Prevalence of aneuploidy and additional anatomic abnormalities in fetuses with open spina bifida: population based study in Utah.

Data were used to determine the population prevalence of aneuploidy and additional anatomic abnormalities in fetuses with open spina bifida. The ability of sonography to predict aneuploidy and identify additional anatomic abnormalities in euploid fetuses was assessed. All cases of spina bifida occurring in the state of Utah from 1995 through 1997 were reviewed using Utah Birth Defect Network data, including stillborn, liveborn, and terminated cases. Chromosomes were known in 45 of 51 cases of open spina bifida. Of the 45 fetuses, 6 (13%) were aneuploid. Major anatomic abnormalities were present in four of six (67%) cases, and two of six (33%) cases had additional anomalies that could be missed sonographically. Of 39 euploid fetuses, 12 (31%) had additional abnormalities, but only half likely would be detected sonographically. Our 4% risk of aneuploidy in sonographically isolated spina bifida is substantially higher than the risk associated with advanced maternal age (0.37%).     

Fetal cleft lip and palate: sonographic diagnosis, chromosomal abnormalities, associated anomalies and postnatal outcome in 70 fetuses.

OBJECTIVE: The aim of this study was to determine the relationship between facial clefts, associated malformations and chromosomal abnormalities. STUDY DESIGN: Sonograms of 70 fetuses with cleft lip with or without cleft palate were prospectively and retrospectively evaluated in our tertiary referral center for the nature of the cleft lip or palate and for the nature of the associated anomalies. Additionally, karyotyping was performed in 63 of the 70 patients (90%). RESULTS: The frequency of additional anomalies and the mortality rate in this selected population varied with the type of cleft. None of the fetuses presenting an isolated cleft lip had additional anomalies and all survived. All fetuses presenting a median facial cleft had concurrent anomalies (particularly of the central nervous system (90%)) and a fatal outcome. Associated defects were more frequent in fetuses with bilateral clefts (72%) than in those with unilateral clefts (48%). Fetuses with a unilateral cleft lip with or without cleft palate had a better survival rate (52%) than those with a bilateral cleft lip with or without cleft palate (35%). The frequency and type of chromosomal abnormalities varied with the type of cleft. The highest rate of chromosomal abnormalities was found in fetuses with median clefts (82%). CONCLUSIONS: Although no conclusions regarding the prevalence of chromosomal or other anomalies in patients with a cleft lip with or without cleft palate in the general population could be drawn, the study revealed a strong relationship between the type of facial cleft, associated malformations, chromosomal abnormalities and fetal outcome.     

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.     

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.     

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。     

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.     

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。     

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。     

Real-time magnetic resonance imaging aids prenatal diagnosis of isolated cleft palate.

OBJECTIVE: Cleft of the secondary palate without cleft lip is difficult to visualize sonographically. This study was performed to assess the utility of sonography, standard magnetic resonance (MR) imaging, and real-time MR imaging in the diagnosis of isolated cleft palate. METHODS: We prospectively assessed 5 fetuses at risk for isolated cleft palate on the basis of family history, micrognathia, or both, using sonography and standard and real-time single-shot fast spin echo MR sequences. Written informed consent was obtained under our Institutional Review Board-approved Health Insurance Portability and Accountability Act-compliant protocol. Images were assessed for confidence in a diagnosis of cleft or normal palate. Prenatal and postnatal diagnoses were compared. RESULTS: In 3 fetuses, micrognathia was visualized by sonography and MR imaging with standard and real-time sequences. One fetus at 19 weeks had a wide cleft of the entire secondary palate, and another fetus at 33 weeks had a cleft of the soft palate; these defects were seen only with real-time MR imaging. One 35-week gestational age fetus had a cleft soft palate that was visualized on standard and real-time MR imaging. Two fetuses with no abnormalities had the normal midline secondary palate seen only on real-time MR imaging. In all fetuses, real-time images were helpful in assessing the secondary palate because the entire midline naso-oropharynx could be visualized. CONCLUSIONS: Real-time MR imaging allows for rapid assessment of the midline structures, providing accurate diagnosis of isolated cleft palate.     

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。     

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。     

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.     

Prenatal ultrasonography and the diagnosis of fetal cleft lip.

