超声诊断孕早中期胎盘植入

目的观察孕早中期超声诊断胎盘植入的价值。方法回顾性分析经引产手术证实的10例孕早中期胎盘植入的临床资料,观察孕早中期胎盘植入的超声声像图特点。结果 10例中,9例有剖宫产手术史。术前超声诊断胎盘植入6例,主要表现为胎盘低置,胎盘与子宫肌层间界限不清,胎盘后血流信号丰富、肌层变薄。术前超声漏诊4例。引产后48h复查超声,10例均见宫内胎盘植入残留表现。结论胎盘与子宫肌层间界限不清、胎盘后血流信号丰富及肌层变薄等二维超声图像特点对诊断孕早中期胎盘植入具有高度临床价值。     

产前超声筛查中孕期胎儿心脏畸形对诊断染色体异常价值的Meta分析

目的采用Meta分析探讨中孕期胎儿超声心动图检查发现孤立性室间隔缺损、除外孤立性室间缺损的其他心脏及大血管畸形对染色体异常的产前筛查价值。方法检索Cochrane Library、PubMed、EMBASE、SCI、万方、维普、中国知网数据库中的中英文文献,按照纳入和排除标准筛选文献并进行偏倚风险评价,提取相关资料,检验异质性并选择相应的效应模型合并效应量,采用Meta-Disc 1.4软件,计算汇总敏感度、特异度及95%CI,绘制汇总受试者工作特征曲线,计算曲线下面积,对异质性文献进行敏感度分析。结果共纳入12篇文献,6篇文献分析了孤立性室间隔缺损对染色体异常的产前筛查价值,8篇文献分析了其他心脏及大血管畸形对染色体异常的产前筛查价值。采用随机效应模型合并效应量,两组汇总敏感度、特异度分别为32%、99%及29%、99%,SROC AUC分别为0.833 7及0.884 6,两组的汇总敏感度差异无统计学意义(P0.05)。结论中孕期超声心动图显示胎儿心脏畸形对染色体异常有一定的产前筛查价值,胎儿孤立性室间隔缺损是染色体异常的危险因素,存在其他心脏及大血管畸形未使染色体异常的风险增加。     

产前诊断新生儿溶血病的实验方法及其临床应用

在母儿血型不合的新生儿溶血病中，ＡＢＯ型占８３％，Ｒｈ型占１７％。对４１例夫妇ＡＢＯ血型不合的孕妇，检查免疫抗体Ａ（Ｂ）ＩｇＧ，效价＜１：６４，无一例发生溶血病现象，１５例效价≥１：６４，新生儿发生程度不同的溶血病。观察６６例服用预防中药的孕妇免疫抗体，４５例下降１／２～１／４，发病率从７６．９％下降至２６．３％。检测羊水血型物质判定胎儿血型，可确定母亲是否需要预防。除非分泌型外，阳性符合率１００％。用分光光度计测定４５０ｎｍ羊水胆红素的光密度，计算“膨出部”的数值，可分为轻、中、重３区，结合胎龄预测病情。所测１９例，Ⅰ区１１例，Ⅱ区５例，Ⅲ区３例，预测与临床病情一致。检查孕妇Ｒｈ（Ｄ）因子１１２６１例，Ｒｈ（Ｄ）阴性为６．５‰。对于曾有过流产、人工流产及输血史的孕妇检查Ｒｈ因子更为重要。     

False-positive rate in prenatal diagnosis of surgical anomalies

Background/Purpose

Technical refinements and increasingly sophisticated equipment have led to higher sensitivity in prenatal diagnosis of congenital malformations; however, such progress may be accompanied by decreased specificity. The aim of this study is to evaluate evolution of prenatal diagnosis from the first sonographic suspicion of fetal anomaly until after delivery (diagnosis confirmed, resolution before birth, healthy baby, or affected with different disorder) to document rate of false-positive (FP) results.

Methods

Retrospective review of prenatal ultrasound examinations performed at our institution between 2000 and 2002 was conducted. The series includes pregnancies referred to our department after detection of thoracic and abdominal anomalies at routine obstetrical sonography and with a follow-up comprising at least the first 6 months of life. Urologic malformations were excluded. Those fetuses who proved healthy at birth were considered FP results.

Results

One hundred fifty-seven fetuses/neonates underwent complete follow-up. Prenatal diagnosis of esophageal atresia resulted in 3 (27%) of 11 FPs. Finding of dilated bowel, isolated or associated with hyperechogenicity or ascites, was not predictive of small bowel obstruction in 7 (41%) of 17 fetuses.No FPs were found with regard to abdominal wall defects (8 gastroschisis and 26 omphaloceles, all confirmed at birth). Concerning thoracic malformations, no FPs were seen among the 28 cases of congenital diaphragmatic hernia, whereas diagnosis of lung malformation presented a specificity of 97% (1/28 FP). Ovarian cysts accounted for an FP rate of 17% (4/23 FPs).Overall, a percentage of FP of 12% (6/50) was seen in 2000, of 11% (5/44) in 2001, and 9% (6/63) in 2002, with no statistically significant difference.

