Kastrinos Fay, Stoffel Elena M, Balmaña Judith, Syngal Sapna
Division of Gastroenterology, Brigham and Women's Hospital, and Harvard Medical School, Boston, MA 02115, USA.
Am J Gastroenterol. 2007 Jun;102(6):1284-90. doi: 10.1111/j.1572-0241.2007.01168.x. Epub 2007 Mar 13.
Familial adenomatous polyposis (FAP) is an autosomal dominant syndrome with >95% risk of colorectal cancer without prophylactic colectomy. Classic FAP is commonly associated with adenomatous polyposis coli (APC) gene mutations. If a mutation is identified, prenatal testing can reveal whether an embryo or fetus is affected. We conducted a pilot study to assess FAP patients' attitudes toward prenatal testing.
Twenty individuals with FAP completed a 40-item survey on personal and family history related to FAP, demographics, and attitudes toward prenatal tests including amniocentesis, chorionic villous sampling (CVS), and preimplantation genetic diagnosis (PGD).
Thirteen women and seven men participated. Ninety-five percent (19/20) would consider undergoing prenatal testing for FAP: 90% would consider PGD, 75% would consider amniocentesis or CVS. Having an affected child and experiencing a first-degree relative's (FDR) death secondary to FAP were associated with greater willingness to consider prenatal testing. Personal history of cancer or FAP-associated tumors did not influence the decision to consider prenatal testing. One hundred percent said it was ethical to provide prenatal testing for FAP and four of five subjects who self-reported strong religious backgrounds would consider prenatal testing for FAP. Early reassurance of having an unaffected child was the most important advantage of PGD and avoiding pregnancy termination was important for 64% and 71% of women and men, respectively.
Patients with FAP are willing to consider prenatal testing to prevent transmission of disease to their children. Physicians caring for FAP patients should discuss available prenatal diagnostic options with patients of childbearing age.
家族性腺瘤性息肉病（FAP）是一种常染色体显性综合征，若不进行预防性结肠切除术，患结直肠癌的风险超过95%。经典型FAP通常与腺瘤性息肉病基因（APC）突变相关。如果检测到突变，产前检测可揭示胚胎或胎儿是否受累。我们开展了一项试点研究，以评估FAP患者对产前检测的态度。
20名FAP患者完成了一项包含40个条目的调查问卷，内容涉及与FAP相关的个人和家族史、人口统计学信息以及对包括羊膜穿刺术、绒毛取样（CVS）和植入前基因诊断（PGD）在内的产前检测的态度。
13名女性和7名男性参与了研究。95%（19/20）的人会考虑进行FAP的产前检测：90%的人会考虑PGD，75%的人会考虑羊膜穿刺术或CVS。育有患病子女以及经历过因FAP导致的一级亲属（FDR）死亡与更愿意考虑产前检测相关。癌症或FAP相关肿瘤的个人史并未影响考虑进行产前检测的决定。100%的人表示为FAP提供产前检测是符合伦理道德的，五名自我报告有强烈宗教背景的受试者中有四名会考虑进行FAP的产前检测。早期得知孩子未患病是PGD最重要的优势，分别有64%的女性和71%的男性认为避免终止妊娠很重要。
FAP患者愿意考虑进行产前检测，以防止疾病传给子女。照顾FAP患者的医生应与育龄患者讨论现有的产前诊断选项。
