Prenatal testing

By ordering a prenatal diagnostic test on your patient and sending Blueprint Genetics a fetal sample, you agree that:

  • You take responsibility for the appropriateness of the requested testing.
  • You have explained the purpose of the prenatal testing you have requested to the patient.
  • You have provided appropriate genetic counseling to the patient.
  • The patient had an opportunity to ask questions as they arose.
  • You are responsible for obtaining and documenting written or verbal informed consent ensuring your patient understands the risks, benefits and limitations of the testing you have requested in addition to the implications of the results.
  • You have arranged for maternal cell contamination (MCC) studies to be performed to rule out significant maternal cell contamination as MCC can affect the performance of prenatal diagnostic testing and interpretation of test results.
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For ongoing pregnancies where the sample is fetal in origin, we will perform:

  • Panel testing for diagnostic purposes
  • Single gene testing for diagnostic purposes
  • Family Variant Testing (FVT)
    • If known familial variant testing is requested for a previously identified CNV, we are unable to test for the CNV via dPCR due to the sample quality of DNA extracted from prenatal samples. We will instead do single gene NGS for the detection of previously identified CNVs. If requested on the requisition, we will limit our report to the variants previously identified in the family. For pricing, please refer to our regular fee schedule.
    • Familial Variant Testing for mitochondrial variants is not available for prenatal samples. 

We do not offer the following tests for prenatal samples from ongoing pregnancies:

  • Mitochondrial Genome Test
  • Targeted Variant Testing (TVT)
  • Familial Variant Testing for CNV variants
  • Familial Variant Testing for mitochondrial variants
  • Familial Variant Testing for variants when index testing was done outside of Blueprint Genetics 
  • Development Disorder Panel
  • Whole Exome Sequencing

All of our tests are available for fetal samples from terminated pregnancies. 

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Prenatal testing is time sensitive. For this reason, Blueprint Genetics only performs prenatal FVT when the index patient was tested at Blueprint Genetics. We will accept samples from terminated pregnancies, spontaneous losses, or stillbirths.

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At this time, we do not perform WES for prenatal samples from ongoing pregnancies. We will accept samples for WES from terminated pregnancies, spontaneous losses, or stillbirths where there is an indication for WES.

Our WES turnaround time is up to 8-10 weeks.  We will make every effort to prioritize WES when there are implications for an ongoing pregnancy. In such cases, WES Family (WES trio) is strongly recommended.

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We do not perform prenatal testing for:

  • Fetal sex determination
  • Preimplantation diagnosis
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We will accept the following samples for prenatal testing:

  • DNA extracted from direct or cultured amniocytes or chorionic villi (MCC required)
  • DNA extracted from fresh or frozen fetal tissue obtained after birth/delivery (MCC not required)
  • DNA extracted from fetal blood (MCC required)
  • Umbilical cord blood after birth/delivery (MCC studies at client’s discretion)

Currently we are not able to perform cell culturing, and therefore do not accept direct or cultured amniotic fluid or chorionic villi. We do not accept DNA extracted from fetal liver or formalin fixed or paraffin embedded samples.

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At this time, we do not perform MCC. We therefore require that MCC studies be performed locally if the DNA source is chorionic villi (CVS), amniocytes, placenta, amniotic fluid, products of conception (POC) or fetal blood.

MCC studies can be done prior to sending the prenatal sample to Blueprint Genetics or concurrently. Please indicate on the requisition that MCC is negative or is pending to ensure timely processing and testing of the fetal sample.

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The typical TAT for panel testing and for Familial Variant Testing (FVT) (where the variant has been previously identified at our laboratory) is approximately 3-4 weeks and 2-4 weeks, respectively, from the receipt of sample and confirmation of payment/funding.

At this time, we do not offer a formal priority testing service; however, our laboratory will make every effort to prioritize fee for service testing of fetal samples or samples when there is an ongoing pregnancy.

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There is currently no additional charge for prenatal testing.

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In order to perform prenatal testing, we require the following:

  • Fully completed Nucleus order or paper requisition
  • Extracted fetal DNA (fetal samples should be labeled with sticker including two unique identifiers that clearly distinguish the fetal samples from the maternal samples–further sample requirements can be found here)
  • Maternal cell contamination studies must be performed locally (indicate MCC is ongoing or complete on the requisition to avoid delays in processing and testing)
  • Signed consent form
  • Retention of a back-up culture is strongly recommended
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We will report pathogenic or likely pathogenic variants in addition to variants of uncertain significance (VUS) felt to be related to the reported phenotype. We do not report likely benign or benign variants.

Please note that there are some panels that include genes where bi-allelic variants cause a childhood onset condition but where a single heterozygous variant causes an increased risk for an adult onset condition, eg, the Limb Malformations Panel includes BRCA2.  Bi-allelic variants are associated with Fanconi anemia while heterozygous pathogenic/likely pathogenic variants are associated with an increased risk of breast and ovarian cancer. It is the responsibility of the ordering health care provider to be aware of the genes on the selected panel and to counsel their patient accordingly.

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We will do prenatal testing for one or more VUS.  Genetic counseling is strongly recommended prior to testing and after results are available to ensure the patient is aware of the risks and limitations of prenatal testing for a VUS. It is important to note that clinical decisions should not be made based on the presence or absence of a VUS.

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No, we do not perform paternity testing.

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Please note the options for DNA storage at Blueprint Genetics on our consent form. If you wish the fetal sample returned to you after testing is complete, please see our policy for Sample return (FAQ>Shipping) or contact our Customer Support Team at support@blueprintgenetics.com.

Content last modified: 14 July 2022