Value of antenatal echocardiography in high risk patients to diagnose congenital cardiac defects in fetus

Results of fetal echocardiography in 1062 high risk pregnant patients are described. It was performed before 28 weeks of gestation in 770 cases. These were 38 abnormal scans (3.6%). A fetal arrhythmia was diagnosed in 14 cases and structural abnormality of the heart in 24. Complete atrioventricular block was commonest (n=12), structural heart disease associated in two of these cases. Other lesions identified were atrioventricular septal defect (n=5), hypoplastic left heart syndrome (n=4), ventricular septal defect (n=4), Ebstein’s anomaly (n=3), coarctation of aorta (n=2) and others (n=9). Postnatal confirmatory echocardiography is available in a total of 993 babies including 36 of 38 abnormal cases. There were eleven neonatal deaths amongst babies with abnormal scans. Errors in interpretation were observed in six instances. An anomaly was missed in five cases; in two of these, the main cardiac malformation was picked up but secondary lesions were missed. In one case, a false positive diagnosis of atrial septal defect was made. These errors did not influence the management of the pregnancy. Fetal echocardiography is a very sensitive (91.6%) and specific (99.9%) tool for antenatal diagnosis of congenital heart disease in high risk pregnancies. The information so obtained helps in guiding the optimal obstetric and neonatal management of these cases.     

Longitudinal findings from a Norwegian case–cohort study on internalizing problems in children with congenital heart defects

Aim: To examine the association of the severity of congenital heart defects (CHDs) with internalizing problems in 18‐month‐olds and to explore the extent to which the internalizing problems are influenced by maternal distress and emotional reactivity in the child at age 6 months. Methods: We linked prospective data from the Norwegian Mother and Child Cohort Study, conducted by the Norwegian Institute of Public Health, with a nationwide CHD registry and identified 198 18‐month‐olds with CHDs in a cohort of 47 692 toddlers. Maternal reports on the children’s emotional reactivity at age 6 months, the children’s internalizing problems (anxiety, sleep problems, emotional reactivity) at age 18 months and maternal distress were assessed by questionnaires. Results: We found an association at age 18 months between the severity of the CHD and anxiety but not sleep problems or emotional reactivity. Children with severe but not with mild or moderate CHDs were twice as likely to experience the symptoms of anxiety compared with controls. These symptoms are not merely sequelae of earlier psychological reactions or concurrent maternal distress. Conclusion: Should these findings be replicated, future studies ought to investigate the mechanisms leading to elevated anxiety in toddlers with CHDs. In addition, clinical interventions should address the child’s anxiety as well as the interaction between the parents and the child.     

Temporal variability in birth prevalence of congenital heart defects as recorded by a general birth defects registry

OBJECTIVE: Our aim was to examine the temporal variability in congenital heart defect (CHD) birth prevalence from 1980 to 2000 in Emilia-Romagna, Italy. METHODS: The study population consisted of all infants, surveyed by the Emilia-Romagna birth defects registry (Indagine Malformazioni conpenite in Emilia-Romagna [IMER]), who were affected by CHDs. A simplified classification into "simple" and "complex " CHD was adopted. A comparison with another epidemiologic study using different methodology in the same area was performed. RESULTS: From 1980 to 2000, IMER ascertained 2442 live births with CHD of 480,793 infants born, with an average CHD birth prevalence of 5.1% (Range, 3.1% to 7.5%). A significant increase in prevalence of simple CHD during the second decade of the study was demonstrated because of an increased recognition of "minor" cardiac lesions among the simple CHD. The birth prevalence of complex CHD remained stable. CONCLUSIONS: The apparent increase in live births with CHD results mainly from the current widespread availability of color Doppler echocardiography, which allows the early detection of the "minor" cardiac defects. Other differences are the result of the sources of ascertainment, diagnostic criteria, system of classification, and especially the age limit for enrolling infants with suspected CHD.     

MRI技术在胎儿先天性心脏病诊断中的应用

先天性心脏病是造成新生儿死亡的主要原因之一.在产前对胎儿先天性心脏病进行诊断、评估预后是目前围生医学发展的重要内容.胎儿心脏彩超对于孕中期胎儿先天性心脏病的诊断具有相对较高的灵敏度,是胎儿先天性心脏畸形诊断的金标准.胎儿心脏核磁共振技术在过去十年内发展迅速,其视野大、可重复性好等优点在某些情况下可以弥补胎儿心脏超声的不足,但其技术上的问题也局限了其在临床上的应用,目前被认为是胎儿先天性心脏病的二线诊断方法.该文就胎儿心脏核磁共振技术在胎儿先天性心脏病诊断中应用的方法、优势以及局限性进行综述.     

