Turner Syndrome Prenatal Diagnosis Study

This study is currently recruiting participants. (see Contacts and Locations)
Verified August 2012 by Seattle Children's Hospital
Eli Lilly and Company
Information provided by (Responsible Party):
Patricia Fechner, Seattle Children's Hospital
ClinicalTrials.gov Identifier:
First received: November 3, 2011
Last updated: August 14, 2012
Last verified: August 2012
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.

Turner Syndrome

Study Type: Observational
Study Design: Observational Model: Case Control
Time Perspective: Prospective
Official Title: National Collaborative Study of Girls Prenatally Diagnosed With Turner Syndrome Karyotypes

Resource links provided by NLM:

Further study details as provided by Seattle Children's Hospital:

Primary Outcome Measures:
  • Number of signs of Turner syndrome [ Time Frame: three to six years ] [ Designated as safety issue: No ]
    Girls diagnosed with Turner syndrome by fetal ascertainment will have more signs of Turner syndrome than girls diagnosed by maternal ascertainment

Secondary Outcome Measures:
  • Growth [ Time Frame: three to six years ] [ Designated as safety issue: No ]
    Do girls with Turner syndrome ascertained by fetal ascertainment grow differently than girls ascertained by maternal ascertainment.

Estimated Enrollment: 60
Study Start Date: January 2006
Estimated Study Completion Date: January 2017
Estimated Primary Completion Date: January 2017 (Final data collection date for primary outcome measure)
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.

Detailed Description:

This is an observational study which will look at girls who are diagnosed with Turner syndrome before they are born. Girls will be divided into two groups: 1) those diagnosed because of features seen on ultrasound which raised the question of Turner syndrome and 2) those diagnosed incidentally when their mother had an amniocentesis for another reason such as advanced maternal age.

No clinical procedures nor interventions will be done as part of this data collection study which will occur for the first 3 to 6 years of the girl's life. The investigators will be looking to see if girls who are diagnosed incidentally have less features of Turner syndrome than those girls who are diagnosed because of fetal ultrasound.


Ages Eligible for Study:   up to 3 Months
Genders Eligible for Study:   Female
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Girls who are diagnosed with Turner syndrome prenatally.

Inclusion Criteria:

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

Exclusion Criteria:

  • Turner syndrome diagnosed postnatally
  • Older than 4 months of age at time of enrollment
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT01668251

Contact: Patricia Fechner, MD 206-987-5037 patricia.fechner@seattlechildrens.org

United States, Washington
Seattle Children's Hospital Recruiting
Seattle, Washington, United States, 98105
Contact: Patricia Fechner, M.D.    800-317-7589    patricia.fechner@seattlechildrens.org   
Contact: Sue Kearns, RN    1-206-987-1758    sue.kearns@seattlechildrens.org   
Principal Investigator: Patricia Fechner, MD         
Sponsors and Collaborators
Seattle Children's Hospital
Eli Lilly and Company
Principal Investigator: Patricia Fechner, MD Seattle Children's
  More Information

Responsible Party: Patricia Fechner, Associate Professor, Pediatrics, Seattle Children's Hospital
ClinicalTrials.gov Identifier: NCT01668251     History of Changes
Other Study ID Numbers: TS Prenatal Study 
Study First Received: November 3, 2011
Last Updated: August 14, 2012
Health Authority: United States: Institutional Review Board

Keywords provided by Seattle Children's Hospital:
Turner syndrome
Diagnosis, prenatal

Additional relevant MeSH terms:
Primary Ovarian Insufficiency
Gonadal Dysgenesis
Turner Syndrome
Adnexal Diseases
Cardiovascular Abnormalities
Cardiovascular Diseases
Chromosome Disorders
Congenital Abnormalities
Disorders of Sex Development
Endocrine System Diseases
Genetic Diseases, Inborn
Genital Diseases, Female
Gonadal Disorders
Heart Defects, Congenital
Heart Diseases
Ovarian Diseases
Pathologic Processes
Sex Chromosome Disorders
Sex Chromosome Disorders of Sex Development
Urogenital Abnormalities

ClinicalTrials.gov processed this record on May 26, 2016