Turner Syndrome Prenatal Diagnosis Study

Seattle Children's Healthcare System

Status: Unknown

Conditions: Turner Syndrome

Study type: Observational

Funder types: Other; Industry

Identifiers

NCT01668251

TS Prenatal Study

Details and patient eligibility

About

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.

Full 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.

Enrollment: 60 estimated patients

Sex: Female

Ages: Under 3 months old

Volunteers: No Healthy Volunteers

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

Trial design

60 participants in 2 patient groups

Fetal ascertainment

Description:

Girls who are diagnosed with Turner syndrome because of concerns raised by an abnormal fetal ultrasound.

Maternal ascertainment

Description:

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.