孕早期超声观察腭线筛查胎儿唇腭裂

目的 评价孕早期超声观察腭线筛查胎儿唇腭裂的价值。方法 回顾性分析14 360胎接受超声颈后透明层厚度（NT）检查的孕早期胎儿,观察胎儿腭线表现,记录胎儿转归,评价孕早期超声观察腭线筛查胎儿唇腭裂的效能。结果 孕早期超声提示14 327胎（14 327/14 360,99.77%）腭线正常,其中7胎经随访证实存在唇腭裂;33胎（33/14 360,0.23%）腭线异常,其中4胎腭线为小裂隙,随访证实无唇腭裂,29胎随访证实腭线异常,包括小裂隙8胎、大裂隙4胎、前部缺失11胎及腭线变细/变短6胎。孕中期超声提示36胎唇腭裂,并于出生后或经引产证实,包括4胎单纯唇裂、10胎单纯继发性腭裂、17胎单侧唇腭裂,5胎双侧唇腭裂。超声观察腭线预测胎儿唇腭裂的敏感度为80.56%（29/36）,特异度为99.97%（14 320/14 324）,阳性预测值为87.88%（29/33）,阴性预测值为99.95%（14 320/14 327）。结论 孕早期超声观察胎儿NT平面腭线可作为筛查胎儿唇腭裂的指标,值得推广。     

矢状切面在妊娠早期超声筛查胎儿腭裂中的价值

目的探讨矢状切面在妊娠早期超声筛查胎儿腭裂中的价值。 方法回顾性选择2018年1月至2019年12月广东省妇幼保健院的31例妊娠早期腭裂的胎儿,分析头颈部超声检查矢状切面的异常征象,总结不同类型腭裂在矢状切面的超声表现以及其他结构异常情况。 结果（1）超声声像图表现：28例出现上颌骨间隙（90.3%,28/31）,其中14例为单侧腭裂,5例为双侧腭裂,9例为正中腭裂;27例表现为缺失“重叠线征”（87.1%,27/31）,其中正中腭裂5例,单侧腭裂15例,双侧腭裂6例,单纯腭裂1例;6例颌骨前突（19.4%,6/31）,均为双侧唇腭裂。（2）合并其他结构异常情况：妊娠早期及妊娠中期诊断腭裂病例中,合并胎儿结构异常分别占75.0%（15/20）、45.5%（5/11）,颈项透明层增厚分别占60.0%（12/20）、36.4%（4/11）。 结论矢状切面上颌间隙和缺失“重叠线征”是妊娠早期筛查胎儿腭裂的重要线索,颌骨前突是双侧腭裂的特征性超声表现。     

胎儿唇腭裂的超声诊断思路研究

目的:探讨胎儿唇腭裂的超声诊断思路。方法:回顾分析2013年9月-2020年2月在我院进行产前超声检查诊断的胎儿唇腭裂67例,对其超声图像进行总结,结合本组病例研究如何提高胎儿唇腭裂的超声诊断率问题。结果:本组67例胎儿唇腭裂中,单纯唇裂52例;单侧完全唇裂伴牙槽突裂4例;单侧完全唇裂伴完全腭裂2例;双侧完全唇裂伴牙槽突裂2例;双侧完全唇裂伴完全腭裂1例;正中唇裂6例。结论:超声检查胎儿唇腭裂具有较高的正确诊断率,但是,也有不少的病例容易漏诊误诊。欲提高胎儿唇腭裂的超声诊断率,需要做到产前超声检查的规范化、标准化,检查细致、耐心,把握超声检查的时机,适当借助于三维超声检查,注意可疑病例的复查。     

实时三维超声对胎儿唇腭裂的诊断价值

目的：探讨实时三维超声对胎儿唇腭裂畸形的诊断价值。方法：对妊娠25周以上孕妇行二维超声系统产科检查,对疑诊唇腭裂胎儿行实时三维超声检查。回顾性分析经分娩后证实的24例唇腭裂胎儿声像图表现,并对照分析210例正常胎儿鼻唇部结构。结果：24例唇腭裂胎儿中,单纯唇裂12例,唇裂伴腭裂11例,单纯腭裂1例,无正中裂。二维超声诊断符合率为83.33％,实时三维超声诊断符合率为91.66％,统计学处理,没有明显差异。结论：在胎儿唇腭裂超声诊断中,二维超声与三维超声诊断率基本相同,但三维超声在诊断胎儿唇腭裂中图像逼真、直观,可做为二维超声空间信息的补充。     

A novel technique for visualization of the normal and cleft fetal secondary palate: angled insonation and three-dimensional ultrasound.

