Clinical trials: Noninvasive Prenatal Testing
Fetal Sex Determination
Development of a Fetal Sex Assay From Maternal Whole Blood
Whole blood from pregnant women will be collected to develop a noninvasive fetal sex test.
- Trial name
- NCT00970047
- Where
- 3 sites in United States
- Volunteers
- 500 people
- Sponsor
- Sequenom, Inc.
Aneuploidy
National Prevalence and Impact of Noninvasive Prenatal Testing
Information on pregnant women undergoing non-invasive prenatal testing (NIPT) at one of the Obstetrix Medical Groups Outpatient Centers between January 2012 and June 2014 will be retrospectively gathered and an analysis of the…
- Trial name
- NCT02284399
- Testing
- non-invasive prenatal testing
- Where
- 7 sites in United States
- Volunteers
- 4,488 people, healthy volunteers welcome
- Sponsor
- Obstetrix Medical Group
Genetic Disease, Genetic Syndrome
Ensuring Patients' Informed Access to Noninvasive Prenatal Testing
Noninvasive prenatal genetic testing (NIPT) is an important new screening test option provided to pregnant women in the first trimester of pregnancy.
- Conditions
- Genetic Disease, Genetic Syndrome, Prenatal Disorder, Prenatal Maternal Abnormality
- Trial name
- NEST (NCT03420274)
- Testing
- NEST, Usual care
- Where
- 2 sites in United States
- Volunteers
- 691 people
- Sponsor
- The Cleveland Clinic
Rhesus D Genotype
Evaluation of a Noninvasive Fetal RHD Genotyping Test
This study will collect whole blood samples from pregnant subjects who are RhD negative by serology to develop an assay for RHD determination of the fetus.
- Trial name
- IRIS (NCT01054716)
- Where
- 5 sites in United States
- Volunteers
- 500 people
- Sponsor
- Sequenom, Inc.
Genetic Counseling
Noninvasive Prenatal Testing
Before and after a patient receives genetic counseling they will be offered the chance to complete the survey, by their counselor.
- Trial name
- NCT02586428
- Testing
- what patients elect noninvasive prenatal testing (NIPT)
- Where
- United States
- Volunteers
- 33 people
- Sponsor
- St. Louis University
Chromosome Disorders
Noninvasive Prenatal Diagnosis: Using Fetal Cells From Maternal Blood
This purpose of this study is to develop noninvasive methods of prenatal diagnosis. Fetal cells can be found in maternal blood. This study is designed to isolate these fetal cells from a sample of the pregnant woman's blood and…
- Trial name
- NCT00064597
- Where
- 5 sites in United States
- Volunteers
- 3,500 people
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Pregnancy
A Study Collecting Blood Samples From Pregnant Women to Aid in the Development of a Noninvasive Prenatal Test
The purpose of this study is to collect whole blood samples from women with viable pregnancies of at least 10 weeks gestation (at any risk for fetal chromosomal anomaly) for future testing with an investigational noninvasive…
- Trial name
- NCT03620110
- Where
- 8 sites in United States
- Volunteers
- 2,209 people
- Sponsor
- Illumina, Inc.
Trisomy 21 in Fetus
Clinical Performance of NIPT in Multiple Gestation Pregnancies
This study plans to evaluate the clinical performance of the MaterniT21 PLUS and/or GENOME Laboratory Developed Test, in the detection of fetal trisomy 21 in circulating cell-free DNA extracted from maternal blood samples…
- Trial name
- NCT04488393
- Testing
- MaterniT21 PLUS and GENOME Laboratory-Developed Tests
- Where
- United States
- Volunteers
- 2,000 people
- Sponsor
- University of Pennsylvania
Trisomy 21
Diagnosis Accuracy of Noninvasive Screening by PCR Digital for Down Syndrom
The main objective of this study is to estimate the intrinsic diagnostic qualities of the digital dPCR in the screening of T21 from a multicentrique sample of patients with pregnancies at high risk of T21 (risk > 1/250).
- Trial name
- DIgiT21 (NCT02872948)
- Testing
- Diagnostic
- Where
- France
- Volunteers
- 1,260 people
- Sponsor
- University Hospital, Grenoble
Copy Number Variations
Development of a NIPTT for Detecting Copy Number Variations
To collect whole blood samples from pregnant women for the purpose of developing, optimizing and evaluating laboratory-developed noninvasive prenatal test (NIPT) for the detection of fetal chromosomal abnormalities of interest…
- Trial name
- NCT04774640
- Testing
- MaterniT GENOME
- Where
- United States
- Volunteers
- 9 people
- Sponsor
- Sequenom, Inc.
Down Syndrome, Edwards Syndrome
Clinical Performance of the MaterniT21 PLUS LDT in Multiple Gestation Pregnancies
This study will evaluate the clinical performance of massively parallel sequencing (MPS) using the MaterniT21 PLUS LDT in the detection of fetal aneuploidy in circulating cfDNA extracted from a maternal blood sample obtained from…
- Conditions
- Down Syndrome, Edwards Syndrome, Patau Syndrome, Turner Syndrome
- Trial name
- NCT02226315
- Where
- United States
- Volunteers
- 50 people
- Sponsor
- Sequenom, Inc.
