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| Name | Class |
|---|---|
| Eli Lilly and Company | INDUSTRY |
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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.
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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| 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. |
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| 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 |
| 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 |
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Inclusion Criteria:
Exclusion Criteria:
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Girls who are diagnosed with Turner syndrome prenatally.
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Patricia Fechner, MD | Contact | 206-987-5037 | patricia.fechner@seattlechildrens.org |
| Name | Affiliation | Role |
|---|---|---|
| Patricia Fechner, MD | Seattle Children's Hospital | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Seattle Children's Hospital | Recruiting | Seattle | Washington | 98105 | United States |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 15342833 | Background | 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. |
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| ID | Term |
|---|---|
| D014424 | Turner Syndrome |
| D004194 | Disease |
| ID | Term |
|---|---|
| D006059 | Gonadal Dysgenesis |
| D012734 | Disorders of Sex Development |
| D014564 | Urogenital Abnormalities |
| D052776 | Female Urogenital Diseases |
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| D005261 | Female Urogenital Diseases and Pregnancy Complications |
| D000091642 | Urogenital Diseases |
| D058533 | Sex Chromosome Disorders of Sex Development |
| D052801 | Male Urogenital Diseases |
| D006330 | Heart Defects, Congenital |
| D018376 | Cardiovascular Abnormalities |
| D002318 | Cardiovascular Diseases |
| D006331 | Heart Diseases |
| D000013 | Congenital Abnormalities |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D025064 | Sex Chromosome Disorders |
| D025063 | Chromosome Disorders |
| D030342 | Genetic Diseases, Inborn |
| D006058 | Gonadal Disorders |
| D004700 | Endocrine System Diseases |
| D010335 | Pathologic Processes |
| D013568 | Pathological Conditions, Signs and Symptoms |