Copy Number Variation in Prenatal Diagnosis

Status

UNKNOWN

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT04561440

Enrollment

16000

Registered

2020-09-23

Start date

2016-12-01

Completion date

2020-12-30

Last updated

2020-09-23

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Copy Number Variation, Genome

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.

Interventions

DIAGNOSTIC_TESTmolecular karyotyping

performed by NGS or CMA chip

Study design

Observational model

COHORT

Time perspective

RETROSPECTIVE

Eligibility

Sex/Gender

ALL

Healthy volunteers

Inclusion criteria

* total population need invasival prenatal diagnosis

Exclusion criteria

* multipara

Design outcomes

Primary

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

Secondary

Measure	Time frame	Description
comparison of CNVs distributions in demographic dates.	2016-2020	demographic dates including indication of prenatal diagnosis

Countries

China

Outcome results

None listed

Source: ClinicalTrials.gov · Data processed: Feb 4, 2026