OBJECTIVE: To evaluate the effectiveness of a novel approach to the visualization of the fetal secondary palate using three-dimensional (3D) ultrasound. METHODS: Sonographic examinations were performed in normal fetuses and in one fetus with cleft lip and palate. To avoid acoustic shadowing from the alveolar ridge, the secondary palate was insonated at a 45 degrees angle in the sagittal plane, and 3D ultrasound was used to reconstruct axial and coronal planes. RESULTS: The secondary palate was successfully visualized in 10 of 15 normal fetuses, both in the axial and coronal planes. In the fetus with cleft lip and palate the lesion of the secondary palate was clearly demonstrated, particularly in the coronal plane. CONCLUSION: Angled insonation and 3D ultrasound allow clear visualization of normal and cleft secondary palate.     

提高产前超声诊断胎儿唇腭裂效率的方法

目的分析临床病史结合唇腭部常规三切面、上牙槽突横切面、其他特殊切面与三维超声配合胎儿不同体位对提高产前超声诊断胎儿唇腭裂效率的协助作用。方法对我院2014年9月~2016年12月7000例中孕期（孕20~24+6周）胎儿行颜面部超声筛查,超声检查前常规询问病史,以规范化常规三切面、上牙槽突横切面作为筛查切面,有异常时应同时采集胎儿张口时和闭口时的二维图像,最后采集三维图像,与引产或分娩后患儿颜面部结果进行对照,比较各种方法对提高产前超声诊断唇腭裂畸形的效率与准确率的作用。结果7000例胎儿超声共检出唇腭裂27例,经引产和分娩证实唇腭裂29例,其中常规三切面组检出胎儿唇腭裂畸形20例,产前超声漏诊9例,超声诊断符合率为69%;常规三切面、上牙槽突横切面、其他特殊切面加三维超声组产前超声检出胎儿唇腭裂畸形27例,产前超声漏诊2例,产前超声诊断符合率为93%;对比两种方法在唇裂合并腭裂病例存在显著性差异（P<0.05）。结论超声医师检查前常规采集病史,检查时准确识别胎儿唇鼻部腭部正常结构和声像图特征,掌握常规三切面、上牙槽突横切面和其他特殊切面的手法和技巧,仔细观察胎儿唇鼻结构和张口闭口运动,同时应用三维超声表面成像模式,将会提高唇腭裂畸形的超声诊断率,给临床医生及孕妇提供可靠的信息。     

Magnetic resonance imaging and surgical repair of cleft palate in a four-week-old canine (Canis familiaris): an animal model for cleft palate repair.

Successful cleft palate repair (palatoplasty) was accomplished in a male canine pup from a kindred with autosomal recessive transmission for a complete cleft palate phenotype. This case represents the potential application of a new animal model for cleft palate repair. This reproducible congenital defect provides a clinically relevant model to improve research into the human anomaly, as compared with previous iatrogenic or teratogenically induced animal models. This case report presents the basis for new repair techniques and for studying the genetic basis of the cleft palate defect.     

Prenatal detection of associated anomalies in fetuses diagnosed with cleft lip with or without cleft palate in utero.

OBJECTIVE: The aim of this study was to determine the prenatal detection rate of associated anomalies in fetuses with a suspected cleft lip with or without cleft palate. METHODS: Fetuses with a suspected cleft lip with or without cleft palate, determined by prenatal ultrasound, were prospectively enrolled. Additional anomalies suspected by ultrasound or genetic testing were recorded. Postnatal outcome was obtained. RESULTS: Forty-five fetuses with a cleft lip with or without cleft palate, diagnosed prenatally with either two-dimensional and/or three-dimensional ultrasound, were studied. Postnatal follow-up revealed that 16 (35.6%) of these 45 fetuses had an additional structural or syndromic abnormality. Of the 37 fetuses with prenatally determined 'isolated' cleft lip with or without cleft palate, eight (21.6%) had an additional malformation identified after delivery. CONCLUSION: In pregnancies complicated by a cleft lip with or without cleft palate, patients should be informed of the risks of associated anomalies, some of which may be undetected prenatally.     

Two- and three-dimensional sonographic assessment of the fetal face. 2. Analysis of cleft lip, alveolus and palate.

