Copy Number Variation in Prenatal Diagnosis
Trial Snapshot
- Phase
- Not Applicable
- Sponsor
- Enrollment
- 16,000
- Locations
- 1
- Primary Endpoint
- comparison of CNVs distributions in subgroups
Study Overview
Brief Summary
An observed study is aim to map the CNVs distribution in human genome of Chinese prenatal population.
Setting: Prenatal diagnosis center of Taizhou City, Zhejiang Province Patient: total cases of pregnant women needed prenatal genetic diagnosing Methods: karyotype was performed with combined of molecular and cytogenic protocol. Subgroup: molecular karyotyping performed by genomic Chip (CMA) or NGS, the latter including cnv-seq and NIPT.
Main outcome: comparison of CNVs distributions in subgroups. Second outcome: comparison of CNVs distributions in demographic dates.
Study Design
- Study Type
- Observational
- Observational Model
- Cohort
- Time Perspective
- Retrospective
Eligibility Criteria
- Sex
- All
- Accepts Healthy Volunteers
- No
Inclusion Criteria
- •total population need invasival prenatal diagnosis
Exclusion Criteria
- •multipara
Outcomes
Primary Outcomes
comparison of CNVs distributions in subgroups
Time Frame: 2016-2020
subgroups including CNV-seq (by NGS) and CMA chip
Secondary Outcomes
- comparison of CNVs distributions in demographic dates.(2016-2020)
Investigators
YiYang Zhu
vice dean of prenatal dignosis
Taizhou Hospital
