Clinical trials: Neonatal Screening
Cholestasis in Newborn, Biliary Atresia
The Dirty Nappy Study
This observational study evaluates whether a machine-learning algorithm, a computer program that learns patterns from data, can accurately diagnose cholestasis in newborns.
- Conditions
- Cholestasis in Newborn, Biliary Atresia, Neonatal Cholestasis
- Trial name
- NCT07697872
- Where
- United Kingdom
- Volunteers
- 5,350 people, healthy volunteers welcome
- Sponsor
- Birmingham Women's and Children's NHS Foundation Trust
2D Ultrasound, Cavum Septum Pellucidum
Screening of Septo-optic Dysplasia During a Fetal Examination at 16-20 Weeks of Gestation
Evaluation of prenatal optic chiasm (OC) is important for the differential diagnosis of septo-optic dysplasia (SOD), which is a congenital optic disc anomaly, and the absence of the cavum septum pellucidum (CSP).
- Conditions
- 2D Ultrasound, Cavum Septum Pellucidum, Septooptic Dysplasia, Optic Chiasma
- Trial name
- NCT05717855
- Testing
- Displaying optic chiasm for screening septooptic dysplasia
- Where
- Turkey (Türkiye)
- Volunteers
- 52 people, healthy volunteers welcome
- Sponsor
- Gaziosmanpasa Research and Education Hospital
Neonatal Congenital Heart Disease
Optimization of Two-Indicator Screening Protocol for Neonatal Congenital Heart Disease at High Altitude
This is a prospective observational screening study. First, researchers will optimize a two-indicator screening protocol for neonatal congenital heart disease (NCHD) adapted to high-altitude regions and evaluate its screening…
- Trial name
- NCT07901998
- Volunteers
- 6,300 people, healthy volunteers welcome
- Sponsor
- Children's Hospital of Fudan University
Aneuploidy, Genetic Disease
Effect of Video Education on Patients' Knowledge and Attitudes of Privacy in Prenatal Genetics
The investigators propose a randomized controlled trial to assess baseline maternal knowledge of and attitudes toward commercial prenatal genetic testing laboratories' genetic privacy practices, and to determine whether a brief…
- Conditions
- Aneuploidy, Genetic Disease, Pregnancy Related
- Trial name
- NCT04420858
- Testing
- Enhanced (experimental) education, Standard (control) education.
- Where
- United States
- Volunteers
- 162 people, healthy volunteers welcome
- Sponsor
- Women and Infants Hospital of Rhode Island
Any Single Gene Disorder (Cystic Fibrosis, Tay-Sachs)
Concurrent Single Gene and 24 Chromosome Aneuploidy Preimplantation Genetic Diagnosis (PGD)
Gene Security Network has developed a novel technology called Parental SupportTM (PS) which is used for Preimplantation Genetic Screening/Diagnosis (PGS/D) during in vitro fertilization (IVF).
- Trial name
- IVF008 (NCT01023048)
- Testing
- preimplantation diagnosis
- Where
- United States
- Volunteers
- 56 people, healthy volunteers welcome
- Sponsor
- Natera, Inc.
Urothelial Carcinoma, Lynch Syndrome
Urothelial Cancer Screening in Individuals With Lynch Syndrome Using a Urine Tumor DNA Panel (LS-URO Study)
Lynch syndrome (LS) is an inherited cancer predisposition syndrome caused by pathogenic germline variants in DNA mismatch repair (MMR) genes.
- Trial name
- NCT06218433
- Testing
- Urothelial cancer screening using urine tumor DNA test, Urothelial cancer screening using urine cytology (comparator)
- Where
- 2 sites in Canada, Finland
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- Tampere University Hospital
Spinal Muscular Atrophy, Duchenne Muscular Dystrophy
Public AttitudesTowards SMA and DMD Awareness, Newborn and Carrier Screening and Physiotherapy Practices
The addition of SMA and DMD muscle diseases to newborn screening and premarital carrier screening has been controversial. In this study, researchers aim to measure the awareness level of SMA and DMD muscle diseases of individuals…
- Conditions
- Spinal Muscular Atrophy, Duchenne Muscular Dystrophy, Healthy Individuals
- Trial name
- NCT05110885
- Testing
- Questionnaire
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- Bahçeşehir University
Fetal Anomaly, Brain Malformation
Artificial Intelligence Algorithm for the Screening of Abnormal Fetal Brain Findings at First Trimester Ultrasound Scan
Visualization of the posterior fossa brain spaces, their spatial relationship and measurements can be obtained in the midsagittal view of fetal head, the same used for NT measurement (9), and plays an important role in the early…
- Trial name
- AIRFRAME (NCT05790473)
- Testing
- Artificial Intelligence
- Where
- Italy
- Volunteers
- 10,000 people, healthy volunteers welcome
- Sponsor
- Fondazione Policlinico Universitario Agostino Gemelli IRCCS