Comparison of Karyotyping, CMA and NIPT for Prenatal Diagnosing Chromosomal Anomalies

YiYang Zhu

Status: Unknown

Conditions: Prenatal Diagnosis

Study type: Observational

Funder types: Other

Identifiers

NCT03201666

TZ201607

Details and patient eligibility

About

This diagnostic test is aimed to compare the Karyotyping, CMA and NIPT for prenatal diagnosing chromosomal anomalies. Pregnant women who needed prenatal genetic diagnosis meted the study criterion; fetal amniotic fluid was regular examined by Karyotyping and CMA, and maternal peripheral blood was collected for NIPT detecting. And the CMA result as a golden standard, the main outcome is compared the diagnostic efficacy of NIPT for diagnosing chromosomal anomalies.

Full description

Aim: to compare the Karyotyping, CMA and NIPT for prenatal diagnosing chromosomal anomalies.

Design: diagnostic test Set: Prenatal diagnosis center of Taizhou City Study population: The Pregnant women who needed amniocenteses for prenatal genetic diagnosis were recruited.

Methods: amniotic fluid was regular examined by Karyotyping and CMA, and maternal peripheral blood was used for collected for NIPT detecting.

Statistic: CMA result as a golden standard, the main outcome is compared the diagnostic efficacy of NIPT for diagnosing chromosomal anomalies.

Enrollment: 1,000 estimated patients

Sex: All

Volunteers: No Healthy Volunteers

Inclusion criteria

1. pregnant women who needed amniocenteses were recruited during the study period, include high risk for serum screening, aged over 35 years and ultrasound abnormal.
2. only singleton were included

Exclusion criteria

1. women who met the contraindication for invasive procedure as : threaten abortion, acute infectious disease.
2. Women who unfitted for NIPT analysis include multiple, history of allogeneic blood cell transfusion.