经产前超声诊断先天性畸形的外科干预

目的探讨先天性畸形产前超声诊断与小儿外科干预措施的价值。方法总结我院近3年收治25例先天性畸形的超声检查与临床资料。畸形包括消化道9例(36％)，泌尿系7例(28％)，腹壁4例(16％)和其它系统5例(20％)。结果本组25例中24例经手术或产后超声证实了产前诊断，特异性为96％。1例终止妊娠；16例经手术(急诊手术11例)治疗的患儿中13例治愈，2例因合并其他畸形家长放弃治疗，1例死亡；药物注射治愈胸壁淋巴管瘤1例；7例泌尿系畸形均在随诊观察中：结论超声检查是诊断宫内先天性畸形的首选和重要手段。我国先天性畸形产前诊断的水平及范围还很不平衡，本组诊断水平较高与地域有关。多数畸形适于早期手术治疗，而大部分泌尿系畸形需随诊观察。小儿外科医师应积极参与先天性畸形的产前诊断和围产期管理，使患儿得到及时、妥当的治疗，可进一步提高先天性畸形的诊治水平。     

胎儿先天性心血管畸形产前干预

在医学及伦理学理论指导下,对严重先天性心血管畸形的产前干预探索逐步展开.目前,超声引导经皮/子宫穿刺胎儿宫内心脏介入手术,避免了胎儿体外循环和胎儿外置,对子宫/羊膜腔/胎儿刺激减小,充分考虑了母亲安全等优越性,逐渐成为严重先天性心血管畸形产前干预的主流方式.随着超声技术发展、操作器械改进、患者筛选标准口趋合理、治疗方案不断完善和对胎儿心脏解剖和功能特点深入了解,胎儿先天性心血管畸形产前干预必将进入新的层面.     

胎儿十二指肠狭窄与闭锁的产前诊断及处理

目的探讨先天性十二指肠闭锁和狭窄（CDA和CDS）的产前诊断及处理方法。方法回顾性分析本院2004～2008年21例常规超声检查或外院转诊并经住院引产或分娩证实为CDA或CDS患儿的临床资料。结果11例合并染色体异常及其他结构异常的孕妇选择引产；2例无其他结构异常，染色体正常的孕妇选择引产；8例继续妊娠，定期超声监测，出生后转至新生儿外科手术治疗，其中7例痊愈，1例因早产合并其他并发症死亡。结论“双泡征”可作为CDA和CDS的重要诊断标准。一经诊断应行染色体核型分析。对于无合并其他畸形的CDA和CDS患儿出生后应转至新生儿外科。产前诊断有助于降低新生儿患病率和病死率。     

胎儿腹部病变的产前诊断及围产期处理

目的总结胎儿腹部病变的产前诊断经验。方法对21例产前超声检查发现腹部异常的可疑畸形胎儿进行动态观察和围产期处理。结果20例患儿符合诊断,并根据出生后的检查对18例进行了随访、早期手术或择期手术,1例伴有染色体异常的肛门闭锁患儿放弃治疗,1例双侧重度肾积水患儿于妊娠38周终止妊娠。结论对产前超声检查发现腹部异常者应进行产前咨询和动态观察,根据出生后的综合检查进行围产期处理,有助于提高围产期腹部畸形儿的治疗效果。     

胎儿肾积水的产前诊断及产后干预探讨

目的探讨胎儿肾积水的病因、产前诊断及预后情况。方法2007年7月至2014年2月经本院产前超声检查诊断为胎儿肾积水的患儿131例，其中单侧89例，双侧42例。按不同胎龄及肾盂前后径（APD）将其分类，并在儿外科一直随诊至2 岁。结果131例患儿中，72例（54．96％）出生后3个月超声检查获自愈；45例（34．35％）有明显好转；7例（5．34％）稍有好转；4例（3．05％）无明显变化；3例（2．30％）加重；出生后6个月时超声检查，45例明显好转的病例自愈，7例稍有好转的病例中4例自愈，3例有进一步好转，随诊至1岁也自愈；4例无变化和 3例加重患儿分别给予手术治疗，随诊至3岁。结论胎儿肾积水的病因复杂多样，临床分为生理性和病理性，预后差别较大。     

