Intracranial cystic lesions and polydactyly associated with acrocallosal syndrome: Sonographic findings in two cases

We describe two cases of intracranial cystic lesions associated with acrocallosal syndrome. These fetal anomalies were detected on antenatal sonography and confirmed postnatally. Imaging findings include corpus callosum agenesis with interhemispheric cysts and craniofacial anomalies associated with polydactyly. Identifying the above imaging features is of importance to plan management and provide supportive care that may be required.     

Prenatal sonographic diagnosis of Majewski syndrome

Majewski syndrome is an autosomal recessive disorder characterized by short ribs, polydactyly, short limbs, and a cleft lip. A 26-year-old woman with no family history of genetic diseases presented at 31 weeks' menstrual age with preterm labor and underwent prenatal sonography to screen for fetal anomalies. Sonography revealed a small thorax, markedly short ribs, micromelia, polydactyly, a cleft lip, dolichocephaly, and severe oligohydramnios. The other structures appeared normal. The most likely diagnosis was Majewski syndrome. Vaginal breech delivery was allowed to proceed. The 1,850-g male newborn died of respiratory failure shortly after birth. The postnatal appearance and radiographs confirmed the prenatal diagnosis.     

Fetal hydrometrocolpos with pre‐axial mirror polydactyly as a new variant of McKusick‐Kaufman syndrome

This report describes a variant of McKusick‐Kaufman syndrome presenting with a large fetal abdominal cyst of hydrometrocolpos at 37 weeks of gestation. The diagnosis was based on the ultrasound findings of a large homogeneous hypoechoic cyst (diameter of >10 cm) with incomplete septum, thickened wall, superiorly connecting to the dilated uterus, consistent with hydrometrocolpos. Additionally, pre‐axial mirror polydactyly of the left foot was suspected. Postnatal examination/work‐up confirmed the prenatal findings. This is the first report of prenatal diagnosis of hydrometrocolpos with complex polydactyly of mirror image pre‐axial duplications containing nine toes instead of six‐toe postaxial polydactyly.     

Fetal Aortic Arch Anomalies

Aortic arch anomalies are present in 1% to 2% of the general population and are commonly associated with congenital heart disease, chromosomal defects, and tracheaesophageal compression in postnatal life. The sonographically based detection of aortic arch anomalies lies in the 3‐vessel and trachea view. Although highly sensitive, this view alone does not allow identification of the aortic arch branching pattern, which prevents an accurate diagnosis. The systematic addition of a subclavian artery view as part of a standardized procedure may be useful in the differential diagnosis of these conditions. We describe the sonographic assessment of fetal aortic arch anomalies by combining 2 fetal transverse views: the 3‐vessel and trachea view and the subclavian artery view, which are included in the cardiovascular system sonographic evaluation protocol. We also review the sonographic findings and the clinical implications of fetal aortic arch anomalies.     

Fetal and genetic aspects of congenital heart disease

Fetal cardiology includes the assessment of the fetal heart for congenital heart disease (CHD) and arrhythmias, the management of affected fetuses, including parental counselling for the therapeutic options, the planning of the delivery and the postnatal care. This requires a close collaboration between obstetricians, neonatologists and pediatric cardiologists. Because of restricted financial sources extensive fetal echocardiographic assessment is reserved for pregnancies with increased risk for CHD, which includes a family history of CHD, suspicion of a cardiac or extracardiac fetal abnormalities at obstetric routine ultrasonography, fetal arrhythmias and chromosomal anomalies. Since most CHD occur in pregnancies without increased risk an ultrasound screening of the fetal heart during routine pregnancy ultrasound is recommended. Most forms of CHD can potentially be detected in utero, especially the severe ones with considerable fetal and postnatal morbidity and mortality. The prenatal diagnosis of a major cardiac malformation requires further assessments for extracardiac and chromosomal disorders. The deliveries of patients with major cardiac anomalies in a tertiary obstetric center close to a pediatric cardiac facility allows optimal perinatal and postnatal management. This may be of crucial importance for cardiac malformations which are arterial duct dependent postnatally. Many CHD have genetic causes. Well established is the association of CHD and the trisomies 13, 18 and 21, as well as the monosomy XO (Turner syndrome). During the last years more and more molecular genetic causes for CHD could be demonstrated. The most significant one is the microdeletion 22q11 syndrome (CATCH 22 syndrome), which is associated with different conotruncal anomalies. Also for various other congenital cardiac malformations and syndromes a genetic cause could be demonstrated. The search for genetic cofactors is important as it affects parental counselling and patient care.     

