CombiPGS™ Patient Consent & Payment Authorization

You and your physician have decided to proceed with Preimplantation Genetic Screening (PGS). Before CombiMatrix can proceed with testing, the consent below must be reviewed and the necessary payment information must be provided. If you have any questions regarding the consent or payment process, please contact our Billing Department at 1-800-710-0624 and press 2.

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What is Preimplantation Genetic Screening (PGS)?

Preimplantation Genetic Screening (PGS) tests a small sample of each embryo to determine which embryos are chromosomally normal. Embryos with chromosomal abnormalities may fail to implant, result in a miscarriage, or lead to the birth of a baby with a genetic disorder. This form reviews the benefits and limitations of PGS. Prior to initiating testing, CombiMatrix must receive a signed copy of this form.

Chromosomal Abnormalities

Chromosomes are the structures inside of our cells that contain the genetic information needed for our bodies to grow, develop, and maintain our health. Normally, we have 23 pairs of chromosomes (46 total) Chromosomes 1-22 are called autosomes, and are present in both males and females. The 23rd pair of chromosomes determines whether we are male (XY) or female (XX). One of the most common chromosomal abnormalities is Down syndrome, which is caused by an extra copy of chromosome 21. Other types of chromosomal abnormalities may cause implantation failure, a miscarriage, or the birth of a child with congenital anomalies and/or intellectual disabilities. The goal of PGS is to identify embryos with normal chromosomes in order to improve your chances of a healthy pregnancy.

Embryo Biopsy

In order to test an embryo for chromosome abnormalities, a small sample is needed. Your embryos will remain at the fertility center throughout the testing process. A biopsy can be performed on embryos as early as 3 days after fertilization. Day 3 biopsies (also called blastomere biopsies) involve removing a single cell from the embryo at the 8-10 cell stage of development. Alternately, embryos can be biopsied on day 5 or 6 after fertilization; this type of biopsy is called a trophectoderm biopsy. Trophectoderm biopsy involves removing several cells from the outer layer of the embryo called the trophectoderm and leaving the inner cell mass, which will become the developing baby, intact. There are benefits and limitations with Day 3 versus Day 5 biopsies. You should discuss these issues thoroughly with your fertility specialist in order to choose the option that is right for you.

Chromosomal Microarray Analysis

Chromosomal microarray analysis (CMA) is a technique that evaluates the amount of chromosomal information that is present across the entire genome, and identifies regions of missing or extra information. CMA can detect whole chromosome aneuploidies (entire extra or missing chromosomes) as well as some types of segmental aneuploidies (missing or extra segments of chromosomes). CombiMatrix uses Illumina’s 24Sure BAC aCGH (array comparative genomic hybridization), which has an ability to detect missing and extra segments of chromosomes that are larger than 20 Mb. This technology cannot identify polyploidy (an entire extra set of 23 chromosomes), balanced chromosomal rearrangements (no missing or extra chromosomal information) or alterations that are smaller than 20 Mb, including alterations such as very small insertions, deletions or point mutations, that cause single gene disorders. If you are concerned about the risk of a single gene disorder in your family, please discuss this with your fertility specialist or a genetic counselor specializing in Preimplantation Genetic Diagnosis (PGD).

Benefits of PGS

Chromosomal abnormalities are one of the most common reasons for implantation failure and miscarriages that occur within the first 12 weeks of pregnancy. Approximately 50-60% of miscarriages that occur in the first trimester are due to a fetal chromosomal abnormality. Chromosomally normal embryos may not differ in overall microscopic appearance from chromosomally abnormal embryos. This makes it challenging to identify which embryo(s) have the best chance of resulting in a successful pregnancy. By implanting a chromosomally normal embryo, the risk of implantation failure and miscarriage is significantly reduced.

Risks and Limitations of PGS

Embryo Biopsy-Related Risks
PGS has been used successfully in tens of thousands of pregnancies worldwide, and there is no documented increase in risk for congenital malformations or developmental disorders, however, embryo biopsy does pose additional risks to the in vitro fertilization (IVF) process. It is possible that:

  • An embryo may be damaged during the biopsy process
  • One or more cells cannot be obtained from the embryo for testing
  • The biopsied cell does not contain a nucleus (the part of the cell that contains the chromosomes)

Fertility Center-Related Risks

  • No embryos (normal or abnormal) are available for transfer following biopsy
  • The incorrect embryo is transferred to the uterus
  • Despite correctly identifying and implanting a chromosomally normal embryo, an implantation failure or miscarriage occurs

Technical and Analytic Risks
While CombiMatrix employs individual bar-coding of embryos and numerous sample tracking and control procedures to minimize the risk of an error, it is possible that:

  • The cell or cells biopsied for analysis are not genetically representative of the rest of the embryo. This is a phenomenon called “mosaicism”, in which some cells in the embryo are chromosomally normal, while others are not. If the biopsied cells are not reflective of the chromosomal make-up of the rest of the embryo, this can lead to a misdiagnosis.
  • PGS is designed to detect aneuploidy (the wrong number of chromosomes) and large, >20 Mb chromosomal gains or losses. It does not detect:
    • Mutations that lead to single gene disorders, such as cystic fibrosis or sickle cell anemia.
    • Polyploidy – an entire extra set of chromosomes.
    • Uniparental disomy – chromosomal material that is inherited only from one parent and not from the other. In certain instances, this can lead to genetic disorders.
    • Balanced chromosomal rearrangements – rearrangements of chromosomal information that do not involve a net gain or loss of chromosomal information.
    • Chromosomal gains/losses <30 Mb, which still have the potential to cause a chromosomal disorder depending on the specific location and gene content.
  • A technical malfunction could occur which could prevent us from being able to provide a result.

Test Results and Interpretation

  1. An Abnormal result indicates the presence of one or more whole chromosome abnormalities (aneuploidy) or segmental chromosome abnormalities (<30 Mb).
  2. A Normal result indicates that no whole chromosome abnormalities or large segmental chromosome (<30 Mb) abnormalities were detected
    • A normal CombiPGS result does not rule out the possibility that an embryo has a genetic syndrome or chromosomal disorder.
  3. No results – this may occur for a number of reasons, including a cell with no nucleus, failure of DNA within the sample to amplify, or poor quality amplification of the DNA.

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