产前诊断检测与联合早孕期筛查后的非典型染色体异常：对非侵入性产前检测的条件模型的影响。

Prenatal diagnostic testing and atypical chromosome abnormalities following combined first-trimester screening: implications for contingent models of non-invasive prenatal testing.

机构信息

Public Health Genetics, Murdoch Children's Research Institute, Melbourne, Australia.

Mercy Perinatal, Mercy Hospital for Women, Melbourne, Australia.

出版信息

Ultrasound Obstet Gynecol. 2018 Apr;51(4):487-492. doi: 10.1002/uog.18979.

DOI:10.1002/uog.18979

PMID:29226487

Abstract

OBJECTIVES

To investigate by means of a population-based analysis of a cohort of women who underwent combined first-trimester screening (CFTS), changes in uptake of invasive prenatal diagnosis according to risk of trisomy 21 (T21) on CFTS, and prevalence and methods for ascertainment of atypical chromosome abnormalities.

METHODS

This was a retrospective cohort study using state-wide prenatal datasets from Victoria, Australia. A three-step approach was taken to analyze the data: (1) linkage of records between serum screening and diagnostic results; (2) comparison of rates of diagnostic testing according to CFTS T21 risk result category in a 2014-2015 cohort with those of a historical 2002-2004 cohort; (3) detailed analysis of atypical abnormalities in the 2014-2015 group according to CFTS T21 risk result, individual serum analyte level and other indications for invasive diagnostic testing.

RESULTS

In 2014-2015, there were 100 418 CFTS results issued for 146 776 births (68.4%). The overall prevalence of atypical chromosome abnormalities in the entire CFTS cohort was 0.10% and was highest in those with CFTS T21 risk > 1 in 10 (4.6%), or serum analyte levels < 0.2 multiples of the median (MoM) (6.9% for pregnancy-associated plasma protein-A (PAPP-A) and 5.2% for beta-human chorionic gonadotropin (β-hCG)). Almost half (49.2%) of women with PAPP-A < 0.2 MoM had a risk for T21 on CFTS of less than 1 in 100. The majority (55%) of atypical abnormalities occurred in women with CFTS T21 risk below 1 in 300, and were most commonly detected on ultrasound examination (47.1%).

CONCLUSION

Concerns regarding missed diagnoses of atypical chromosome abnormalities when non-invasive prenatal testing is offered after a result of high risk on CFTS can be mitigated if invasive diagnostic testing is offered to those women with CFTS T21 risk of > 1 in 100, serum PAPP-A or β-hCG < 0.2 MoM, or ultrasound-detected abnormality. This has implications for contingent models of screening. Copyright © 2017 ISUOG. Published by John Wiley & Sons Ltd.

摘要

目的

通过对接受联合早孕期筛查（CFTS）的女性队列进行基于人群的分析，研究根据 CFTS 中 21 三体（T21）风险改变侵入性产前诊断的接受率，并调查非典型染色体异常的发生率和确定方法。

方法

这是一项使用澳大利亚维多利亚州的全州产前数据集进行的回顾性队列研究。采用三步法分析数据：（1）将血清筛查和诊断结果的记录进行链接；（2）比较 2014-2015 年队列中 CFTS T21 风险结果分类的诊断检测率与 2002-2004 年历史队列的检测率；（3）根据 CFTS T21 风险结果、个体血清分析物水平和其他侵入性诊断检测指征，对 2014-2015 年组中非典型异常进行详细分析。

结果

2014-2015 年，为 146776 例分娩共出具了 100418 份 CFTS 结果（68.4%）。整个 CFTS 队列中非典型染色体异常的总体发生率为 0.10%，在 CFTS T21 风险>1/10（4.6%）或血清分析物水平<0.2 中位数倍数（MoM）（妊娠相关血浆蛋白-A（PAPP-A）<0.2 MoM 的发生率为 6.9%，β-人绒毛膜促性腺激素（β-hCG）<0.2 MoM 的发生率为 5.2%）的女性中最高。近一半（49.2%）的 PAPP-A<0.2 MoM 的女性 CFTS T21 风险小于 1/100。大多数（55%）非典型异常发生在 CFTS T21 风险<1/300 的女性中，最常见于超声检查（47.1%）中发现。