Premaxillary protrusion: a sonographic clue to bilateral cleft lip and palate

Sonograms from 49 fetuses with cleft lip, with or without cleft palate, were reviewed. Among 37 fetuses with adequate pathologic or clinical correlation, 10 (27%) demonstrated premaxillary protrusion, seen as a paranasal echogenic mass. Nine of ten fetuses with a paranasal echogenic mass proved to have bilateral cleft lip and cleft palate. Conversely, only two of 27 fetuses who did not show a paranasal echogenic mass proved to have bilateral cleft lip and cleft palate, and neither of these fetuses showed premaxillary protrusion at birth. Sonographic evaluation of the cleft alone erroneously misclassified eight fetuses with bilateral cleft lip and cleft palate as having unilateral clefts. Premaxillary protrusion is an important clue to the presence of cleft lip and cleft palate and may be more conspicuous than the cleft itself. Furthermore, the presence of a paranasal echogenic mass favors the presence of bilateral cleft lip and cleft palate, even when sonographic evaluation of the cleft itself suggests a unilateral cleft. This information should be useful in the detection and management of fetuses with suspected facial clefts.     

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.     

Experience of teenagers born with cleft lip and/or palate and interventions of the health nurse

The objective of this study was to describe and understand the experiences of teenagers with cleft lip and/or palate. The human ecology approach of Bronfenbrenner (1979) was chosen as a basis for this study. From this perspective, the living environment of teenagers with cleft lip and/or palate was considered, and as such, qualitative research from an ethnographic standpoint was conducted. The data were collected by semistructured interviews and recorded on magnetic tape. Ten teenagers, between 15 and 17 years of age, were chosen and consulted while undergoing therapeutic treatment and surgery in a cleft lip and/or palate clinic. The results of this study indicate that teenagers born with this congenital malformation experience various physical, functional, or interactional problems throughout their development. To improve this situation, nursing care has been developed to enable the nurse to act within the multidisciplinary team treating cleft lip and/or palate cases, thereby allowing the teenager to develop in an environment that offers a better quality of life.     

Prevalence of aneuploidy and additional anatomic abnormalities in fetuses and neonates with cleft lip with or without cleft palate: a population-based study in Utah.

OBJECTIVE: To determine the prevalence of aneuploidy and additional major anatomic abnormalities in fetuses and neonates with cleft lip with or without cleft palate. METHODS: All cases of cleft lip with or without cleft palate (cleft lip/cleft palate) occurring in Utah from 1995 through 1999 were reviewed by using the Utah Birth Defect Network population-based surveillance system. All pregnancy outcomes are included (stillborn, live born, and termination) in this analysis. RESULTS: Of 263 cases of cleft lip/cleft palate, 72 (27.4%) were unilateral cleft lip, 112 (42.6%) were unilateral cleft lip and cleft palate, 12 (4.6%) were bilateral cleft lip, and 67 (25.5%) were bilateral cleft lip and cleft palate. Fifteen (5.7%) of the 263 fetuses and neonates were aneuploid. One (1.2%) with cleft lip (unilateral and bilateral combined) was aneuploid. Five (4.5%) of the fetuses and neonates with unilateral cleft lip and cleft palate were aneuploid compared with 9 (13.4%) of fetuses and neonates with bilateral cleft lip and cleft palate. In known or presumed euploid fetuses and neonates, additional sonographically occult major anatomic abnormalities occurred in 5 (7.0%) of 71 with unilateral cleft lip, 18 (16.8%) of 107 with unilateral cleft lip and cleft palate, 1 (8.3%) of 12 with bilateral cleft lip, and 12 (20.7%) of 58 with bilateral cleft lip and cleft palate. These abnormalities primarily involved the heart and the central nervous system. CONCLUSIONS: Amniocentesis for karyotype should be offered in all cases of cleft lip/cleft palate because of the risk of aneuploidy. Patients should be counseled that sonographically occult additional anatomic abnormalities might be present with all clefts.     

