Turner Syndrome Prenatal Diagnosis Study

National Collaborative Study of Girls Prenatally Diagnosed With Turner Syndrome Karyotypes

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.

Study Overview

• Status: Unknown
• Conditions: 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
• Enrollment (Anticipated): 60

Contacts and Locations

• Study Contact: Name: Patricia Fechner, MD; Phone Number: 206-987-5037; Email: patricia.fechner@seattlechildrens.org

Study Locations

• United States
  • Washington
    • Seattle, Washington, United States, 98105
      • Recruiting
      • Seattle Children's Hospital
      • Contact: Patricia Fechner, M.D.; Phone Number: 800-317-7589; Email: patricia.fechner@seattlechildrens.org
      • Contact: Sue Kearns, RN; Phone Number: 1-206-987-1758; Email: sue.kearns@seattlechildrens.org

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: No older than 3 months (CHILD)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: Female

• Sampling Method: Non-Probability Sample

Study Population

Girls who are diagnosed with Turner syndrome prenatally.

Description

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

Study Plan

How is the study designed?

Number of groups / cohorts

2

Cohorts and Interventions

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.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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 Outcome Measures

Outcome Measure	Measure Description	Time Frame
Growth	Do girls with Turner syndrome ascertained by fetal ascertainment grow differently than girls ascertained by maternal ascertainment.	three to six years

Collaborators and Investigators

• Sponsor: Seattle Children's Hospital
• Collaborators: Eli Lilly and Company
• Investigators: Principal Investigator: Patricia Fechner, MD, Seattle Children's

Publications and helpful links

General 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. doi: 10.1542/peds.2003-1122-L.

Study record dates

Study Major Dates

• Study Start: January 1, 2006
• Primary Completion (ANTICIPATED): January 1, 2017
• Study Completion (ANTICIPATED): January 1, 2017

Study Registration Dates

• First Submitted: November 3, 2011
• First Submitted That Met QC Criteria: August 14, 2012
• First Posted (ESTIMATE): August 20, 2012

Study Record Updates

• Last Update Posted (ESTIMATE): August 20, 2012
• Last Update Submitted That Met QC Criteria: August 14, 2012
• Last Verified: August 1, 2012

More Information

Terms related to this study

• Keywords: Turner syndrome; Diagnosis, prenatal
• Additional Relevant MeSH Terms: Pathologic Processes; Heart Diseases; Cardiovascular Diseases; Endocrine System Diseases; Disease; Gonadal Disorders; Disorders of Sex Development; Urogenital Abnormalities; Congenital Abnormalities; Genetic Diseases, Inborn; Heart Defects, Congenital; Cardiovascular Abnormalities; Chromosome Disorders; Sex Chromosome Disorders; Sex Chromosome Disorders of Sex Development; Syndrome; Turner Syndrome; Gonadal Dysgenesis
• Other Study ID Numbers: TS Prenatal Study