Diagnosis of short rib polydactyly syndrome type IV (Beemer–Langer syndrome) with cystic hygroma: A case report

Short rib polydactyly syndrome (SRPS) is a very rare congenital autosomal recessive inherited disease, classified into four subtypes. It has distinct imaging findings on prenatal sonography (US) and ancillary findings on both pre‐ and postnatal examinations may help classify individual cases into one of four subtypes. We report the US findings in a case of SRPS type IV (Beemer–Langer dysplasia) in a male fetus with multiple congenital anomalies, including cystic hygroma. The postnatal ultrasound, radiographic, and postmortem examinations helped to classify the SRPS as type IV. We believe this is the first documented case associating cystic hygroma and polydactyly. © 2009 Wiley Periodicals, Inc. J Clin Ultrasound 2009     

Outcome of pregnancy after prenatal diagnosis of umbilical vein varix.

Previous studies of umbilical vein varix diagnosed prenatally have been small, and the results have been contradictory. We wanted to determine whether prenatally diagnosed umbilical vein varix is associated with an increased risk of fetal anomalies or poor perinatal outcomes. We identified all cases of fetal intra-abdominal umbilical vein varix diagnosed on the basis of prenatal ultrasonography at Brigham and Women's Hospital between 1988 and 1998. Cases were reviewed to determine the presence of other sonographic findings as well as pregnancy and neonatal outcomes. We identified 25 cases and included those 23 for which follow-up was available. In 11 cases (48%), pregnancies and neonatal outcomes were normal, with full-term delivery, appropriate birth weight, and no evidence of anomalies. Three cases (13%) had preterm deliveries, and 1 had Kell isoimmunization requiring postnatal transfusion. In the remaining 8 cases (35%), structural anomalies were present. One fetus had a chromosomal abnormality (69,XXX). Prenatal diagnosis of fetal umbilical vein varix appears to be associated with a high rate of fetal anomalies. Detection of an umbilical vein varix should prompt a thorough examination of the fetus, including a fetal survey and echocardiogram. Isoimmunization should be ruled out, and consideration of karyotyping should be discussed if other anomalies are present.     

Prenatally Diagnosed Fetal Split‐Hand/Foot Malformations Often Accompany a Spectrum of Anomalies

The purpose of this series was to identify cases that appeared on sonography to be split‐hand/foot malformations (SHFMs) in fetuses and correlate the sonographic findings, including 2‐dimensional (2D) and 3‐dimensional (3D) sonography, to outcomes. A retrospective review was conducted of sonographic studies from 2002 to 2012 at 2 fetal care centers. Data were collected with respect to the morphologic characteristics of split‐hand/foot abnormalities, the utility of 3D sonography, associated anatomic abnormalities, family histories, gestational ages at diagnosis, fetal outcomes, karyotype, and autopsy results. Ten cases were identified with gestational ages ranging from 15 to 29 weeks. Three‐dimensional sonography was helpful in defining anatomy in 7 of 9 cases in which it was performed. Bilateral SHFMs were found in 7 cases (3 cases involving both hands and feet, 2 cases isolated to hands, and 2 cases isolated to feet), whereas 3 cases showed unilateral split‐hand malformations. Associated anatomic anomalies were present in 6 cases, and 4 of these had recognized syndromes, including 2 with abnormal karyotypes, specifically, del(22q11) and del(7q31). Two cases occurred in the context of a positive family history of SHFM. Three cases were delivered at term, and 7 cases were electively terminated. In conclusion, SHFMs often occur with a broad range of chromosomal abnormalities, single‐gene disorders, and other congenital anomalies. Some apparent SHFMs turn out to be other limb anomalies, such as complex syndactyly. Prenatal screening using 2D sonography can identify SHFMs, and 3D sonography often further clarifies them.     

