York State Congenital Malformations Registry Research Articles

EP274 - Maternal age and malformations due to vascular disruptions: a review of the New York State Congenital Malformations Registry from 1990–2016

eP274 - Maternal age and malformations due to vascular disruptions: a review of the New York State Congenital Malformations Registry from 1990–2016

Medicaid claims data to supplement Zika-related birth defects case identification

ObjectiveTo assess the use of Medicaid claims data to conduct surveillance for cases of Zika-related birth defects identified after birth among infants born in New York City (NYC).IntroductionAs a part of the Zika Birth Defects Surveillance, a national effort coordinated by the Centers for Disease Control and Prevention (CDC), NYC is conducting enhanced surveillance of all births with defects included in the congenital Zika syndrome (CZS) phenotype among infants born in NYC beginning in 2016. The intent of the project is to provide background on the prevalence of these conditions, regardless of cause. The surveillance project builds on the New York State (NYS) Congenital Malformations Registry, a passive, mandatory reporting system that relies on reporting from hospitals and providers. For the Surveillance project, potential cases of Zika-related birth defects (ZBD) are identified by hospital and administrative data of birth records with one or more of the International Classification of Diseases, 10th Revision (ICD-10) diagnostic codes associated with CZS.1 The list of included diagnostic codes was specified by the NYS registry following guidance established by CDC. Full medical record chart abstraction of the birth hospital visit of potential cases is then conducted applying further inclusion guidelines to identify ZBD cases.Recent reports of late presentation of birth defects consistent with CZS suggest that some cases are being missed due to identification and diagnosis of the condition after birth.2 As one component of a broader strategy to obtain a more accurate surveillance count, we seek to identify potential ZBD cases first diagnosed in the 6-month postpartum period using Medicaid claims data.MethodsWe will obtain Medicaid records for all infants born in NYC in 2016 from Jan 1, 2016 through June 30, 2017 using Salient, a data mining system of Medicaid data (Salient Interactive Miner, Version 5.70.079). The 85 ICD-10 diagnostic codes currently being used to identify potential ZBD cases will be applied to birth records and all outpatient and inpatient visits to a medical provider for the 6-month period after birth. All visits containing one or more of the codes from either primary or secondary diagnosis will be identified. A unique list of infants receiving one or more included diagnoses within the 6-month postpartum period will be obtained and cross-referenced with the current case list using a matching algorithm based on child’s name, date of birth, and other identifying variables.ResultsPreliminary resultsSurveillance measures to-date have identified 380 cases of infants born in NYC in 2016 with birth defects that could be due to Zika virus; it is anticipated that a majority have Medicaid. (In 2015, 59% of all births in NYC were to mothers with Medicaid.)Analysis will determine (a) the extent of overlap of cases identified from surveillance activities and Medicaid claims data, and (b) the extent of ZBD potential cases missing from surveillance but found with Medicaid data of in- and out-patient visits. Descriptive statistics will include age and class of earliest diagnosis of infants. Those identified by Medicaid analysis will be considered potential ZBD cases pending full abstraction of record.Full results pending.ConclusionsIf results indicate missed potential ZBD cases, medical chart abstraction of such cases will be warranted. Further, as CZS is a relatively new syndrome, findings may provide support in the determination of accurate follow-up time for future surveillance projects.3Full conclusion pending.

Patterns of Orofacial Clefting in New York City From 1983 to 2010: Trends by Racial Background, Birthplace, and Public Health Strategies.

To determine the role of racial background, public health initiatives, and residence on the prevalence of orofacial clefts (OFCs) in New York City (NYC). Retrospective review of OFC cases from the New York State Congenital Malformations Registry. Patients born with an OFC and all live births to mothers residing in NYC between 1983 and 2010. Orofacial cleft birth prevalence by cleft type, race, and borough of maternal residence for each year and by time period around the implementation of public health interventions including folate supplementation. A total of 3557 cases were reviewed. The prevalence remained stable for cleft palate and cleft lip with or without cleft palate (CL ± P) in sequential time periods of the study. Among CL ± P cases, cleft lip prevalence decreased early in the study compared to increases in cleft lip and palate prevalence. For most years, the prevalence of OFCs was lower among African Americans than whites. A total of 12% to 26% of mothers in 4 of the NYC boroughs deliver outside of their borough of residence, choosing to give birth in Manhattan most often. No difference in OFC prevalence was shown in any of the 5 NYC boroughs. The period prevalence remained relatively stable during the time periods before and after the implementation of folate supplementation for OFCs in NYC. Prevalence of OFC subtypes was lower for most time periods during this study among African Americans compared to whites. Several factors may explain the choice of birthplace outside of the mother's borough of residence.

