在单一中心对5210例胎儿，通过颈部透明带厚度和孕妇年龄评估妊娠10 - 14周时染色体异常的风险。

Assessment of risk for chromosomal abnormalities at 10-14 weeks of gestation by nuchal translucency and maternal age in 5,210 fetuses at a single centre.

作者信息

Zoppi M A, Ibba R M, Putzolu M, Floris M, Monni G

机构信息

Department of Obstetrics and Gynecology, Prenatal and Preimplantation Genetic Diagnosis and Fetal Therapy, Ospedale Regionale per le Microcitemie, Cagliari, Italy.

出版信息

Fetal Diagn Ther. 2000 May-Jun;15(3):170-3. doi: 10.1159/000020999.

DOI:10.1159/000020999

PMID:10782003

Abstract

OBJECTIVE

To evaluate the screening of chromosomal abnormalities by nuchal translucency (NT) measurement.

METHODS

Assessment of risk for chromosomal abnormalities by NT and maternal age in 5,210 single fetuses with karyotype and outcome already known.

RESULTS

Risk was > or =1 in 300 in 640 (12.2%) of all fetuses, in 575 (11.1%) of the normal fetuses, in 38 (80.8%) of the fetuses affected by trisomy 21, and in 65 (89%) of the fetuses affected by chromosomal abnormalities. Risk was > or =1 in 200 in 477 (9.1%) of all fetuses, in 418 (8.1%) of the normal fetuses, in 35 (74.4%) of the fetuses affected by trisomy 21, and in 59 (80.8%) of the fetuses affected by chromosomal abnormalities. Risk was > or =1 in 100 in 270 (5.1%) of all fetuses, in 216 (4.2%) of the normal fetuses, in 33 (70.2%) of the fetuses affected by trisomy 21, and in 54 (73.9%) of the fetuses affected by chromosomal abnormalities.

CONCLUSIONS

Risk generated by NT and maternal age is effective in screening for chromosomal abnormalities.

摘要

目的

评估通过测量颈部透明带（NT）筛查染色体异常情况。

方法

对5210例单胎胎儿进行NT及孕妇年龄检查，这些胎儿的核型及结局已知，据此评估染色体异常风险。

结果

在所有胎儿中，640例（12.2%）风险≥1/300，正常胎儿中有575例（11.1%），21三体综合征胎儿中有38例（80.8%），染色体异常胎儿中有65例（89%）；在所有胎儿中，477例（9.1%）风险≥1/200，正常胎儿中有418例（8.1%），21三体综合征胎儿中有35例（74.4%），染色体异常胎儿中有59例（80.8%）；在所有胎儿中，270例（5.1%）风险≥1/100，正常胎儿中有216例（4.2%），21三体综合征胎儿中有33例（70.2%），染色体异常胎儿中有54例（73.9%）。