Is gastroschisis truly a sporadic defect? Familial cases of gastroschisis in Utah, 1997 to 2008

BACKGROUND: Gastroschisis remains an epidemiologic and pathogenetic dilemma, with genetics not thought to play a significant role in its etiology. The purpose of this study was to determine which gastroschisis cases in the Utah Birth Defect Network (UBDN) were related and the excess familial risk among multigenerational families. METHODS: Gastroschisis cases born from 1997 through 2008 were identified from the statewide population‐based UBDN and linked with the Utah Population Database (UPDB) to access multigenerational pedigrees. We analyzed these pedigrees using the familial standardized incidence ratio (FSIR). RESULTS: Of the 284 UBDN gastroschisis cases, one in 40 (n = 7; 2.5%) were reported to have another affected family member. Among these seven cases, three had affected sib pairs and four reported either a distant cousin, paternal uncle, maternal half‐uncle, or paternal cousin with gastroschisis. UBDN‐UPDB–linked cases resulted in many multigenerational pedigrees with the same affected descendents through marriage. We selected 30 pedigrees for repeated analysis based on two parameters: highest FSIRs with a p ≤ 0.01 and ≥2 cases. In these 30 pedigrees, FSIRs ranged from 3.7 to 93.5 (p < 0.009), each with two to eight distantly related cases (n = 64 distinct cases, representing 23% of the 284). CONCLUSIONS: We found a statistically significant excess risk for gastroschisis because of familial factors. Similar to many other birth defects, gastroschisis may fit a multifactorial model of inheritance. The UBDN‐UPDB linkage provides a robust approach to investigating genetic factors. Genetic susceptibility should be further investigated because it may have a greater role in the etiology of gastroschisis than currently appreciated. Birth Defects Research (Part A), 2011. © 2011 Wiley‐Liss, Inc.     

Improving case ascertainment of a population-based birth defects registry in New York State using hospital discharge data

BACKGROUND: The assessment of the data quality of population-based registration systems is essential to understanding the reliability and usefulness of disease surveillance and research findings resulting from the use of registry data. Since the New York State Congenital Malformations Registry (CMR) uses passive case ascertainment, the completeness of the registry data is an important aspect of the quality of information. This paper presents the results of hospital audits, which were conducted to capture the unreported cases using hospital discharge files, and evaluates the effectiveness of the audits. METHODS: Children age 2 years or younger and diagnosed with reportable birth defects for the birth years 1998-2000 were selected from hospital discharge files of all reporting hospitals in the New York Statewide Planning and Research Cooperative System (SPARCS) and matched to the CMR database for the same birth year period.The unmatched reports from the SPARCS hospital discharge files that the CMR possibly missed were sent to hospitals, requesting submission of the missed reports. Two audits on all reporting hospitals in New York State were conducted: 1) 1998 and 1999 birth cohorts audited from June 2000 to March 2002, and 2) 2000 birth cohort audited from November 2001 to November 2002. RESULTS: Hospital audits using SPARCS hospital discharge data identified 5,460 reports that the CMR missed for the selected 66 hospitals analyzed. About 86% of these reports had reportable conditions and were added to the CMR, which comprised 21.4% of all reports from the 66 hospitals for the birth years 1998-2000. The number of reports that would have been missed without audits decreased from the 1998 and 1999 birth cohort (25.1%) to the 2000 birth cohort (13.9%). Low reporting rates and, thus, a high percent of added reports, were found for hospitals with a relatively small number of annual reports and for some specific birth defects such as chromosomal anomalies, anencephalus and congenital anomalies of the urinary system. CONCLUSION: The current study demonstrates that using hospital discharge data to improve case ascertainment is a valuable and effective method of enhancing birth defect surveillance, particularly for those hospitals with low reporting rates.     

