Turner Syndrome Prenatal Diagnosis Study

Study Description

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Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

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 Design

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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

Groups and Cohorts

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Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

Group/Cohort
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.

Outcome Measures

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Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

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.

Eligibility Criteria

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Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

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.

Criteria

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

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Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

Contacts

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

Locations

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

Investigators

Principal Investigator:	Patricia Fechner, MD	Seattle Children's

More Information

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Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

Publications:

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.

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
First Posted:	August 20, 2012
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; Syndrome; Disease; 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