26例产前确诊先天性畸形的外科干预

目的 探讨儿外科医生在胎儿出生前后对先天性胎儿畸形进行干预的可行性.方法 对江苏省淮安市妇女儿章医院筛杳的胎儿先天性畸形进行分析,对其中可治性的疾病进行干预并经外科证实,根据需要安排合适的治疗方案.结果 本组共26例,均经外科干预并证实,给予合理的治疗,取得满意的疗效.结论 对于可治性胎儿畸形,儿外科给予积极干预及合理的治疗是可行的,可避免盲目终止妊娠,符合我国的优生优育政策,对发展我国的胎儿外科有帮助.     

产前超声检查胎儿侧脑室增宽的临床意义

目的 探讨产前超声检测胎儿侧脑室增宽的临床意义. 方法 对孕20～ 41周的孕妇进行胎儿系统筛查,选择侧脑室＞10 mm的胎儿,每3～4周进行1次超声检查,观察侧脑室的动态变化及其他异常情况,进行染色体及病毒学检查,直至足月分娩,并随访至1岁. 结果 共检出133例侧脑室增宽的胎儿,其中轻度增宽的胎儿（10 mm＜侧脑室≤12 mm）79例;77例自行消退,预后良好;2例因染色体异常引产.中度增宽的胎儿（12 mm＜侧脑室≤15 mm）43例;25例自行消退,预后良好;4例宫内缺氧或发育迟缓,3例预后良好;12例因染色体异常或巨细胞病毒感染或合并其他畸形引产;2例侧脑室进行性增宽,最终因＞15 mm引产.重度增宽的胎儿（15 mm＜侧脑室）11例;9例合并其他畸形胎儿引产;2例孕至足月,其中1例出生后出现脑瘫,1例出生后智力和生长发育明显低于同龄儿. 结论 对侧脑室轻中度增宽的胎儿进行动态观察,并进一步进行染色体和病毒学检查,不合并其他畸形的胎儿妊娠结局良好,重度侧脑室增宽及合并其他畸形的胎儿,其妊娠结局不良.     

胎儿外科的建立与发展

二十世纪中期以前,医生们将新生儿作为救治的最小患者。随着对各种先天性畸形自然病程的深入认识,学者们逐渐意识到宫内干预有可能改变某些严重先天性畸形的病程和预后。对于在宫内有生命危险或者一出生就必须接受紧急处理的先天性畸形,有必要在胎儿期进行外科干预。     

先天性肾脏疾病的宫内诊断

1970年Garrett 首次报道使用超声诊断胎儿多囊肾,随后于1975年超声发现一例胎儿阻塞性肾病。随后超声技术的进步不仅表现在对胎儿解剖结构的识别能力,而且扩大了常规检查的范围,即使没有明显的指征,也可进行超声检查,故胎儿畸型的诊断率迅速提高,阳性率约为超声检查的1-2‰,其中20-30%为泌尿     

先天性畸形产前超声诊断与临床价值评估

目的探讨产前诊断先天性畸形的超声影像学特点及临床价值。方法总结我院1999年6月～2007年1月接诊的156例产前诊断先天性畸形的临床和超声检查资料并分析。结果典型超声征象：①食管闭锁：羊水过多和胃泡影消失；②十二指肠梗阻：“双泡征”，伴羊水过多；③小肠闭锁：腹部多个囊泡；④脐膨出与腹裂：腹腔脏器于中腹部膨出腹腔外，有包膜为脐膨出，无包膜为腹裂；⑤先天性膈疝：腹腔脏器疝入胸腔伴纵隔、心脏移位及腹围减小；⑥肾积水：肾盂扩张；⑦腹腔囊性肿物：根据囊肿部位、性质、与周围脏器关系等进行诊断；⑧血管瘤、淋巴管瘤：根据瘤体质地、部位和血供情况等进行诊断；⑨脑积水：不同程度和部位的脑室扩张。结论超声检查为先天性畸形产前诊断的主要手段。常见的十二指肠梗阻、脐膨出、腹裂、肾积水等畸形的产前诊断准确率高。了解产前超声检查征象、诊断价值及临床意义，有助于临床医生更好地把握畸形儿病情、向家长解释病情和制定正确的治疗方案。     

