Trisomy 21, Trisomy 18, Turner syndrome, as well as common genetic syndromes such as fetal 22q11.2 deletion syndrome and Noonan syndrome
Conditions
Interventions
Observation Group of Common Genetic Syndrome Diseases:None
Sponsors
Guangzhou Medical University Affiliated Women and Children's Medical Center
Eligibility
Sex/Gender
Female
Inclusion criteria
Inclusion criteria: 1.Both couples are of Chinese descent; 2.Singleton pregnancy; 3.Ultrasound examination at our hospital shows gestational age between 11 and 27 weeks and 6 days; 4.Trisomy 21, Trisomy 18, Turner syndrome, as well as common genetic syndromes such as fetal 22q11.2 deletion syndrome and Noonan syndrome; 5.Chimerism proportion greater than 20%; 6.Retain qualified two-dimensional and three-dimensional ultrasound images of the face;
Exclusion criteria
Exclusion criteria: 1.After participating in the study, if a participant withdraws, that sample will be excluded.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Ultrasound facial indicators in the mid-sagittal plane : Frontonasal Angle(FNA);Ultrasound facial indicators in the mid-sagittal plane :Facial Profile Line(FPL);Ultrasound facial indicators in the mid-sagittal plane :Fronto-Naso-Mandibular Angle(FNM);Ultrasound facial indicators in the mid-sagittal plane:: Mandibular-Maxillary Angle((MMA);Ultrasound facial indicators in the mid-sagittal plane 5: Fronto-Maxillary Facies Angle(FMFA);Ultrasound facial indicators in the mid-sagittal plane : Facial Maxillary Angle(FMA);Ultrasound facial indicators in the mid-sagittal plane :Maxilla-Nasion-Mandibular Angle(MNM));Ultrasound facial indicators in the mid-sagittal plane : IFA; | — |
Secondary
| Measure | Time frame |
|---|---|
| Positive Predictibe Value(PPV);Negative Predictive Value (NPV);Specificity;Sensitivity; | — |
Countries
China
Contacts
Public ContactHan Jin
Guangzhou Medical University Affiliated Women and Children's Medical Center
Outcome results
None listed