Copy Number Variation in Prenatal Diagnosis

• Conditions: Copy Number Variation; Genome
• Interventions: Diagnostic Test: molecular karyotyping

• Registration Number: NCT04561440
• Lead Sponsor: YiYang Zhu

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.

Detailed Description

Not available

Study Timeline

• Study Start: 2016-12-01
• Status Verified: 2020-09
• Study First Submitted: 2020-09-17
• Study First Submitted QC: 2020-09-17
• Last Update Submitted: 2020-09-17
• Study First Posted: 2020-09-23
• Last Update Posted: 2020-09-23
• Primary Completion: 2020-12-30
• Study Completion: 2020-12-30

Recruitment & Eligibility

• Status: UNKNOWN
• Sex: All
• Target Recruitment: 16000

Inclusion Criteria

• total population need invasival prenatal diagnosis

Exclusion Criteria

• multipara

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
cytogenic karyotyping	molecular karyotyping	-
molecular karyotyping	molecular karyotyping	-

Primary Outcome Measures

Name	Time	Method
comparison of CNVs distributions in subgroups	2016-2020	subgroups including CNV-seq (by NGS) and CMA chip

Secondary Outcome Measures

Name	Time	Method
comparison of CNVs distributions in demographic dates.	2016-2020	demographic dates including indication of prenatal diagnosis

Trial Locations

Locations (1)

Taizhou Hospital of Zhejiang province; 🇨🇳 Taizhou, Zhejiang, China