Fetal Heart Program, The Cardiac Center, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Ultrasound Obstet Gynecol. 2010 Oct;36(4):465-70. doi: 10.1002/uog.7674.
To review our experience with the prenatal diagnosis of hypoplastic left heart syndrome (HLHS). Our goal was to establish the benchmark for perinatal and early surgical outcome in the current era, from a center with an aggressive surgical approach and a cohort with a high level of intention-to-treat.
Outcome was assessed in fetuses with HLHS following stratification into high-risk and standard-risk categories. High risk was defined as the presence of any of the following: extracardiac, genetic or chromosomal anomalies; prematurity of < 34 weeks' gestation; additional cardiac findings such as intact or highly restrictive atrial septum, severe degree of tricuspid regurgitation or severe ventricular dysfunction. Standard risk was defined as absence of these risk factors.
Of 240 fetuses evaluated over 5 years, 162 (67.5%) were in the standard-risk group and 78 (32.5%) were in the high-risk group. Of the 240 sets of parents, 38 (15.8%) chose termination or non-intervention at birth at initial prenatal counseling and 185 of the neonates (77.1%) underwent first-stage Norwood surgery with 155 surviving and 30 deaths, giving an overall Norwood operative survival of 83.8%. Breakdown by risk class reveals a significant Norwood operative survival advantage for the standard-risk group (92.8%) over the high-risk group (56.5%) (P < 0.001).
Following prenatal diagnosis of HLHS, families should be strongly encouraged to undertake comprehensive prenatal evaluation in order to obtain an accurate prognosis. One-third have additional risk factors that limit survival outcome, however two-thirds do not and have an excellent chance of early survival.
回顾我们在产前诊断左心发育不良综合征（HLHS）方面的经验。我们的目标是在当前时代，从一个积极采取手术治疗的中心和一个具有高治疗意向的队列中，为围产期和早期手术结果建立基准。
根据高危和标准风险类别对 HLHS 胎儿的结局进行分层评估。高危定义为存在以下任何一种情况：心脏外、遗传或染色体异常；<34 周的早产；存在完整或高度限制性房间隔、严重三尖瓣反流或严重心室功能障碍等其他心脏发现。标准风险定义为不存在这些危险因素。
在 5 年的时间里，对 240 例胎儿进行了评估，其中 162 例（67.5%）处于标准风险组，78 例（32.5%）处于高危组。在 240 对父母中，有 38 对（15.8%）在最初的产前咨询时选择终止妊娠或不进行干预，185 例新生儿（77.1%）接受了第一阶段 Norwood 手术，其中 155 例存活，30 例死亡，总体 Norwood 手术存活率为 83.8%。按风险类别细分，标准风险组的 Norwood 手术存活率（92.8%）明显高于高危组（56.5%）（P<0.001）。
在产前诊断 HLHS 后，应强烈鼓励家庭进行全面的产前评估，以获得准确的预后。三分之一的患儿存在限制生存结局的其他危险因素，但三分之二的患儿没有，他们有很好的早期生存机会。
