Troché Fertility Centers offers genetic testing for the screening of chromosomal abnormalities and diagnosis of specific genetic conditions. This testing is known as Pre-implantation Genetic Testing because it occurs prior to the achievement of a pregnancy. There are 2 types of testing. When the testing is performed for screening (such as for Down syndrome) it is known as Pre-implantation Genetic Screening (PGS) and when testing is performed for a specific genetic condition it is known as Pre-implantation Genetic Diagnosis (PGD). With PGS and PGD, In Vitro Fertilization (IVF) is needed to create the embryos which undergo biopsy when the embryos are 5-6 days old. The embryos are then cryopreserved (or frozen). The removed cells are sent to a reference laboratory for analysis and the genetic testing results are available within 7-10 days after the biopsy. Then, with the results on hand, a frozen embryo transfer (FET) cycle is scheduled where 1 or 2 normal or unaffected embryos are transferred into the intended mother’s uterus, where hopefully one will grow and result in the birth of a healthy child.
Using PGS and PGD to screen the embryos significantly reduces the chances of having a child with a chromosomal abnormality or affected with a specific genetic condition.
A woman is born with all the eggs (oocytes) she is going to use during her reproductive lifespan. At birth she has 1-2 million eggs, by puberty about 300-400 thousand, and by menopause the eggs are mostly gone. The egg quality decreases as a woman gets older, and lower quality eggs after fertilization are more likely to become abnormal embryos. As a result, with advancing maternal age there are lower implantation rates, lower pregnancy rates and more miscarriages. These abnormal embryos are aneuploid which means they have too many or too few chromosomes. The most commonly known example of aneuploidy is Down syndrome (Trisomy 21), which is caused by an extra copy of chromosome 21. The risk of aneuploidy rises rapidly after a woman reaches the age of 35 and beyond.
The goal of PGS for advanced maternal age is:
The American Society for Reproductive Medicine (ASRM) defines Recurrent Pregnancy Loss (RPL) as “a disease distinct from infertility, defined by 2 or more failed pregnancies.”
Causes of Recurrent Pregnancy Loss are:
The RPL evaluation is designed to find an explanation by ruling out the above possible causes. Once a cause is found, a treatment addressing the abnormality follows. Treatment may be a medical therapy when there is an autoimmune, coagulation, endocrine or metabolic cause, or a surgical procedure to correct a uterine abnormality or malformation.
Couples with structural abnormalities of their chromosomes have more miscarriages because they make embryos that have an abnormal number of chromosomes (too many or too few). Treatment options include using donor gametes (eggs or sperm) to replace the gametes from the affected parent or using PGS with IVF and then selecting a normal (unaffected) embryo to transfer.
Couples with idiopathic or unexplained RPL, after completing a standard RPL evaluation, have no explanation for their miscarriages. This group has a tendency to have more chromosomally abnormal embryos than other couples. As a result, RPL patients benefit from PGS because a chromosomally normal embryo can be selected for transfer with a resultant increase in the implantation rate, reduction in the miscarriage rate, and an increase in the live-birth rate.
An abnormal structural arrangement of the chromosomes can often result in an increased incidence of miscarriages. Occasionally the abnormal structural arrangement is known from family history, or may be discovered during the evaluation for recurrent pregnancy loss after several miscarriages have occurred. While there are different types of chromosomal structural abnormalities, in general, a segment of a chromosome has moved into a different position on the same or on a different chromosome. Examples include balanced translocations, reciprocal translocations, and inversions. Children of individuals with these abnormalities can be normal (no structural abnormalities of the chromosomes), an unaffected carrier (has the parent’s abnormality but otherwise is normal) or affected (unbalanced and missing a part of a chromosome or having excess chromosome material). Regardless of which abnormal structural arrangement an individual has, PGS can be used to test the embryos for the presence of the specific abnormality present in the carrier parent. Identifying and transferring unaffected (normal) embryos greatly decreases the risk for miscarriage from a chromosomal imbalance and increases the chance of a healthy and successful pregnancy.
When no positive pregnancy occurs after multiple IVF cycles, despite transferring “good quality embryos”, a common cause is an irregular chromosomal configuration or aneuploidy. Morphologically good embryos (good looking) may appear normal but may be chromosomally abnormal. As described above, PGS screens for abnormal embryos and identifies normal embryos so that a normal or unaffected embryo may be transferred into the intended parent. Transferring a chromosomally normal embryo increases the chance of a healthy and successful pregnancy.
Frequently, a couple is aware of a condition that runs in the family and requests Pre-implantation Genetic Diagnosis (PGD) to avoid having an affected child. In general, PGD can be performed if the specific genetic mutation that causes a condition is known. Examples of Single Gene Disorders that can be diagnosed by PGD are Tay-Sachs disease, cystic fibrosis, muscular dystrophy, sickle cell anemia, and Huntington’s disease. As with Pre-implantation Genetic Screening (PGS), IVF is needed to create the embryos to be tested for the specific single gene disorder. Then, with the test results on hand, 1 or 2 normal or unaffected embryos are transferred into the intended mother’s uterus, where hopefully one will grow and result in the birth of a healthy child.
Single gene testing can be combined with chromosome screening (PGS), to maximize the chances of having a healthy baby by also avoiding a chromosomal abnormality in the child (i.e. Down syndrome or Trisomy 21).
PGS and PGD are able to diagnose genetic abnormalities with approximately 98% accuracy. After PGS or PGD, additional prenatal testing is optional.
For further information about PGD and PGS at our fertility center, please contact us.
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