An observational study in Single Gene NIPT, sponsored by Natera, Inc.. Recruiting at 18 sites in United States. Open to participants aged 18 Years and older. Per ClinicalTrials.gov, last updated 2026-05-04.
Sponsored by Natera, Inc. · Observational
Help build ClinicalTrials.gg — short surveys, remote interviews or testing, in your language. Take part →
The purpose of this research is to develop and validate a single gene Non-Invasive Prenatal Test. The development of this investigational single-gene noninvasive prenatal testing (sgNIPT) for conditions such as cystic fibrosis (CF), spinal muscular atrophy (SMA), Sickle cell disease, alpha thalassemia (a-thalassemia) and beta thalassemia (b-thalassemia) could provide information about the possibility that a child will be born with a serious health condition, in some cases in the absence of reproductive partner screening.
In order to develop a test for this purpose, investigators will collect blood samples and medical information from pregnant women who have pregnancies at higher risk for single gene disorders, such as those who are carriers for these conditions or affected by these conditions themselves, medical data from their reproductive partners in some cases, and either genetic testing results or a cheek swab sample from the newborn(s).
Natera sgNIPT is intended for use in pregnant people whose fetus/ fetuses are identified as at increased risk for a single gene disorder, such as one of the disorders below, when there is no reproductive partner (paternal) screening available or when there is positive reproductive partner screening, but prenatal diagnostic testing is not an option or when there is concern for a single-gene disorder in the fetus/ fetuses irrespective of carrier status (e.g., based on fetal ultrasound findings). Disorders include:
CF (CFTR) SMA (SMN1) Alpha-thalassemia (HBA1/HBA2) Beta-hemoglobinopathies including sickle cell disease (HBB)
Natera, Inc. is the lead sponsor of 36 studies on the registry; 11 are open to participants now.
Counted across the registry records on this site, refreshed daily.
Natera sgNIPT is intended for use in pregnant people whose fetus/ fetuses are identified as at increased risk for a single gene disorder when there is no reproductive partner (paternal) screening available or when there is positive reproductive partner screening but prenatal diagnostic testing is not an option or when there is a concern for single-gene disorder in the fetus/ fetuses irrespective of carrier status (e.g., based on fetal ultrasound findings).
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
Meet the criteria for one of the following:
Exclusion Criteria:
Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Informed consent
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Device: Single-gene Noninvasive Prenatal Testing (sgNIPT)
Natera sgNIPT is intended for use in pregnant people whose 'fetus/ fetuses are identified as at increased risk for a single gene disorder when there is no reproductive partner (paternal) screening available or when there is positive reproductive partner screening, but prenatal diagnostic testing is not an option or when there is concern for a single-gene disorder in the fetus/ fetuses irrespective of carrier status (e.g., based on fetal ultrasound findings).
Performance of sgNIPT assay in the detection of primary four autosomal recessive disorders
The sgNIPT assay call, high risk or low risk; will be compared to the genetic outcome of the fetus/ fetuses Affected; or Not Affected; as determined by prenatal genetic testing, post-natal genetic testing or genetic testing performed on the newborn cheek swab sample. Sensitivity, PPV, NPV, and no call rates will be assessed.
Time frame: Following the development of the sgNIPT assay, approximately 2 years after the launch of the study
Performance of sgNIPT assay in the detection of single gene disorders other than the primary four
The sgNIPT assay call, high risk or low risk; will be compared to the genetic outcome of the fetus/ fetuses Affected; or Not Affected; as determined by prenatal genetic testing, post-natal genetic testing or genetic testing performed on the newborn cheek swab sample. Sensitivity and PPV pooled across single gene disorders other than the four primary disorders
Time frame: Following the development of the primary disorder assay, approximately 2.5 years after the launch of the study
Plan to share: No — This study is for the development of a proprietary product, therefore the individual data will not be shared.
Started Jan 2024 (actual). Primary completion is estimated for Apr 2027, 39 months after the start.
How these figures are worked out, and which studies are left out of them.
Eligibility is decided by the study team. Share this record with your doctor or contact the team directly.
Contact study teamGet an email when the registry record changes — status, dates, results — or when someone posts here.
Sign in to followQuestions and observations about this study, from anyone following it. Not medical advice, and not a channel to the study team — their contact details are on the registry record.
Sign in to join the discussion. Reading takes no account; posting does. You choose a display name, and a pseudonym is the default.
Nothing here yet. If you are running this trial, taking part in it, or weighing whether to, this is the place to say so.