Clinical Experience of FirstGene, a Combined Screening Test for Prenatal aneuploidies and Recessive Conditions

Investigating a Combined Screening Test for Prenatal Conditions

Primary Investigator
C
Christina M. Scifres, MD

Primary Investigator

Enrolling By Invitation
18 years - 100 years
Female
Phase N/A
10 participants needed
1 Location

Brief description of study

This prospective study will collect blood samples from the pregnant individual (referred to as “patient” throughout). Blood samples will be tested using either the FirstGene™ combined carrier and non-invasive prenatal screen, or the Foresight® carrier screen and the Prequel® prenatal cell-free DNA screening (pcfDNA). 

THIS STUDY IS ENROLLING BY INVITATION ONLY - This is a prospective study in which patients electing to undergo prenatal screening (carrier screening and pcfDNA) at participating sites that routinely treat patients in the first trimester will be eligible. Potentially eligible participants will be informed about the study and consented for participation by site personnel.

Detailed description of study

Patients who consent to participate will be asked to provide blood samples for FirstGene™, Foresight®, and Prequel®. Patients who consent to participate will also be asked to consider buccal swab collection on their infant/newborn after delivery. 

Buccal samples may be used for confirmation of results. Patients who opt into the buccal swab collection will have an additional site visit after the conclusion of their pregnancy for this sample collection. Sites will be provided with study kits to collect samples.

This study is expected to take approximately 2-3 years for patient enrollment, sample acquisition, and pregnancy outcomes data collection and analysis.
 

Eligibility of study

You may be eligible for this study if you meet the following criteria:

  • Conditions: Pregnant, Pregnancy
  • Age: 18 years - 100 years
  • Gender: Female

Inclusion Criteria
• Patient is at least age of legal status to consent
• Patient is pregnant
• Patient is at least 10 weeks gestation at time of testing (consent may be
obtained prior to 10 weeks gestation pending all other eligibility criteria are
satisfied)
• Patient is willing to provide informed consent and blood samples
• Provider plans to offer, and patient intends to undergo, screening for recessive
disease risk and aneuploidy risk in the fetus
• Patient is willing to allow their provider to share information on the
management and outcome of their pregnancy

Exclusion Criteria
• Patient is pregnant with higher order multiples (triplets or greater)
• Egg donor was used for current pregnancy
• Patient has a known malignancy
• Patient was a recipient of tissue donation
• The current pregnancy is known to be not viable
• Patient is known to be affected by one or more of the following conditions:
o Cystic Fibrosis
o Spinal Muscular Atrophy
o Alpha thalassemia
o Beta thalassemia

This study investigates the use of a combined screening test for prenatal aneuploidies and recessive conditions. Aneuploidies are conditions where there are extra or missing chromosomes, which can affect a baby's development. Recessive conditions are genetic disorders that occur when a child inherits two copies of a faulty gene, one from each parent. This study will collect blood samples from pregnant individuals to test using different screening methods.

Participants will provide blood samples for the investigational screening tests. After delivery, they may also provide a buccal swab from their newborn to confirm results. The study will use these samples to compare the effectiveness of different prenatal screening methods. Participants will visit the study site for sample collection and may have an additional visit for the buccal swab.

  • Who can participate: Pregnant individuals who are at least 10 weeks into their pregnancy and can legally provide consent are eligible. They must be willing to provide blood samples and allow their provider to share pregnancy management information.
  • Study details: Participants will give blood samples for the investigational tests and may also provide a buccal swab from their newborn after delivery. The study will compare different screening methods using these samples.
  • Study timelines: The study will last approximately 2-3 years.
Updated on 14 Aug 2026. Study ID: 29709
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Interested in the study?

This study is accepting only persons who receive care at a certain clinic or doctor or who are part of an invited group. Questions about this study can be directed to the study team listed in the description or contact your doctor to see if you are eligible.

Accepting Referrals by Invitation Only