Prenatal Testing and Guidelines

PreventionGenetics offers prenatal testing for samples collected from an ongoing pregnancy (please see postnatal test requirements for a sample collected from a POC). Given the delicate nature of genetic testing in this context, we will only accept the following indications for testing:

  • Fetal anomaly identified through abnormal prenatal screening, testing, or ultrasound findings
  • Known familial variant(s) classified as a VUS or higher
  • For CMA orders: advanced maternal age (AMA), high-risk NIPS or maternal serum screening result, or when invasive fetal testing is or has already been performed

Please be aware that we will not perform fetal testing for the indications of absence of heterozygosity (AOH), advanced paternal age (APA), family history in the absence of a known familial variant, or parental anxiety.

We strongly encourage you to contact our client services team to make them aware of your intended testing strategy before sample submission, and review our testing requirements below:

Ordering Checklist

Note, testing will not be initiated until all requirements are met and all required samples received.

Prenatal Targeted (#990) Prenatal Gene Panel Sequencing Prenatal WES Prenatal CMA
Prenatal TRF Prenatal WES requisition STRONGLY preferred
Signed HCP Form
Indication of Fetal Anomaly (ROH/AOH, family history, parental anxiety are not accepted.) (ROH/AOH, family history, parental anxiety are not accepted.)
Prenatal Sample
Parental Sample
Positive Control(s) (Must be relative to fetus.) (When family history is endorsed.)
Fetal Cell Cultures

Prenatal testing is run STAT by default. Please indicate if testing should be run at a standard priority when placing your order. The average TAT provided in the test options below reflect the STAT time frame.

Note: Prenatal CMA and cell cultures cannot be canceled once a sample is received. In general, once a sample is sequenced and we have data on the patient in our system, we are unable to offer test cancellations. If you need to cancel a test that has not advanced in the testing process, please contact our client services department. Testing placed on hold will extend overall TAT. Testing placed on hold within 48 hours of receipt is eligible for cancellation.

Familial Variant Testing
TEST CODE 990

See our Targeted Testing page for additional test details and ordering.

Accepted Indications

  • There is a known familial variant classified internally as VUS, likely pathogenic, or pathogenic in a first-degree relative of the fetus

A clinical or biochemical diagnosis of genetic disease is not an accepted indication for testing, and familial variants must be known in advance and confirmed at PreventionGenetics. When needed, we recommend ordering family member testing STAT to ensure an expedited analysis.

Testing requirements

  • Fetal sample
  • Parental sample (preferably maternal for MCC studies)
  • Positive control sample(s)
  • Completed Prenatal Test Requisition Form with signed Healthcare Provider (HCP) Statement

Testing Recommendations

  • Maintenance of back-up cell culture

CNV Analysis via Chromosomal Microarray (CMA)
SEE DEL/DUP ARRAY TESTS

We will perform CMA - Rapid Prenatal for ongoing pregnancies. See our full Test Descriptions for additional test details and limitations.

Accepted Indications

  • Advanced maternal age (AMA)
  • Abnormal fetal ultrasound findings
  • High-risk result on NIPS
  • Abnormal maternal serum screening
  • Family history of microdeletion, -duplication, balanced, or unbalanced translocation
  • When invasive prenatal testing is or has already been performed

Testing Requirements

  • Fetal sample
  • Parental sample (preferably maternal for MCC studies)
  • Indication for testing
  • Completed Prenatal Test Requisition Form with signed Healthcare Provider (HCP) Statement

Testing Recommendations

  • Please call client services to discuss the case and prepare the lab for sample arrival

Prenatal PGxome
SEE PRENATAL PGXOME TEST DESCRIPTION

We will perform WES for ongoing pregnancies when there is an indication (usually ultrasound or other) of a fetal anomaly. See our full Test Description for additional test details and limitations. PGxome tests for ongoing pregnancies require cultured cells.

Accepted Indications

  • Abnormal fetal ultrasound findings

Testing Requirements

  • Fetal sample
  • Parental sample (preferably maternal for MCC studies)
  • For Duo/Trio analyses: comparator sample(s) - testing cannot be initiated until these are received 
  • Indication for testing and detailed clinical notes
  • Maintenance of a back-up cell culture
  • Completed Prenatal Test Requisition Form with signed Healthcare Provider Statement

Testing Recommendations

  • Please call client services to discuss the case and prepare the lab for sample arrival

NextGen Sequencing
SEE PRENATAL PRICES LISTED ON OUR WEBSITE

We will perform NextGen sequencing (NGS) tests for ongoing pregnancies when there is an indication (usually ultrasound or other) of a fetal anomaly. See our test-specific descriptions for additional test details and limitations. NGS tests for ongoing pregnancies require cultured cells.

Accepted Indications

  • Abnormal fetal ultrasound findings consistent with disorders tested for on the panel
  • Abnormal fetal test results (excluding ROH/AOH)
  • Fetus is an obligate carrier for a recessive condition because one biological parent is affected

Testing Requirements

  • Fetal sample
  • Parental sample (preferably maternal for MCC studies)
  • For Duo/Trio analyses: comparator sample(s)
  • Indication for testing that is consistent with the gene(s) of interest
  • Maintenance of a back-up cell culture
  • Completed Prenatal Test Requisition Form with signed Healthcare Provider Statement

Testing Recommendations

  • Please call client services to discuss the case and prepare the lab for sample arrival

Full Gene Sanger Sequencing
SEE PRENATAL PRICES LISTED ON OUR WEBSITE

We will perform full gene Sanger sequencing tests for ongoing pregnancies when there is an indication (usually ultrasound or other indication) of fetal anomaly. See our test-specific descriptions for additional test details and limitations.

Accepted Indications

  • Abnormal fetal ultrasound findings consistent with disorders tested for on the panel
  • Abnormal fetal test results
  • Fetus is an obligate carrier for a recessive condition caused by variants in a paralogous gene because one biological parent is affected

Testing Requirements

  • Fetal sample
  • Parental sample (preferably maternal for MCC studies)
  • Indication for testing consistent with the gene(s) of interest
  • Completed Prenatal Test Requisition Form with signed Healthcare Provider Statement

Testing Recommendations

  • Please call client services to discuss the case and prepare the lab for sample arrival
  • Maintenance of back-up cell culture

CNV Analysis via Gene-Centric aCGH Test
SEE PRENATAL PRICES LISTED ON OUR WEBSITE

We will perform gene-centric aCGH for prenatal specimens when there is an indication (usually ultrasound or other) of a fetal anomaly. At this time MLPA is not validated for prenatal specimen types. Please contact our Genetic Counseling Team to discuss any familial CNV situations. See our full Test Description for additional test details and limitations.

Accepted Indications

  • Abnormal fetal ultrasound findings
  • Abnormal fetal test results

Testing Requirements

  • Fetal sample
  • Parental sample (preferably maternal for MCC studies)
  • Indication for testing consistent with the gene(s) of interest
  • Completed Prenatal Test Requisition Form with signed Healthcare Provider Statement

Testing Recommendations

  • Please call client services to discuss the case and prepare the lab for sample arrival
  • Maintenance of back-up cell culture

Accepted Specimens