Conclusions

Because of the high FP rate regarding some particular anomalies, unnecessary psychological burden to prospective parents may ensue. This issue should be dealt with in future prospective studies.     

孕早期胎儿心脏结构的超声筛查

目的探讨孕11~13~(+6)周经腹部超声筛查胎儿心脏畸形的可行性及临床价值。方法于孕11~13~(+6)周对3360胎行心脏四切面扫查,包括胎儿四腔心切面、三血管切面、左心室流出道切面及右心室流出道切面。根据孕周分为A(11~11~(+6)周)、B(12~12~(+6)周)、C(13~13~(+6)周)3组,比较3组胎儿心脏切面满意显示率。并于该时期筛查胎儿严重心脏畸形并随访至中孕期。结果 C组心脏各切面显示率明显高于A、B组,差异有统计学意义(P0.05)。3360胎中于早孕期筛查出心脏异常12胎,并于中孕期得以证实。结论孕早期经腹部超声筛查胎儿严重心脏畸形是可行的。     

Reliability of ultrasound in the prenatal diagnosis of urinary tract abnormalities

To investigate the ability of ultrasonography to detect urinary tract abnormalities prenatally, we reviewed the records of 26 pregnancies diagnosed by prenatal ultrasound to have urinary tract anomalies. We compared the prenatal diagnoses with postnatal renal and urinary tract pathology. This comparison showed different degrees of agreement for different prenatal diagnoses (2 individuals had more than one diagnosis): 4 of 8 for multicystic kidneys, 1 of 1 for polycystic kidney disease, 1 of 2 for renal agenesis, 6 of 7 for ureteropelvic junction obstruction, 1 of 3 for posterior urethral valves, 4 of 5 for no pathology noted, and 2 of 2 for other abnormalities. Prenatal diagnosis and postantal findings were in agreement in 68% of cases. Varying levels of diagnostic reliability should be considered when managing pregnancies complicated by fetal urinary tract abnormalities and subsequent postnatal evaluation and diagnosis. Further efforts are needed to improve on the techniques and reliability of prenatal diagnosis of urinary tract abnormalities.     

Prenatal diagnosis and management of abdominal diseases in pediatric surgery

Purpose

The aim of this study was to investigate the prenatal courses and management of abdominal surgical diseases.

Methods

Of the 327 patients registered with our fetal treatment board since March 2002, 83 fetuses referred to the surgical department were enrolled for the current study. The prenatal diagnosis, sequential fetal images, and perinatal courses of these cases were reviewed retrospectively.

Results

Of the 83 cases, abdominal diseases were suspected in 34, lung and thoracic diseases in 25, genitourinary diseases in 12, and other anomalies in 12. Meconium peritonitis (MP), intestinal obstruction, and abdominal wall defects accounted for approximately 65% of the abdominal diseases. Five patients with prenatally diagnosed lung diseases underwent fetal surgical intervention, and 17 of the 22 liveborn patients survived. In contrast, none of the patients with prenatally diagnosed abdominal anomalies underwent fetal surgical intervention, yet, 23 of the 24 liveborn patients survived. However, preterm labor and hydrops were seen frequently in the patients with giant cystic MP, suggesting a fetal critical condition.

Conclusions

Although the clinical outcome of abdominal diseases seemed favorable with postnatal treatment, the current results suggested the occurrence of hidden mortality in utero and the potential need for fetal intervention for some abdominal conditions, such as MP.     

308例高危妊娠产前诊断CMA技术发现不明确拷贝数变异的结果分析

目的探讨染色体微阵列分析(CMA)在高危妊娠产前诊断中的应用,观察其中临床意义不明的染色体拷贝数变异(VOUS)结果构成及相关特性,分析将该技术广泛应用于产前染色体病诊断临床检测的可行性。方法选择2014年1月1日至2017年6月1日期间于北京协和医院就诊并接受产前诊断,同时进行CMA及核型分析检测的孕妇308例,对其CMA检测的结果进行分类分析并与核型分析相比较,分析其中不明确意义结果的构成以及相关特性。结果所有入组病例中88.0%为各种胎儿结构异常、软指标异常、胎儿生长受限及胎儿水肿。全基因组检测未发现明确染色体拷贝数改变(CNV)或明确多态性改变的病例217例,占70.5%;发现明确致病性染色体数目或片段异常共44例,占14.3%。其中发现染色体非整倍体异常21例,性染色体数目异常6例,染色体致病性CNV结果17例。此外发现不明意义的CNV诊断结果47例,占总病例数的15.3%。其中致病性判读为偏良性的23例,临床意义不明为21例,含符合报告标准的杂合性缺失(LOH)1例,偏致病性的3例。进一步分析各种VOUS病例的片段大小分布及判读依据类型。与核型分析的异常阳性率10.7%比较,全基因染色体芯片诊断明确致病性的染色体异常阳性率为14.2%,诊断阳性率提升3.5%。结论全基因组染色体芯片对于超声发现胎儿结构异常的遗传诊断能力较核型分析有较大的提升,但同时也会有VOUS病例增加遗传咨询的难度。目前国内产前诊断VOUS结果的比例较高,这与本地化数据库不完善,缺乏国内具体的芯片结果判读标准等有关。     

