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• Aneuploidy Rates of in Vitro Matured Oocytes

  NCT03860064

  Condition:   Aneuploidy
  Intervention:   Other: Non intervention
  Sponsor:   IVI Barcelona
  Recruiting
• Pregnancy and Developmental Outcomes After Transfer of Reportedly Aneuploid or Mosaic Embryos

  NCT04109846

  Conditions:   Aneuploidy;   Mosaicism
  Interventions:   Other: Non-euploid embryo transfer;   Other: Euploid Transfer
  Sponsor:   Stanford University
  Recruiting
• First Trimester Risk Assessment Based on Ultrasound and Cell-free DNA vs Combined Screening

  NCT04077060

  Condition:   Aneuploidy
  Interventions:   Diagnostic Test: NIPT;   Diagnostic Test: combined screening
  Sponsor:   Federico II University
  Recruiting
• PErsonalized Genomics for Prenatal Abnormalities Screening USing Maternal Blood

  NCT03831256

  Conditions:   Prenatal Disorder;   Aneuploidy
  Interventions:   Diagnostic Test: Traditional integrated prenatal screening;   Diagnostic Test: Second-tier Non-invasive prenatal screening (NIPS);   Diagnostic Test: First-tier Non-invasive prenatal screening (NIPS);   Diagnostic Test: Invasive prenatal testing for fetal aneuploidy
  Sponsors:   CHU de Quebec-Universite Laval;   Genome Quebec;   Genome British Columbia;   Genome Alberta;   Ontario Research Fund;   Laval University;   St. Justine's Hospital;   Ottawa Hospital Research Institute;   McGill University;   University of British Columbia;   University of Alberta;   Genome Canada;   Canadian Institutes of Health Research (CIHR)
  Not yet recruiting
• Ultrasonographic Fetal Soft Markers and Aneuploidy

  NCT03861520

  Condition:   Soft Markers
  Interventions:   Device: Midtrimester anomaly scan;   Genetic: Fetal Karyotyping
  Sponsor:   Cairo University
  Recruiting
• Preimplantation Genetic Testing for Aneuploidies in Patients With Recurrent Implantation Failure

  NCT03900780

  Condition:   Recurrent Implantation Failure
  Interventions:   Procedure: PGT-A;   Procedure: Control
  Sponsor:   Universitaire Ziekenhuizen Leuven
  Not yet recruiting
• Embryo Aneuploidies and Morphokinetics in Ovarian Stimulated and Non Stimulated IVF Cycles

  NCT03128580

  Condition:   Euploid Embryos
  Intervention:  
  Sponsor:   Instituto Valenciano de Infertilidad, IVI VALENCIA
  Recruiting
• Screening of Low Responders for Aneuploidy to Improve Reproductive Efficiency

  NCT01977144

  Condition:   Infertility
  Intervention:   Other: Comprehensive Chromosomal Screening
  Sponsor:   Reproductive Medicine Associates of New Jersey
  Recruiting
• Prenatal Computer-Aided Genetics Education Module

  NCT03449225

  Conditions:   Autosomal Recessive Disorder;   Aneuploidy
  Intervention:   Other: Computer-Aided Genetic Education Module
  Sponsor:   Wayne State University
  Recruiting
• Multi-center Study to Validate niPGT-A

  NCT03520933

  Conditions:   Aneuploidy;   Chromosome Abnormality;   Infertility
  Interventions:   Diagnostic Test: PGT-A;   Diagnostic Test: niPGT-A
  Sponsor:   Igenomix
  Recruiting
• Use of Videos to Improve Patient Knowledge on Prenatal Genetics

  NCT03816423

  Conditions:   Aneuploidy;   Birth Defect
  Intervention:   Other: video
  Sponsors:   University of South Florida;   Tampa General Hospital
  Not yet recruiting
• The Effect of Acupuncture on Pregnancy Rates in Women Undergoing in Vitro Fertilization With Preimplantation Genetic Screening

  NCT03981120

  Conditions:   Infertility;   Aneuploidy
  Intervention:   Procedure: Laser and Traditional Acupuncture
  Sponsor:   University of British Columbia
  Not yet recruiting
• Clinical Value of Mosaicism Diagnosis on the Trophectoderm Biopsies

  NCT03673592

  Conditions:   Aneuploidy;   Chromosome Abnormality
  Intervention:   Diagnostic Test: PGT-A
  Sponsor:   Igenomix
  Recruiting
• Study to Validate niPGT-A Clinical Benefit (niPGT-A_RCT)

  NCT04000152

  Conditions:   Aneuploidy;   Chromosome Abnormality;   Infertility
  Interventions:   Diagnostic Test: niPGT-A;   Other: Morphology criteria
  Sponsor:   Igenomix
  Not yet recruiting
• Application of UCAD for Diagnosing Urothelial Carcinoma.