Surveillance of congenital malformations in infants conceived through assisted reproductive technology or other fertility treatments

As assisted reproductive technology (ART) becomes more common, it is important to understand the associated risks. The objective of this study was to determine if congenital malformations are associated with ART or other fertility treatments in New York. In a retrospective cohort study of all live births in upstate New York from 1997 to 2005, exposure was defined using ART or other fertility treatments as noted on birth certificates. Outcomes were assessed from the New York State Congenital Malformations Registry. Specific malformations were examined to determine if there is elevated risk for exposed singleton infants compared with infants conceived naturally. The study included 7120 in the ART group, 11,890 in the other fertility treatments group and 1,118,162 in the comparison group. The relative risk for a congenital malformation was 1.43 (95% CI 1.19-1.72) for singleton infants conceived through ART compared with singleton infants conceived naturally. The specific defects associated with ART were patent ductus arteriosus, hypospadias, and obstructive defect in the renal pelvis and ureter, while spina bifida, other specific anomalies of the spinal cord, atresia or stenosis of the pulmonary valve, hypospadias, and obstructive defects of the renal pelvis and ureter were associated with other fertility treatment. Assisted reproductive technology is associated with a slight excess risk of birth defects. The specific congenital malformations with elevated risks for singleton infants vary depending on the exposure. Further research is necessary to understand the mechanism related to the increase in risk.

Population-based study to determine mortality in spina bifida: New York State Congenital Malformations Registry, 1983 to 2006.

The lifetime risk of death among individuals with spina bifida is 10-times higher compared with the general population. A population-based analysis on cause-specific mortality among individuals spina bifida is lacking. Using statewide, population-based New York Congenital Malformations Registry, we examined all births between years 1983 and 2006, and identified 1988 births with spina bifida and 10,951 births with congenital hypertrophic pyloric stenosis (CHPS). We linked registry records to birth and death files from vital records, and determined age- and cause-specific mortality for isolated and multiple spina bifida, and compared the findings with the less fatal CHPS. Mortality in spina bifida is significantly high compared with CHPS (16.9% vs. 0.96%, respectively). The probability of survival in spina bifida was lower compared with CHPS. A majority of the deaths in spina bifida occurred in infants within the first year of birth; however, an increased risk of death persisted in young adulthood for both isolated and multiple cases of spina bifida. The common causes of death in children with spina bifida were hydrocephalus, infections, cardiac anomalies, pneumonia, and pulmonary embolism; while infections, heart or kidney failure, injuries and neoplasms contributed to deaths in adults. We conclude that mortality in spina bifida is a large concern, and individuals living with the defect require improved clinical care for lethal medical complications. Primary prevention of spina bifida through mandatory folic acid fortification remains as the best strategy to reduce both disability and mortality associated with this defect across the world.

Extreme winter temperature and birth defects: A population-based case-control study

Background/objectiveWe examined the relationship between extreme winter temperatures and birth defects to determine whether pregnant women might be vulnerable to the weather extremes expected with climate change. MethodsIn this population-based, case-control study, we linked the New York State Congenital Malformations Registry to birth certificates (1992–2006). Cases were defined as live births with birth defects, and controls were selected from a 10% random sample of live births. We assigned meteorological data based on maternal birth residence and summarized universal apparent temperature across gestational weeks 3–8 (embryogenesis). We defined an extreme cold day as a day with mean temperature below the 10th percentile of the regional winter temperature distribution and a cold spell as 3 consecutive extreme cold days. We averaged temperature for each week of the first trimester to identify susceptible periods. We estimated adjusted odds ratios (ORs) and 95% confidence intervals (CIs) with multivariable logistic regression for 30 birth defects groups. ResultsAmong 13,044 cases and 59,884 controls with at least 1 week of embryogenesis in winter, coarctation of the aorta was associated with a 1°C decrease in mean universal apparent temperature (OR 1.06, 95% CI 1.02-1.11), cold spell (OR 1.61, 95% CI 1.11-2.34), and number of extreme cold days. We observed reduced odds of hypoplastic left heart syndrome and dislocated hip for some cold indicators. ConclusionsMost birth defects were not associated with cold indicators; however, we found positive associations between cold indicators and coarctation of the aorta in the biologically-relevant developmental window which warrants replication.

