The Impact of Prenatal Diagnosis of Selected Central Nervous System Anomalies for Prenatal Counselling Based on Significant Pregnancy Morbidity and Neonatal Outcomes.

BACKGROUND & OBJECTIVES: Prenatal screening and diagnostic imaging advances have led to an increased detection of CNS anomalies, including ventriculomegaly/congenital hydrocephalus (HCP), Dandy-Walker malformation (DWM), and myelomeningocele (MMC). Data on pregnancy outcomes and the impact of prenatal diagnosis on neonatal outcomes is limited. Our study aimed to provide data on obstetric and neonatal outcomes following prenatal diagnosis of one of three CNS anomalies. METHODS: A retrospective search of two databases in Alberta, Canada and NICU chart review of cases between 2001 and 2011was completed. Primary outcomes for each group were pregnancy outcome (live birth, stillbirth, and termination) and detection rate. Secondary outcomes were live and total birth prevalence, mode of delivery, GA at delivery, and length of NICU stay for inborn versus outborn patients. RESULTS: Prenatal detection rates were 91.6% (HCP), 83.4% (DWM), and 92.9 % (MMC). Termination rates were 30.2% (DWM), 34.2% (HCP), and 48.5% (MMC). Median GA (weeks, range) at diagnosis were 22 (17-38), 20 (12-37), and 20.5 (18-34) for HCP, DWM, and MMC, respectively. Rate of Caesarean section for fetal indication was 50.0%, 44.4%, and 42.9% for HCP, DWM, and MMC, respectively. Median NICU length of stay was longer for outborn patients than inborn patients and were as follows: (range) 33.0 (21-38) versus 8.5 (1-49) d (HCP), and 29 (29-57) versus 14 (2-75) d (DWM). CONCLUSION: This study provides termination rates, obstetric interventions, and NICU length of stay for prenatally-identified CNS anomalies. Collectively, this study assists prenatal counselling women with a fetus affected by a described CNS anomaly.

Congenital limb deficiencies and major associated anomalies in Alberta for the years 1980-2012.

There is a wide range of the proportion of congenital anomalies associated with limb deficiencies reported in the literature. This variation is primarily attributed to methodology and classification differences. The distribution of associated anomalies among cases with congenital limb deficiencies in Alberta born between January 1, 1980 and December 31, 2012 is described. Of the 170 cases identified, most were live born (75.3%), male (61.8%), had longitudinal limb deficiencies (78.8%), and had associated anomalies outside the musculoskeletal system (77.6%). Significant associations between the preaxial longitudinal group and the central nervous, gastrointestinal, and cardiovascular systems are reported as well as between the postaxial longitudinal group and congenital hip and foot anomalies. Probable and possible syndrome diagnoses are described for cases with recognized malformation patterns.

The prevalence of amnion rupture sequence, limb body wall defects and body wall defects in Alberta 1980-2012 with a review of risk factors and familial cases.

Prevalence rates of amnion rupture sequence, limb body wall defect, and body wall defects vary widely. Comparisons are difficult due to small case numbers and the lack of agreement of definition, classification, and pathogenesis. This study reports the prevalence of cases classified in five distinct categories. The Alberta Congenital Anomalies Surveillance System data on live births, stillbirths, and terminations of pregnancy (<20 weeks gestation) occurring between 1980 through 2012 with the ICD-10 Royal College of Paediatrics and Child Health Adaptation codes used for congenital constriction bands (Q79.80) and body wall complex (Q89.7) were reviewed. During the 33-year-study period, there were 153 eligible cases ascertained from 1,411,652 live births and stillbirths, giving a prevalence of 1.08/10,000 total births. There were more males (52%) than females (45%) and 3% were of unknown sex. The average maternal age, birth weight, and gestation was 27 years, 2,701 g, and 35 weeks, respectively. Limb deficiencies occurred in 78% of cases. Amniotic bands with limb deficiency was the most common phenotype (48%). Digital limb deficiency was the most frequent type (56%); however, cases with body wall defects had more severe types of limb deficiencies. The upper limbs only were affected more times (44%), and there was no side preference. Most cases are sporadic but a number of familial occurrences have been reported although some have insufficient documentation and others misdiagnosed. A review of putative risk factors gives conflicting results. © 2016 Wiley Periodicals, Inc.

Congenital limb deficiencies in Alberta-a review of 33 years (1980-2012) from the Alberta Congenital Anomalies Surveillance System (ACASS).

