Establish a standardized clinical detection process for fetal amniotic fluid RNA-seq
Conditions
Interventions
60 cases of fetal ultrasound abnormalities:None
200 samples of amniotic fluid from normal fetuses:None
Sponsors
Peking Union Medical College Hospital
Eligibility
Sex/Gender
Female
Age
20 Years to 45 Years
Inclusion criteria
Inclusion criteria: 1.A reference database of amniotic fluid cell transcriptome was constructed based on amniotic fluid samples from 200 normal fetuses. Inclusion criteria: Amniocentesis was performed due to advanced maternal age, high - risk results of (Tang screening)/NIPT, or the pregnant woman's own request. Fetal samples with normal ultrasound structure, normal chromosome karyotype/microarray chip results, and no known family history or pregnancy history of genetic diseases were included. 2.Sixty cases of fetuses with abnormal ultrasound findings were prospectively included. Inclusion criteria: The fetuses had abnormal ultrasound findings and were sent for prenatal whole - exome sequencing (WES) testing.
Exclusion criteria
Exclusion criteria: 1. A reference database of the amniotic fluid cell transcriptome was constructed based on amniotic fluid samples from 200 normal fetuses. The exclusion criteria were as follows: (1) abnormal fetal chromosomal karyotype/CMA results; (2) known family history or pregnancy history of genetic diseases in both parents; (3) abnormal fetal ultrasound findings; (4) samples that did not meet the testing requirements. Relevant clinical information (such as gestational age, gender, and indications for amniocentesis) was recorded. During the process of enrolling subjects, it was ensured that the number of samples from different gestational ages was evenly distributed as much as possible. 2. Sixty cases of fetuses with abnormal ultrasound findings were prospectively included. The exclusion criterion was that the samples did not meet the testing requirements. The amniotic fluid RNA-seq testing was strictly carried out in accordance with the standard procedures. The sample characteristics (such as gestational age at amniocentesis, phenotypic characteristics of ultrasound abnormalities, family history or pregnancy history of genetic diseases) were recorded in detail.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| RNA-seq of amniotic fluid; | — |
Countries
China
Contacts
Public Contactlv Yan
Peking Union Medical College Hospital
Outcome results
None listed