Characteristics, associations and outcome of absent pulmonary valve syndrome in the fetus.

OBJECTIVES: To assess in a population of 21 fetuses diagnosed with absent pulmonary valve syndrome (APVS) the accuracy of prenatal diagnosis, the incidence of extracardiac and chromosomal anomalies and the perinatal outcome. METHODS: This was a retrospective observational study of 21 fetuses with a confirmed diagnosis of APVS. All of them underwent fetal echocardiography and a detailed anatomical scan. Karyotyping was performed in 20/21 cases, with fluorescent in-situ hybridization analysis to detect the 22q11 microdeletion performed in 16/21 cases. The following variables were retrieved from databases and evaluated: indication for referral, gestational age at diagnosis, presence of cardiomegaly, branch pulmonary dilatation, associated anomalies or intrauterine growth restriction, and fetal/neonatal outcome. Autopsy reports and postnatal surgical/medical files were available for confirmation in all cases. RESULTS: Prenatal diagnosis of APVS proved correct in all cases, with only three cases occurring not in association with tetralogy of Fallot. Additional cardiovascular anomalies were present in five cases (24%). Extracardiac anomalies were found in nine cases (42.8%), and were associated with chromosomal anomalies in five cases (24%). The 22q11 microdeletion was present in 4/16 cases (25%). Fetal/neonatal outcome was as follows: nine terminations of pregnancy, three intrauterine deaths, six postnatal deaths. The remaining three (14.3%) neonates were alive after surgery. Cardiomegaly and marked branch pulmonary dilatation were present in 16 and 15 cases, respectively, and were associated with bronchomalacia in virtually all cases. CONCLUSIONS: APVS can be reliably diagnosed and characterized prenatally. The association with major chromosomal anomalies or 22q11 microdeletion is consistent with previous findings. The relatively poor survival rate is due to the high rate of terminations, associated genetic anomalies and bronchomalacia. Bronchomalacia is present in the overwhelming majority of cases featuring cardiomegaly and marked branch pulmonary dilatation.     

Prenatal diagnosis of Jeune-like syndromes with two-dimensional and three-dimensional sonography

The purpose of this article is to describe the use of three-dimensional sonography as an adjuvant to two-dimensional sonography facilitating an earlier and more definitive diagnosis of Jeune and Jeune-like syndromes in the second trimester. We report two cases in which three-dimensional sonography facilitated the diagnosis of these malformations. A diagnosis of Jeune syndrome was made in our first case. Our second case was found to be short-rib polydactyly syndrome Type IV. Three-dimensional skeletal survey visualized short ribs, short limbs, the presence of normal scapulae, and the absence of polydactyly in both cases. Three-dimensional sonography can assist two-dimensional sonography in providing a more accurate display of skeletal anomalies, limb abnormalities, and facial features.     

How to Explore Fetal Sacral Agenesis Without Open Dysraphism: Key Prenatal Imaging and Clinical Implications

The estimated prevalence of fetal caudal dysgenesis is 1 per 100,000 births. The functional prognosis of sacral agenesis is dominated by the large spectrum of associated caudal malformations. Except for cases associated with hydrocephalus secondary to open spinal dysraphism or chromosomal anomalies, association with mental deficiency is rare. We propose a systematic prenatal approach to cases of fetal sacral agenesis based on 9 etiologic items: clinical context, type of sacral dysgenesis, associated spinal cord malformations, mobility of lower limbs, investigation of the presacral region, analysis of the gastrointestinal tract, analysis of the genitourinary tract, associated vertebral defects, and cytogenetic analysis.     