Pulse oximetry screening as a complementary strategy to detect critical congenital heart defects

Objective: To compare strategies with and without first-day of life pulse oximetry screening to detect critical congenital heart defects (CCHDs).
Study design: Population based study including all live born infants in Norway in 2005 and 2006 (n = 116 057). Postductal (foot) arterial oxygen saturation (SpO₂) was measured in apparently healthy newborns after transferral to the nursery, with SpO₂ < 95% as cut-off point. Out of 57 959 live births in the hospitals performing pulse oximetry screening, 50 008 (86%) were screened.
Results: A total of 136 CCHDs (1.2 per 1000) were diagnosed, 38 (28%) of these prenatally. Of the CCHDs detected after birth, 44/50 (88%) were detected before discharge in the population offered pulse oximetry screening (25 by pulse oximetry), compared to 37/48 (77%) in the non-screened population (p = 0.15). Median times for diagnosing CCHDs in-hospital before discharge were 6 and 16 h after birth respectively (p < 0.0001). In the screened population 6/50 (12%) CCHDs were missed and recognized after discharge because of symptoms. Two of the six missed cases failed the pulse oximetry screening, but were overlooked (echocardiography not performed before discharge). If these cases had been recognized, 4/50 (8%) would have been missed compared to 11/48 (23%) in the non-screened population (p = 0.05). Of the cases missed, 14/17 (82%) had left-sided obstructive lesions.
Conclusion: First-day of life pulse oximetry screening provides early in-hospital detection of CCHDs and may reduce the number missed and diagnosed after discharge.     

Limb-body wall complex: a compound anomaly pattern in body-wall defects

 Our presentation of four cases demonstrates the essential features of limb-body wall complex (LBWC), representing a compound anomaly pattern in body-wall defects. The diagnosis of this entity is based on two of the three following characteristics: (1) exencephaly/encephalocele and facial clefts; (2) thoraco- and/or abdominoschisis; and (3) limb defects. A definite association with internal anomalies and severe kyphoscoliosis makes a more distinct concept of the pathogenesis reasonable. Limb-body wall malformations result from a malfunction of the ectodermal placodes involving the early embryonic folding process. The poor prognosis of LBWC calls for early antenatal diagnosis. Accepted: 14 April 2000     

Extracardiac birth defects in children with congenital heart defects

Objective

To assess the proportion and pattern of extracardiac birth defects in children with congenital heart defects referred to a tertiary care institute.

Methods

Cross-sectional observational study from January 2010 to June 2011.

Results

Out of 560 children with congenital heart defects, 98 (17.5%) had extracardiac birth defects. Fifty-six had multiple congenital defects; 36 were syndromic cases and 6 had laterality defects. A total of 386 extracardiac birth defects (103 major and 283 minor) were documented, with craniofacial and skeletal birth defects being the commonest.

Conclusion

Extracardiac birth defects are common in children with congenital heart defects.     

微型骨锚在婴幼儿先天性垂直距骨症治疗中的应用

目的 应用微型骨锚重建转移的胫骨前肌止点矫形垂直距骨,探讨此法对降低婴幼儿先天性垂直距骨症术后早期复发率和距骨坏死率的临床价值.方法 自2006年2月至2008年3月,应用肌力平衡理论在Kumar手术方法的基础上,将胫前肌止点后移微型骨锚固定一次性治疗婴幼儿先天性垂直距骨症7例9足,平均手术年龄18个月,术后长腿管型石膏固定,12周后拔除克氏针, 更换小腿管形石膏继续固定6周.结果 平均随访时间术后24个月,7例9足先天性垂直距骨症患儿, 足外观良好,X线片检查无复发及距骨坏死,远期效果待观察.结论 应用微型骨锚重建转移的胫骨前肌止点矫形垂直距骨治疗婴幼儿先天性垂直距骨症,能进一步降低一次手术的早期复发率和距骨坏死率.     

Additional congenital defects in anorectal malformations

From 1974 until 1995 a total of 264 (141 , 123 ) patients born with an anorectal malformation (ARM) were referred to the University Hospital Nijmegen in the Netherlands. All additional congenital defects (ACDs) were registered. Special attention was paid to whether the ACDs take part in associations, syndromes, or sequences. One or more ACDs were observed in 67% of the patients. In decreasing order the defects concerned the uro-genital tract (43%), skeleton (38%), gastrointestinal tract (24%), circulation (21%), extremities (16%), face (16%), central nervous system (15%), respiratory tract (5%), and remaining defects (5%). Associations were observed in 49% of the patients, mostly (in 44%) the Vertebral, Anorectal, Cardial, Tracheo-Esophageal, Renal and Limb association. In 5% of the patients syndromes were recognized. Sequences were seen in 2% of the patients. Remarkable is the combination of trisomy 21 and ARM without a fistula. The combination of ARM and the Zellweger syndrome has not been reported before.Conclusion Almost all combinations of ARM and ACDs can be classified as an association, syndrome or sequence. ARM-causing agents affect males and females in equal numbers but lead to different expression in the sexes. The origin of the Omphalocele, Extrophia of the bladder, Imperforate anus, Sacral anomalies complex probably differs from that of other forms of ARM.     