先天性畸形围产期干预的系统化管理

目的报告对产前诊断先天性畸形的围产期干预进行系统化管理的实践经验，并讨论相关问题。方法本管理模式由“产前诊断和分娩中心”与“新生儿治疗及随诊中心”组成，两个中心随时保持业务交流与合作。管理模式的运行：超声科及产科医生通过超声等影像学检查发现畸形，家长到新生儿外科门诊咨询，必要时学科问进行业务交流与讨论，按计划分娩，并根据病情选择：配备转运暖箱的救护车接诊、普通救护车常规转诊、或留产院观察及出院后到新生儿外科门诊。转诊患儿急诊手术、择期手术或观察。结果2003年3月至2008年12月本院共接待经产前超声诊断各种类型先天性畸形的产前咨询与诊疗共322例。其中34例（10．6％）引产或生后放弃治疗；89例通过各种方式转诊至本院；76例（23．6％）于新生儿期手术，治愈率为89．5％；212例（65.8％）继续妊娠或出生后观察。结论本管理模式为适应我国现实医疗环境和北京市医疗资源配置的具体情况而建立，可以使患儿（及准父母）得到产前诊断、咨询、监测，生后转运、治疗及随访的系统化管理，对进一步提高先天性畸形的总体治疗水平起到了积极作用。     

Mothers' adaptation to antenatal diagnosis of surgically correctable anomalies

OBJECTIVE: To assess the applicability of Drotar model when the diagnosis of congenital malformation is made antenatally. METHODS: In a 3-year period (2000-2003) fifty mothers, counselled for fetal malformations amenable to surgical correction at birth, were interviewed. Statistical associations were sought between each stage of the adaptation process and type of anomaly, gestational age at diagnosis, maternal age, educational background and previous miscarriage. Emotional experience at each stage was studied as dichotomous variables. RESULTS: Fetuses were affected by the following anomalies: abdominal wall defects (11), intestinal atresia (14) and diaphragmatic hernia (25). All mothers experienced stage one, two and three. No association was found between anger, type of anomaly, maternal age, educational background, and age at diagnosis. On the contrary, such association was statistically significant for previous miscarriage. Thirty-nine mothers reached the adaptation stage while none of them experienced that of reorganization. CONCLUSION: Despite significant differences, the adaptation process proposed by Drotar to describe parents reactions is applicable in prenatal age.     

胎儿先天性心脏病产前诊断与临床意义

先天性心脏病是最常见的出生缺陷之一.孕早期先天性心脏病筛查的方法主要有颈后透明层厚度测量、静脉导管血流测量以及直接进行胎儿超声心动图检查等.孕中期绝大部分的胎儿心脏病可以直接通过胎儿超声心动图检查获得诊断,除心脏解剖结构畸形外,心律失常的诊断以及心功能的评估也是重要检查内容.加强先天性心脏病的相关基因研究,也能够为产前...     

