Copy Number Variation in Prenatal Diagnosis

YiYang Zhu16,000 enrolled

Overview

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 Type

OBSERVATIONAL

Enrollment

16,000

Conditions

Copy Number Variation Genome

Interventions

molecular karyotypingDIAGNOSTIC_TEST

performed by NGS or CMA chip

Eligibility

Sex: ALL

Medical Language ↔ Plain English

Inclusion Criteria: * total population need invasival prenatal diagnosis Exclusion Criteria: * multipara

Locations (1)

Taizhou Hospital of Zhejiang province

Taizhou, Zhejiang, China

RECRUITING

Outcomes

Primary Outcomes

comparison of CNVs distributions in subgroups

subgroups including CNV-seq (by NGS) and CMA chip

Time frame: 2016-2020

Secondary Outcomes

comparison of CNVs distributions in demographic dates.

demographic dates including indication of prenatal diagnosis

Time frame: 2016-2020

Data from ClinicalTrials.gov

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