Single gene disease, chromosomal structure variation
Conditions
Interventions
Gold Standard:Prenatal diagnosis amniocentesis cell karyotype analysis and gene variation sequencing analysis, cord blood karyotype analysis and gene variation sequencing analysis or abortion tissue k
Index test:Genome-wide 
haplotypes 
linkage 
analysis 
based 
family. 
Sponsors
Obstetrics and Gynecology Hospital of Fudan University
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: 1.Karyotype analysis confirmed that one of the couples was chromosomal structural variation, and both of the couple carried a certain pathogenic gene (for dominant diseases, generally one of the couples is the patient and the other is normal; for recessive diseases, generally both couples are a carrier; for X-linked recessive diseases, generally carried by the woman).The peripheral blood of both parents of the couple will be drawn, and the gene mutation and chromosome karyotype analysis will be performed on them, according to the test results of both parents, the source of pathogenic gene and chromosomal structure rearrangement variation of both parents was determined. 2.The embryos were blastocyst embryos obtained by ICSI technique.
Exclusion criteria
Exclusion criteria: 1.History of the following diseases: history of thyroid disease, history of adrenal gland disease, history of sexually transmitted diseases and mental disorders; 2.The following abnormalities of the uterus: uterine malformations (single angle uterus, double uterus), untreated mediastinal uterus, uterine adenomyoma, submucosal uterine fibroids, endometrial polyps; 3.Contraindications to assisted reproductive technology or diseases that have a clear impact on pregnancy: including poorly controlled type I, type 2 diabetes; Undiagnosed liver or kidney disease or hepatorenal insufficiency; Severe anemia; History of deep vein thrombosis, pulmonary embolism, cardiovascular and cerebrovascular diseases; Uncontrolled high blood pressure, heart disease with clear symptoms; Suspected or definite tumor, undiagnosed vaginal bleeding.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Sequencing analysis of chromosome karyotype and gene variation in fetal amniotic fluid cells; | — |
Countries
China
Contacts
Public ContactZhang Shuo
Obstetrics and Gynecology Hospital of Fudan University
Outcome results
None listed