基于网络的游离DNA产前筛查信息比较：对性发育护理差异的影响

Comparison of web-based information about cell-free DNA prenatal screening: implications for differences of sex development care.

作者信息

Kim Soojin, Finney Esther L, Naha Ushasi, Rosoklija Ilina, Honegger Kyle S, Goetsch Weisman Allison, Holl Jane L, Finlayson Courtney, Chen Diane, Johnson Emilie K

机构信息

Department of Urologic Sciences, University of British Columbia, Vancouver, BC, Canada.

Department of Surgery, Division of Urology, British Columbia Children's Hospital, Vancouver, BC, Canada.

出版信息

Front Urol. 2023 Oct 31;3:1144618. doi: 10.3389/fruro.2023.1144618. eCollection 2023.

DOI:10.3389/fruro.2023.1144618

PMID:40778035

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12327298/

Abstract

OBJECTIVE

Cell-free DNA (cfDNA) prenatal screening is a commercially available noninvasive test that detects fetal genetic material in maternal blood. While expectant parents often use it for "gender" determination, there is little information about unintended consequences of testing, such as revelation of a difference of sex development (DSD). The study aimed to characterize currently available website information about cfDNA and compare the cfDNA-related content.

METHODS

A systematic search for websites with information about cfDNA was conducted using search terms generated by a natural language processing analysis of the results of an Amazon Mechanical Turk (MTurk) survey of 1,000 parents and then performing a "Google" search, using the terms. Commercial cfDNA testing companies (CC) websites were also identified by consulting a genetic counselor (AGW). Data were collected on about each website's characteristics and information about cfDNA. Information about cfDNA was compared between websites. Data were analyzed using descriptive statistics, Fisher's exact test or Kruskal-Wallis test were applied, as appropriate.

RESULTS

Sixty websites were identified. After eliminating duplicates, 11 commercial company (CC) websites were identified. Nineteen other websites were reviewed of which six overlapped with five CC websites. Most of the websites had non-professional authors (73.7%), such as laypersons and CC representatives. CC websites were significantly more likely than search term-identified websites to state that cfDNA can screen for trisomy 21 (=0.002), trisomy 18 (<0.0001), trisomy 13 (<0.001), sex chromosome aneuploidies (<0.001), and microdeletions (0.002).

CONCLUSIONS

This study shows that most website currently available information for expectant parents about cfDNA prenatal screening is produced by non-professional organizations. There are significant differences between the information provided by CC and Google search websites, specifically about the number of conditions screened for by cfDNA. Improving availability and quality of information about cfDNA could improve counseling future expectant parents. Inclusion of information about the potential for detection of a DSD is needed.

摘要

目的

游离DNA（cfDNA）产前筛查是一种可商业化获得的非侵入性检测，用于检测母血中的胎儿遗传物质。虽然准父母经常将其用于“性别”鉴定，但关于检测的意外后果，如性发育差异（DSD）的揭示，相关信息却很少。本研究旨在描述当前关于cfDNA的网站信息特征，并比较与cfDNA相关的内容。

方法

使用通过对1000名父母进行的亚马逊土耳其机器人（MTurk）调查结果进行自然语言处理分析生成的搜索词，对包含cfDNA信息的网站进行系统搜索，然后使用这些词进行“谷歌”搜索。还通过咨询遗传咨询师（AGW）确定了商业cfDNA检测公司（CC）的网站。收集了每个网站的特征以及关于cfDNA的信息。对各网站之间关于cfDNA的信息进行比较。使用描述性统计进行数据分析，酌情应用费舍尔精确检验或克鲁斯卡尔 - 沃利斯检验。

结果

共识别出60个网站。去除重复后，确定了11个商业公司（CC）网站。还审查了另外19个网站，其中6个与5个CC网站重叠。大多数网站的作者为非专业人士（73.7%），如外行人员和CC代表。CC网站比通过搜索词识别的网站更有可能表明cfDNA可用于筛查21三体（=0.002）、18三体（<0.0001）、13三体（<0.001）、性染色体非整倍体（<0.001）和微缺失（0.002）。