The birth prevalence of limb deficiencies in Alberta has been fluctuating. The objectives were to examine patterns and temporal trends of congenital limb deficiencies in Alberta and compare rates with those of other jurisdictions. The Alberta Congenital Anomalies Surveillance System data on live births, stillbirths, and terminations of pregnancy (<20 weeks gestation) occurring between 1980 through 2012 with the ICD-10 Royal College of Paediatrics and Child Health Adaptations codes Q71-Q73 (limb reduction defects), Q79.80 (congenital constriction bands), and Q87.24 (sirenomelia syndrome) were reviewed. Cases were classified as having amelia, transverse, longitudinal (preaxial, postaxial, central, or mixed), intercalary, split hand/split foot, complex, or other type of limb deficiency. Phenotypes were classified as associated, which included cases with a known etiology and cases with at least one other type of anomaly, or isolated. From 1980 through 2012, 795 cases were ascertained from 1,411,652 live births and stillbirths, giving a prevalence of 5.6/10,000 total births. Mixed longitudinal deficiencies were the most common (22.4%). The upper limbs (63.9%) were affected more often than the lower limbs (25.3%). Isolated limb deficiencies occurred in 43.6% of cases, 28.4% had Mendelian or other known conditions, 21.9% had multiple congenital anomalies, 5.4% had chromosome abnormalities and 0.6% were due to teratogens. The associated group, showed a significant increasing trend (P = 0.023). While the overall limb deficiency rates show very little differences across diverse populations and differing time periods, comparisons of subgroups should be made with caution, because variations in terminology and classification contribute to reported differences.

Validation of congenital anomaly coding in Canada's administrative databases compared with a congenital anomaly registry.

BACKGROUND: Congenital anomaly (CA) surveillance provides epidemiologic data that are necessary for health planning. Approaches to CA surveillance vary; however, an increasing number of jurisdictions rely on administrative health databases for case ascertainment. This study aimed to assess the validity of CA coding in three administrative databases compared with a CA registry. METHODS: A cohort of 5862 live and stillborn infants from Calgary Alberta Canada was created through linking 12 clinical and administrative databases. Diagnostic codes for all health care contacts (hospitalizations, emergency room visits, out-patient physician visits) in the first 3 months of life were examined for relevant International Classification of Disease codes. Sensitivity, positive predictive values, and kappa coefficients were calculated, and data from the Alberta Congenital Anomalies Surveillance System was used as the reference standard. RESULTS: The ability of administrative data to accurately ascertain CAs varied by data source and the specificity of the diagnosis. Consistently, hospitalization data out-performed other administrative data sources in terms of sensitivity, positive predictive values, and kappa. Kappa scores for CAs easily visible at birth ranged from moderate (0.62 for emergency room visits and 0.65 for out-patient physician claims) to good (0.83 for hospitalization data) depending on the data source. CONCLUSION: The validity of CA coding in administrative databases compared with a CA registry varies by database used and by CA studied. This has important implications for national surveillance efforts. Condition-specific validity should be assessed locally before use of these data sources for research or planning purposes.

Stability of orofacial clefting rate in alberta, 1980-2011.

Objective : To determine the prevalence and trends of orofacial clefts in Alberta (Canada) over a 33-year period (1980 through 2011) and to determine whether the trends differ for subcategories of orofacial clefts for the period from 1997 through 2011. Design : A prevalence study based on the Alberta Congenital Anomalies Surveillance System, which has multiple sources of ascertainment, capability of verification, and an upper age limit of 1 year. Inclusion : All live born and stillborn babies and fetal deaths less than 20 weeks' gestation (including terminations of pregnancy) born in Alberta of mothers who reside in Alberta. Results and Conclusions : Rates for cleft lip with or without cleft palate and cleft palate only have been very stable over the 33-year period (1980 through 2011). These rates include all clefts (isolated, syndromes, recognizable conditions, chromosomal and multiple congenital anomalies). Ascertainment of fetal deaths less than 20 weeks' gestation began in 1997. There are trends for the 1997 through 2011 cohort with a marginally significant increase for cleft lip with or without cleft palate in the isolated category and a significant decrease for cleft palate, mainly in the associated groups. The impact of folic acid fortification and/or multivitamins/folic acid supplementation reports in the literature have shown no consensus with respect to a change in the prevalence of orofacial clefts. It is unclear whether folic acid fortification has had any impact in Alberta.

Congenital heart defects and major structural noncardiac anomalies in Alberta, Canada, 1995-2002.

