Reese Kathryn M, Czerwinski Jennifer, Darilek Sandra, Johnson Anthony, Jones Malorie, Singletary Claire N
Genetic Counseling Program, University of Texas MD Anderson Cancer Center UTHealth Graduate School of Biomedical Sciences, 6431 Fannin Street, MSB 3.142, Houston, TX, 77030, USA.
Department of Obstetrics, Gynecology and Reproductive Sciences, McGovern Medical School at UTHealth, Houston, TX, USA.
J Genet Couns. 2018 Sep;27(5):1238-1247. doi: 10.1007/s10897-018-0246-4. Epub 2018 Mar 10.
The rate of twinning is rising and since the introduction of non-invasive prenatal testing, interest in and uptake of genetic screening and testing in twin pregnancies has not been investigated. This study aimed to explore the attitudes toward and uptake of current prenatal genetic screening and diagnostic testing options for fetal aneuploidy in twin pregnancies. Women being seen for genetic counseling with twin gestations were recruited for participation in a descriptive study with questionnaire (n = 42) and semi-structured phone interview (n = 15). Women were significantly more in favor of screening than diagnostic testing (p = 0.049). Sixty-nine (n = 25) percent elected screening, while one participant had a diagnostic procedure. Women were interested in screening for preparation or reassurance despite having concerns about accuracy and uncertainty. Most women (86%) felt they would make the same decision in a singleton pregnancy. Despite this, 48% cited twin pregnancy as influential to some degree. Information learned from providers, past experiences, and family and friends were also cited as influencing and anchoring factors, suggesting that tailoring prenatal genetic counseling sessions for twins might parallel that of singletons. No significant differences between natural and assisted conception patients were found. Although it did not alter patient decisions, genetic counseling was used as a platform to raise concerns and gather information.
双胎妊娠率正在上升，自无创产前检测引入以来，对双胎妊娠进行基因筛查和检测的兴趣及接受情况尚未得到研究。本研究旨在探讨双胎妊娠中对当前胎儿非整倍体产前基因筛查和诊断检测方法的态度及接受情况。招募前来进行双胎妊娠遗传咨询的女性参与一项描述性研究，采用问卷调查（n = 42）和半结构化电话访谈（n = 15）。女性对筛查的支持程度显著高于诊断检测（p = 0.049）。69%（n = 25）的女性选择了筛查，而只有一名参与者接受了诊断程序。尽管女性对准确性和不确定性存在担忧，但她们仍对为做准备或安心而进行的筛查感兴趣。大多数女性（86%）认为她们在单胎妊娠中会做出相同的决定。尽管如此，48%的女性表示双胎妊娠在某种程度上有影响。从医护人员处获得的信息、既往经历以及家人和朋友也被视为影响因素和锚定因素，这表明为双胎妊娠量身定制产前遗传咨询可能与单胎妊娠类似。自然受孕和辅助受孕患者之间未发现显著差异。尽管遗传咨询并未改变患者的决定，但它被用作一个提出担忧和收集信息的平台。