Congenital symptomatic intrahepatic arteriovenous fistulas in newborns: management of 2 cases with prenatal diagnosis

Background

Fetal and neonatal hepatic arteriovenous fistulas are rare and associated with a high mortality rate; they can be prenatally detected by ultrasonography. Management of these malformations can be a challenge for pediatric surgeons.

Methods

Two patients with a prenatal diagnosis of intrahepatic arteriovenous shunts were treated at our institution in the last 2 years. A hepatic complex arteriovenous malformation fed respectively by prominent branches of the hepatic artery and of the celiac trunk rising from dilated suprarenal aortae and draining into suprahepatic veins was detected. In the first case, an embolization was performed; in the second, the surgical resection of the vascular malformation was the treatment of choice.

Results

The first patient died after embolization and before surgery for hemodynamic complications. The second patient, at a follow-up of 16 months, is alive and doing well.

Conclusion

Hepatic resection is the treatment of choice for localized intrahepatic arteriovenous malformation. Theoretically, embolization could be curative or reduce the size of a malformation, making consequent hepatic resection feasible. Results do not support this theory because of the high rate of complications recorded that brought in every case, ours included, to the death of the child.     

染色体微阵列分析技术在759例不同产前诊断指征孕妇羊水中的临床应用分析

目的 探讨染色体微阵列分析技术(CMA)在不同产前诊断指征中的临床应用分析,以期促进临床医生对羊水诊断指征的准确把握,提高诊断效率.方法 回顾性分析本院2016年1月至2019年9月共759例产前羊水样本的CMA检测结果,分析阳性诊断率与不同产前诊断指征的相关性.结果 759例产前羊水共检出126例致病病例,异常检出率...     

Comparing characteristics and outcomes in infants with prenatal and postnatal diagnosis of esophageal atresia

Background

Previous studies of infants with esophageal atresia (EA) suggest those diagnosed prenatally have worse outcomes because of a higher incidence of associated anomalies. The purpose of this study was to compare characteristics and outcomes of infants with EA diagnosed after fetal center evaluation to those diagnosed postnatally.

Methods

The records of all neonates treated for EA at our institution from 2002–2012 were reviewed. Infants with a prenatal diagnosis of EA were compared with those postnatally diagnosed using chi-square and Student t-test as appropriate.

Results

Of 91 patients treated with EA during the study period, 15 (16%) were diagnosed prenatally at our fetal center. Although those prenatally diagnosed had a higher incidence of pure EA and polyhydramnios, the gestational age and birth weight in that group were similar to those diagnosed postnatally. There were no differences in outcomes between groups with regard to the incidence of major cardiac anomalies, surgical complications, hospital length of stay, and survival.

Conclusions

Treatment at a tertiary care center provides excellent outcomes for all infants with EA, despite an 80% frequency of concurrent anomalies. Prenatal diagnosis of EA and attentive obstetric management of polyhydramnios decrease the risk for prematurity and prematurity-associated morbidity.     

胎儿足底形态在诊断马蹄内翻足中的应用

目的评价胎儿足底形态在诊断马蹄内翻足中的应用价值。方法将产前常规超声检查怀疑马蹄内翻足的42只胎足（共27胎）作为病例组,另随机选取18～39周正常胎足207只（共129胎）作为正常对照组,分别测量两组的足宽、足长,并计算二者的比值。对病例组于产后随访或引产后进行测量,采集足印,测量双踝角大小。比较病例组与正常对照组胎足的足宽、足长及二者比值,并对患足的足宽与足长的比值与产后测量的双踝角大小进行相关性分析。结果病例组与正常对照组相比,足宽、足长及二者比值差异均有统计学意义（P均〈0.05）,且患足足宽与足长的比值与产后测量的双踝角大小之间存在负相关（r=-0.851,P〈0.05）。结论胎儿足底形态可为产前诊断马蹄内翻足提供更多信息,具有较高的应用价值。与正常足相比,患足更宽、更短,且当足宽与足长的比值越大时,双踝角越小,提示马蹄内翻畸形越严重。     

