Department of Clinical Epidemiology, Leiden University Medical Center, Leiden, The Netherlands.
Haemophilia. 2012 Jul;18(4):584-92. doi: 10.1111/j.1365-2516.2011.02742.x. Epub 2012 Jan 18.
Carriers of haemophilia face difficult choices regarding prenatal diagnosis, but little is known about the determinants that influence their decisions. The aim of this study was to assess the incidence of prenatal diagnosis and potential determinants affecting the choice for prenatal diagnosis. A nationwide survey was performed among all women who underwent carriership testing for haemophilia in the Netherlands between 1992 and 2004. Prenatal diagnosis was assessed in 207 carriers of haemophilia A or B who had been pregnant. Prenatal diagnosis was categorized into early first trimester (Y-PCR testing or chorionic villus sampling) often intended to prevent the birth of a child with haemophilia, and into late prenatal diagnosis (amniocentesis or ultrasound assessment) aimed at obstetrical management. Of 207 carriers 112 (54%) underwent prenatal diagnosis. Forty-eight women underwent early prenatal diagnosis and 64 women underwent late prenatal diagnosis. In 26 pregnancies early prenatal diagnosis was positive for haemophilia, and in 18 of these pregnancies termination was opted for. The choice for early prenatal diagnosis was associated with a liberal view towards termination of pregnancy (relative risk (RR) 12.5; 95% confidence interval (CI) 3.1-51.2), severe haemophilia in the family (RR 20.2; CI 2.7-153.6), absence of a religion (RR 1.9; CI 1.1-3.1) and older age (RR 2.0; CI 1.0-3.9). The choice for late prenatal diagnosis was associated with birth year after 1970 (RR 2.3; CI 1.5-3.5) and a previous child with haemophilia (RR 2.2; CI 1.4-3.4). More than half of all Dutch haemophilia carriers underwent prenatal diagnosis. Several determinants were strongly associated with prenatal diagnosis.
携带者在进行产前诊断时面临着艰难的选择，但对于影响他们决策的决定因素知之甚少。本研究旨在评估产前诊断的发生率以及影响产前诊断选择的潜在决定因素。对 1992 年至 2004 年间在荷兰接受血友病携带者检测的所有女性进行了一项全国性调查。对 207 名血友病 A 或 B 的携带者进行了评估，这些携带者曾怀孕。将产前诊断分为早期第一孕期（Y-PCR 检测或绒毛膜活检），通常旨在防止血友病患儿的出生，以及晚期产前诊断（羊膜穿刺术或超声评估），旨在进行产科管理。在 207 名携带者中，有 112 名（54%）接受了产前诊断。48 名妇女接受了早期产前诊断，64 名妇女接受了晚期产前诊断。在 26 例妊娠中，早期产前诊断血友病阳性，其中 18 例选择终止妊娠。选择早期产前诊断与对终止妊娠的宽松态度有关（相对风险（RR）12.5；95%置信区间（CI）3.1-51.2）、家族中严重血友病（RR 20.2；CI 2.7-153.6）、无宗教信仰（RR 1.9；CI 1.1-3.1）和年龄较大（RR 2.0；CI 1.0-3.9）。选择晚期产前诊断与 1970 年后的出生年份（RR 2.3；CI 1.5-3.5）和之前有血友病患儿（RR 2.2；CI 1.4-3.4）有关。超过一半的荷兰血友病携带者接受了产前诊断。一些决定因素与产前诊断密切相关。
