abnormal nervous system development
Conditions
Interventions
Sponsors
Eligibility
Inclusion criteria
Inclusion criteria: 1. Fetal central nervous system developmental abnormalities (excluding ultrasound soft markers such as isolated choroid plexus cysts and mild lateral ventricle dlation); 2.Samples with normal quantitative fluorescent polymerase chain reaction (QF-PCR) results for rapid aneuploidy detection of chromosoms 13, 18, 21, and sex chromosomes; 3.Availability of genomic DNA samples from the fetus and parents; 4.Both partners of the couple agreed to undergo trio-WES tey understood the scope and limitations of the test, and signed the informed consent form.
Exclusion criteria
Exclusion criteria: 1. Twin pregnancy; 2.Contamination of amniotic fluid or umbilical cord blood samples, and special circumstances prevent re-collection; 3.amilies with a history of known intrauterine infection, exposure to teratogenic factors during pregnancy, or a family history of known genetic diseases; 4.Either party of the coe refuses to provide peripheral blood samples; 5.Either party of the couple refuses to provide informed consent; 6.The couple voluntarily withdraws fro;
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Genetic causes of fetal nervous system developmental abnormalities; | — |
Countries
China
Contacts
Yuebei People’s Hospital