Delivery room emergencies in critical congenital heart diseases

Transition from fetal to postnatal life is a complex process. Even in the absence of congenital heart disease, about 4–10% of newborns require some form of assistance in the delivery room. Neonates with complex congenital heart disease should be expected to require significant intervention and thus the resuscitation team must be well prepared for such a delivery. Prenatal assessment including fetal and maternal health in general and detailed information on fetal heart structure, function and hemodynamics in particular are crucial for planning the delivery and resuscitation. In addition, understanding the impact of cardiac structural anomaly and associated altered blood flow on early postnatal transition is essential for success of resuscitation in the delivery room. In this article, we will briefly review transitional circulation focusing on altered hemodynamics of the complex congenital heart diseases and then discuss the process of preparing for these high-risk deliveries. Finally, we will review the pathophysiology resulting from the cardiac structural anomaly with resultant altered fetal circulation and discuss delivery room management of specific critical congenital heart diseases.     

Hyperammonaemia type II as one of the congenital urea cycle defects

Ornithine transcarbamylase (OTC) deficiency (hyperamonaemia type II; MIM 311250) is an X-linked disease inherited by a partially dominant trait. Clinical manifestations are more severe in hemizygous males than in heterozygous females. To date about 160 different mutations and 10 polymorphisms have been identified in the OTC gene. The mutations are mostly point mutations and are equally distributed within the gene. The majority of the OTC gene mutations occurred in the paternal germ cells. Treatment of the patients requires restriction of dietary protein intake and activation of other pathways of waste nitrogen. Recently, a study of gene therapy has been started. It consists of the transfer of cloned ornithine transcarbamylase sequence into cultured cells and animals.     

Tissue engineering in congenital diaphragmatic hernia

Engineered diaphragmatic repair is emblematic of perinatal regenerative medicine and of the fetal tissue engineering concept. The alternative of a cellularized graft for the repair of a congenital diaphragmatic defect in the neonatal period is both biologically justifiable by the mechanisms behind diaphragmatic hernia recurrence as well as an ideal match for fetal mesenchymal stem cell-based constructs. It has been among the most developed experimental pursuits in neonatal tissue engineering, of which clinical application should be forthcoming.     

Latent chronic cholangitis in congenital hepatic fibrosis

In a five-year-old girl with congenital hepatic fibrosis raised erythrocyte sedimentation rate and serum gammaglobulins were noted for 3 years. Needle liver biopsy showed histological features of cholangitis andKlebsiella oxytoca was cultured from a liver biopsy specimen. Antibiotic treatment resulted in normalization of erythrocyte sedimentation rate and serum gammaglobulins. This suggest that cholangitis can be clinically latent in congenital hepatic fibrosis and should be investigated and treated when unexplained inflammatory signs are present.     

Monitoring of congenital cardiac defects

Summary An effort was made to identify all infants born with a congenital cardiac defect in 1981 in Sweden by using four different registries: the Swedish Registry of Congenital Malformations, the Medical Birth Registry, the Registry of Death Certificates, and a specially designed Child Cardiology Registry. All infants diagnosed before the age of one year at one of the five child cardiology clinics in Sweden were reported to the latter registry. This registry, together with the Congenital Malformation Registry, can be used for surveillance as they together cover 85%–90% of all severe cases identified. The data quality in the Medical Birth Registry is too low to permit meaningful surveillance. A total of 853 infants with a diagnosis of a congenital cardiac defect were identified. This represents 9 per 1000 newborns. Many of the cases were dubious, but the diagnosis was stated as probable in 708 (7.6 per 1000); 146 infants died. Cardiac diagnoses were stored in the Child Cardiology Registry and in the Registry of Congenital Malformations as ISC codes. A Monitor Code is described that can be used for grouping and monitoring of diagnoses. Using these codes, data in the Child Cardiology Registry for 1981–1983 were analyzed and epidemiologic information on maternal age and parity, sex rate, and birth weight distribution is given.     

Fontan-type operation for correcting complex congenital defects in a criss-cross heart

Summary Three cases of criss-cross heart with severe and complex congenital defects are reported. Precise preoperative diagnosis of the morphologic abnormalities made it possible to choose an optimal method of surgical treatment: all patients successfully underwent a Fontantype surgical procedure.     

Management of congenital lung lesions

Antenatally diagnosed lung lesions are most commonly congenital cystic adenomatiod malformations (CCAMs) or bronchopulmonary sequestrations (BPS). Congenital lobar emphysema and bronchogenic cysts occur rarely. CCAMs and BPS can only be truly distinguished on histopathological assessment. CCAMs can be defined using either Stocker's histological classification, or the clinically more useful 'macrocystic' and 'microcystic' subtypes introduced by Adzick. Adverse pathophysiological effects (e.g. lung hypoplasia, mediastinal shift, caval obstruction and hydrops) can occur with those of larger volume in the developing fetus and are associated with a poor outcome ( approximately 5%). In centres with appropriate expertise, antenatal intervention (e.g. thoracoamniotic shunting) should be considered for such cases. In the postnatal period, early radiological evaluation (e.g. CT scan) is essential as many cases which apparently 'regress' antenatally are still detectable and may be a cause of later morbidity. Early surgical excision is required for symptomatic cases and should also be considered for asymptomatic antenatally diagnosed lesions, because of the risks of later infection and the possibility of malignant transformation. An excellent outcome following surgery can be expected.