OBJECTIVE: To determine the efficacy of obstetric ultrasonography in the detection of fetal cleft lip. METHODS: The study population included all women who had a fetal anatomic survey with adequate visualization of the face and who gave birth at Brigham and Women's Hospital between January 1, 1990, and January 31, 2000. All neonates born with cleft lip were identified from the Brigham and Women's Active Malformation Surveillance Program. Confirmation of the anatomic defect was obtained from the pediatric record or from the pathologic report if the pregnancy was terminated or ended in miscarriage. Cases of isolated cleft palate were excluded. An ultrasonography database was used to identify all cases of cleft lip diagnosed before delivery. Maternal information regarding the pregnancy was abstracted from the medical record. Statistical significance was determined using the chi2 statistic for categorical variables and the t test for continuous variables. RESULTS: A total of 56 confirmed cases of cleft lip were identified in the study population. Overall, 73% of the cases (41 of 56) were identified antenatally. Additional fetal anomalies were present in 54% of the cases (30 of 56). A comparison between those cases that were detected and those in which the diagnosis was missed showed that there was a significantly lower detection rate if the ultrasonography was performed before 20 weeks (12 [57%] of 21 versus 29 [83%] of 35; P = .035). There was no difference between the 2 groups in terms of maternal age or weight. Maternal parity, prior maternal abdominal surgery, the presence of a multiple gestation, or coexisting fetal anomalies did not significantly affect the detection rate. There was no difference in detection rate in the first half of the study period (1990-1995; 23 [72%] of 32) compared with the second half (1996-2000; 18 [76%] of 24; P = .79). CONCLUSIONS: In this cohort of women, the rate of detection of fetal cleft lip was significantly lower when the anatomic survey was performed before 20 weeks' gestation. This difference could not be accounted for by such variables as prior maternal abdominal surgery, coexisting fetal anomalies, or improvements in ultrasonographic detection with time. We recommend that the anatomic survey for fetuses at high risk for this condition be performed after 20 weeks' gestation.     

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。     

Prenatal diagnosis of cleft palate by three-dimensional ultrasound

Prenatal diagnosis of cleft palate is very important to prenatal consultation and management after birth. To examine if three-dimensional (3-D) ultrasound (US) is an accurate diagnostic method for clinical use, we analyzed our experience in detecting cleft palate by 3-D US. From June 1996 to January 2000, 21 fetuses with facial clefts were scanned by 2-D US, as well as by 3-D US. The coronal and oblique planes were reconstructed by 3-D US to detect the cleft palate. In addition, level II US was performed to find any possibly associated anomalies. All the scans were recorded on optic disks for final analysis. In our study, the gestational age when prenatal diagnosis was made by US initially was between 20 and 34 weeks. The accuracy for prenatal diagnosis of cleft lip with or without cleft palate by 3-D US was 100%, which was superior to that by 2-D US (p < 0.05). In addition, we proposed a novel method to evaluate the cleft palate systemically by 3-D US. In conclusion, from our study, fetuses with cleft lip combined with or without cleft palate can be easily differentiated by 3-D US. The reconstruction of coronal and oblique planes by 3-D US is a powerful tool for detecting cleft palate.     

胎儿唇腭裂畸形的产前超声诊断现状

胎儿唇腭裂是最常见的颜面部畸形,且与妊娠结局,附加结构畸形及染色体异常均明显相关,然而产前诊断困难.超声是最常用的检测手段,通过胎儿标本实验及胚胎发育研究,使用二维超声的冠状切面和轴向切面及三维超声重建可诊断唇裂及前腭裂,对于继发腭裂,主要是寻找间接征象,直接显像困难,因此尚不能在宫内作出诊断.     

Craniofacial variability index determined by three-dimensional ultrasound in isolated vs. syndromal fetal cleft lip/palate.

OBJECTIVE: This study was undertaken to employ craniofacial pattern profile analysis in fetal facial clefts and to evaluate the craniofacial variability index (CVI) in distinguishing between isolated and syndromal clefts. METHODS: Three-dimensional (3D) sonographic assessment of 16 different fetal craniofacial measurements was performed in each of eight pregnancies complicated by an isolated facial cleft and seven pregnancies with a syndromal cleft. The measurements covered various aspects of facial width, depth and height. Measured values were compared to gestational age-specific normal values for calculation of Z-scores and the CVI. The number of abnormal Z-scores, i.e. < - 2 or > + 2, found among the measured values and the CVI in the group of isolated facial clefts were compared to those in the group with syndromal clefts. RESULTS: The CVI could be calculated in 14 of 15 fetuses (93%). More abnormal Z-scores and a higher mean CVI were found in the group with more severe (bilateral) facial clefts. Most abnormal values were found in the facial width measurements. Syndromal cleft lip/palate was associated with significantly more abnormal Z-scores and a higher mean CVI than isolated cleft lip/palate (P < 0.05). CONCLUSION: Craniofacial variability index may be a valuable tool for distinguishing between isolated and syndromal fetal cleft lip/palate.     

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。     

二维超声诊断胎儿唇裂的探讨

目的探讨二维超声产前诊断胎儿唇裂的价值。方法应用二维超声对2457例中、晚期孕妇的胎儿行颜面部检查。结果产前诊断胎儿唇裂5例,均经分娩证实,唇裂检出率100％。结论二维超声是筛选及诊断胎儿唇裂的重要手段。