BACKGROUND: Although the majority of congenital heart defects (CHDs) occur in isolation, a significant number occur with noncardiac anomalies. This study determined the proportion of noncardiac anomalies among CHD cases in Alberta. METHODS: Records of infants and children born in Alberta between January 1, 1995, to December 31, 2002, were searched using multiple sources of ascertainment in addition to the Alberta Congenital Anomalies Surveillance System (ACASS) (Alberta Health and Wellness, 2012). Each case was assigned to one CHD category and was further categorized into one of the following groups: isolated CHD, syndromes, chromosomal, associations and sequences, teratogens, Mendelian, neoplasia, heterotaxy, multiple minor anomalies, and multiple major anomalies. RESULTS: Of all 3751 CHD cases (prevalence 12.42/1000 total births: confidence interval, 12.03-12.83), 75% were isolated, 10% had a chromosomal etiology, and 9% had multiple major anomalies. All other categories accounted for <2% each. The most commonly associated major noncardiac anomalies were musculoskeletal (MSK) (24%) followed by anomalies of the urinary tract (14%), gastrointestinal system (GI) (11%), and central nervous system (CNS) (11%). CONCLUSIONS: This is both a population-based and clinical study using a classification scheme that could help to determine possible etiologic factors contributing to CHD. By eliminating known etiologies such as chromosomal and single gene, future studies can focus on the remainder to evaluate possible preventive measures. The most commonly associated major noncardiac anomalies involve the MSK system, followed by the urinary, GI, and CNS systems.

Folic acid fortification and the birth prevalence of congenital heart defect cases in Alberta, Canada.

BACKGROUND: Congenital heart defects (CHDs) are the most common type of congenital anomaly. The precise etiology is unknown and the development of successful primary prevention strategies is challenging. Folic acid may have a protective role; however published results have been inconsistent. This study examines the impact of mandatory folic acid fortification (FAF) on the prevalence of CHDs. METHODS: CHD cases were ascertained using the Alberta Congenital Anomalies Surveillance System, Pediatric Cardiology Clinics, Pathology, and hospital records. The birth prevalence and odds ratios (OR) of isolated CHD cases (i.e., without noncardiac anomalies) were calculated comparing pre-FAF (1995-1997) with post-FAF (1999-2002). RESULTS: The prevalence of isolated CHD cases remained relatively unchanged when pre-FAF (9.34, 95% confidence interval [CI] 8.79-9.92) was compared with post-FAF (9.41, 95% CI, 8.93-9.91). Left ventricular outflow tract obstruction (LVOTO) decreased post-FAF (OR, 0.76; 95% CI, 0.61-0.94). Coarctation of the aorta contributed to this decline (OR, 0.55; 95% CI, 0.32-0.92). Atrial septal defect (ASD) (OR, 1.42; 95% CI, 1.13-1.80) and ASD with ventricular septal defect (OR, 1.52; 95% CI, 1.10-2.10) increased post-FAF. The remaining types of CHDs were unchanged. CONCLUSION: FAF alone does not have an impact on the prevalence of CHDs as a group and the majority of selected types of CHDs in Alberta. The decrease in LVOTO, particularly coarctation of the aorta, may be due to FAF or other environmental factors. The increase in ASD and ASD with ventricular septal defect may reflect an increase in diagnosis and ascertainment.

Congenital heart defect case ascertainment by the Alberta Congenital Anomalies Surveillance System.

BACKGROUND: Congenital heart defects (CHDs) are the most common type of congenital anomaly, with a wide range of reported birth prevalence estimates. This quality assurance study describes CHD case ascertainment by the Alberta Congenital Anomalies Surveillance System (ACASS). METHODS: ACASS data for CHD cases were compared with additional sources including the two Pediatric Cardiology clinics in Alberta, the Alberta Children's Hospital Department of Pathology, and hospital records. Cases included live births, stillbirths, and fetal deaths at less than 20 weeks' gestation born in Alberta, Canada, between 1995 and 2002. The birth prevalence of cases and chi-square linear trend analyses were calculated for specific types of heart defects for the total study period. RESULTS: The ascertainment of CHD cases by ACASS was 45%. The total prevalence of CHD cases was 5.59 per 1000 total births (TBs; 95% confidence interval [CI], 5.32-5.86) when ACASS was the only data source and increased to 12.42 per 1000 TBs (95% CI, 12.03-12.83) when all data sources were used. Although the total prevalence of CHD cases remained stable during 1995 to 2002, the prevalence of atrial septal defect (ASD) and cases with an ASD and ventricular septal defect (VSD) significantly increased. The prevalence of left ventricular outflow tract obstruction cases significantly decreased during the study period. CONCLUSIONS: Pediatric cardiology clinics are worth including as additional ascertainment sources to contribute to more accurate prevalence estimates. The significant increases of ASD and cases with both an ASD and VSD may reflect differences in diagnostic and ascertainment practices.