唇腭裂胎儿产前超声检查诊断分析

目的探讨胎儿唇腭裂超声表现及显示切面,提高唇腭裂的产前超声诊断率。方法选取我院经引产或产后证实的唇腭裂胎儿28例,对比产前超声检查与引产后或产后唇腭裂的类型。结果 28例经引产或产后证实的唇腭裂胎儿中,单纯唇裂5例,唇腭裂22例,单纯腭裂1例;产前检出23例,其中误诊裂口类型2例,漏诊5例。结论胎儿唇裂、原发腭裂、正中腭裂经连续性颜面部三正交切面诊断准确性较高;胎儿完全腭裂及唇裂伴继发腭裂需补充特殊切面;单纯性继发腭裂产前超声诊断仍有较大困难。     

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。     

Fetal cleft lip and palate detection by three-dimensional ultrasonography.

OBJECTIVES: To demonstrate a standardized approach for the evaluation of cleft lip and palate by three-dimensional (3D) ultrasonography. DESIGN: This was a retrospective study of seven fetuses with confirmed facial cleft anomalies. Post-natal findings were compared to a blinded review of 3D volume data from abnormal fetuses with seven other normal fetuses that were matched for gestational age. Upper lip integrity was examined by 3D multiplanar imaging. Sequential axial views were used to evaluate the maxillary tooth-bearing alveolar ridge contour and anterior tooth socket alignment. Alveolar ridge disruption suggested cleft palate. Premaxillary protrusion, either by multiplanar imaging or surface rendering, indicated bilateral cleft lip and palate. RESULTS: Post-natal findings confirmed bilateral cleft lip and palate (four cases), unilateral cleft lip and palate (one case), and unilateral cleft lip (two cases). Multiplanar review identified all three fetuses with unilateral cleft lip, three of four fetuses with bilateral cleft lip, one fetus with unilateral cleft palate, and three of four fetuses with bilateral cleft palate. Surface rendering correctly identified all cleft lips, with the exception of one fetus, who was thought to have a unilateral cleft lip and palate, despite the actual presence of a bilateral lesion. One cleft palate defect was directly visualized by 3D surface rendering. No false-positives occurred. CONCLUSION: Interactive review of standardized 3D multiplanar images allows one to evaluate labial defects, abnormalities of the maxillary tooth-bearing alveolar ridge, and presence of premaxillary protrusion for detecting cleft lip and palate anomalies. Surface rendering may increase diagnostic confidence for normal or abnormal studies. This technology provides an array of visualization tools that may improve the prenatal characterization of facial clefts, particularly of the palate.     

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.     

2008-2011年广东省珠海市围产儿唇腭裂监测流行病学特征分析

目的 了解广东省珠海市2008-2011年围产儿唇腭裂的流行病学特征。 方法 利用珠海市出生缺陷监测系统获得围产儿唇腭裂资料并进行统计分析。 结果 珠海市2008-2011年围产儿总唇腭裂222例,发病率为21.77/万,各年度发病率差异无统计学意义;不同性别、产妇各年龄组发病率差异无统计学意义,城镇组发病率高于农村组;40.50%唇腭裂患儿在围生期死亡。 结论 珠海市围产儿唇腭裂发病率水平相对稳定,发病率较高,应采取综合措施加强围产儿唇腭裂的三级预防。     

A study into weight gain in infants with cleft lip/palate

Faltering weight (or failure to thrive) in infants with cleft lip and palate has largely been attributed to early feeding difficulties. In recent years, the reorganisation of cleft lip and palate services in England and Wales into regional teams has seen the introduction of clinical nurse specialists, who provide early feeding management. The medical records of 187 infants with cleft lip and/or palate were reviewed. Records of their weight at birth and of primary lip and palate surgery were used to calculate levels of failure to thrive and these were compared to levels previously reported in the UK and to the general population. It was found that failure to thrive was linked to cleft type and the presence of other anomalies. Infants with isolated cleft lip had similar birth weights to the general population, while those with cleft lip and palate were smaller than average, and those with isolated cleft palate were significantly lighter (P = 0.002). Compared with records made before the introduction of regional services, this cohort showed an improvement in weight gain. It was concluded that feeding support provided by clinical nurse specialists can improve outcomes and, with their new knowledge of groups at particular risk of poor growth, can enable appropriate interventions to be prioritised.     