  NCT03998371

  Conditions:   Urothelial Carcinoma;   Diagnoses Disease;   Chromosomal Abnormality;   Urine Marking
  Intervention:   Diagnostic Test: Low-coverage whole-genome sequencing of urine exfoliated cells
  Sponsor:   Changhai Hospital
  Recruiting
• Brain Imaging of Childhood Onset Psychiatric Disorders, Endocrine Disorders and Healthy Volunteers

  NCT00001246

  Conditions:   XXY (Klinefelter);   Sex Chromosome Variation;   Sex Chromosome Aneuploidy;   XXXY;   XXXXXY;   XYY (Jacob);   XXYY;   X (XO, Turner);   XXX (Trisomy X, Triple X);   XXXX (Tetrasomy X);   XXXXX (Pentasomy X)
  Intervention:  
  Sponsor:   National Institute of Mental Health (NIMH)
  Recruiting
• The eXtroardinarY Babies Study: Natural History of Health and Neurodevelopment in Infants and Young Children With Sex Chromosome Trisomy

  NCT03396562

  Conditions:   Klinefelter Syndrome;   Trisomy X;   XYY Syndrome;   XXXY and XXXXY Syndrome;   Xxyy Syndrome;   Xyyy Syndrome;   Xxxx Syndrome;   Xxxxx Syndrome;   Xxxyy Syndrome;   Xxyyy Syndrome;   Xyyyy Syndrome;   Male With Sex Chromosome Mosaicism
  Intervention:   Other: Assessments of Development and Growth
  Sponsor:   University of Colorado, Denver
  Recruiting
• The Clinical Study of Sex Chromosome Variants

  NCT01661010

  Conditions:   Male Factor Infertility;   Female Factor Infertility
  Intervention:  
  Sponsor:   National Human Genome Research Institute (NHGRI)
  Recruiting
• First Trimester Screening for Trisomy 21, 18, 13 and 22q11.2 Deletion Syndrome

  NCT03375359

  Condition:   Pregnancy
  Intervention:   Diagnostic Test: cfDNA screening
  Sponsor:   University Hospital Tuebingen
  Recruiting
• Growth Hormone Treatment in Children With Phelan McDermid Syndrome

  NCT04003207

  Condition:   Phelan McDermid Syndrome
  Intervention:   Drug: Recombinant human Growth hormone
  Sponsor:   Swathi Sethuram
  Recruiting
• Piloting Treatment With Intranasal Oxytocin in Phelan-McDermid Syndrome

  NCT02710084

  Condition:   Phelan-McDermid Syndrome
  Interventions:   Drug: Oxytocin;   Drug: Saline
  Sponsor:   Alexander Kolevzon
  Recruiting
• Development of Non-invasive Prenatal Screening Test for Microdeletions Based on Fetal DNA Isolated From Maternal Blood

  NCT01852708

  Conditions:   Trisomy 21;   Trisomy 18;   Trisomy 13;   Sex Chromosome Abnormalities;   Microdeletion Syndromes
  Intervention:  
  Sponsor:   Natera, Inc.
  Recruiting
• Cognitive Orientation to Daily Occupational Performance and Conductive Education Approaches on Down Syndrome

  NCT03687619

  Condition:   Down Syndrome, Trisomy 21
  Interventions:   Other: CO-OP;   Other: Conductive Education
  Sponsor:   Eastern Mediterranean University
  Recruiting
• JASPER Intervention in Down Syndrome

  NCT03653143

  Condition:   Down Syndrome, Trisomy 21
  Intervention:   Behavioral: JASPER
  Sponsor:   Boston Children’s Hospital
  Recruiting
• Learning by Repetitive Viewing of Peer Modeling Patient Education Videos by Adults With Down Syndrome

  NCT03551418

  Conditions:   Down Syndrome;   Trisomy 21
  Intervention:   Behavioral: Watching a video
  Sponsor:   Advocate Health Care
  Recruiting
• AMO-01 to Treat Adolescents and Adults With Phelan-McDermid Syndrome (PMS) and Co-morbid Epilepsy

  NCT03493607

  Conditions:   Phelan-McDermid Syndrome;   Epilepsy
  Intervention:   Drug: AMO-01
  Sponsor:   Alexander Kolevzon
  Recruiting
• Mapping the Phenotype in Adults With Phelan-McDermid Syndrome

  NCT03426059

  Conditions:   Phelan-McDermid Syndrome;   Autism Spectrum Disorder;   Intellectual Disability
  Intervention:   Other: No Intervention
  Sponsors:   Boston Children’s Hospital;   Phelan-McDermid Syndrome Foundation
  Recruiting
• Clinical Trial in 22q13 Deletion Syndrome(Phelan-McDermid Syndrome)