Prevalence and trends of selected congenital malformations in New York state, 1983 to 2007

Major birth defects result in high infant mortality and morbidity. It is important to evaluate the burden of birth defects and trends for future intervention and public health improvement. Using the New York State (NYS) Congenital Malformations Registry data, we examined the prevalence and trends of birth defects among children in NYS during 25 years of surveillance. Children who had any of the 21 selected birth defects and were born to NYS residents between 1983 and 2007 were selected. The prevalence of each defect was characterized by demographic and birth factors, and the prevalence ratio was calculated. Live births of NYS residents for the same birth year period were used as the denominators for calculating the prevalence. The prevalence trends of birth defects were analyzed by maternal age and race/ethnicity. Compared with non-Hispanic whites, we detected 33%, 21%, and 37% higher prevalence of encephalocele, lower limb deficiencies and omphalocele among non-Hispanic blacks, respectively, and 22% higher prevalence of gastroschisis among Hispanics. Increasing trends of gastroschisis and Down syndrome among non-Hispanic blacks and decreasing trends of spina bifida and limb deficiencies were observed in NYS. The findings from this study suggest the existence of racial disparities among children with selected birth defects in NYS. The increasing trends of gastroschisis and Down syndrome observed in NYS are consistent with nationwide trends.

Electronic Clinical Laboratory Reports as a Source for Ascertaining and Confirming Chromosomal Anomalies Reported to the New York State Congenital Malformations Registry

Hospitals and physicians are required to submit case reports with confirmatory diagnosis information to the New York State Congenital Malformations Registry (CMR) on children who are born or reside in New York State and are diagnosed with major birth defects. However, the majority of the cases with chromosomal anomalies indicated in the hospital discharge files are reported to the CMR without confirmatory testing data, which are usually not available at the time of reporting. To link the cytogenetic test reports, submitted by cytogenetic testing laboratories via Electronic Clinical Laboratory Reporting System (ECLRS), to the CMR cases in order to obtain confirmatory diagnoses and identify unreported cases with chromosomal anomalies. : Cytogenetic testing data, submitted by the New York State licensed laboratories, that are stored on the ECLRS Sybase server were retrieved and matched to the CMR cases. The laboratory testing results were used to confirm diagnoses of the CMR cases for matched reports and to ascertain new birth defects cases by auditing hospitals and physicians using unmatched reports with abnormal testing results. By the end of 2010, a total of 927 reports on 747 children were submitted to the CMR by 14 cytogenetic testing laboratories via the New York State Department of Health ECLRS. Among the 747 children reported, 398 children (53%) had abnormal test results and 412 children (55%) were matched to the CMR cases. From these laboratory reports, 151 new cases with chromosomal anomalies were identified, confirmed, and were added to the CMR. The additional cases accounted for about 7.8% of all cases with chromosomal anomalies in the CMR for the reporting years 2008-2010. Cytogenetic laboratory reports can serve as an important source for ascertaining and confirming chromosomal anomalies. Acquiring molecular genetics testing data directly from cytogenetic testing laboratories via ECLRS enables CMR staff to confirm diagnoses and improve the accuracy and efficiency of case reporting.

