This consent form reviews the benefits, risks and limitations of undergoing non-invasive prenatal screening for the conditions available through Counsyl and performed by Illumina, that has been prescribed for you. Your sample will not be processed unless you or your provider confirm that you have read and understood the contents of this form. This is a voluntary test. You may wish to seek genetic counseling prior to agreeing to this form.
This test is designed to screen for chromosome abnormalities such as Down syndrome in your current pregnancy. It is not a diagnostic test and cannot definitively detect or exclude these conditions. Results may indicate an increased or decreased risk for these conditions. Information about the conditions being screened, such as description, course, and possible treatments, may be found in the Informed Pregnancy Screen section of our website and should be discussed with your healthcare provider.
Non-invasive prenatal screening results can reduce, but cannot eliminate, the likelihood a pregnancy is affected by the targeted conditions. It is not a diagnostic test. This screen evaluates chromosome 13, chromosome 18 and chromosome 21. There are additional studies that may be ordered by your healthcare provider in his or her discretion. The Screen can evaluate chromosomes X and Y, screening for sex chromosome abnormalities and revealing the likely sex of the baby. Screening for certain chromosome deletions, called microdeletions, is also possible. Please speak with your physician regarding which version of the test is ordered for you.
Most of the conditions being evaluated occur sporadically and are not inherited through the family. There are exceptions to this, such as 22q microdeletion, and it is important for any relevant personal medical history, family history or pregnancy history to be communicated to your healthcare provider and Counsyl.
For all of the screened conditions, severity can be variable, even within family members with the same conditions.
You should check with your healthcare provider about any additional evaluations recommended during your pregnancy. The following describes the possible results outcomes for the Informed Pregnancy Screen:
Positive: An “Aneuploidy Detected” or “Aneuploidy Suspected” result indicates that your pregnancy is at increased risk to be affected by the particular condition(s) indicated (e.g. Down syndrome, trisomy 13 or 22q deletion syndrome). Your pregnancy may screen positive for more than one syndrome.
Negative: A “No Aneuploidy Detected” or “No Abnormality Detected” result indicates a significantly reduced risk for the conditions being screened. This result indicates a significantly reduced likelihood, but does not entirely eliminate the possibility, of your pregnancy being affected by one of these syndromes. In addition, this result does not guarantee that your pregnancy will be healthy or free from other adverse outcomes due to other factors.
Occasionally a result may not be possible due to an insufficient or compromised specimen. A sample drawn prior to 10 weeks gestation or that arrives at our laboratory more than 5 days after being drawn will not be analyzed. A repeat specimen may be requested.
The evaluation can be performed on twin pregnancies for chromosomes 13, chromosomes 18 and chromosomes 21, only. The presence of Y chromosome DNA will indicate that one or both of the twins is likely male, but it cannot detect abnormalities of the sex chromosomes or microdeletions in twin pregnancies. Higher order multiples (triplets, quadruplets, etc.) cannot be evaluated.
Additionally, results from pregnancies that have experienced the demise of one or more fetuses are not reliable and specimens from those pregnancies should not be submitted.
As with all medical screening tests, there is a chance of a false positive or false negative result. A “false positive” result refers to identification of an aneuploidy or abnormality that is not present. A “false negative” result is the failure to identify an aneuploidy or abnormality that does actually exist. Result interpretation is based on currently available information in the medical literature and scientific databases. Because literature and scientific knowledge are constantly being updated, new information may replace or add to the information we used to interpret your results. Counsyl does not routinely re-analyze test results or issue new test reports, and has no obligation to do so.
Your non-invasive prenatal screening results may help you and your healthcare providers make more informed medical management decisions. Any “positive” results should be followed by consulting with your healthcare provider regarding the option of pursuing diagnostic invasive testing (such as chorionic villus sampling and/or amniocentesis) and additional evaluation as well as genetic counseling. The decision of whether to pursue additional testing is entirely yours and should be made in consultation with your healthcare provider.
Genetic testing may reveal sensitive information about the health of your pregnancy or, in rare circumstances, your own health. Non-invasive prenatal screening results may lead to your healthcare provider recommending additional testing and evaluation of your pregnancy.