OBJECTIVES: To describe the sonographic appearance of cleft lip with or without cleft palate (CL +/- P) using two-dimensional and three-dimensional (3D) ultrasound imaging. Also, to evaluate the accuracy of ultrasound to delineate with precision the bony extent of facial clefts, i.e. to differentiate clefts limited to the lips, or extending to the alveolus/premaxilla or the secondary palate. METHODS: This was a retrospective study based on the examination of fetuses diagnosed with an isolated CL +/- P. Cases included were either discovered at systematic screening or referred for further investigation. Clefts were characterized by their precise anatomical location and extent. The defect could include a cleft lip (CL), a cleft alveolus (CA), or a cleft of the secondary palate (CSP). RESULTS: We analyzed 96 cases of CL +/- P. The mean gestational age at examination was 28.2 +/- 4.1 weeks. The sonographic appearance of CL, CA, and CSP was depicted. Strict concordance of the sonographic report with the anatomical defect was present in 84 cases (87.5%). In eight cases, the severity of the cleft was underestimated: three cases of CA, four of CA + CSP and one of CSP were missed. In four cases, the cleft was overestimated as CA was incorrectly suspected. CONCLUSIONS: Systematic screening with sonography to detect prenatally CL +/- P requires the imaging of at least the mid-sagittal and the anterior coronal 'nose-mouth' views. Once the presence of a facial cleft is suspected, the three reference orthogonal planes are imaged in order to characterize the anatomical defect, and for each plane, the serial scans are thoroughly examined. This protocol allows precise delineation of the defect. Inclusion of 3D and 4D ultrasound imaging in the examination protocol allows easier and more rapid screening and more precise evaluation of the different cleft constituents.     

Efficacy of a simplified primary screening procedure for detection of hyperlipoproteinemias in a pediatric population.

We examined the efficacy of a simple primary screening procedure for detecting beta- and pre-beta-lipoprotein abnormalities in 3183 children, ages 5-14, residing in Bogalusa, Louisiana. This procedure is based on the ability of beta- and pre-beta-lipoproteins to form insoluble complexes with heparin in the presence of Ca2+; the turbidity produced by the reaction was considered as an index of the concentration of these two classes of lipoproteins. Our results indicate a close relationship (r = 0.88) between the beta- + pre-beta-lipoprotein index (turbidity) and the concentrations of these lipoproteins. Comparison of serum lipid and beta- + pre-beta-lipoprotein values of 5% of the children whose results fell outside the normal limits (upper and lower 5%) indicated that serum total cholesterol was not reflecting the beta- + pre-beta-lipoprotein concentration of a given child. The variability of alpha-lipoprotein concentration in these children accounted for this discrepancy. Measuring the serum beta- + pre-beta-lipoprotein index may be more useful for large-scale screening and for detecting subtle abnormalities than are determinations of either cholesterol or triglycerides.     

超声检查在基层医院胎儿畸形筛查中的困扰与思考

超声影像检查应用于产科观察胎儿并诊断胎儿疾病已有三十余年的历史,近年来发展更为迅速并成为产科不可缺少的影像诊断工具.超声不仅可以显示正常胎儿形态结构,实时观察胎儿在宫内运动、行为及血流动力学变化,且能对胎儿主要结构畸形进行筛查.在我国,虽然超声检查已广泛应用于妇产科临床,但有关基层医院胎儿产前检查的具体内容和检查规范等方面的资料较少[1-4],尚未形成统一认识.鉴于此,本文仅就国内基层医院超声检查在胎儿畸形筛查中的困扰作一初步分析,旨为提高我国产前超声诊断水平抛砖引玉.     

Prenatal diagnosis of cleft palate: contribution of color Doppler ultrasound.

The antenatal diagnosis of cleft palate by ultrasound can sometimes be difficult by conventional B-mode imaging, especially when the tongue is in its normal position.We describe two cases which illustrate the value of color Doppler in the antenatal diagnosis of cleft palate. In the first case, at 32 weeks' gestation, there was a large defect with a massive passage of flow extending from the buccal cavity into one of the nasal fossae. In the second case, at 22 weeks' gestation, a parasagittal view demonstrated the fetal tongue to be in the normal position, but there was an abnormal trajectory off low from the buccal cavity into one of the nasal fossae followed by an exit at the level of the cleft. Although a cleft lip was demonstrated on B-mode imaging, we would not have been able to make the diagnosis of cleft palate without color Doppler.This is the first report describing the contribution of color Doppler to the antenatal diagnosis of cleft palate.     

Sonographic screening for fetal aneuploidy: first trimester.