Problems in using birth certificate files in the capture-recapture model to estimate the completeness of case ascertainment in a population-based birth defects registry in New York State

BACKGROUND: The limitations and underlying assumptions of the capture-recapture methods have hindered their application in epidemiological settings, especially in evaluating the completeness of birth defects registries. This study explored the possibility of using birth certificates as the secondary data source in a simple two-source capture-recapture model to estimate the completeness of case ascertainment of the Congenital Malformations Registry (CMR) for selected major birth defects. METHODS: The CMR and the birth certificates were used as the primary and secondary sources, respectively. Children who were born in 1996-2001 and had selected major birth defects were identified from the two sources. The accuracy of the diagnoses was examined by comparing the individual birth defect categories of the children from the two sources. RESULTS: Discrepancies in birth defect categories in the two data sources and false positives in the birth certificates were the major problems encountered in estimating the completeness of the CMR using the simple two-source capture-recapture method. The estimated completeness for selected major birth defects was only about 71%. Stratified analyses resulted in relatively high estimated completeness for oral clefts (90%) and Down syndrome (88%). CONCLUSIONS Although the birth certificate data was not a good source for estimating the completeness of case ascertainment of the CMR using capture-recapture methods, the analyses provided reasonable estimates for some conditions that were relatively easy to identify and diagnose at birth, such as oral clefts and Down syndrome.     

Ascertainment of gastroschisis using the ICD-9-CM surgical procedure code

OBJECTIVE: To determine the effectiveness of using the ICD-9-CM procedure code 54.71 for case ascertainment of gastroschisis. METHODS: Using procedure code 54.71, we queried a statewide hospital discharge database to identify all cases coded as undergoing surgical repair of gastroschisis. Each retrieved case was verified as having gastroschisis by review of the hospital record. All gastroschisis cases were then matched to the Florida Birth Defect Registry (FBDR) dataset. This registry uses a passive system of multiple data sources and employs the ICD-9-CM diagnostic code 756.79 to identify gastroschisis and other abdominal wall defects. RESULTS: Of 93 cases identified by using code 54.71, 92 were confirmed by record review to have gastroschisis. The FBDR identified 87 of the 92 cases (95%). The FBDR missed three of the remaining five cases because of linkage difficulties between inconsistent data elements in the respective data files. The other two cases were not identified by the FBDR because the source database (AHCA discharge) truncates the entry of ICD-9-CM diagnostic codes when more than 10 of them are listed in the medical record. CONCLUSIONS: Use of the surgical procedure code was demonstrated to be superior to the diagnostic code as a method for identification of gastroschisis cases. The same approach may be useful in the detection of malformations other than gastroschisis.     

Improving the quality of surveillance data on congenital heart defects in the metropolitan Atlanta congenital defects program

BACKGROUND: One of the challenges in epidemiologic studies of congenital heart defects (CHDs) has been the lack of a current, standard nomenclature and classification system. Recently such a standard nomenclature became available from the Society of Thoracic Surgeons (STS) Congenital Heart Surgery Database. This study reports the classification of cases of CHDs in a birth defects surveillance database using modified STS nomenclature. METHODS: Records of infants and fetuses in the Metropolitan Atlanta Congenital Defects Program delivered during 1968-2003 with CHD diagnoses were reviewed by a team of pediatric cardiologists. The cases were assigned one or more STS codes and subsequently grouped into successively broader levels of aggregation. Aggregation was based on presumed morphogenetically similar developmental mechanisms. RESULTS: There were 12,639 cases reviewed, of which 89% had a single, primary STS code. Structural CHDs were found in 7,749 infants, while 4,890 were considered to have structurally normal hearts. Application of clinical CHD nomenclature improved the clinical accuracy of surveillance data by eliminating normal physiologic variants and obligatory shunt lesions. Classification also aggregated specific CHDs into groups appropriate for research and surveillance. CONCLUSIONS: Application of a current, standard CHD nomenclature and classification system to cases in a birth defects surveillance database improves the specificity of cardiac diagnoses and allows for the development of a flexible case aggregation system for monitoring of CHD prevalence.     

Use of CUSUM and Shewhart charts to monitor regional trends of birth defect reports in New York State

BACKGROUND: Cumulative sum (CUSUM) charts were originally developed for industrial quality control, but may be adapted for the surveillance of health outcome data, such as birth defects. The reported prevalence of birth defects can vary due to differences in case ascertainment, surveillance practices, or true changes in prevalence. We examined the utility of CUSUM and Shewhart charts for detect-ing changes in prevalence of two different birth defect groups. We chose obstructive renal defects because we expected an increase in reporting due to improved diagnosis. We chose oral clefts for comparison because we expected reporting to be unaffected by changes in diagnostic technologies. METHODS: Data from the New York State Congenital Malformations Registry from 1992-1999 were analyzed using self-starting binomial CUSUM and Shewhart charts for four regions of New York State. RESULTS: CUSUM charts show that reports of obstructive urinary defects have increased from 1992-1999 in all regions of New York State. Reports of oral clefts increased only on Long Island. CONCLUSIONS: The CUSUM method proved useful for identifying changes in birth defect reporting and was able to detect the expected increases in obstructive renal defects. The apparent increase is likely due to improvements in diagnostic imaging techniques. In contrast, we only detected an increase in oral clefts on Long Island, which may be related to under report-ing of cases in the earlier years. CUSUM charts are useful in detecting small, sustained increases in prevalences over time while Shewhart charts are easier to interpret and can detect large sharp increases.     