A Population-Based Case–Control Study of Extreme Summer Temperature and Birth Defects

Background: Although hyperthermia is a recognized animal teratogen and maternal fever has been associated with birth defects in humans, data on the relationship between high environmental temperatures and birth defects are limited.Objective: To determine whether pregnancies are potentially vulnerable to the weather extremes anticipated with climate change, we evaluated the relationship between extreme summer temperature and the occurrence of birth defects.Methods: We performed a population-based case–control study by linking the New York State Congenital Malformations Registry to birth certificates for the years 1992–2006. We selected nonmalformed infants from a 10% random sample of live births as controls. We assigned meteorologic data based on maternal residence at birth, summarized universal apparent temperature (UAT; degrees Fahrenheit) across the critical period of embryogenesis, and estimated adjusted odds ratios (aOR) and 95% confidence intervals (CI) with multivariable logistic regression, controlling for confounders available on the birth certificate.Results: Among 6,422 cases and 59,328 controls that shared at least 1 week of the critical period in summer, a 5-degree increase in mean daily minimum UAT was significantly associated with congenital cataracts (aOR = 1.51; 95% CI: 1.14, 1.99). Congenital cataracts were significantly associated with all ambient temperature indicators as well: heat wave, number of heat waves, and number of days above the 90th percentile. Inconsistent associations with a subset of temperature indicators were observed for renal agenesis/hypoplasia (positive) and anophthalmia/microphthalmia and gastroschisis (negative).Conclusions: We found positive and consistent associations between multiple heat indicators during the relevant developmental window and congenital cataracts which should be confirmed with other data sources.

Exploring the seasonality of birth defects in the New York State Congenital Malformations Registry

Examining seasonal patterns of birth defects may help to identify environmental risk factors. Because the teratogenic window for most birth defects is during gestational weeks 3 to 8, investigating exposures closer to the timing of conception is important. However, studies are usually based on month of birth, which is not the biologically relevant exposure period and does not account for differences in gestational length. We aimed to determine whether the occurrence of birth defects varied by month of conception using the population-based New York State Congenital Malformations Registry (CMR). We merged live birth certificates (n = 2,044,091) with CMR records for mothers residing in New York State, excluding New York City, for the years 1992 through 2006. We categorized birth defects according to the National Birth Defects Prevention Network guidelines and performed Cochran-Armitage trend, Hewitt-Rogerson, and Walter-Elwood tests on month of conception and chi-square tests on season of conception. We graphed seasonal distributions and seasonality test results. We performed stratified analyses by maternal and infant characteristics. Of 42 groups examined in the 15-year period, 24 (57%) had at least one statistically significant test result, suggesting a trend or seasonal variation: Cochran-Armitage (18), Hewitt-Rogerson (17), Walter-Elwood (4), and chi-square (5). Ventricular septal defect showed the most consistent results: Cochran-Armitage (p = 0.0006), Hewitt-Rogerson (December to May; p = 0.0130), Walter-Elwood (March 14; p = 0.0027), and chi-square (winter; p = 0.0046). Congenital cataract, pulmonary valve atresia/stenosis, coarctation of aorta, biliary atresia, and renal agenesis or hypoplasia had at least three significant tests. These results may help to generate hypotheses about environmental factors that vary by season for further studies.

A retrospective cohort study of mortality among children with birth defects in New York State, 1983–2006

Birth defects, which occur in about 3% of live births in the United States each year, have remained the leading cause of infant mortality, although the infant mortality rate in the United States has decreased significantly over the past decades. The objective of this study was to conduct a retrospective cohort study with long-term follow-up of the children in New York State Congenital Malformations Registry (CMR) for up to 24 years on their mortality status to evaluate the mortality risk of children with birth defects by age at death, birth defect category and other possible contributing factors. Children born in 1983-2006 with reportable birth defects were included in the study cohort. A sub-cohort was also constructed containing children born in 1983-2006 with selected major birth defects that are relatively severe congenital conditions identified at birth. New York State live births in 1983-2006 were used as the comparison population. The deaths among the study cohort were identified through linking CMR cases to the death certificate files. A Poisson regression model was used to calculate mortality rate ratios (mortality risk) adjusting for selected infant and maternal risk factors. Compared to children without birth defects, the overall mortality risk was 6.7 times higher for children with any of the reportable birth defects and 23.6 times higher for children with selected major birth defects. The mortality risk decreased with increasing age of children. The top 5 most significantly high mortality risks were found among infants in neonatal period with anencephaly (RR = 200.5, 95% CI:180.6-222.5) and renal agenesis/dysgenesis (RR = 69.5, 95% CI:64.2-75.2), and among children aged 1-2 years with Trisomy 18 (RR = 206.4, 95% CI:28.5-331.6), Trisomy 13 (RR = 157.3, 95% CI:83.5-296.4), and hypoplastic left heart (RR = 161.5, 95% CI:20.1-217.2). Low birth weight and gestational age, multiple malformations and high lethality of anomalies involved were the major contributors to the high risk of mortality among children with selected major birth defects compared to those without birth defects. Using the state-wide, population-based birth defects surveillance data to conduct a long-term follow-up of a large cohort of New York children, we were able to examine mortality and survival experience of the affected children during infancy and childhood period by individual birth defects of interest. As expected, children born with birth defects had a higher risk of mortality compared to children without birth defects. The magnitude of the risk varied by children's age, birth and maternal characteristics and the lethality of the specific birth defects involved.

