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.
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.