Infertility Work Up

From IVF to pregnancy, with Preimplantation Genetic screening

The goal of preimplantation genetic screening is to ensure that embryos with the highest chance of achieving a healthy pregnancy and child are used during IVF.

• PGS detects chromosomal Numerical abnormalities prior to embryo transfer to enable informed decisions. Transferring embryos without major chromosome abnormalities increases pregnancy success and promotes the birth of healthy babies.
• Preimplantation genetic testing evaluates an embryo for genetic abnormalities or inherited diseases prior to being implanted into a woman during in vitro fertilization (IVF).
• Preimplantation genetic screening (PGS) tests an embryo for a variety of chromosomal abnormalities, which are linked to failed pregnancies and genetic disorders such as Trisomy 21 (Down syndrome).
• A normal embryo is comprised of 23 chromosomes inherited from both parents during fertilization (for a total of 46). An abnormal amount, either too many or two few, is called aneuploidy and is a major cause of birth defects and failed pregnancies

• Advanced Maternal Age = The risk of chromosomal abnormalities, such as Down Syndrome, in embryos increases with the age of the mother.
• Recurrent Miscarriage = Approximately 50% of miscarriages occur due to chromosomal abnormalities. In the case of miscarriages, 68% of embryos are chromosomally abnormal. Embryos that are chromosomally normal are more likely to result in live birth.
• Chromosome Abnormalities = While a few chromosomal abnormalities are compatible with life, these babies may be born with birth defects and cognitive impairment. PGS screening detects major chromosome abnormalities allowing informed decisions about reproductive care.
• Implantation Failure = Some chromosomal abnormalities impair the embryo's ability to implant into the uterus. Embryos that are chromosomally normal have a better chance of successful implantation.
• Male Factor Infertility = Male factor infertility (including abnormal quantity and quality of sperm) can increase the risk of chromosomal abnormalities in the embryo. PGS can aid in identifying chromosomally normal embryos.

• Decrease the possibility of miscarriage
• Minimize the risk of abnormal pregnancy
• Improve chances of a successful birth
• Increase the odds of woman age 37 or older having a successful pregnancy, as age increases the odds of chromosome abnormalities in an embryo. Indications FOR PGS / PGS can be opted when
• Advanced maternal age à The risk of chromosomal abnormalities, such as Down Syndrome, in embryos increases with the age of the mother
• Recurrent miscarriage à Approximately 50% of miscarriages occur due to chromosomal abnormalities. In the case of miscarriages, 68% of embryos are chromosomally abnormal. Embryos that are chromosomally normal are more likely to result in live birth. Chromosome abnormalitiesà While a few chromosomal abnormalities are compatible with life, these babies may be born with birth defects and cognitive impairment. PGS screening detects major chromosome abnormalities allowing informed decisions about reproductive care.
• Implantation failureà Some chromosomal abnormalities impair the embryo’s ability to implant into the uterus. Embryos that are chromosomally normal have a better chance of successful implantation.
• Male factor infertilityà Male factor infertility (including abnormal quantity and quality of sperm) can increase the risk of chromosomal abnormalities in the embryo. PGS can aid in identifying chromosomally normal embryos.

PGD is a test that can prevent the transmission of single gene disorders. Preimplantation genetic diagnosis (PGD) tests an embryo for a single, specific genetic disorder either parent may carry or be suspected of carrying, such as Huntington's disease or cystic fibrosis.

Individuals and couples who are known carriers of a specific genetic disorder or have a family history of one. They have an increased risk of having a child with that genetic disorder.

• Preimplantation genetic diagnosis (PGD) tests an embryo for a single, specific genetic disorder either parent may carry or be suspected of carrying, such as Huntington’s disease or cystic fibrosis.

Individuals and couples who are known carriers of a specific genetic disorder, or have a family history of one, have an increased risk of having a child with that genetic disorder.