Noncardiac Malformations at Major Congenital Heart Defects

Using the Swedish Cardiology Registry and the Registry of Congenital Malformations, and after excluding infants with a known chromosomal anomaly, data on 397 infants (15%) born during the period 1981–1990 with a major cardiac defect and at least one noncardiac malformation were analyzed. No clear-cut association appeared between specific heart defects and major groups of noncardiac malformations except for a possible relation between spleen anomalies and endocardial cushion defects. Specific associations also appeared between common truncus and limb reduction defects and between transposition of the great vessels and situs inversus. However, the small numbers of infants in the latter groups and the large number of tested hypotheses make it difficult to exclude chance associations.     

Congenital malformations among infants whose mothers had gestational diabetes or preexisting diabetes

BACKGROUND: Diabetes type 1 is associated with an increased risk for infant congenital malformations. It is debated whether this is true also at gestational diabetes. AIMS: To study occurrence of congenital malformations in infants whose mothers had preexisting or gestational diabetes. STUDY DESIGN: A register study covering over 1.2 million Swedish births in 1987-1997 based on the Swedish health registries. SUBJECTS: We identified from the Medical Birth Registry 3864 infants born of women with preexisting diabetes and 8688 infants born of women with gestational diabetes. OUTCOMES MEASURES: Congenital malformations identified in the Medical Birth Registry, the Registry of Congenital Malformations, and the Hospital Discharge Registry. The rates of congenital malformations among these infants was compared with the population rates. RESULTS: At preexisting diabetes, the total malformation rate was 9.5% while the rate at gestational diabetes was similar to the population rate, 5.7%. At preexisting diabetes, certain conditions were more common than expected: orofacial clefts, cardiovascular defects, oesophageal/intestinal atresia, hypospadias, limb reduction defects, spine malformations, and polydactyly. For some of these conditions, an excess was found also for infants whose mothers had gestational diabetes. Infants with multiple malformations were in excess at preexisting diabetes but not at gestational diabetes but the specific type of malformations involved were similar in the two diabetes groups. CONCLUSIONS: It is suggested that in the group of gestational diabetes exists a subgroup with an increased risk for a diabetes embryopathy, perhaps due to preexisting but undetected diabetes type 2.     

Congenital heart disease: A 10 year cohort

In order to describe the epidemiology of congenital heart disease in Western Australia, a retrospective, population-based cohort study was conducted using data collected from multiple sources of ascertainment by the Western Australian Birth Defects Registry. The prevalence of congenital heart disease was 7.65 per 1000 total births. Nine per cent of all cases had a chromosomal disorder, another 17% had extracardiac defects in addition to congenital heart disease, and 75% had isolated congenital heart disease. Congenital heart disease was more common in Aboriginal compared with non-Aboriginal infants, and in multiple births compared with singletons. Compared with infants weighing 3000 to 3499 g, infants of lower birthweight were more likely to have congenital heart disease, and infants in the heaviest category (£3500 g) were less likely to have congenital heart disease. Three per cent of all stillbirths were known to have a cardiac defect, as were 15.2% of neonatal deaths and 10.8% of post-neonatal deaths.     

The changing epidemiology of neural tube defects. United States, 1968-1989.

OBJECTIVE--To describe the recent trends and epidemiologic characteristics of neural tube defects in the United States. RESEARCH DESIGN--Ongoing surveillance data. SETTING--Two birth defect surveillance systems: the nationwide Birth Defects Monitoring Program and the Metropolitan Atlanta (Ga) Congenital Defects Program for 1970 through 1989 and 1968 through 1989, respectively. PARTICIPANTS--Between 1970 and 1989, using discharge diagnoses of approximately 1 million live-born and stillborn infants per year, the Birth Defects Monitoring Program identified 15,503 cases of spina bifida and anencephaly. Between 1968 and 1989, using discharge diagnoses and clinical records until age 1 year of 38,000 infants per year, the Metropolitan Atlanta Congenital Defects Program identified 800 cases of spina bifida and anencephaly. INTERVENTIONS--None. MEASUREMENTS/MAIN RESULTS--Nationwide, neural tube defect rates have declined from 1.3 per 1000 births in 1970 to 0.6 per 1000 births in 1989. In Atlanta, neural tube defect rates have declined from 2.0 per 1000 births in 1968 to 0.6 per 1000 births in 1989. Several changes in the epidemiologic characteristics of neural tube defects were observed: (1) the proportion of spina bifida cases has increased; (2) the proportion of neural tube defect cases compared with the proportion of other unrelated defects has increased; (3) the race ratio of whites to other races for isolated neural tube defect cases has declined in Atlanta; and (4) the rate of isolated neural tube defects in females has also decreased. CONCLUSIONS--The declining rates of neural tube defects can be partially explained by increased widespread prenatal diagnostic techniques, strongly suggesting the role of environmental factors in neural tube defects. In particular, the use of multivitamins and folic acid to prevent the occurrence of neural tube defects needs further evaluation. Nevertheless, the changing clinical and epidemiologic characteristics of cases over time points to the etiologic heterogeneity of these conditions.     