Ascertainment of pregnancies terminated because of birth defects: effect on completeness of adding a new source of data

BACKGROUND: When evaluating preventive programs such as folate promotion and rubella vaccination, it is critically important to include terminations of pregnancy for neural tube defects and congenital rubella syndrome. Data from birth defects registries are often used for this purpose. The Western Australian Birth Defects Registry ascertains cases of birth defects in livebirths, stillbirths, and terminations of pregnancy for fetal abnormality, using multiple sources of ascertainment. METHODS: Data on terminations of pregnancy for fetal abnormality from the Western Australian Hospital Morbidity Data System 1980-1997 (not previously available to the Registry) were used to estimate the completeness of ascertainment of such cases by the Registry. Ascertainment-adjusted prevalences were calculated using capture-recapture methods. RESULTS: A total of 702 terminations with birth defects were identified among hospital discharges, most of which were already known to the Registry (87.9%). Of the 85 new cases, seven had a neural tube defect, 23 had a chromosomal defect, and 12 had confirmed maternal rubella infection during pregnancy. The ascertainment-adjusted prevalence was not importantly [corrected] different for birth defects overall or for these individual conditions, although the 95% confidence intervals for all birth defects, and for all chromosomal defects, did not include the prevalence based on registered cases only. CONCLUSIONS: The Western Australian Birth Defects Registry ascertains a high proportion of pregnancies terminated for fetal abnormality, and should therefore be a reliable source of data with which to assist in monitoring the effectiveness of preventive programs.     

A hierarchical model for analyzing multisite individual-level disease surveillance data from multiple systems

Passive surveillance systems are widely used to monitor diseases occurrence over wide spatial areas due to their cost-effectiveness and integration into broadly distributed healthcare systems. However, such systems are generally associated with imperfect ascertainment of disease cases and with heterogeneous capture probabilities arising from factors such as differential access to care. Augmenting passive surveillance systems with other surveillance efforts provides a way to estimate the true number of incident cases. We develop a hierarchical modeling framework for analyzing data from multiple surveillance systems that allows for individual-level covariate-dependent heterogeneous capture probabilities, and borrows information across surveillance sites to improve estimation of the true number of incident cases. Inference is carried out via a two-stage Bayesian procedure. Simulation studies illustrated superior performance of the proposed approach with respect to bias, root mean square error, and coverage compared to a model that does not borrow information across sites. We applied the proposed model to data from three surveillance systems reporting pulmonary tuberculosis (PTB) cases in a major center of ongoing transmission in China. The analysis yielded bias-corrected estimates of PTB cases from the passive system and led to the identification of risk factors associated with PTB rates, as well as factors influencing the operating characteristics of the implemented surveillance systems.     

Patterns and trends of multiple congenital anomalies in birth defects surveillance systems

Infants with multiple congenital anomalies (MCA) can provide important clues in the detection of teratogenic agents. Definition, classification, and ascertainment of MCA vary, however. We present comparative epidemiologic data on MCA from two U.S. surveillance systems: the Metropolitan Atlanta Congenital Defects Program, which ascertains major birth defects during the first year of life, and the Birth Defects Monitoring Program, a nationwide system that relies on newborn hospital-discharge diagnoses. This system has two components: the Commission on Public Hospitals Activities (CPHA) and the McDonnell Douglas Health Information System (MDHIS). Our analyses were based on over 600,000 births occurring in Atlanta, and over 5 million births occurring nationwide. Infants were classified as having MCA if they had two or more major defects from different categories (central nervous system, eye, orofacial, gastrointestinal, cardiovascular, genitourinary, and musculoskeletal). Additional analyses were also done on infants with three or more defects. Compared with the nationwide system, Atlanta showed 1) a much higher rate of MCA (16.2 per 10,000 births vs. 4.9 and 3.8 per 10,000 births in CPHA and MDHIS, respectively) and 2) a higher rate of MCA with chromosomal syndromes (2.0 per 10,000 births vs. 0.6 and 0.3 per 10,000 births in CPHA and MDHIS, respectively). Moreover, in Atlanta, the proportion of MCA with recorded chromosomal syndromes increased substantially during 20 years. These data point to differences in the ascertainment of MCAs in birth defects surveillance systems. More effort is needed to improve the ascertainment and comparability of MCA in surveillance systems, an important step toward better detection of human teratogens.     