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。       

50例成年唇腭裂患者及其父母心理状况调查

【目的】研究50例唇腭裂患者及其父母的心理健康状况,为改善患者及其父母的心理健康状况提供依据。【方法】采用SCL-90症状自评量表对50名成年患者及30名正常青少年的心理健康状况进行评价。同时采用生活事件量表（life event scale,LES）对唇腭裂患者组父母和正常青少年组父母,以及唇腭裂患者组父亲与母亲间心理状态进行定性和定量分析。【结果】唇腭裂患者SCL-90总分、阳性项目数及抑郁、焦虑和人际关系诸因子分高于对照组,差异有显著性。并且患者父母生活事件总刺激量、负性事件刺激量均高于对照组（P〈0．05）。其中唇裂（CL）、腭裂（CP）、唇腭裂（CLP）三亚组患者及其父母之间的心理健康状况差异均无显著性。【结论】唇腭裂患者及其父母的心理健康状况较差,对唇腭裂患者临床治疗的同时,也要重视患者家庭成员的社会、心理等因素。     

胎儿唇腭裂畸形的超声诊断及临床分析

目的探讨胎儿正常唇腭部与唇腭裂畸形的超声检查方法、最佳检查时机及声像图特征，旨在提高产前B超对唇腭裂畸形的确诊率。方法对7242例孕16周至产前的孕妇行常规超声检查，发现唇腭裂畸形声像予测量记录，并追踪随访，引产或足月产后对照。结果产前确诊唇腭裂畸形12例13胎，有对照的共10例11胎，其中产前诊断唇裂，产后见唇腭裂2胎，与产前B超诊断完全符合8例9胎，准确率82％(9／11)。结论孕20～32周是超声检查胎儿唇腭裂畸形的最佳时机。熟练掌握以胎儿头面部横切和冠状切面为主的扫查方法，有助于快捷获取和正确识别唇腭裂声像图。唇裂时唇缘线至唇根部回声中断。牙槽突以及硬腭裂时，分别见双弧形串珠状强回声、弧形强回声带及其后马蹄形不均质中、强回声区的裂隙暗带。     

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。     

Axial ultrasonographic imaging of the fetal maxilla for accurate characterization of facial clefts.

The purpose of this study was to determine whether scanning of the fetal midface in the axial plane allows accurate characterization of facial clefts. During fetal anatomic survey, facial clefts were identified in six fetuses. The midface anatomy was evaluated with ultrasonography in the coronal and axial planes, and the clefts were characterized prospectively as unilateral or bilateral and as involving the lip alone or both the lip and the palate. The integrity of the upper lip was assessed in the coronal and axial planes. The continuity of the normal C-shaped curve of the tooth-bearing alveolar ridge and the anterior six tooth sockets was assessed in the axial plane. The prospective prenatal diagnosis was correlated with postnatal findings in all cases. The clefts where characterized prospectively as unilateral cleft lip (one case), unilateral cleft lip and cleft palate (four cases), and bilateral cleft lip and cleft palate (one case). The prenatal characterization was confirmed to be correct postnatally in all cases. Prenatal sonographic evaluation of the axial view of the tooth-bearing alveolar ridge of the maxilla allows accurate determination of whether a cleft is confined to the lip or involves both the lip and the palate.     

实时三维超声对胎儿唇腭裂的诊断价值

目的应用实时三维超声成像诊断胎儿唇腭裂,就其诊断价值与二维超声诊断进行比较探讨。方法应用esaote Mylab 90实时三维超声显像仪,三维容积探头和二维腹部探头,对2798例16～40周胎儿唇部进行观察。结果 2798例中,应用实时三维或二维超声能看到胎儿唇部者2644例,显示率为94.5%,看不清胎儿唇部者154例。二维显示率为84.6%(2367/2798),实时三维显示率为89.7%(2510/2798)。应用实时三维或二维超声共发现胎儿唇腭裂畸形11例,与引产或足月产后相符合。二维及实时三维超声产前均检出唇腭裂10例,漏诊1例,检出率90.9%(10/11)。结论实时三维超声在诊断胎儿唇裂中图像逼真直观,对二维图像具有重要的补充作用,二者结合诊断胎儿唇腭裂是更有效的方法。     