Characteristics, associations and outcome of partial agenesis of the corpus callosum in the fetus.

OBJECTIVES: To report, in a population of fetuses diagnosed with partial agenesis of the corpus callosum (PACC), the sonographic characterization, incidence of cerebral, extracerebral and chromosomal anomalies, and outcome. In addition, in some of our cases a comparison was made between findings on ultrasound and fetal magnetic resonance imaging (MRI). METHODS: This was a retrospective study of all cases of PACC seen at two referral centers for prenatal diagnosis of congenital anomalies over a 10-year period. The following variables were assessed: indication for referral, additional cerebral and extracerebral malformations, chromosomal abnormalities, and pregnancy and fetal/neonatal outcome. RESULTS: Among 54 cases of fetal agenesis of the corpus callosum detected in the referral centers during the observation period, PACC was diagnosed at prenatal sonography in 20 cases and confirmed at pre/postnatal MRI and necropsy examinations in 19 cases (35%). These 19 constituted the study group. The diagnosis was made in the sagittal planes and in 12 cases it was made prior to 24 weeks. In most cases the indication for referral was the presence of indirect signs of callosal anomalies, such as colpocephaly. In 10 cases PACC occurred in association with other anomalies and in nine it was isolated. MRI was particularly useful for demonstrating some additional cerebral anomalies such as late sulcation, migrational pathological conditions and heterotopia. Regarding pregnancy outcome, of those diagnosed before 24 weeks which had associated anomalies, all except two were terminated. Of the nine cases with isolated PACC, all were liveborn. Follow-up was available in eight, and two of these (25%) showed evidence of significant developmental delay. In our series the outcome of isolated PACC was not better than that of complete agenesis of the corpus callosum reported in other series. CONCLUSIONS: PACC can be diagnosed reliably and characterized in prenatal life. The sonographic sign present in most cases is colpocephaly. Prenatal MRI can be performed to confirm the diagnosis. It is particularly useful to demonstrate some additional cerebral anomalies such as late sulcation, migrational pathological conditions and heterotopia. The relatively poor survival rate is due to the high rate of terminations and associated major anomalies.     

羊水量正常时胎儿肾发育不良的超声诊断及临床意义

目的 探讨产前超声检查对于羊水量正常时胎儿肾发育不良的诊断价值和临床意义.方法 于孕中晚期对羊水量正常胎儿中发现的单侧或双侧肾超声表现异常(包括大小、回声、形态异常,出现囊肿等)病例进行系统二维超声检查、孕期及生后随访观察、病理学检查等,并进行总结分析.仅有肾盂增宽的胎儿不包括在本组研究中.结果 发现羊水量正常但单侧或双侧肾发育不良的胎儿11例.其中单侧多囊性肾发育不良5例,4例不合并其他异常,1例合并同侧手缺如;单侧肾缺如2例,其中1例不合并其他畸形,另1例合并多发畸形包括脑积水、骶尾部脊柱裂、同侧桡骨缺失及单脐动脉,符合VACTERL综合征;盆腔.肾1例,马蹄肾1例,生后超声证实;常染色体显性遗传多囊肾1例,胎儿一侧肾可见多发囊肿,合并心脏横纹肌瘤,孕妇为双侧多囊肾;双侧肾发育不良1例,产前超声表现为双侧肾回声增强.结论 单侧多囊性肾发育不良是羊水量正常时产前超声最常检出的胎儿肾发育不良性疾病.根据产前超声表现并结合家族史,能在大多数胎儿肾发育不良病例中进行病因学诊断并帮助判断预后.     