This test is designed to detect changes in the chromosomes of a pregnancy associated with known syndromes. It cannot detect every case, nor does it look for all known genetic diseases or syndromes. Because of this, the Informed Pregnancy Screen is risk-reducing, not risk-eliminating. Negative results do not guarantee that your offspring will be healthy. If you wish to further reduce the risk of an affected pregnancy, additional testing may be available. These additional tests may not be covered by your health insurance policy and are not available for all disorders. Some biological factors may limit the accuracy of results. Diagnostic errors may occur due to sample mix-up or contamination. Counsyl offers the option to select panels as a special service to ordering physicians. As such, Counsyl cannot be held liable for any missed syndrome detection due to omission of a disease or conditions from a healthcare provider’s order.
Samples, clinical information and test results may be stored in a repository and used for validation, educational, and/or research purposes. In addition, de-identified information may be submitted in a HIPAA-compliant manner to research databases. Samples from residents of New York State will not be included in research studies and will not be retained for more than 60 days after collection.
Any such research that results in medical advances, including new products, tests or discoveries, may have potential commercial value and may be developed and owned by Counsyl or the researchers that analyze the data. If any individuals or corporations benefit financially from studying your genetic material, no compensation will be provided to you or your heirs.Counsyl has no obligation to retain your sample indefinitely and may destroy it once it no longer has a legal duty to retain it. By consenting to this agreement, you provide authorization for Counsyl and its partners to use your sample and submitted information for the purposes described above.
If you are a patient outside the United States, you represent that by providing the samples, you are not violating any export ban or other legal restriction in the country of your residence.
Genetic information is protected under the federal Genetic Information Nondiscrimination Act, which generally prohibits health insurers and employers from discriminating against you based on your genetic information. However, you should be aware that there are certain limitations to the protections afforded by this law. By agreeing to this informed consent, you provide authorization for your results to be disclosed to your ordering physician or other covered entities for purposes of treatment, payment or health care operations and to any other party to whom you have authorized Counsyl to release your results. You acknowledge that you have read and understand Counsyl’s Notice of Privacy Practices. You agree Counsyl is not liable for the unauthorized release of your results or medical information, unless such unauthorized release was the result of gross negligence or willful misconduct on the part of Counsyl. You acknowledge that certain email, text, telephone or video communications may not be encrypted and/or secure, and unless you request that Counsyl not contact you by these means, there are risks with such unsecured communications.
You give permission to Counsyl, its contractors and assignees to perform genetic testing on the sample you provided and to disclose the results of the testing to your ordering physician and any other person you have designated. You are not an insurance company or an employer attempting to obtain information about an insured person or an employee.
Any legal action or proceeding between Counsyl and you related to this agreement or Counsyl’s products or services will be governed exclusively by the laws of the State of California. It is understood that any dispute, claim, or controversy arising in connection with this agreement or the use of Counsyl’s products or services, including, but not limited to, claims as to whether any services rendered by Counsyl or persons employed or engaged by Counsyl were unnecessary or unauthorized or were improperly, negligently, or incompetently rendered, shall be finally and exclusively resolved by binding arbitration under the American Arbitration Association’s Commercial Arbitration Rules and Mediation Procedures and Consumer-Related Disputes Supplementary Procedures, and not by a lawsuit or resort to court process, except as California law provides for judicial review of arbitration proceedings. Both parties to this agreement are giving up their constitutional right to have such dispute decided in a court of law before a jury, and instead are accepting the use of arbitration. The parties agree that the arbitrator shall have exclusive authority to resolve any dispute relating to the interpretation, applicability, enforceability or formation of this agreement to arbitrate. Any such controversy or claim shall be arbitrated on an individual basis. The arbitration shall be held in San Mateo County, California.
You understand and agree that this agreement to arbitrate binds you and anyone else who may have a claim arising out of or related to all products and services provided to you by Counsyl or persons employed or engaged by Counsyl. You may cancel this agreement to arbitrate by giving written notice to Counsyl within 30 days of the date of your acceptance. Should you choose to withdraw from the arbitration provision, all other provisions of this agreement shall remain in full force and effect.
By agreeing to this consent, I acknowledge the following:
By agreeing to this consent, I acknowledge the following:
Counsyl testing can screen for syndromes associated with several chromosome abnormalities. By agreeing to this Informed Consent, you are confirming that you understand the risks and limitations associated with non-invasive prenatal screening. Furthermore, you are affirming that you recognize the seriousness of conditions for which you are being tested, and that disease descriptions, prognoses, and treatment options have been made available to you by your physician or through our website at counsyl.com. Finally, if you have the legal authorization to provide this informed consent on behalf of another person, you are representing that the sample provided belongs to that person.