Turner Syndrome Prenatal Diagnosis Study
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ClinicalTrials.gov 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
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Condition or disease |
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Turner Syndrome |
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 |

Group/Cohort |
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Fetal ascertainment
Girls who are diagnosed with Turner syndrome because of concerns raised by an abnormal fetal ultrasound.
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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.
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- 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
- Growth [ Time Frame: three to six years ]Do girls with Turner syndrome ascertained by fetal ascertainment grow differently than girls ascertained by maternal ascertainment.

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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 |
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

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 ClinicalTrials.gov identifier (NCT number): 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 |
Principal Investigator: | Patricia Fechner, MD | Seattle Children's |
Publications:
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 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 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 |