Prevalence of cleft lip and/or palate in children from Lodz between years 1981–2010

Congenital malformations constitute a serious problem of both medical and social nature. Cleft lip and/or palate represent the most common congenital anomaly of the face that is why it is essential to know the real frequency of the described phenomenon. The aim of this paper is to determine the frequency of cleft lip and/or palate and the types of malformations that occurred in Lodz city between the years 1981–2010. Our clinic has been carrying on the studies concerning the incidence of cleft lip and/or palate since 1981. The Polish Registry of Congenital Malformations has been operating in Poland since 1 April 1997. The team has managed to obtain data, from the Registry, concerning the total number of all live born infants and the number of children with cleft lip and/or palate, who were born in Lodz, between 1998 and 2010. In years 1981–2010, 319 children, in 210 952 live born infants, were born with cleft lip and/or palate in Lodz. The isolated cleft palate was observed more frequently in girls and the unilateral cleft of lip and palate in boys. In all three decades palate clefts are more common whereas bilateral lip, alveolus and palate clefts are more infrequent. A small tendency to decrease in actual cleft lip and/or palate frequency among children, in the period of 30 years, is observed in Lodz. Over the years it has still been observed that the isolated cleft palate is the most common type of defect.     

Sleeping position and sudden infant death syndrome in Norway 1967-91

OBJECTIVE--To investigate, in a population based national study, the association between sleeping position of infants and the occurrence of sudden infant death syndrome (SIDS). DESIGN--A retrospective survey and registry based ecological study. A questionnaire based surveillance of sleeping position was obtained in a random sample (n = 34,799) and surveillance of SIDS was based on all infants born in Norway 1967-91, surviving the perinatal period. Variables studied from the questionnaire were usual sleeping position (placed), breast feeding at 3 months, and maternal smoking in pregnancy, and from the Medical Birth Registry maternal age, birth order, and birth weight. RESULTS--Proportion of infants sleeping prone increased from 1970 (7.4%) to 1989 (49.1%) and dropped in 1990 (26.8%) and 1991 (28.3%). Occurrence of SIDS increased from 1970 (1.1/1000) to 1989 (2.0) before dropping in 1990 and 1991 (1.1). IMPLICATION AND RELEVANCE OF RESULTS--A cause effect relationship between prone sleeping and SIDS as suggested in previous studies is supported by the present; and so far only, national study of infants' sleeping position.     

Sleeping position and sudden infant death syndrome in Norway 1967-91.

OBJECTIVE--To investigate, in a population based national study, the association between sleeping position of infants and the occurrence of sudden infant death syndrome (SIDS). DESIGN--A retrospective survey and registry based ecological study. A questionnaire based surveillance of sleeping position was obtained in a random sample (n = 34,799) and surveillance of SIDS was based on all infants born in Norway 1967-91, surviving the perinatal period. Variables studied from the questionnaire were usual sleeping position (placed), breast feeding at 3 months, and maternal smoking in pregnancy, and from the Medical Birth Registry maternal age, birth order, and birth weight. RESULTS--Proportion of infants sleeping prone increased from 1970 (7.4%) to 1989 (49.1%) and dropped in 1990 (26.8%) and 1991 (28.3%). Occurrence of SIDS increased from 1970 (1.1/1000) to 1989 (2.0) before dropping in 1990 and 1991 (1.1). IMPLICATION AND RELEVANCE OF RESULTS--A cause effect relationship between prone sleeping and SIDS as suggested in previous studies is supported by the present; and so far only, national study of infants'' sleeping position.     