The completeness and timeliness of cancer registration and the implications for measuring cancer burden

BackgroundPopulation based cancer registration provides a critical role in disease surveillance in terms of incidence, survival, cancer cluster investigations and prevalence trends, and therefore high levels of completeness and timeliness are required. This study estimates completeness and variation between early and late registrations in the N. Ireland Cancer Registry (NICR) and assesses the implications for reporting cancer incidence and for registry-based research.MethodsTwo main approaches assessed completeness. For the period 2010–2012, incidence reported in the first year of data publication was compared to incidence reported in subsequent years until 2015. Demographic characteristics and survival of incident cases ascertained before the first publication year were compared to those ascertained in subsequent years. The flow method approach was used to estimate completeness annually after the incident year.ResultsOverall incidence for all cancers increased between the first year of data publication and subsequent years up to 2015, irrespective of year of diagnosis. Late registrations had poorer survival. The flow method approach estimated the completeness of case ascertainment of NICR data to be 96% complete at five years for all cancers combined.ConclusionThe estimated completeness levels for the NICR are comparable to other high quality cancer registries internationally. While data timeliness has little impact on incidence estimates, delays in registration may have implications for specific research studies into incidence and survival. This means that improvements in the timeliness of reporting should be a target for all registries but not at the expense of completeness.     

Neural tube defect rates before and after food fortification with folic acid

BACKGROUND: Since 1998, enriched cereal grains sold in the United States have been fortified with folic acid, to reduce the incidence of neural tube defects (NTDs). The Centers for Disease Control and Prevention (CDC) recently reported that NTD rates have decreased 26% since fortification, but that additional effort is needed to achieve the national goal of a 50% reduction. However, accurate determination of NTD rates requires counting antenatally detected cases; the CDC study noted that the number of prenatally diagnosed cases was likely underestimated. METHODS AND RESULTS: We examined studies from the United States and Canada that compared rates of NTDs before and after very similar fortification programs were instituted in each country. U.S. studies had incomplete ascertainment of prenatally diagnosed NTD cases, and as a result, underreported the number of NTDs prevented. Canadian studies, in which ascertainment was more complete, showed decreases in NTD rates up to 54%. CONCLUSIONS: There is a strong correlation between the completeness of ascertainment and the percentage decrease in NTD rates. Studies that identify cases best show that folic acid fortification is preventing around 50% of NTDs. The percentage of NTDs that are folate-preventable in the United States is uncertain, but is probably 50-60%. Thus, we may be quite close to achieving the optimum level of protection at current fortification levels.     

Visualization and interpretation of birth defects data using linked micromap plots

BACKGROUND: Many states have implemented birth defects surveillance systems to monitor and disseminate information regarding birth defects. However, many of these states rely on tabular methods to disseminate statistical birth defects summaries. An innovative presentation technique for birth defect data that portrays the information in a joint geographical and statistical context is the linked micromap (LM) plot. METHODS: LM plots were generated for oral cleft data at two geographical resolutions—USA states and counties of Utah. The LM plots also included demographic and behavioral risk data. RESULTS: A LM plot for the USA reveals spatial patterns indicating higher oral cleft occurrence in the southwest and the midwest and lower occurrence in the east. The LM plot also indicates relationships between oral cleft occurrence and maternal smoking rates and the proportion of American Indians and Alaskan Natives. In particular, the five states with the highest oral cleft occurrence had a higher proportion of American Indians and Alaskan Natives. Among the 15 states with the highest oral cleft occurrence, nine had a smoking rate of 16% or higher while among the 15 states with the lowest oral cleft occurrence only one state had a smoking rate greater than 16%. The LM plot for the state of Utah shows no clear geographic pattern, due perhaps to a relatively small number of cases in a limited geographic area. CONCLUSIONS: LM plots are effective in representing complex and large volume birth defects data. Integration to birth defects surveillance systems will improve both presentation and interpretation. Birth Defects Research (Part A), 2008. © 2007 Wiley‐Liss, Inc.     

