrangements are generally healthy, they have an increased chance of miscarriage, infertility, or having a baby with an unbalanced form of the chromosome change which can result in birth defects or learning disabilities. Our genetics team can review the chromosome results (“karyotype”) to determine whether someone is a candidate for PGT-SR. Most of the time, an accurate test for PGT-SR can be offered by our laboratory.

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