Congenital malformations in infants whose mothers reported the use of folic acid in early pregnancy in Sweden. A prospective population study

The use of folic acid prior to conception is generally recommended for the prevention of birth defects, notably neural tube defects. In a previous study from Sweden, based on interviews of women in early pregnancy, no such effect was found on the general malformation rate, but data for neural tube defects were scarce. Using data from the Swedish Medical Birth Register for the years 1995-2004, 20 891 women were identified who reported the use of folic acid in early pregnancy, but not of anticonvulsants. These women were compared to all other women who gave birth during the study period. Malformations in the infants born were identified from multiple sources. No reduction in the general malformation rate was seen among infants born to women who reported the use of folic acid (OR = 1.09, 95% CI 1.02-1.17) and no effect of neural tube defect rate was seen (RR = 1.35, 95% CI 0.82-2.22), based on 16 infants with neural tube defect whose mother reported the use of folic acid. No effect was seen on the rates of other malformations except for cardiac defects, where a statistically significant increased risk (notably for severe defects) was found (OR = 1.19, 95% CI 1.05-1.35). The effect of various deficiencies in data collection is discussed, but is unlikely to explain the lack of protective effect noticed. So far, it has not been possible to demonstrate a beneficial effect of folic acid supplementation on malformation risk in Sweden. A more complete ascertainment and detailed timing and dosage of folic acid use in a prospective study is recommended.     

SEASONAL INCIDENCE OF SOME CONGENITAL MALFORMATIONS IN THE CENTRAL NERVOUS SYSTEM IN SWEDEN, 1965–1972

Abstract Seasonal trends of some congenital CNS malformations in infants born in Sweden during the years 1965 to 1972 were investigated. The study is based on reports to the Swedish Register of Congenital Malformations, statistics from the National Board of Health, and records from Malmö General Hospital and the Hospital of Lund. The malformations analysed in this study are anencephaly, spina bifida aperta (with or without hydrocephalus) and isolated hydrocephalus. Variations in incidence of months of birth and last menstrual period (LMP) were tested statistically in three different ways: standard χ²-test for heterogeneity between recorded numbers of infants each calender month, Edwards' method, and a squared sinus function, all with or without correction for variations in genera) monthly birth rates. Statistical significant seasonal variations were found for anencephaly with an LMP maximum in March and for spina bifida aperta with a maximum in July. Factors which can explain such seasonality are briefly discussed.     

Seasonal incidence of some congenital malformations in the central nervous system in Sweden, 1965-1972.

Seasonal trends of some congenital CNS malformations in infants born in Sweden during the years 1965 to 1972 were investigated. The study is based on reports to the Swedish Register of Congenital Malformations, statistics from the National Board of Health, and records from Malm? General Hospital and the Hospital of Lund. The malformations analysed in this study are anencephaly, spina bifida aperta (with or without hydrocephalus) and isolated hydrocephalus. Variations in incidence of months of birth and last menstrual period (LMP) were tested statistically in three different ways: standard X2-test for heterogeneity between recorded numbers of infants each calender month, Edwards' method, and a squared sinus function, all with or without correction for variations in general monthly birth rates. Statistical significant seasonal variations were found for anencephaly with an LMP maximum in March and for spina bifida aperta with a maximum in July. Factors which can explain such seasonality are briefly discussed.     

The First U.S.-Japan Teratology Seminar, 1965

ABSTRACT A U.S.-Japan Seminar on was held in Tokyo on November 1–5, 1965 on "Epidemiological Studies into the Etiology of Congenital Malformations and Cancer." It was convened by Dr. Hideo Nishimura of Kyoto University and Dr. Robert W. Miller of the National Cancer Institute (NCI). The main purposes were to introduce teratologists from the two countries to one another and to seek new areas of research. Among the assets for research in Japan were 1) Dr. Nishimura's collection of embryos for studies of normal intrauterine growth and for studies of congenital malformations among spontaneous miscarriages; 2) the availability of standard occupational records for information related to reproductive performance; 3) the family registry ( koseki ), useful for follow-up studies, vital events and evidence of consanguinity; 4) the Metropolitan Tokyo Children's Cancer Registry which soon after was extended to 5 more metropolitan areas; 5) the annual publication of autopsy summaries; 6) data from the (U.S.-Japan) Atomic Bomb Casualty Commission in Hiroshima and Nagasaki; 6) death-certificate diagnoses for migrants from Japan to the U.S. among whom studies of changes in cancer rates had been initiated at the NCI. Also in Japan 7% of marital partners were second-cousins or closer, of interest in studying genetic effects on the occurrence of cancer or congenital malformations. The seminar was followed by a workshop on methods in teratology held in Kyoto in 1968. These meetings led to progressive increases in the exchange of scientists and information.     