Measuring the unknown: An estimator and simulation study for assessing case reporting during epidemics

The fraction of cases reported, known as ‘reporting’, is a key performance indicator in an outbreak response, and an essential factor to consider when modelling epidemics and assessing their impact on populations. Unfortunately, its estimation is inherently difficult, as it relates to the part of an epidemic which is, by definition, not observed. We introduce a simple statistical method for estimating reporting, initially developed for the response to Ebola in Eastern Democratic Republic of the Congo (DRC), 2018–2020. This approach uses transmission chain data typically gathered through case investigation and contact tracing, and uses the proportion of investigated cases with a known, reported infector as a proxy for reporting. Using simulated epidemics, we study how this method performs for different outbreak sizes and reporting levels. Results suggest that our method has low bias, reasonable precision, and despite sub-optimal coverage, usually provides estimates within close range (5–10%) of the true value. Being fast and simple, this method could be useful for estimating reporting in real-time in settings where person-to-person transmission is the main driver of the epidemic, and where case investigation is routinely performed as part of surveillance and contact tracing activities.     

Evaluation of the National Notifiable Diseases Surveillance System for Dengue Fever in Taiwan, 2010–2012

BackgroundIn Taiwan, around 1,500 cases of dengue fever are reported annually and incidence has been increasing over time. A national web-based Notifiable Diseases Surveillance System (NDSS) has been in operation since 1997 to monitor incidence and trends and support case and outbreak management. We present the findings of an evaluation of the NDSS to ascertain the extent to which dengue fever surveillance objectives are being achieved.MethodologyWe extracted the NDSS data on all laboratory-confirmed dengue fever cases reported during 1 January 2010 to 31 December 2012 to assess and describe key system attributes based on the Centers for Disease Control and Prevention surveillance evaluation guidelines. The system’s structure and processes were delineated and operational staff interviewed using a semi-structured questionnaire. Crude and age-adjusted incidence rates were calculated and key demographic variables were summarised to describe reporting activity. Data completeness and validity were described across several variables.Conclusions/SignificanceThe NDSS for dengue fever surveillance is a robust, well maintained and acceptable system that supports the collection of complete and valid data needed to achieve the surveillance objectives. The simplicity of the system engenders compliance leading to timely and accurate reporting. Completeness of hospitalization information could be further improved to allow assessment of severity of illness. To minimize misclassification, an algorithm to accurately classify travel cases should be established.     

Case fatality among infants with congenital malformations by lethality

OBJECTIVE: Infant mortality rates continue to show that congenital anomalies are the leading cause of infant death in the United States. However, studies of factors contributing to increased mortality across different types of congenital anomalies have been limited. The objective of this study was to assess whether the likelihood of infant mortality varied by maternal race and ethnic group while considering the severity of the birth defect. METHODS: A retrospective cohort analysis was conducted using data from Colorado's statewide, population-based birth defects surveillance system (CRCSN). The cohort included infants, born between 1995 and 2000 to Colorado resident mothers, who were diagnosed with major congenital malformations stratified by degree of lethality. Multiple logistic regression was performed for each level of lethality, and included the following potential explanatory variables: maternal race/ethnicity, clinical gestation, birth weight, maternal education level, maternal age, and sex of child. RESULTS: Within the low/very low lethality cohort, maternal race/ethnicity of Black/non-Hispanic was associated with increased risk of infant mortality, OR 2.81 (1.41-5.19), as were low and very low birth weight, OR 2.21 (1.12-4.04) and 19.31 (11.84-31.01), respectively. Maternal race/ethnicity was not a significant risk factor in either high or very high lethality groups; however, the interaction between birth weight and gestational age significantly increased the risk of mortality. CONCLUSIONS: Through the use of statewide, population-based birth defects surveillance data, a disparity in infant mortality has been identified in a specific subset of the population that could be investigated further and targeted for prevention activities.     

Hirschsprung disease in a large birth cohort

The incidence of Hirschsprung disease was studied in a series of almost 700,000 consecutive livebirths in British Columbia from 1964-1982, by means of the records of a health surveillance registry that uses multiple sources of ascertainment. The estimated liveborn incidence rate for Hirschsprung disease was 1 in 4,417 livebirths (156 cases out of 689,118 livebirths). Data pertaining to sex ratio, additional anomalies, recurrence, and mortality were also analyzed over the caseload period 1952 to 1983. A total of 29.8% of cases had some additional anomaly--the majority being nonregional anomalies in other systems or more distantly in the gastrointestinal tract. Cardiovascular and gastrointestinal anomalies not a direct consequence of Hirschsprung disease were the most frequent additional anomalies found, occurring in 10 and 12 of 178 cases, respectively. Sensorineural anomalies were also frequent, occurring in 12 of 178 cases. Clinical implications arising from the study regarding the neonatal assessment of infants with these anomalies are discussed.     