Hospital Discharge Data

Because of the relatively high expense of collecting primary data and limited resources, electronically available, population-based hospital discharge data have been increasingly used for disease surveillance by public health researchers. The objective of this study was to compare the New York State Congenital Malformations Registry (CMR) data, which relies on hospital reports, with the hospital discharge files to identify cases in the CMR that were missed in the hospital discharge data files. The ultimate goal was to evaluate whether hospital discharge data can serve as the sole source of case ascertainment for a population-based birth defects surveillance program. CMR cases that were born to the New York State residents for the years 2000 to 2005 were selected and matched to the hospital discharge files from the New York Statewide Planning and Research Cooperative System (SPARCS) for the same birth year period. Since the SPARCS database does not contain patient's name, extensive database matching and manual review by staff members were performed using identifying variables such as the hospital's permanent facility identifier, child's date of birth and medical record number, and mother's medical record number and residential address. Out of 66 757 CMR cases selected for the study period, 62 118 cases (93.1%) were matched to SPARCS hospital discharge records with International Classification of Diseases, Ninth Revision (ICD-9) codes that were reportable to the CMR, 3 444 cases (5.2%) were matched to SPARCS records with ICD-9 codes that were not reportable to the CMR, and 1 195 cases (1.8%) were not matched. The percentage of cases with multiple congenital malformations was significantly higher (21.3%) for the matched cases that had reportable ICD-9 codes in SPARCS, compared with that for matched CMR cases that had no reportable ICD-9 codes in SPARCS (10.2%). The study found that 93% of CMR infants selected for the study were matched to hospital discharge records with at least one ICD-9 code that was reportable to the CMR; 87 percent had reportable ICD codes in SPARCS that were exactly matched to those in the CMR, that is, all the birth defect codes in SPARCS were matched to those in the CMR. Thus, about 7 percent of CMR children with birth defects would have been missed if only hospital discharge files were used to ascertain the birth defect cases, indicating that there are limitations to using hospital discharge files as the sole source of case ascertainment for population-based birth defects surveillance programs.

Racial Disparities in Mortality Among Infants With Dandy-Walker Syndrome

Congenital malformations are the major cause of infant mortality in the United States, but their contribution to overall racial disparity--a major public health concern--is poorly understood. We sought to estimate the contribution of a congenitally acquired central nervous system lesion, Dandy-Walker Syndrome (DWS), to black-white disparity in infant mortality. Data were obtained from the New York State Congenital Malformations Registry, an ongoing population-based validated surveillance system. We compared black to white infants with respect to infant, neonatal, and postneonatal mortality using Cox proportional hazards regression models. A total of 196 live-born neonates were diagnosed with DWS in the state from 1992 to 2005 inclusive. Of these, 53 were non-Hispanic black and 76 were non-Hispanic white. Neonatal mortality was similar for non-Hispanic blacks and non-Hispanic whites (adjusted hazards ratio [AHR], 1.42; 95% CI, 0.52-3.82), but non-Hispanic blacks had an 8-fold increased risk for postneonatal mortality (AHR, 8.26; 95% CI, 2.08-32.72). Adjustment for fetal growth and other maternal and infant characteristics resulted in a 10-fold increased risk of mortality for non-Hispanic black infants as compared to non-Hispanic whites. By contrast, adjustment for preterm birth attenuated the risk, but non-Hispanic black infants were still more than 6 times as likely to die during the postneonatal period than non-Hispanic whites (AHR, 6.36, 95% CI, 1.52-26.60). DWS has one of the largest black-white disparities in postneonatal survival. This underscores the importance of evaluating racial disparities in infant mortality by specific conditions in order to formulate targeted interventions to reduce disparities.

