Turner Syndrome Prenatal Diagnosis Study

NCT01668251 | Unknown

• 1 other identifier: TS Prenatal Study
• Study Type: observational
• Target: 60
• Locations: 1 country
• Sites: 1

Brief Summary

The goal of this study is to compare the features of Turner syndrome in girls who are diagnosed before birth because of fetal concerns versus those who are diagnosed when their mother has an amniocentesis for another reason.

Conditions

Turner Syndrome

Keywords

Turner syndrome; Diagnosis, prenatal

Outcome Measures

Primary Outcomes (1)

• Number of signs of Turner syndrome

  Girls diagnosed with Turner syndrome by fetal ascertainment will have more signs of Turner syndrome than girls diagnosed by maternal ascertainment

  three to six years

Secondary Outcomes (1)

• Growth

  three to six years

Study Arms (2)

Fetal ascertainment

Girls who are diagnosed with Turner syndrome because of concerns raised by an abnormal fetal ultrasound.

Maternal ascertainment

Girls who are diagnosed with Turner syndrome because their mothers had an amniocentesis for a reason other than an abnormal fetal ultrasound concerning for Turner syndrome. For example an amniocentesis was done because of advanced maternal age or because of an abnormal triple screen or because another condition was being screened for such as trisomy 21.

Eligibility Criteria

• Age: Up to 3 Months
• Sex: female
• Healthy Volunteers: No
• Age Groups: Child (0-17)
• Sampling Method: Non-Probability Sample

Study Population

Girls who are diagnosed with Turner syndrome prenatally.

You may qualify if:

• Turner syndrome diagnosed prenatally
• Less than 4 months of age at time of enrollment

You may not qualify if:

• Turner syndrome diagnosed postnatally
• Older than 4 months of age at time of enrollment

Sponsors & Collaborators

• Seattle Children's Hospital: lead
• Eli Lilly and Company: collaborator

Study Sites (1)

Seattle Children's Hospital

Seattle, Washington, 98105, United States

RECRUITING

Related Publications (1)

• Gunther DF, Eugster E, Zagar AJ, Bryant CG, Davenport ML, Quigley CA. Ascertainment bias in Turner syndrome: new insights from girls who were diagnosed incidentally in prenatal life. Pediatrics. 2004 Sep;114(3):640-4. doi: 10.1542/peds.2003-1122-L.

  PMID: 15342833 BACKGROUND

MeSH Terms

Conditions

Turner Syndrome; Disease

Condition Hierarchy (Ancestors)

Gonadal Dysgenesis; Disorders of Sex Development; Urogenital Abnormalities; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Sex Chromosome Disorders of Sex Development; Male Urogenital Diseases; Heart Defects, Congenital; Cardiovascular Abnormalities; Cardiovascular Diseases; Heart Diseases; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Sex Chromosome Disorders; Chromosome Disorders; Genetic Diseases, Inborn; Gonadal Disorders; Endocrine System Diseases; Pathologic Processes; Pathological Conditions, Signs and Symptoms

Study Officials

• Patricia Fechner, MD

  Seattle Children's Hospital

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Patricia Fechner, MD

CONTACT

206-987-5037; patricia.fechner@seattlechildrens.org

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Associate Professor, Pediatrics

Study Record Dates

• First Submitted: November 3, 2011
• First Posted: August 20, 2012
• Study Start: January 1, 2006
• Primary Completion: January 1, 2017
• Study Completion: January 1, 2017
• Last Updated: August 20, 2012

Record last verified: 2012-08

Locations

US (1)