Prospective assessment of recurrence risk in sudden infant death syndrome siblings

Knowledge of the likelihood of a repetition of sudden infant death syndrome within a sibship, particularly in the next sibling, is important to parents. Methodologic considerations with respect to the studies of recurrence risk already published indicate that the rates reported are overestimates. This suspicion is confirmed by our study based on 826,162 infants surviving the first week of life on file in the Medical Birth Registry of Norway. A total of 1062 (1.3 per 1,000) infants died of SIDS; five deaths occurred as the second case in a family. The recurrence risk for the nextborn sibling was 5.6 per 1000, and for all subsequent siblings 4.8 per 1000, which would seem encouragingly low from a counseling point of view.     

The Epidemiology of Cardiovascular Defects,Part I: A Study Based on Data from Three Large Registries of Congenital Malformations

To analyze complex and noncomplex cardiac malformations regarding prevalence and in relation to demographic variables, we pooled data on infants (age 1 year or younger) with congenital cardiovascular defects from three large birth defect registries in California, Sweden, and France. Altogether, 12,932 infants had one or more congenital heart defects out of 4.4 million live births and stillbirths. The registries in Sweden and France obtained data through reporting from various sources; in California, medical records were reviewed. As expected, definitions and ascertained conditions differed among each of the registries. The total rates for severe defects were similar (1.43 per 1,000), but differed for specific defects. Clear differences in epidemiological characteristics existed for specific defects; for example, severe cardiac defects sex ratios were significantly high for hypoplastic left heart syndrome, d-transposition of great vessels, double outlet right ventricle, total anoralous pulmonary venous return, tetralogy of Fallot, and significantly low for pulmonary atresia without ventricular septal defect and endocardial cushion defect. Few defects were similar for several epidemiological characteristics, but, for example, the combination of ventricular and atrial septal defects appeared equivalent with endocardial cushion defect under some circumstances, yet behaved differently with regard to associated noncardiovascular defects.     

Early detection of congenital cardiovascular malformations in infancy

In an ongoing population-based study of congenital cardiovascular malformations in the Baltimore-Washington, DC, area, 1527 affected infants were ascertained from multiple sources during the years 1981 to 1984. Ninety-eight percent were evaluated at a regional pediatric cardiology center. Among the unreferred cases, in which the cardiac defect was diagnosed only at autopsy, most infants died in the first week of life and had associated problems, such as low birth weight, major noncardiac malformations, or other life-threatening illnesses, but a few infants with potentially remediable heart disease escaped clinical detection. Until preventive measures become available, reduction of infant mortality due to congenital cardiovascular malformations will continue to depend on early recognition of signs of serious heart disease in infants and on effective community-wide use of specialized cardiac services.     

The influence of trisomy 21 on the incidence and severity of congenital heart defects in patients with duodenal atresia

Duodenal atresia is associated with a wide variety of congenital malformations. Trisomy 21 occurs in approximately one-thirds of infants with duodenal atresia. Congenital heart disease in patients with trisomy 21 and duodenal atresia is well known. However, the frequency and spectrum of congenital heart defects in infants with duodenal atresia and a normal karyotype has not been outlined in the literature. Therefore, we conducted a retrospective chart review to clarify our knowledge about this population. Retrospective review of the medical record was performed on patients with duodenal atresia/stenosis from January 1995 to September 2007. Demographic data included birth weight and gestational age. Variables of interest included cardiac defects and karyotype. Surgical repair for duodenal and cardiac malformations were reviewed. Ninety-four patients with duodenal atresia/stenosis were identified. Average gestational age was 36 weeks and birth weight was 2,536 g. Trisomy 21 was identified in 39 (41%) patients. Overall, 37 patients (39.3%) had a congenital heart defect. Defects were identified in 24 (61.5%) patients with trisomy 21, when compared to 13 (23.6%) patients with a normal karyotype. Of the patients with congenital heart defects and trisomy 21, 11 (28.2%) required operative repair compared to the 6 (10.9%) patients with a defect and normal karyotype. Therefore, in patients with duodenal atresia, the presence of trisomy 21 carries a relative risk of 2.61 for congenital heart defects, and relative risk of 2.59 for open heart surgery. In patients with duodenal atresia, the presence of trisomy 21 carries a 2.5-fold increased risk of cardiac defect and the same increased risk for repairing a cardiac defect.     