Utility of a screening examination of the fetal extremities during obstetrical sonography

The hands, feet, and long bones of the extremities were visualized and an image of the femur was obtained as part of a brief fetal anatomy survey during approximately 6,700 low-risk and high-risk obstetric sonograms. This examination identified four fetuses with five instances of isolated extremity abnormalities and nine fetuses with ten instances of generalized extremity abnormalities. Isolated abnormalities included malformation or complete or partial absence of an extremity. Generalized abnormalities included fused hands and feet, polydactyly, phocomelia, hyperechoic muscle with contractures, and several varieties of dwarfism. Most fetuses had other structural abnormalities as well and two had an abnormal family history. The sensitivity of the fetal anatomy survey for the detection of extremity malformations would not have been changed if the routine femur measurement had been retained but the systematic visualization of the fetal extremities had been done only in selected fetuses with a malformation of any kind or an abnormal family history.     

Sonographic findings and fetal chromosomal studies undertaken prenatally by fetal blood sampling using cordocentesis.

Prenatal karyotyping was carried out on 206 pregnancies with sonographic abnormalities, including fetal malformations, growth retardation and disorders of the amniotic fluid volume. Overall, chromosomal aberrations were detected in 37 cases (18.0%), but the frequency of chromosomal aberrations was 8.2% in fetuses with a single anomaly and 52.7% in fetuses with multiple anomalies. The chromosomal risk was very high in malformations associated with growth retardation (81.8%) or with both growth retardation and disorders of the amniotic fluid volume (82.4%). High rates of chromosomal aberrations were observed in cases of heart anomalies, diaphragmatic hernia, urinary tract obstruction, hydrocephalus, intestinal atresia, abdominal wall defect and fetal effusion/hydrops. In fetuses at high risk of chromosomal aberrations, cordocentesis for rapid karyotyping is justified in the second or third trimester.     

Fetal prognosis in varix of the intrafetal umbilical vein.

To assess the clinical significance of varix of the intraabdominal portion of the umbilical vein, we reviewed 10 cases diagnosed prenatally by ultrasonography at a median gestational age of 27 weeks. A comprehensive anatomic survey and serial follow-up scans were performed in each case. All three fetuses with associated anomalies died in utero, and prenatal karyotyping revealed that two of them had a chromosomal abnormality. In six of the seven cases with structurally normal fetuses the pregnancy proceeded uneventfully, and no neonatal complications were attributed to the umbilical vein varix. Our experience and the review of the literature revealed 42 cases with information on fetal outcome. Overall, 24% of the fetuses died, 12% had a chromosomal abnormality, and 5% developed hydrops. We conclude that fetuses with varix of the intrafetal umbilical vein should be considered at risk for poor outcome. However, if no other anomalies are present, the prognosis is generally good.     

Prenatal diagnosis of fetal chest lymphangioma.

OBJECTIVE: Prenatally diagnosed cystic nuchal hygroma is often associated with chromosomal anomalies and hydrops fetalis. Chest lymphangioma diagnosed later in gestation appears to be a completely different disease, with a low incidence of chromosomal and structural anomalies. METHODS: Two chest cavernous lymphangiomas of the fetus are presented. The sonographic images, chromosomal analyses, and macroscopic and microscopic evaluations are described. RESULTS: Fetal chest cavernous lymphangiomas were identified at 15 and 22 weeks' gestation. In the first case, the couple decided to interrupt gestation. In the second case, prenatal sonography showed a multilocular, cystic lymphangioma external to the chest wall with no flow on Doppler sonography. Follow-up sonography revealed normal fetal growth and slow enlargement of the cystic mass surrounding the left chest cavity. The neonate was delivered without complications and was treated surgically. CONCLUSIONS: The chest lymphangioma appears to be a lesion usually not associated with other congenital abnormalities. The prenatal diagnosis of chest wall lymphangioma is relatively easy sonographically, and the treatment of choice is surgical excision. The outcome is relatively favorable, with a low incidence of chromosomal and structural anomalies.     