时间-空间相关成像技术联合反转模式诊断胎儿先天性心脏病

目的评价时间-空间相关成像(STIC)技术联合反转模式在产前诊断胎儿先天性心脏病中的应用价值。方法收集15胎先天性心脏病胎儿和54胎正常胎儿,每胎获取两组容积数据,分别以四腔心胸腔横断切面和主动脉弓长轴切面为初始采集平面,再用反转模式对容积数据进行重建。结果 54胎正常胎儿共获取108组容积数据,对其中103组容积数据成功进行了反转重建;对15胎先天性心脏病胎儿均成功进行反转重建;重建图像均能直观地显示心内结构和心外血管的空间位置关系。结论 STIC技术联合反转模式重建图像可提供更多重要解剖信息,有助于更好地产前可视化诊断胎儿复杂性先心病。     

超声早期诊断类风湿关节炎

类风湿关节炎是一种以慢性破坏性关节病变为特征的自身免疫性疾病,临床、实验室检查与放射学检查对早期诊断的作用有限。高频灰阶超声软组织分辨力较高,能够区分渗出性和增殖性滑膜病变;能量多普勒超声有助于区分活动性和非活动性关节病变;CEUS可提高检出滑膜增厚、滑膜血管增生等病变的敏感性。超声检出骨侵蚀的能力优于放射学检查,还可随访和监测治疗效果。     

多普勒超声在全训部队人员阴囊疾病诊断中的应用

目的探讨多普勒超声在全训部队人员阴囊疾病诊断中的应用价值。方法回顾分析450例阴囊超声检查阳性的全训部队患者(Ⅰ组)的资料,对担负高原运输任务的152名驾驶员(Ⅱ组)进行阴囊多普勒超声检测,并与150名无临床症状的地方男性青年(Ⅲ组)相对比。结果 I组中附睾炎及附睾睾丸炎占43.33%(195/450),精索静脉曲张占22.44%(101/450);Ⅱ组亚临床型精索静脉曲张和睾丸微石症(TM)发生率高于Ⅲ组(P0.001);Ⅱ组与Ⅲ组睾丸及附睾内动脉血流参数比较差异无统计学意义(P0.05)。结论彩色多普勒超声是诊断全训部队人员阴囊疾病的首选检查方法。     

64层螺旋CT泌尿系成像在泌尿系病变中的应用

目的探讨多层螺旋CT泌尿系成像（MSCTU）在泌尿系病变中的应用价值。方法采用64层螺旋CT对60例临床疑诊泌尿系病变患者行泌尿系容积扫描及三维重建,评价MSCTU对泌尿系病变的诊断价值。结果泌尿系肿瘤14例,输尿管息肉2例,泌尿系结核9例,泌尿系结石13例,良性狭窄并积水13例,邻近器官病变累及输尿管致积水2例,泌尿系外伤性病变2例,肾梗死1例,术后随访复查者4例,未见异常2例。其中28例经手术病理证实,MSCTU诊断泌尿系肿瘤的敏感度100%（14/14）,特异度85.71%（12/14）,准确率92.86%（26/28）。结论 MSCTU能够直接清晰显示肾脏、输尿管、膀胱病变,可作为临床疑诊泌尿系病变患者、特别是肿瘤患者的首选检查方法。     

Non-invasive prenatal diagnosis (NIPD) of cystic fibrosis: an optimized protocol using MEMO fluorescent PCR to detect the p.Phe508del mutation

Background

Analysis of cell-free foetal DNA (cff-DNA) in maternal plasma is very promising for early diagnosis of monogenic diseases; in particular, cystic fibrosis (CF). However, NIPD of single-gene disorders has been limited by the availability of suitable technical platforms and the need to set up patient or disease-specific custom-made approaches.

血清总胆汁酸与肝功能酶学指标联合检测在肝脏疾病术前诊断中的应用

目的探讨联合检测血清总胆汁酸(TBA)与肝功能酶学指标在肝脏疾病术前诊断中的应用价值。方法选取2012年6月至2013年9月在我院住院手术的肝脏疾病患者120例(其中急性胆囊炎30例,肝硬化50例,肝癌40例)和40例健康对照组,分别检测其血清TBA与肝功能酶学指标含量,分别比较各组指标的浓度变化。结果急性胆囊炎组、肝硬化组以及肝癌组和健康组相比,血清TBA、ALT、AST、GGT和ALP水平明显偏高;急性胆囊炎组TBA水平最高,肝硬化组、肝癌组TBA水平均低于急性肝炎组,差异有统计学意义(P0.05)。结论联合检测血清总胆汁酸与肝功能酶学指标在临床实践中对了解和肝脏疾病术前诊断有着一定的意义,值得在临床上推广。