Copy Number Variation in Prenatal Diagnosis

YiYang Zhu

Status: Unknown

Conditions: Copy Number Variation; Genome

Treatments: Diagnostic Test: molecular karyotyping

Study type: Observational

Funder types: Other

Identifiers

NCT04561440

19EZZDC7

Details and patient eligibility

About

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.

Enrollment: 16,000 estimated patients

Sex: All

Volunteers: No Healthy Volunteers

Inclusion criteria

• total population need invasival prenatal diagnosis

Exclusion criteria

• multipara

Trial design

16,000 participants in 2 patient groups

molecular karyotyping

Treatment:

Diagnostic Test: molecular karyotyping

cytogenic karyotyping

Treatment:

Diagnostic Test: molecular karyotyping