Nomenclature and Databases — The Past, the Present, and the Future

This review discusses the historical aspects, current state of the art, and potential future advances in the areas of nomenclature and databases for congenital heart disease. Five areas will be reviewed: (1) common language = nomenclature, (2) mechanism of data collection (database or registry) with an established uniform core data set, (3) mechanism of evaluating case complexity, (4) mechanism to ensure and verify data completeness and accuracy, and (5) collaboration between medical subspecialties. During the 1990s, both the Society of Thoracic Surgeons (STS) and the European Association for Cardiothoracic Surgery (EACTS) created congenital heart surgery outcomes databases. Beginning in 1998, the EACTS and STS collaborated in the work of the International Congenital Heart Surgery Nomenclature and Database Project. By 2000, a common congenital heart surgery nomenclature, along with a common core minimal data set, were adopted by the EACTS and the STS and published in the Annals of Thoracic Surgery. In 2000, the International Nomenclature Committee for Pediatric and Congenital Heart Disease was established; this committee eventually evolved into the International Society for Nomenclature of Paediatric and Congenital Heart Disease (ISNPCHD). The working component of ISNPCHD is the International Working Group for Mapping and Coding of Nomenclatures for Paediatric and Congenital Heart Disease, also known as the Nomenclature Working Group (NWG). By 2005, the NWG cross-mapped the EACTS–STS nomenclature with the European Paediatric Cardiac Code of the Association for European Paediatric Cardiology and created the International Paediatric and Congenital Cardiac Code (IPCCC) (). This common nomenclature (IPCCC), and the common minimum database data set created by the International Congenital Heart Surgery Nomenclature and Database Project, are now utilized by both EACTS and STS; since 1998, this nomenclature and database have been used by both the STS and EACTS to analyze outcomes of more than 75,000 patients. Two major multi-institutional efforts have attempted to measure case complexity; the Risk Adjustment in Congenital Heart Surgery-1 and the Aristotle Complexity Score. Efforts to unify these two scoring systems are in their early stages but are encouraging. Collaborative efforts involving the EACTS and STS are under way to develop mechanisms to verify data completeness and accuracy. Further collaborative efforts are also ongoing between pediatric and congenital heart surgeons and other subspecialties, including pediatric cardiac anesthesiologists (via the Congenital Cardiac Anesthesia Society), pediatric cardiac intensivists (via the Pediatric Cardiac Intensive Care Society), and pediatric cardiologists (via the Joint Council on Congenital Heart Disease). Clearly, methods of congenital heart disease outcomes analysis continue to evolve, with continued advances in five areas: nomenclature, database, complexity adjustment, data verification, and subspecialty collaboration.     

Epidemiology of facial clefts.

Data from the Glasgow Register of Congenital Malformations were used to investigate the epidemiology of congenital facial clefts over the period 1974-85. Facial clefts were registered in 247 infants representing a prevalence of 1.56 per 1000 total births. Cleft palate was more common than cleft lip, with cleft lip and palate occupying an intermediate position. More than half of the infants with facial clefts had associated defects. Males predominated for cleft lip; females for cleft palate. Cleft lip (alone) was more common in babies born to women aged 35 years and over. Sudden declines in registered prevalence were observed in 1978 and 1985. Clefts were more common in socioeconomically deprived areas of the city. In comparison with data from elsewhere, Glasgow seems to have a low rate of cleft lip, a high rate of cleft palate, and a high rate of associated defects. Many of the findings of cleft palate in Glasgow could be explained by the interaction of an unidentified environmental teratogen with a susceptible population.     

