胎儿左心发育不良综合征超声特点、分子学表现及间歇氧疗的研究

Hypoplastic left heart syndrome(HLHS) was a kind of congenital heart disease with high mortality. Fetal echocardiogram scanning was the major procedure performed prenatally and was benifical to early diagnose and long-term follow-up. As a key factor in the disease progression, cell hypoxia and the imbalance between cell proliferation and apoptosis was widely concerned. Cell appoptosis was noticed in animal models which developed HLHS with preload insufficiency. Recent research demonstrated that chronic intermittent materno-fetal hyperoxygenation might improve the blood flow returned to the left heart, increase the preload and cause the development of the ventricle. The aim of our study was to observe the sonographic and molecular profile of fetal HLHS.We would also try to promote the development of the left ventricle in fetus with ventricular asymmetry and palliate or even reverse the in utero evolution of fetal HLHS, consequently, provide a new method for the in utero noninvasive treatment of fetal congenital heart diseases.

左心发育不良综合征（HLHS）是一种病死率高的先天性心脏病。胎儿超声心动图是主要的产前检查手段，有助于早期诊断疾病及追踪疾病的进展。细胞缺氧以及细胞增殖与凋亡的平衡失调是HLHS发生发展中的关键因素之一。HLHS动物模型中发现前负荷不足会引起细胞凋亡增加，并导致HLHS的发生，而最新研究表明产前间歇氧疗可以改善部分HLHS胎儿的左心回心血流量，增加前负荷，使发育不良的心室得到进一步发育。本研究旨在观察HLHS胎儿不同阶段的超声特征和分子学表现，尝试通过间歇氧疗促进心室不对称胎儿左心室的发育，缓解或逆转部分HLHS胎儿的宫内自然演变进程，改善预后，为宫内胎儿先心病的无创性治疗提供一种新的方法。

胎儿左心发育不良综合征（HLHS）是一种严重危及生命的复杂心脏病，在宫内大多具有自然演变的过程，胎儿病理学缺氧可能在HLHS病情进展中具有重要作用，氧疗可增加肺血回流量，增加左心血流量，改善心肌细胞氧供，从而促进左室及主动脉发育。研究期间共计产前检查胎儿心脏53120例，建立了不同孕龄胎儿心脏Z积分正常值。我们应用Z积分诊断HLHS变异型，并与胎儿心脏生长变异相鉴别,对于外院超声检查诊断为HLHS前来我院求诊的202例胎儿，经产前超声心动图系列追踪观察和产后超声复查以及一年追踪证实为正常左室生长变异，对这些外院诊断为HLHS的胎儿纠正诊断，使这些胎儿获得新生。我们的研究显示母亲间歇性中等浓度面罩氧疗能够促进大部分心室不对称胎儿左心室大小发育和心功能、缓解部分宫内胎儿HLHS（特别是临界型HLHS）自然演变的进程。共计已完成了61例心室不对称胎儿、49例临界型HLHS、22例典型HLHS胎儿的超声检查与诊断；完成了24例心室不对称胎儿和22例临界型HLHS和10例典型HLHS的间歇性氧疗，发现这三组的氧疗有效率分别为75%、59%和40%，随访时长3~46month，氧疗及随访阶段中母亲及胎幼儿均未发现明显副作用，成功拯救了32例胎儿生命。