Completeness and validity in a national clinical thyroid cancer database: DATHYRCA

BackgroundAlthough a prospective national clinical thyroid cancer database (DATHYRCA) has been active in Denmark since January 1, 1996, no assessment of data quality has been performed. The purpose of the study was to evaluate completeness and data validity in the Danish national clinical thyroid cancer database: DATHYRCA.Study design and settingNational prospective cohort. Denmark; population 5.5 million. Completeness of case ascertainment was estimated by the independent case ascertainment method using three governmental registries as a reference. The reabstracted record method was used to appraise the validity. For validity assessment 100 cases were randomly selected from the DATHYRCA database; medical records were used as a reference.ResultThe database held 1934 cases of thyroid carcinoma and completeness of case ascertainment was estimated to 90.9%. Completeness of registration was around or above 90% in most instances. Perfect agreement on the diagnosis of thyroid carcinoma was found, both inter- and intra-observer, and κ values of selected variables showed overall good to excellent agreement.ConclusionIn a setup with public health insurance, personal identity numbers and extended governmental databases, it is possible to establish national clinical cancer databases with a satisfactory completeness and validity. The DATHYRCA database is considered reliable in terms of describing thyroid carcinoma at a national level.     

Follow-up survey of parents of children with major birth defects in New York State

BACKGROUND: One of the objectives of the New York State birth defect surveillance system, the New York State Congenital Malformations Registry (CMR), is to identify children in need of special programs and assist prevention/intervention programs and services with evaluation. In 1999, the CMR started a statewide mass-mailing program to inform parents of children with major birth defects about programs and support groups that might be helpful to them. A follow-up survey by mail was conducted in 2002 to evaluate the usefulness of the mailing program. METHODS: The survey was mailed between September and December of 2001 to parents of children born in 2001 and reported to the CMR with selected major birth defects. Non-respondents were followed-up by telephone. RESULTS: Of the 226 eligible families, 54% (122) responded to the survey. Approximately 66% of responding parents stated that the information provided by the mailing program was helpful, and 48% had contacted and/or used the programs and services listed in the information sheets. Parents with children younger than 6 months of age at the time of mailing were more likely to find the information helpful, compared to parents with children 6 months of age or older. The majority of responding parents had contacted and/or used the Early Intervention Program. CONCLUSION: The findings from the current survey show that the statewide information-mailing program administered by CMR is helpful and useful to the families of children with major birth defects in New York State.     

Evaluation and evolution during time of prenatal diagnosis of congenital heart diseases by routine fetal ultrasonographic examination

The objectives of this study were to evaluate routine prenatal diagnosis of congenital heart diseases (CHD) by fetal ultrasound examination in a well-defined population during the period 1994-1999 and to compare these results with the results from 1979 to 1993. This study included 80,076 consecutive pregnancies of known outcome from 1994 to 1999. CHD were classified as isolated or associated when at least one other major extra-cardiac malformation was present. Only 137 out of 688 malformed fetuses with CHD without chromosomal anomalies were detected (19.9%). The sensitivity of detection varied from 61.9% for malformations such as isolated hypoplastic left heart and single ventricle, to around 7-19% for atrial and ventricular septal defects. Prenatal detection rate of CHD was 11.4% for isolated cases, and 40.2% for multiple malformed with CHD. The gestational age at discovery varied from 16 to 36 weeks. There is no upper limit for termination of pregnancies in our country; 12.3% of all pregnancies were terminated after prenatal diagnosis. However, 62% of the pregnancies with a CHD detected prenatally were terminated. The detection rate of CHD increased during time from 9.2% during the period 1979-1988 to 13.7% during the period 1990-1993 and to 19.1% during the period 1994-1999. Our study shows large variation in the prenatal detection rate of CHD. Prenatal diagnosis of CHD is significantly higher when associated malformations are present. Cardiac defects affecting the size of the ventricles have the highest detection rate. Gestational age at discovery was 20-24 weeks for the majority of associated cardiac defects. The prenatal detection rate of CHD increased during time from 1979 to 1999.