Prevalence and distribution of children with congenital heart diseases in the central Anatolian region, Turkey

Congenital heart diseases (CHD) are the most frequent malformation at birth. The aims of this study were to assess the prevalence of congenital heart disease, their different types, and the detection rate among children in the central Anatolian region in Turkey. The study was conducted during an eight-year period (March 1995-December 2002). The prevalence of CHD in a large tertiary care hospital in the central Anatolian region in Turkey was studied. The diagnosis of a structural defect was based on echocardiographic study. The following age groups were considered: neonates, infants and toddlers, preschool children, schoolchildren, and adolescents. In the study period, 1,693 children were found to have CHD; 1253 patients were neonates and infants. Total prevalence of CHD over the study period was 7.77 per 1000 live-born. The prevalence increased from 6.35 to 9.65 per 1000 live births between 1995 and 2002 (p < 0.05). The average age at diagnosis was 2.2 +/- 3.64 years (1 day to 18 years, median 5 months). There were 863 (51%) boys and 830 (49%) girls, with a male/female ratio of 1:1. Isolated ventricular septal defect (32.6%) was the most frequent acyanotic anomaly, and tetralogy of Fallot (5.8%) was the most frequent cyanotic anomaly. The commonest non-cardiac anomalies with CHD were musculoskeletal anomalies. Down syndrome was determined in 83 patients (78.3%) from all syndromic CHD cases. Congenital heart disease is a very significant health problem. It requires urgent measures in terms of organization of early diagnosis and proper management. The prevalence rate is comparable to that of similar developed countries. Increasing incidence of CHD might be attributed to more diagnoses with new technologic development or it may indicate a real increase in the defects.     

The Heart in Friedreich's Ataxia: Basic Findings and Clinical Implications

The National Pediatric Cardiology Quality Improvement Collaborative (NPC-QIC) was established by the Joint Council on Congenital Heart Disease to dramatically improve the outcomes of care for children with congenital heart disease (CHD) through a national collaborative network of multidisciplinary clinical teams and families, working together to collect longitudinal data, use improvement science methods and conduct research intended to accelerate the development and translation of new knowledge into practice. The initial project selected for this learning network is focused on care processes and outcomes of the initial interstage period for infants with hypoplastic left heart syndrome. A practice-based registry is being used to understand variation in care and outcomes of infants and children with complex CHD. The NPC-QIC has effectively recruited and engaged a large number of U.S. centers caring for infants with complex CHD and provides the infrastructure needed to support the implementation of practice changes across the collaborative that will ultimately improve outcomes in this high-risk group of patients. We describe here the development and early years of NPC-QIC as well as the challenges this collaborative faces moving forward.     

Perinatally acquired brachial plexus palsy–a persisting challenge

The aim of this investigation was to study the contemporary pattern of perinatally acquired brachial plexus palsy (BPP) in Sweden. National incidence data were collected from the Swedish Medical Birth Registry. The clinical pattern of BPP was studied in the county of Skaraborg. All children ( n = 52) with confirmed neonatal BPP in 1981 -89 were assessed 4–14 y after birth using routine neonatal and follow-up documentation for retrospective analysis and an assessment battery for the clinical evaluation of impairment. The mothers' recollection of the birth process was recorded by interview and compared with two control groups. The incidence of BPP in Sweden increased significantly from 1. 4 per mill in 1980 to 2. 3 per mill in 1994. The incidence was 45 times higher at a birthweight of >4500 g than at a birthweight of < 3500 g. Fifty percent had a birthweight exceeding the mean + 2 SD. In the Skaraborg series, half the children had normalized arm-hand function after 6 months (mean) and half had stationary impairment from 15 months (mean). Twenty-two percent of the children had severe stationary impairment of arm-hand function according to the criteria. There was no correlation between birthweight and the level of impairment. One-third of the newborn infants with BPP had neonatal care related to the difficult birth process and perinatal distress. The mothers of the children recalled the birth process as being difficult or very difficult in 77% compared with 20 and 27%, respectively, in the two control groups. This population-based investigation has revealed an unexpected increase in BPP in Sweden and has confirmed that BPP continues to be a significant cause of motor handicap in children.