Trials Sponsors Conditions Drugs Pricing

Conditions

Fetus Disorder Mental Disorder

Keywords

M-PCRFISHMLPAdeletionuniparental disomyimprinting mutation

Outcome Measures

Primary Outcomes (4)

M-PCR(methylation-specific PCR)
Abnormal pattern of M-PCR can identify PWS or AS
up to 4 weeks after diagnosis
FISH(fluorescent in-situ hybridization)
A "FISH" test will identify PWS/AS due to a deletion, but it will not identify those by UPD or an imprinting error.
up to 4 weeks after diagnosis
STR(short tandem repeat) for UPD (uniparental disomy)
A '"STR" test can identify PWS/AS duo to paternal or maternal UPD.
up to 4 weeks after diagnosis
MS-MLPA (methylation-specific multiplex-ligation-dependent probe amplification)
Use of the quantitative MS-MLPA method provides detailed information about deletions, rare duplications, and possibly UPD
up to 4 weeks after diagnosis

Eligibility Criteria

AgeUp to 45 Years

Sexall

Healthy VolunteersNo

Age GroupsChild (0-17), Adult (18-64)

Sampling MethodProbability Sample

Study Population

During January 1, 2001, and December 31, 2014, cases were referred for molecular diagnosis such as individual with clinical features related to Prader-Willi syndrome or Angelman syndrome ; fetus with deletion or duplication of chromosome 15q11.2-q13 visible by the microscope; fetus whose mother or father has chromosomal abnormality involving 15q11.2-q13 and fetus with mosaic trisomy 15

You may qualify if:

Sponsors & Collaborators

National Cheng-Kung University Hospital
Otherlead

Study Sites (1)

National Cheng-Kung University Hospital

Tainan, 70428, Taiwan

Biospecimen

Retention: NONE RETAINED

fetal DNA extracted from amniocyte, cord blood, or chorionic villus

MeSH Terms

Conditions

Mental DisordersFetal DiseasesUniparental Disomy

Condition Hierarchy (Ancestors)

Pregnancy ComplicationsFemale Urogenital Diseases and Pregnancy ComplicationsUrogenital DiseasesCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesNondisjunction, GeneticChromosome AberrationsPathologic ProcessesPathological Conditions, Signs and Symptoms

Study Officials

Pao-Lin Kuo, MD
Department of Obstetrics and Gynecology, National Chen-Kung University Hospital
STUDY DIRECTOR

Enrollment

60 participants (actual enrollment reported by the registry).

Study Design

Study Type: observational
Observational Model: COHORT
Time Perspective: RETROSPECTIVE
Sponsor Type: OTHER
Responsible Party: SPONSOR

Study Record Dates

First Submitted

October 28, 2019

First Posted

November 7, 2019

Study Start

August 2013

Actual (reported)

Diagnosis of Prader-Willi Syndrome and Angelman Syndrome

Brief Summary

Registry Overview

Trial Relationships

Study Timeline

Study Start

Primary Completion

Study Completion

First Submitted

First Posted

Conditions

Keywords

Outcome Measures

Primary Outcomes (4)

Eligibility Criteria

You may qualify if:

Sponsors & Collaborators

Study Sites (1)

Biospecimen

MeSH Terms

Conditions

Condition Hierarchy (Ancestors)

Study Officials

Enrollment

Study Design

Study Record Dates

Source record

Locations

Brief Summary

Registry Overview

Trial Relationships

Related Scientific Literature

Study Timeline

Study Start

Primary Completion

Study Completion

First Submitted

First Posted

Conditions

Keywords

Outcome Measures

Primary Outcomes (4)

Eligibility Criteria

You may qualify if:

Sponsors & Collaborators

Study Sites (1)

Biospecimen

MeSH Terms

Conditions

Condition Hierarchy (Ancestors)

Study Officials

Enrollment

Study Design

Study Record Dates

Source record

Locations