胎儿心脏结构异常的超声诊断研究

目的：探讨超声心动图检测胎儿心脏结构异常的诊断价值及临床意义。方法：总结分析我院9 352 例胎儿超声心动图资料。结果：检出472例胎儿心脏结构异常,其中室间隔缺损97例,房室共同通道53例,房间隔缺损49例,法洛四联症26例,永存动脉干21例,三尖瓣下移畸形20例,其他类型心脏结构异常206例。其中17例伴有胎儿心律失常。初次胎儿超声心动图检查发现伴有胎儿心力衰竭9例、胎儿水肿5例。结论：胎儿超声心动图的应用有助于早期检出心脏结构异常并指导患胎的处理。胎儿超声心动图对胎儿先天性心血管畸形准确的诊断及评价是胎儿心脏宫内干预和监测的基础。［中国当代儿科杂志,2010,12（2）：99-102］     

Impact of fetal counseling on outcome of antenatal congenital surgical anomalies

Aim

To analyze the impact of counseling on antenatal congenital surgical anomalies (ACSA).

Methods

Cases presenting with ACSA for fetal counseling and those presenting in post-natal period following diagnosis of ACSA (PACSA) for surgical opinion were analyzed for spectrum, presentation and outcome.

Results

117 cases including ACSA(68);PACSA(49) were analyzed. Gestational age at diagnosis of ACSA;PACSA was 17–37;17–39 weeks (median 24;32 weeks). Diagnoses in ACSA;PACSA included urological (26;31), neurological (10;5), congenital diaphragmatic hernia (CDH)(5;1), gastrointestinal (5;5), lung and chest anomalies (5;1), intraabdominal cysts (4;1), abdominal wall defects (4;0), tumors (3;3), limb anomaly (1;1), esophageal atresia (1;1), conjoint twins (1;0), hepatomegaly (1;0), and major cardiac anomalies (2;0). Two antenatal interventions were done for ACSA; vesicoamniotic shunt and amnioinfusion for oligohydramnios. 17;24 ACSA;PACSA required early surgical intervention in post-natal period. Nine ACSA underwent medical termination of pregnancy and 4 had intrauterine demise. Nine ACSA babies died including two CDH, one gastroschisis, one duodenal atresia, one conjoint twins, one megacystitis with motility disorder and three posterior urethral valves. All PACSA babies survived.

Conclusion

Fetal counseling for CSA portrays true outcome of ACSA with 32.3% (22/68) mortality versus 0% for PACSA due to selection bias. However, fetal counseling ensures optimal perinatal care.

     

胎儿先天性心脏病产前诊断与生后治疗一体化模式的探讨

目的 探讨胎儿先天性心脏病产前诊断与生后治疗一体化模式.方法 2006年8月至2010 年5月共有46位孕妇在我院产前诊断出胎儿先心病并选择继续妊娠.在我院产科自然分娩或剖腹产,胎儿出生后24 h内复查心脏超声,连续监测经皮血氧饱和度,由小儿心内科、小儿心外科、新生儿科联合制定治疗和随访方案.结果 孕妇剖腹产36例,自然分娩10例;共分娩活产新生儿47例,男40例,女7例;平均胎龄(38.0±1.4)孕周,平均体重(3.00±0.44) kg;产前和生后主要心脏畸形诊断相符.10例动脉导管依赖型复杂先心病患儿新生儿期静脉滴注前列腺素E.23例接受外科手术治疗,其中15例于新生儿期手术.7例行内科介入治疗,4例经皮肺动脉瓣成形术,3例行房间隔或室间隔缺损封堵术.16例随访患儿中2例室间隔缺损自然愈合,7例房间隔缺损和5例室间隔缺损等待择期治疗,2例随访丢失.30例已治疗的患儿中21例心脏结构恢复正常,7例心脏瓣膜存在轻微改变,术后死亡2例(病死率6.7％).结论 产前诊断与生后治疗一体化模式符合先天性心脏病诊治的发展趋势,需要多科室合作,才能及早发现胎儿心脏畸形,预测胎儿出生后的变化,消除复杂先心病出生后的急危重状态,提高生后治疗的成功率.     