Hypospadias Rates in New York State are Not Increasing

The testicular dysgenesis syndrome describes urogenital abnormalities associated with exposure to environmental endocrine disruptors such as phthalates, specifically decreased semen quality, and increased rates of testis cancer and hypospadias. Recently there has been concern that these abnormalities described in animal studies may also be present in humans. To determine if hypospadias rates are increasing, we retrospectively reviewed the total prevalence of hypospadias in New York State from 1992 to 2005, categorized by maternal age younger than 35 years and 35 years or older. Hypospadias rates were obtained from the New York State Congenital Malformations Registry from 1992 to 2005. An analysis was also performed on the rates of children with hypospadias who had mothers younger than 35 years and mothers 35 years or older. This investigation was approved by the Columbia University internal review board. There was no statistical change in hypospadias rates in New York State from 1992 to 2005 (r = 0.127, p = 0.6). Overall the mean +/- SE prevalence rate was 34.9 +/- 0.36 per 10,000 live births. However, mean +/- SE hypospadias rates in children of mothers 35 years old or older (38.7 +/- 0.7) were significantly greater than those in children of mothers younger than 35 years (34.1 +/- 0.386, t test p <0.01). Hypospadias rates have not changed in New York State from 1992 to 2005. Additionally advanced maternal age continues to be a risk factor for hypospadias. Combined with previous studies that demonstrate sperm counts are not declining, these data suggest that the testicular dysgenesis syndrome described in animal models may not be evident in humans.

Maternal asthma, asthma medication use, and the risk of congenital heart defects

Asthma is a common problem that complicates pregnancy. Several drugs are considered acceptable for use during pregnancy, although none have been classified as safe. Few studies have assessed the health impact of maternal asthma/medication use on the fetus. A population-based case-control study was conducted in New York State to determine if cardiac congenital malformations in offspring were associated with maternal use of asthma medication and/or maternal asthma. Cases were cardiac anomalies in the New York State Congenital Malformations Registry. Controls were live births without any major birth defects randomly selected from birth certificates and frequency matched by year of birth. Data were collected through a 30 min telephone interview. Exposure was maternal asthma/medication use, maternal asthma/no medication use, no asthma/medication use, and no asthma/no medication use (reference). A total of 502 (59.4%) cases and 1,066 (53.8%) controls participated. A positive association was seen between any heart defect and women with asthma who used medication (OR 2.38; 95% CI: 1.18, 4.82). No significant associations were observed between heart defects and either women with asthma who did not use medication or women without asthma who used asthma medications. When considering types of medication used, offspring of women with asthma who used bronchodilators had an increased risk of any heart defect (OR 2.20; 95%CI: 1.05, 4.61). These results suggest that both maternal asthma status (controlled vs. uncontrolled; severe vs. mild) and asthma medication use, particularly bronchodilators, may play a role in cardiac malformations in offspring.

Development of a Web-Based Integrated Birth Defects Surveillance System in New York State

Over the past decade, the Internet has become a powerful and effective tool for public health surveillance. The objectives of this project were to develop secure Web-based applications for Birth Defects Surveillance and to integrate them into routine surveillance activities of the New York State (NYS) Congenital Malformations Registry (CMR). The Web-based applications were developed on infrastructure of New York State Health Provider Network using JAVA programming language. In addition, SAS/IntrNet software (SAS Institute Inc, Cary, NC) was also used to leverage the data analysis and processing capabilities of SAS for generating real-time reports and performing statistical and spatial analyses. Congenital Malformations Registry staff have developed and implemented a Web-based integrated birth defect surveillance system, which enables staff to routinely perform surveillance activities including monitoring the quality, timeliness, and completeness of case reporting by hospitals; matching the CMR cases to the vital records; conducting trends analysis on birth defect prevalence and mortality with data query and visualization capabilities; and performing temporal and spatial analysis. The CMR's Web-based integrated birth defects surveillance system empowers authorized users to perform routine surveillance activities using only a PC and a Web browser. This system will help NYS public health professionals and epidemiologists perform trend analyses and identify possible clusters of birth defects in space and time that may be related to environmental toxins.