二维超声及三维超声多种成像技术在胎儿唇腭裂畸形诊断中的联合应用

目的研究二维超声及三维超声多种成像技术在胎儿唇腭裂畸形诊断中的图像特征。 方法选取2016年1月至2017年12月在南京医科大学附属苏州医院产科接受中孕期结构畸形筛查发现唇腭部异常的胎儿均行三维超声表面成像、断层成像（TUI）及自由解剖成像（OmniView模式）多种成像技术联合检查,并随访至出生后或引产后。结合产前超声检查图像,研究唇腭裂胎儿颜面部三维超声图像特征。 结果产前超声筛查的19 168例中孕期胎儿中检出唇腭部结构畸形36例（0.19%）。36例唇腭裂胎儿超声征象：单纯唇裂（CL）8例,二维、TUI及OmniView模式均检出胎儿唇裂;三维表面成像漏诊1例唇红裂。二维及三维成像技术均显示胎儿上唇连续性中断,但三维成像显示更直观。唇裂合并上牙槽突裂（CLA）11例,二维超声显示8例,三维表面成像、TUI均诊断9例,漏诊2例,OmniView技术诊断10例,漏诊1例,联合检查诊断10例,漏诊1例。主要超声征像：上唇及上牙槽突连续性中断,二维超声对于牙槽突裂显示较困难,TUI及OmniView可从多角度显示牙槽突裂。唇裂合并腭裂（CLP）17例,二维超声（诊断10例）、三维超声表面成像模式（诊断13例）、TUI（诊断15例）、OmniView模式（诊断16例）均未全部检出;而17例CLP经联合检查全部检出。超声征象为上唇、原发腭及继发腭的连续中断,断层成像及OmniView可从多角度显示原发腭及继发腭,优于二维超声对于原发腭及继发腭的显示。 结论产前二维超声及三维超声能清晰显示胎儿唇裂,但对于腭裂,三维超声多种成像模式图像优于二维超声,产前超声筛查联合三维多成像技术能清晰显示胎儿颜面部异常,减少唇腭裂的漏诊。     

Analysis of the candidate genes responsible for non-syndromic cleft lip and palate in Japanese people

In order to assess the association of alleles for candidate genes with non-syndromic cleft lip and palate, DNA samples from 43 Japanese patients were compared with those from 73 control subjects with respect to the genes encoding transforming growth factor alpha (TGFalpha), TGFbeta and gamma-aminobutyric acid type A receptor beta3 (GABRB3). The restriction fragment length polymorphisms of the 3'-non-coding region of the TGFalpha gene K-primer region were observed after digestion with NcoI and HinfI. Allele 4 was the most common among cases of cleft lip with or without cleft palate, whereas allele 2 was the most common among controls. A significant difference was found in this region between groups with cleft lip (with or without cleft palate) and controls (chi2=10.190; P=0.017). Three alleles of the TGFbeta2 gene were tested, and allele 2 was the most common in both cases and controls. The proportion of allele 2 in the case group was greater than that in the control group, showing a significant difference between cases of cleft lip (with or without cleft palate) and controls (chi(2)=19.208; P<0.0001). No significant differences in variants of TGFbeta3 or GABRB3 between case and control populations were observed. Thus it is concluded that TGF genes play a role in craniofacial development, and that alleles of TGFalpha or/and TGFbeta2 are associated with cleft lip and cleft palate in Japanese populations.     

先天性唇腭裂患儿手术前后的喂养护理

目的：研究先天性唇腭裂患儿手术前后的特殊喂养护理。方法：对３６例患儿分别采取母乳喂养、奶瓶喂养和汤匙喂养,并对喂养中容易出现的问题及时采取对策,预防并发症。结果：３６例患儿顺利渡过了手术前后的特别喂养阶段,患儿身高、体重增加。结论：针对患儿的特点,选择适合患儿的喂养方法是保证患儿手术前后喂养成功的关键。     

彩色多普勒超声诊断胎儿唇腭裂畸形

目的通过分析胎儿唇腭裂畸形的声像图特征及其相应的生理、病理学基础,提高彩色多普勒超声对胎儿唇腭裂的诊断率。方法采用彩色多普勒超声检查20周以上孕妇,最晚不宜超过28孕周,尤其有畸形胎儿家族史的孕妇,分析经分娩（包括引产、剖宫产）证实的23例胎儿唇腭裂的超声声像图表现。结果彩色多普勒超声诊断的敏感性高,声像图上,唇裂表现为上唇回声光带中断（单侧、双侧和正中）,双侧唇裂或伴腭裂时,正常鼻唇结构消失,鼻子、上唇回声不连续,呈三瓣状,鼻子塌陷,似兔唇。腭裂不易直接显示。结论彩色多普勒超声对胎儿唇腭裂畸形有很高的诊断价值。