孕妇血清微小RNA-423对胎儿神经管缺陷产前诊断的意义

目的 母亲血清中微小RNA(microRNA,miRNA)的发现为无创性产前诊断开辟了新途径.但是对神经管缺陷胎儿母亲血清中妊娠相关的miRNA的研究甚少.该文旨在研究微小RNA-423(mi-croRNA-423,miR-423)在神经管缺陷胎儿孕妇血清中的异常表达及其作为潜在诊断标志物的临床价值.方法 33例产前超声检查确诊为胎儿神经管缺陷的患儿为研究对象,其中脊柱裂22例,无脑儿11例;33例胎儿健康孕妇为对照组.所有孕妇均于清晨空腹抽外周静脉血5ml离心后取血清,提取血清总RNA,用Real-time RT-PCR方法测定miR-423表达水平.并用ROC曲线分析用miR-423诊断胎儿神经管缺陷的价值.结果 神经管缺陷胎儿孕妇血清中miR-423含量(0.96±0.14)明显低于健康胎儿孕妇对照组(2.28±0.43),P＜0.05.ROC分析miR-423曲线下面积为0.711(95％ CI:0.566～0.856)(P＜0.05).另外,对不同类型的神经管缺陷孕妇血清中的miR-423表达水平分析发现,只有在无脑儿中表达降低(0.58±0.08)差异有统计学意义.结论 孕妇血清中miR-423可作为胎儿神经管缺陷的无创性产前诊断标志物,具有潜在的临床价值,可能预示胎儿神经管缺陷严重程度.     

Late-onset holocarboxylase synthetase-deficiency: pre- and post-natal diagnosis and evaluation of effectiveness of antenatal biotin therapy

The clinical and biochemical findings in a family with late-onset holocarboxylase synthetase (HCS) deficiency are described. The index patient had two life-threatening episodes of metabolic decompensation at the age of 13 and 18 months with ketotic hypoglycaemia, vomiting and progressive loss of consciousness. The child recovered without biotin therapy. Organic aciduria characteristic of multiple carboxylase deficiency (MCD) was found, however, the key metabolites were only slightly elevated in some samples. Biotinidase deficiency was considered but excluded by the finding of normal plasma biotinidase activity. The correct diagnosis was made only at the age of 19 months when severe MCD was found in lymphocytes in the presence of normal plasma biotin concentration. HCS deficiency was confirmed by fibroblast studies. Biotin therapy (20 or 40 mg/day) prevented further episodes and normalized biochemical parameters with so far normal development. During two subsequent pregnancies, 10 mg biotin/day was administered to the mother from the 20th week of gestation. At delivery plasma biotin in cord blood samples was 3–4 times higher than in maternal plasma. The 2nd child was unaffected. In the 3rd pregnancy prenatal diagnosis was performed at 16 weeks of gestation. The concentration of methylcitrate in amniotic fluid was within the normal range and that of 3-hydroxyisovalerate only slightly elevated. However, enzyme assays in cultured amniotic fluid cells were consistent with an affected fetus. At birth, carboxylase activities in lymphocytes of this newborn were only moderately decreased to 37% of mean normal. HCS deficiency was confirmed postnatally in fibroblasts. Development remains normal on biotin therapy (20 mg/day). Conclusion Prenatal diagnosis in families with milder forms of HCS deficiency has to be performed by enzyme assays in cultured amniotic cells since organic acid analysis of amniotic fluid may be inconclusive in affected fetuses. Biotin administered prenatally is effectively taken up by the fetus and prevents functional deficiency of the carboxylases in an affected newborn. Received: 4 August 1997 / Accepted in revised form: 21 November 1997     

Imaging of fetal cerebral ventriculomegaly: a guide to management and outcome

Ultrasound imaging is the screening modality of choice for initial evaluation of the fetal central nervous system. However, there are times when fast magnetic resonance imaging (MRI) provides information additional to that available from ultrasound. This review will: (1) discuss the ultrasound evaluation of ventriculomegaly and its associated anomalies; (2) illustrate and expand upon the type of additional information MRI can provide beyond that which is available from ultrasound; and (3) discuss how this additional information can alter diagnosis as well as change maternal counselling and case management.