Who Should Consider Genetic Screening？
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Are of an advanced maternal age (38 or over)
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Poor sperm quality or quantity
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Have had unsuccessful IVF cycles
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Have experienced recurrent miscarriage
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Have a family history of chromosomal disorders
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Carriers of a known genetic disorder
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Want to increase their chance of a successful IVF cycle
Genetic Screening Overview
Genetic Screening either for the purpose of screening for abnormal chromosomal rearrangements known as Aneuploidy (known as PGS) or for the purpose of diagnosing a specific single gene or Monogenic condition (known as PGD) are techniques that allow embryos to be tested for such conditions prior to being transferred to a woman’s uterus for implantation.
Due to the techniques involved, Genetic Screening can only be used in conjunction with in vitro fertilization (IVF). IVF allows fertilization of the eggs to take place in a laboratory where the resulting embryos can be tested before being transferred to the uterus.
is when embryos are tested for chromosomal abnormalities. Chromosomes are sub-cellular structures that house one’s genes. All of the information that is needed to lead to an individual’s development is contained on these chromosomes and each one of us has 23 pairs of them. During human reproduction, it is not unusual to produce embryos that have too few or too many chromosomes, this is known as “aneuploidy”. PGS, also commonly referred to as Aneuploidy Screening is used to screen for commonly encountered embryonic chromosomal disorders. Infertile couples may benefit from this test if the female partner is older, if they have had several failed IVF cycles, or if they suffer from repetitive older miscarriages.
is a diagnostic procedure in which embryos are tested for genetic abnormalities. Screening for a genetic illness can be done by performing PGD for a single gene mutation. In this situation, the embryos are screened not for a chromosomal problem, but for a single gene abnormality associated with a single disease. Thousands of gene loci have been identified. Certain illnesses are carried as traits by parents. When both traits are passed on to a child, she or he can be affected. Yet, for many such illnesses, carrier status can be diagnosed prior to conception. Both family history and ethnic background help to determine which testing may be appropriate for you. PGD screenings for single gene defects have been carried out for scores of genetic illnesses, including: cystic fibrosis, Huntington’s chorea, Marfan syndrome, Tay-Sachs and Sickle Cell Anemia.
Genetic Screening either for the purpose of screening for abnormal chromosomal rearrangements known as Aneuploidy (known as PGS) or for the purpose of diagnosing a specific single gene or Monogenic condition (known as PGD) are techniques that allow embryos to be tested for such conditions prior to being transferred to a woman’s uterus for implantation.
Due to the techniques involved, Genetic Screening can only be used in conjunction with in vitro fertilization (IVF). IVF allows fertilization of the eggs to take place in a laboratory where the resulting embryos can be tested before being transferred to the uterus.
Can Genetic Screening Help Improve IVF Success Rates?
This is a controversial issue as patient selection (age, indication) does determine its efficacy. PGS or PGD can cause a transient stunting to the growth of the embryo and may decrease the overall pregnancy rate in young patients (less than 35 years of age) who would otherwise not need this procedure. For this reason, PGD/PGS screening(s) are not routinely done unless there is a history of repetitive pregnancy loss (miscarriages) in the younger patients or a medical indication for PGD. For all patients with RPL, regardless of age, this can increase the chances of a live birth.
PGD is done for genetic disease removal from the embryo so the resultant child will not be afflicted, and therefore is indicated when the goal is to do so. Older patients with increased risk of aneuploidy may benefit from PGS as well. Your physicians at IVF Saint Germain are experienced with this and fully understand the complexities and value of PGD/PGS. We will make sure you are informed completely to allow you to make the best decision in your management.