Multiple congenital anomalies associated with infantile achalasia

Achalasia is rare in the pediatric age group, particularly in, the neonate and young infant. The symptoms are often nonspecific and may not even suggest a primary esophageal disorder. This is a report of two cases of achalasia seen in neonates, both of whom had other unusual and exceedingly uncommon congenital abnormalities.Presented at the meeting of the Society for Pediatric Radiology, 1978     

Sonographic findings of the umbilical cord: implications for the risk of fetal chromosomal anomalies.

In this review we summarize current knowledge on sonographic findings of the umbilical cord and the risk they impose for chromosomal abnormalities of the fetus. A Medline search of the literature was performed and the pertinent English-language literature was reviewed. Anatomical and Doppler abnormalities of the umbilical cord may be associated with an increased risk of chromosomal aberrations in the fetus. Therefore, level II prenatal sonography should also include a careful examination of the umbilical cord.     

产前超声诊断胎儿先天性心脏畸形与染色体异常的关系

目的 应用超声探讨胎儿先天性心脏畸形与染色体异常的关系.方法 回顾分析我院产前超声检查发现先天性心脏畸形,并行染色体检查的胎儿58例.结果 58例先天性心脏畸形胎儿中复杂畸形39例（67.2%）,心内畸形合并心外畸形26例（44.8% ）;染色体异常16例（27.6%）,其中18 -三体综合征9例,21 -三体综合征4例,13 -三体综合征2例,47,XX,＋8[16]／46,XX[44] 1例.结论 不同类型的胎儿先天性心脏畸形与染色体异常的关系不同;当产前超声发现胎儿先天性心脏畸形时,应仔细观察胎儿全身有无畸形及超声软标志,必要时行染色体检查以明确核型.     

Atrioventricular block detected in fetal life: associated anomalies and potential prognostic markers.

OBJECTIVES: To assess the spectrum of anomalies associated with fetal heart block and to identify possible prognostic markers. METHODS: Retrospective review of all cases of second- or third-degree heart block identified in two tertiary referral centers in Germany (Bonn and Lübeck) and one in the USA (Baltimore). RESULTS: Sixty fetuses with heart block were identified in the study period. Thirty-two had complex cardiac malformations, 31 of them associated with left isomerism. The outcomes of these fetuses were 22 terminations of pregnancy (TOP), three intrauterine fetal deaths (IUFD), three neonatal deaths (NND), two childhood deaths (CD) and there were two survivors. In 20 cases without complex cardiac malformations maternal antinuclear-antibodies were detected. Their outcomes were 2 TOP, 1 IUFD, 1 NND and 16 survived. The remaining eight cases had neither complex cardiac malformations nor associated maternal antibodies. Their outcomes were 1 TOP, 2 IUFD, 2 NND and 3 survived. After exclusion of terminated cases, hydrops as well as the presence of cardiac defects was significantly associated with non-survival (P < 0.01). The cardiothoracic circumference ratio was significantly higher in hydropic fetuses and significantly negatively correlated with survival in immune-mediated cases (P < 0.01). Atrial and ventricular frequencies and their evolution did not accurately predict fetal or neonatal outcome. Sympathomimetic treatment in seven cases was not associated with favorable fetal outcome in cases of hydrops or cardiac malformations. CONCLUSIONS: The most important marker predicting adverse outcome in cases of heart block is fetal hydrops, followed by the association with complex cardiac malformations. Cases without cardiac malformations have a significantly better prognosis, especially in the absence of severe cardiomegaly.     

Chromosomal anomalies in fetal congenital heart disease.

A series of 467 cases of congenital heart disease detected in prenatal life were analyzed to identify the forms of cardiac malformation associated with karyotypic defects and to calculate the incidence of chromosomal abnormalities associated with such malformations. Of these, 77 were proved to have chromosomal anomalies although not all were karyotyped.The results were analyzed in two ways. First, the whole series of 77 cases was examined in order to describe the form of congenital heart disease found in association as, although many cases were forms of heart disease known to be associated with chromosomal defects, several were unexpected. In many cases which proved positive, there were other abnormal findings on ultrasound, further suggesting a high likelihood of a chromosomal defect. Some cardiac defects, however, such as atrial isomerism or transposition of the great arteries, were not associated with trisomies.The second part of the study examined in detail the records of 124 cases of congenital heart disease seen in 1989, as these were more completely documented than the previous cases. No chromosomal anomaly was therefore thought to be missed. Of this group, 20 (16%) proved positive. This is a higher rate than would be expected in an unselected population of live births. The difference between prenatal and postnatal life can be accounted for by the increased rate of spontaneous fetal loss in those with chromosomal defects.We conclude that, because of the high rate of chromosomal anomaly, all continuing pregnancies where congenital heart disease has been found in the fetus should be karyotyped unless specific types of heart defect which are rarely associated are confidently defined.     

Unfused amnion and chorion after 14 weeks of gestation: associated fetal structural and chromosomal abnormalities.

