Multiple chromosomal aneuploidies, microdeletion and microduplication syndromes, and monogenic disorders
Conditions
Interventions
Case series:None
Sponsors
The Obstetrics and Gynecology Hospital of Fudan University
Eligibility
Sex/Gender
Female
Age
20 Years to No maximum
Inclusion criteria
Inclusion criteria: 1.Adult pregnant woman (aged >=20 years); 2.Gestational age >=12+0 weeks; 3.Singleton pregnancy; 4.Agree to participate in the clinical trial and accept at least one molecular diagnosis (such as prenatal diagnosis, flow product or cord blood diagnosis); 5.High-risk pregnancies requiring prenatal diagnosis include the following: (1)Prenatal ultrasound revealed structural abnormalities; (2)High risk by routine NIPS; (3)Serological prenatal screening suggests high risk; (4)The clinician considers the application of other suspected genetic diseases (e.g., unexplained recurrent abortion, etc.).
Exclusion criteria
Exclusion criteria: 1.Chromosomal abnormality in either of the couple; 2.Received allogeneic blood transfusion, transplantation and allogeneic cell therapy within one year; 3.There is a family history of genetic diseases or a high risk of genetic diseases in the fetus; 4.Complicated with malignant tumor during pregnancy; 5.Other conditions that the clinician considers to significantly affect the accuracy of the results.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| gene sequencing;karyotype analysis;prenatal ultrasonography;chromosome chip;chromosome copy number variation testing; | — |
Countries
China
Contacts
Public ContactHuang Hefeng
The Obstetrics and Gynecology Hospital of Fudan University
Outcome results
None listed