Down Syndrome, Fetal Aneuploidy
Specimen Collection From Pregnant Women at Increased Risk for Fetal Aneuploidy
The specimen collection is designed for the purpose of the development of a noninvasive prenatal test for T21.
- Trial name
- NCT01429389
- Where
- 14 sites in United States, Canada
- Volunteers
- 2,000 people
- Sponsor
- Sequenom, Inc.
Pregnancy Related
Cell- Based Noninvasive Prenatal Testing (NIPT): Single Cell Prenatal Diagnosis (SCPD)
The purpose of the overall study is to develop improved methods for recovery of fetal cells from the mother's blood in order to develop a clinically useful form of cell-based, diagnostic, noninvasive prenatal testing (NIPT).
- Trial name
- NIPT & SCPD (NCT05076734)
- Testing
- Redraw for analysis of blood samples from healthy pregnant women
- Where
- United States
- Volunteers
- 157 people, healthy volunteers welcome
- Sponsor
- Luna Genetics
Down Syndrome, Fetal Aneuploidy
Clinical Evaluation of the SEQureDx T21 Test In High Risk Pregnancies
Whole blood samples will be collected from high-risk pregnant women to validate the clinical performance of the SEQureDx Trisomy 21 Test.
- Trial name
- NCT01555346
- Where
- 29 sites in United States, Canada
- Volunteers
- 3,062 people
- Sponsor
- Sequenom, Inc.
Aneuploidy, Down Syndrome
Clinical Evaluation of the SEQureDx Trisomy Test in Low Risk Pregnancies
Pregnant women with low risk indicators for fetal chromosomal aneuploidy will be enrolled. Study blood will be collected in the first or second trimester at a scheduled prenatal screening visit, processed to plasma, and stored…
- Conditions
- Aneuploidy, Down Syndrome, Noninvasive Prenatal Screening
- Trial name
- NCT01597063
- Testing
- SEQureDx Trisomy Test
- Where
- 27 sites in United States
- Volunteers
- 3,333 people
- Sponsor
- Sequenom, Inc.
Delivery of Health Care, Genetic Testing
Supporting Just-In-Time Consent for Prenatal Screening: The INFORM Study
This clinical trial is about prenatal genetic screening. It will test an intervention to help people make decisions about screening. The intervention is a short set of information cards about screening.
- Conditions
- Delivery of Health Care, Genetic Testing, Humans, Pregnancy
- Trial name
- NCT07557303
- Testing
- Mobile-based Educational Intervention
- Where
- 3 sites in United States
- Volunteers
- 1,400 people, healthy volunteers welcome
- Sponsor
- Case Western Reserve University
Down Syndrome, Edwards Syndrome
Expanded Noninvasive Genomic Medical Assessment: The Enigma Study
In January 2007, the American Congress of Obstetricians and Gynecologists (ACOG) revised its guidelines that now recommend physicians are ethically obligated to fully inform all pregnant women that screening for fetal chromosomal…
- Conditions
- Down Syndrome, Edwards Syndrome, Patau Syndrome, Klinefelter Syndrome
- Trial name
- NCT02787486
- Testing
- Blood sampling for Laboratory Developed Test (LDT) analysis
- Where
- 8 sites in United States
- Volunteers
- 760 people
- Sponsor
- Progenity, Inc.
Rhesus D Genotype
A Noninvasive Test for Fetal RHD Genotype
The objective of this study is to evaluate the performance of Sequenom's noninvasive test for fetal RHD genotype. The test uses MALDI-TOF mass spectrometry to detect DNA.
- Trial name
- NAFTnet RHD (NCT00871195)
- Where
- 13 sites in United States, Canada
- Volunteers
- 520 people
- Sponsor
- Sequenom, Inc.
Copy Number Abnormality, Prenatal Diagnosis
Technology Development for Noninvasive Prenatal Genetic Diagnosis Using Whole Fetal Cells From Maternal Peripheral Blood
Amniocentesis (amnio) and chorionic villus sampling (CVS) can reliably detect many smaller DNA/genetic abnormalities that cannot be reliably diagnosed by cell-free noninvasive prenatal testing (NIPT) that is in widespread use.
- Conditions
- Copy Number Abnormality, Prenatal Diagnosis, Genetic Disease
- Trial name
- NCT04285814
- Testing
- Whole Fetal Cell (WFC) Testing
- Where
- 2 sites in United States
- Volunteers
- 33 people, healthy volunteers welcome
- Sponsor
- Columbia University
Down Syndrome, Trisomy 21
A New Prenatal Blood Test for Down Syndrome
The study will examine the sensitivity and specificity of a circulating cell-free nucleic acid test (DNA/RNA) to identify Down syndrome between about 10 weeks and 21 weeks 6 days gestation.
- Trial name
- RNA (NCT00877292)
- Where
- 27 sites in United States, Argentina and 8 more
- Volunteers
- 4,664 people
- Sponsor
- Women and Infants Hospital of Rhode Island