胎儿小颌畸形的产前超声诊断

目的探讨胎儿小颌畸形的超声特征及临床意义，提高此类畸形的产前检出率。方法对我院常规产前检查或因外院超声发现其他异常来我科超声检查的13500例胎儿进行颜面部冠状、横切及矢状切面扫查，通过正中矢状切面和冠状切面主观判断是否存在小颌畸形，再多次测量下颌骨前后径并与双顶径比较，对因其他畸形引产的2例小颌畸形亦行模拟宫内超声检查。结果产前产后共诊断15例胎儿小颌畸形，所有小颌畸形在胎儿颜面部正中矢状切面及冠状切面显示胎儿下颌短小后缩，上下唇不能闭合，下唇较上唇更靠后，下颌骨前后径明显小于1／2双顶径，13例于产前获得小颌畸形的明确诊断，所有产前诊断病例均经引产证实。结论产前二维超声能诊断胎儿小颌畸形，正中矢状切面是诊断胎儿小颌畸形的最佳切面，颜面部冠状切面亦有重要作用。由于小颌畸形可能是染色体异常和一些畸形综合征的一个线索和标志，因此诊断下颌畸形具有重要临床意义。     

Correlation of antenatal ultrasonography and pathological examinations in 153 malformed fetuses

Findings in 153 abnormal fetuses diagnosed by antenatal ultrasound and subsequently examined by a pediatric pathologist were reviewed. The primary diagnoses in the 153 cases were 67 nervous system anomalies, 19 gastrointestinal system anomalies, 18 genitourinary system anomalies, 13 chromosomal abnormalities, 10 skeletal system amonalies, and 26 other abnormalities. Forty-six percent of the total number had multiple abnormalities. In 67 cases (44%), autopsy showed further anomalies or altered the ultrasonographic diagnosis. However, in only 36 (25%) were there autopsy findings that altered management. Errors in ultrasound diagnosis were most commonly associated with the presence of multiple anomalies and oligohydramnios. Expert pathological examination remains an essential tool in the management of fetal anomaly. © 1993 John Wiley & Sons, Inc.     

Ductus venosus blood flow resistance and congenital heart defects in the second trimester

PURPOSE: To study the association between fetal cardiac defects and the presence of abnormal blood flow resistance of the ductus venosus during the second trimester of pregnancy. METHODS: This retrospective case-control study included 72 pregnancies with fetal cardiac anomalies and 267 normal pregnancies. In fetuses with cardiac anomalies, Doppler velocimetry resistances of the ductus venosus were serially determined prior to birth. The Doppler velocimetry resistances obtained from fetuses with cardiac anomalies were in turn compared with median values derived from 267 normal pregnancies to compensate for biometric bias due to gestational age. RESULTS: Among the 72 pregnancies with fetal cardiac anomalies, 26 fetuses showed isolated congenital heart disease (CHD) without nonimmune fetal hydrops (NIFH) (group A), 10 fetuses showed isolated CHD with severe heart defects, including atrioventricular valve insufficiency and consecutive cardiogenic NIHF (group B), and 36 fetuses showed chromosomal abnormalities, nonchromosomal extracardiac malformations, noncardiogenic NIHF, and fetal growth restriction summarized as nonisolated CHD (group C). Based on the pulsatility index for the vein of the ductus venosus, the area under the receiver operating characteristic (ROC) curves was 0.71, 0.73, and 0.86 for groups A, B, and C, respectively. CONCLUSION: In the 36 fetuses from group C, increased pulsatility index for vein of the ductus venosus (DVPIV) yielded a significant area under the ROC curve (0.86) with a sensitivity of 0.78 and a specificity of 0.78. Increased DVPIVs during the second trimester of pregnancy are highly correlated with fetal cardiac anomalies associated with chromosomal and extracardiac anomalies.