OBJECTIVE: To assess possible associations between delayed chorioamniotic fusion after the end of the first trimester and fetal structural and/or chromosomal abnormalities. DESIGN: We prospectively studied 492 fetuses from high-risk pregnancies between 14 and 18 weeks of gestation by transabdominal ultrasonography. Of these, 60 (12%) had unfused amnion and chorion. RESULTS: No additional abnormalities were detected in 28/60 fetuses (47%). Karyotyping was performed in 27/28 cases, and one fetus had trisomy 13 (4%). Ten of 24 fetuses (42%) of this group attending a second mid-trimester scan after 18 weeks of gestation had abnormal sonographic findings not noted at the initial scan. Thirty-two of 60 (53%) fetuses had additional abnormalities at the initial scan: cystic hygroma (n = 12), increased nuchal translucency (n = 10) and other abnormalities (n = 10). Karyotyping revealed aneuploidy in 13 of 28 fetuses (46%) tested: trisomy 21 (n = 5), Turner's syndrome (n = 3), trisomy 18 (n = 3) and trisomy 13 (n = 2). Additional fetal abnormalities were detected only at the second scan after 18 weeks of gestation in three of eight fetuses (38%). CONCLUSIONS: These preliminary data suggest that the sonographic finding of unfused amnion and chorion after 14 weeks of gestation may be associated with fetal structural and/or chromosomal abnormalities.     

Three-dimensional ultrasound in the evaluation of fetal anomalies.

OBJECTIVES: To determine the additional information and clinical impact provided by three-dimensional ultrasound (3D US) imaging of fetal anomalies compared to conventional 2-dimensional ultrasound (2D US). MATERIALS AND METHODS: Sixty-three patients with 103 anomalies were scanned prospectively with both 2D and 3D US. Each anomaly was reviewed by one or more fetal imaging specialists to determine whether the 3D US data were advantageous, equivalent, or disadvantageous when compared with 2D US images. Clinical impact and pathologic or clinical outcome were determined in all cases. RESULTS: The 3D US images provided additional information in 53 anomalies (51%), were equivalent to 2D US images in 46 anomalies (45%), and were disadvantageous in four anomalies (4%). The 3D US was most helpful in evaluating fetuses with facial anomalies, hand and foot abnormalities and axial spine and neural tube defects. Planar images derived from 3D US volume data sets generally were more helpful for diagnostic purposes, whereas rendered 3D US images were more useful as a point of reference and were better appreciated by patients in understanding fetal abnormalities. Additional information provided by 3D US images impacted clinical management in 5% of patients. The 3D US images were disadvantageous in two fetuses with multiple anomalies and two with cardiac anomalies. CONCLUSION: The 3D US offered diagnostic advantages in about one-half of the selected cases studied and had effect on patient management in 5% of cases. This modality can be a powerful adjunctive tool to 2D US in providing a more comprehensible, 3D US impression of congenital anomalies. Thus, 3D US is currently most helpful as a targeted study complementing 2D US.     

Hepatobiliary anomalies associated with polysplenia syndrome

The report of a 29-year-old woman with polysplenia syndrome, Crohn's disease, and bilateral cataracts is presented. The patient was noted to have a right-sided stomach and small bowel, Crohn's ileitis, and a left-sided colon. Results of roentgenography of the chest and echocardiography were consistent with a diagnosis of hypoplasia of the inferior vena cava with azygos continuation. The patient underwent laparotomy with cholecystectomy, exploration of the common bile duct, and choledochoscopy for cholelithiasis, choledocholithiasis, and chronic cholecystitis. Laparotomy revealed a liver that had two lobes, each with the morphologic appearance of the left lobe. The gallbladder was centrally located. T-tube cholangiography revealed a quadruplication of the intrahepatic biliary ducts. To our knowledge, this patient is the only known adult with this syndrome in whom cholangiography demonstrated isomerism of the biliary tree. A review of the literature on this subject is given with emphasis on biliary anomalies.     

Early sonographic detection of recurrent fetal eye anomalies.

OBJECTIVE: To determine the possible association between congenital eye anomaly of a previous child in the family and current congenital eye anomaly. METHODS: An early transvaginal anomaly scan at 14-16 gestational weeks was used to diagnose fetal eye anomalies in five cases in which at least one previous child in the family had the same congenital eye anomaly. RESULTS: At least one cataract was detected in four of the five fetuses and bilateral anophthalmia in one. The congenital cataract in one case was part of multiple pterygium syndrome. Both of these extremely rare malformations are commonly associated with other fetal anomalies. CONCLUSION: Our data suggest that a detailed targeted ultrasound survey with a special focus on the orbital region should be offered at the time of genetic counseling to couples with children with congenital eye anomalies.     

房间隔膨出瘤及合并畸形52例临床报告

目的：探讨房间隔膨出瘤（IASA）合并畸形的诊断特征及治疗适应证。方法：32例IASA合并畸形的住院患者及20例孤立性IASA门诊随诊患者,经心电图（ECG）、胸片、体表超声（TTE）、食道超声（TEE）及心导管检查,选择外科开胸,内科介入及门诊随诊观察的IASA患者。结果：32例IASA合并畸形的住院患者,16例（50%）合并畸形行外科开胸手术治疗,其中7例合并多发性房间隔缺损（ASD）。16例（50%）IASA合并ASD行内科介入治疗,其中6例为多发性ASD。结论：IASA合并畸形最常见的为ASD,而ASD中多发性ASD较为常见,通过TTE及TEE准确诊断,选择内、外治疗适应证。     

Severe fetal cytomegalovirus infection associated with cerebellar hemorrhage.

Cytomegalovirus (CMV) is the most common cause of congenital infection worldwide. We report on a fatal fetal manifestation of primary maternal CMV infection including cerebellar hemorrhage and hydrops. The diagnosis was established by maternal serological tests, culture and polymerase chain reaction testing of amniotic fluid and fetal blood. The pregnancy was terminated. Postmortem examination confirmed the diagnosis.