Screening for fetal aneuploidy is now possible during the first trimester using sonographic and biochemical markers. The aim of this review was to summarize the efficacy and use of nuchal translucency in screening for fetal aneuploidy, especially fetal Down syndrome, and other anomalies. We reviewed available literature regarding first‐trimester screening. This includes more than 16 studies of nuchal translucency as a marker for fetal aneuploidy published since 1995. Although early studies showed wide variation in detection of fetal Down syndrome when using nuchal translucency, more recent studies showed sensitivities of approximately 70% to 80%, for a 5% false‐positive rate. Increased nuchal translucency has also been found to be a marker for other aneuploidies, including trisomy 18, trisomy 13, and Turner syndrome. Maternal serum biochemical screening can be used as a test for aneuploidy during the first trimester The 2 maternal serum markers that appear to be most useful in the late first trimester are the free beta subunit of human chorionic gonadotropin and pregnancy‐associated plasma protein A. Together with maternal age, these markers yield a detection rate for trisomy 21 of approximately 60%, for a 5% false‐positive rate. Because sonographic and biochemical markers appear to be largely independent, their combined risk results in improved detection rates compared with either method alone. As a result, the combination of nuchal translucency, biochemical markers, and maternal age has achieved a detection rate of approximately 85%, for a 5% false‐positive level for detection of trisomy 21. A newly proposed "integrated" approach using a panel of first‐ and second‐trimester markers suggests that further improvement in the screening performance is possible. A number of questions regarding first‐trimester screening remain. We address some of these questions: is first‐trimester screening more effective than second‐trimester screening? How to account for intrauterine lethality? Is earlier diagnosis important, and will it be accepted by patients? Is first‐trimester screening cost‐effective? How should first‐trimester screening be interpreted with second‐trimester tests? Despite encouraging data and general enthusiasm for first‐trimester screening for fetal Down syndrome and other aneuploidies, a number of questions remain about its implementation in the United States. Multicenter studies currently under way should help answer some of these questions.     

The premaxillary triangle: clue to the diagnosis of cleft lip and palate.

OBJECTIVE: The prenatal detection rate of cleft lip and palate is low, especially in low-risk patients who undergo targeted sonography. The reason is that evaluating surface anatomy is relatively difficult and requires operator expertise. Our purpose was to describe a technique to improve the diagnostic accuracy of facial clefts (lip and palate) and to assess the feasibility of including this technique as part of standard protocol during targeted imaging. METHODS: A prospective study was done during 2000 through 2002 to evaluate the accuracy of the "premaxillary triangle (PMT) sign": a new sign to diagnose unilateral cleft lip and palate in women referred for prenatal sonography at our center. Patients with only isolated unilateral cleft lip and palate and cleft lip were included in this study. Before this, all examiners were trained to image the PMT. The images were reviewed by a senior consultant. It was later decided to include this sign as part of the protocol of targeted sonography done between 18 and 22 weeks in our institution. However, depending on the fetal position, the PMT was documented even in patients referred for the first time in late second and third trimesters. RESULTS: Twenty-nine cases of isolated facial clefts were diagnosed during the study period, of which 2 had unilateral cleft lip and 27 had unilateral cleft lip and palate. The PMT sign was absent in all cases of unilateral cleft lip and palate but was present in 2 cases of isolated cleft lip without cleft palate. CONCLUSIONS: The PMT sign can be easily incorporated into targeted sonography at 18 to 22 weeks' gestation. Its inclusion would help in increasing the detection rate of unilateral cleft lip and palate. It may also be potentially used for differentiating between isolated cleft lip and cleft lip and palate, which helps in better prenatal counseling.     

牵张成骨增高山羊牙槽嵴动物模型建立的研究

目的:采用山羊下颌无牙区及下颌第一前磨牙区构建牵张成骨增高牙槽嵴的动物实验模型,并研究此模型的有效性及可行性。方法:陕西关中山羊6只,选取一侧山羊下颌无牙区至下颌第一前磨牙根尖下方行矩形截骨,安装骨牵张器,间歇7d后牵张增高牙槽嵴,1次/d,1mm/次,共加力8d。分别固定4,8周后取材。行X线,临床大体和组织学观察。结果:平均牙槽嵴增高分别为7.5,7.0mm;X线片示:牵张后4周,牵张间隙已被新生骨组织所充填,新生骨较原有骨密度低。牵张后8周,新生骨密度与旧骨相同。组织学观察显示:牵张后8周有成熟的骨小梁及骨皮质形成。牵张区牙齿牙髓结构正常。结论:山羊下颌无牙区及下颌第一前磨牙区可作为牵张成骨增高牙槽嵴新的实验动物模型。     

TCOMs as a screening tool for hyperbaric oxygen therapy.

Transcutaneous oximetry (TcPO2), often referred to as TCOM, is a noninvasive measurement of oxygen tension in the tissue via a heated electrode. TCOMs can be used prior to beginning hyperbaric oxygen (HBO) treatment to determine if the patient has adequate blood flow to the wounded area to benefit from HBO. A case study of how it can be used in a problematic wound is presented.