Turner Syndrome Prenatal Diagnosis Study

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT01668251
Recruitment Status : Unknown
Verified August 2012 by Patricia Fechner, Seattle Children's Hospital.
Recruitment status was:  Recruiting
First Posted : August 20, 2012
Last Update Posted : August 20, 2012
Eli Lilly and Company
Information provided by (Responsible Party):
Patricia Fechner, Seattle Children's Hospital

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.

Condition or disease
Turner Syndrome

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.

Study Type : Observational
Estimated Enrollment : 60 participants
Observational Model: Case Control
Time Perspective: Prospective
Official Title: National Collaborative Study of Girls Prenatally Diagnosed With Turner Syndrome Karyotypes
Study Start Date : January 2006
Estimated Primary Completion Date : January 2017
Estimated Study Completion Date : January 2017

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.

Primary Outcome Measures :
  1. Number of signs of Turner syndrome [ Time Frame: three to six years ]
    Girls diagnosed with Turner syndrome by fetal ascertainment will have more signs of Turner syndrome than girls diagnosed by maternal ascertainment

Secondary Outcome Measures :
  1. Growth [ Time Frame: three to six years ]
    Do girls with Turner syndrome ascertained by fetal ascertainment grow differently than girls ascertained by maternal ascertainment.

Information from the National Library of Medicine

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Ages Eligible for Study:   up to 3 Months   (Child)
Sexes 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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT01668251

Contact: Patricia Fechner, MD 206-987-5037

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

Responsible Party: Patricia Fechner, Associate Professor, Pediatrics, Seattle Children's Hospital Identifier: NCT01668251     History of Changes
Other Study ID Numbers: TS Prenatal Study
First Posted: August 20, 2012    Key Record Dates
Last Update Posted: August 20, 2012
Last Verified: August 2012

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

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