  NCT01525901

  Conditions:   22q13 Deletion Syndrome;   Phelan-McDermid Syndrome
  Interventions:   Drug: Insulin-Like Growth Factor-1 (IGF-1);   Drug: Normal saline
  Sponsors:   Icahn School of Medicine at Mount Sinai;   National Institute of Mental Health (NIMH)
  Recruiting
• The Crnic Institute Human Trisome Project Biobank

  NCT02864108

  Conditions:   Down Syndrome;   Trisomy 21
  Intervention:  
  Sponsors:   University of Colorado, Denver;   Linda Crnic Institute for Down Syndrome
  Recruiting
• Response-Based Chemotherapy in Treating Newly Diagnosed Acute Myeloid Leukemia or Myelodysplastic Syndrome in Younger Patients With Down Syndrome

  NCT02521493

  Conditions:   Acute Myeloid Leukemia;   Blasts 5 Percent or More of Bone Marrow Nucleated Cells;   Cytopenia;   Down Syndrome;   Myelodysplastic Syndrome;   Myeloid Leukemia Associated With Down Syndrome;   Myeloproliferative Neoplasm;   Trisomy 21;   Trisomy 21 Mosaicism
  Interventions:   Drug: Asparaginase;   Drug: Asparaginase Erwinia chrysanthemi;   Drug: Cytarabine;   Drug: Daunorubicin;   Drug: Daunorubicin Hydrochloride;   Drug: Etoposide;   Other: Laboratory Biomarker Analysis;   Drug: Mitoxantrone;   Drug: Mitoxantrone Hydrochloride;   Drug: Thioguanine
  Sponsors:   Children's Oncology Group;   National Cancer Institute (NCI)
  Recruiting
• At-Home Research Study for Patients With Autoimmune, Inflammatory, Genetic, Hematological, Infectious, Neurological, CNS, Oncological, Respiratory, Metabolic Conditions

  NCT01931644

  Conditions:   All Diagnosed Health Conditions;   ADD/ADHD;   Alopecia Areata;   Ankylosing Spondylitis;   Asthma;   Atopic Dermatitis Eczema;   Beta Thalassemia;   Bipolar Disorder;   Breast Cancer;   Celiac Disease;   Cervical Cancer;   Chronic Inflammatory Demyelinating Polyneuropathy;   Chronic Kidney Diseases;   Chronic Obstructive Pulmonary Disease;   Colon Cancer;   Colorectal Cancer;   Crohn's Disease;   Cystic Fibrosis;   Depression;   Diabetes Mellitus;   Duchenne Muscular Dystrophy;   Endometriosis;   Epilepsy;   Facioscapulohumeral Muscular Dystrophy;   G6PD Deficiency;   General Anxiety Disorder;   Hepatitis B;   Hereditary Hemorrhagic Telangiectasia;   HIV/AIDS;   Human Papilloma Virus;   Huntington's Disease;   Idiopathic Thrombocytopenic Purpura;   Insomnia;   Kidney Cancer;   Leukemia;   Lung Cancer;   Lupus Nephritis;   Lymphoma;   Melanoma;   Multiple Myeloma;   Multiple Sclerosis;   Myositis;   Myotonic Dystrophy;   Ovarian Cancer;   Pancreatic Cancer;   Parkinson's Disease;   Polycystic Kidney Diseases;   Prostate Cancer;   Psoriasis;   Psoriatic Arthritis;   Rosacea;   Scleroderma;   Sickle Cell Anemia;   Sickle Cell Trait;   Sjogren's Syndrome;   Skin Cancer;   Spinal Muscular Atrophy;   Systemic Lupus Erythematosus;   Thrombotic Thrombocytopenic Purpura;   Trisomy 21;   Ulcerative Colitis
  Intervention:  
  Sponsor:   Sanguine Biosciences
  Recruiting
• Trisomy 21 in Adulthood

  NCT01663675

  Condition:   Down Syndrome
  Intervention:   Genetic: karyotype
  Sponsor:   University Hospital, Strasbourg, France
  Recruiting
• TESTO: Testosterone Effects on Short-Term Outcomes in Infants With XXY

  NCT03325647

  Condition:   Klinefelter Syndrome
  Interventions:   Drug: Testosterone Cypionate 200 Milligram/Milliliter Injectable Solution;   Drug: Placebo injectable saline
  Sponsors:   University of Colorado, Denver;   Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
  Recruiting
• Clinical Study PGT-A vs PGT-A+ERA

  NCT03530254

  Condition:   Infertility of Uterine Origin
  Interventions:   Diagnostic Test: PGT-A;   Diagnostic Test: ERA Test
  Sponsor:   Igenomix
  Recruiting