Dandy-Walker Syndrome, Associated Anomalies and Survival through Infancy: A Population-Based Study

Objectives: To assess infant mortality patterns associated with Dandy-Walker syndrome (DWS) and the impact of concomitant anomalies. Methods: Data for this study were obtained from the New York State Congenital Malformations Registry, an ongoing population-based validated surveillance system. Results: The 196 cases of DWS had a high infant mortality rate (250/1,000), and the elevated risk correlated positively with additional anomalies in a dose-effect pattern (p for trend <0.01). Infants with DWS and two or more affected organ systems were about 6 times as likely to die postneonatally than their counterparts with isolated DWS [adjusted hazards ratio (AHR) = 6.01; 95% CI = 1.52–24.21]. Conclusion: This study confirms the widely held notion that DWS is a heterogeneous rather than a homogeneous entity as shown by the dissimilar infant survival patterns found.

Epidemiology of bladder and cloacal exstrophies in New york state, 1983–1999

Bladder exstrophy (BE) and cloacal exstrophy (CE) are rare birth defects that have been reported to occur in 1:30,000-50,000 and 1:200,000-400,000 live births. Disagreement exists as to whether they comprise two distinct disorders or are part of a spectrum. We examined epidemiologic trends and risk factors for BE and CE in a large population-based dataset. Potential cases were identified in the New York State (NYS) Congenital Malformations Registry. When nonspecific codes for CE were reported, narrative descriptions were reviewed for classification. Birth certificate data were analyzed with descriptive statistics and Poisson regression was used to calculate crude (PR) and adjusted prevalence ratios (aPR) and 95% confidence intervals (CI). In NYS from 1983 through 1999, 95 BE cases and 29 CE cases were identified for a live-birth prevalence of 2.1 and 0.6 per 100,000 live births. BE showed a statistically significant downward linear trend by year. Factors associated with BE included summer conception (vs. winter, aPR 2.46, CI 1.19-5.10), white, non-Hispanic maternal race/ethnicity (vs. black non-Hispanic, aPR 3.20, CI 1.20-8.52), and male sex (female vs. male, aPR 0.53, CI 0.33-0.87). Factors associated with CE included preterm low birth weight birth (aPR 14.55, CI 5.28-40.07), multiple birth (aPR 6.68, CI 1.19-23.27), non-New York City residence (aPR 3.27, CI 1.04-10.22), and female sex (aPR 2.57, CI 1.00-6.64). Infant mortality was greater in the CE group. The epidemiology suggests different risk factor patterns for BE and CE. Classification of BE and CE is difficult due to the nonspecific coding.

The relationship between congenital malformations and preterm birth

To investigate how congenital malformations (CM) are associated with preterm (PT) births. A population cohort study analyzed data from the New York State Congenital Malformations Registry to look at live births from the Lower Hudson Valley Region from 2000-2003. ICD9 codes identified all cases and types of CM in addition to cases with multiple malformations. Subjects were categorized into one of three gestational age (GA) groups. Only cases with a known GA at birth were included. Poisson regression analysis established a risk ratio for children born with a CM of being born preterm. The PT birth rate was 11.2% and the CM rate 3%. Children with a CM were more likely to be born PT (RR: 2.20; CI: 2.01-2.40), moderately preterm (RR: 1.95; CI: 1.76-2.15), and very preterm (RR: 3.45; CI: 2.95-4.04) than term. This relationship was maintained for most organ systems and malformation types evaluated when checked individually. Being born with more than one CM increased the likelihood of being born PT (OR: 1.72; CI: 1.37-2.15). Congenital malformations in children have a significant impact upon the likelihood of being born PT, and contribute significantly to the degree of prematurity.

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

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. 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. 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. 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.