Cases Of Congenital Anomalies Research Articles

Spatial analysis of birth defects and proximity to unconventional natural gas developments in Texas, USA

PDS 74: Pregnancy outcomes, Exhibition Hall (PDS), Ground floor, August 26, 2019, 1:30 PM - 3:00 PM Background/Aim: The link between environmental risk factors and common birth defects is still unclear. There are concerns that unconventional natural gas developments (UNGD) may emit air pollution and contaminate drinking water, potentially leading to adverse health effects. Our objective was to investigate the spatial relationship between birth defects and UNGDs. Methods: We analyzed geocoded data for 10,957 birth defect cases and 649,132 controls born from 1999 to 2011 from the Texas Department of State Health Services (DSHS). UNGD locations were obtained from the Texas Railroad Commission (RRC) and were used to create a density raster of UNGD per km2 to estimate exposure. We used separate generalized additive models to produce maps of smoothed odds ratios (ORs) across Texas while simultaneously estimating the association of UNGD density with neural tube defects (NTDs), gastroschisis, and oral cleft birth defects adjusted for maternal age and parity. Results: UNGD density and risk of NTDs were positively associated [OR (95%CI): 1.27 (1.20, 1.34)] per increased interquartile range of UNGD density. UNGDs were inversely associated with oral cleft defects [OR (95%CI): 0.88 (0.85, 0.92)]. There was no association with gastroschisis [OR (95%CI): 1.00 (0.95, 1.06)]. Risk patterns for birth defects varied spatially across Texas. Statistically significant areas of increased ORs for NTDs and gastroschisis were identified in central or south Texas. ORs for cleft defects were elevated in north Texas. Conclusion: Study results suggest that proximity to UNGDs are associated with increased risk of NTDs in Texas. Two prior studies found possible associations between proximity to natural gas wells and prevalence of some NTDs and heart defects, but spatial distributions were not examined in those studies. Further exploration of spatial-temporal patterns associated with UNGDs may add to our understanding of birth defect risks.

EP11.08: Prenatal diagnosis of congenital heart anomalies: an 11‐year experience

To assess the possibilities of two- (2D) and three-dimensional (3D) ultrasound (US) in the prenatal diagnosis of congenital heart anomalies in a single centre. A prospective longitudinal study was performed in medical centre “Markovs”, Sofia between 01 September 2007 and 01 October 2018. Conventional 2D ultrasound combined with colour and pulsed Doppler was performed in all major cardiac planes in order to assess the type and severity of the anomaly. In addition, STIC examination was performed in all cases. The clinical relevance of each volume data set was analysed off-line with specialised software (4D View, GE Healthcare). A thorough fetal anatomy survey for exclusion of associated fetal structural abnormalities was completed in all cases. Invasive prenatal diagnosis was discussed and proposed on request. Overall 72 cases of congenital heart anomalies were identified throughout the 11-year study period – HPLV – 8, HPRV – 2, VSD – 17, AVSD – 9, TGA – 4, TOF – 6, DORV – 5, Right Ao Arch – 13, Other – 8. In 19 cases the defect was part of a larger polymalformation syndrome and in 22 cases it was associated with chromosomal abnormality. Prenatal diagnosis of congenital heart anomalies is feasible in experienced hands. 2D ultrasound combined with colour and pulsed Doppler should be the imaging modalities of choice. 3D US can provide further information in selected cases. Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.

Colecistite calculosa em situs inversus totalis: abordagem laparoscópica

Situs inversus é uma anomalia congênita rara caracterizada pela transposição dos órgãos abdominais, vísceras e vasculatura, em relação ao sentido sagital, oferecendo uma imagem chamada de “imagem no espelho”. É classificado como total quando associado à dextrocardia, enquanto o situs inversus parcial afeta apenas um ou mais órgãos. Analisar um caso de anomalia congênita rara de situs inversus totalis submetido à colecistectomia com colangiografia por abordagem laparoscópica, para tratamento de colecistite calculosa. Paciente de sexo feminino, 42 anos, apresentava episódios de dor abdominal em cólica, localizada em epigástrio e hipocôndrio esquerdo, sendo diagnosticada a colecistite calculosa em situs inversus abdominal. Com a confirmação do diagnóstico de situs inversus totalis por radiografia simples de tórax, realizou-se a colecistectomia com colangiografia videolaparoscópica. A experiência do médico no manejo instrumental e do bloco operatório da imagem espelhada do situs inversus, proporciona uma colecistectomia laparoscópica segura.

Comparative studies on mydriatic effect of tropicamide 0.8% and phenylephrin 5.0% in teenagers & geriatric people

Prospective study on the comparison of mydiriatic effect of Tropicamide 0.8% and Phenylephrine 5% in teenagers and geriatric people was carried out in suthrama Eye Hospital madanapalle, India. The main objective of this study was to compare the mydriatic effect of a combination of drug in teenagers and geriatric people. It also evaluated the ADR’s produced and the efficacy of the drug in two age groups. In this study population majority of the subjects were female in group A and male in group B. Among the whole population under study in group A and B no one has reported with any case of congenital anomalies. A number of ADR’s are reported but no serious adverse events had occurred. The study was carried out in 100 eyes ie. 50 subjects whom are divided into 2 groups based on age. The comparison of mydriatic effect was done in each group after instilling one drop of a combination of 0.08% Tropicamide and 0.5% Phenynilephrine. The pupillary size where measured before and after administration of drug and the results were compared. The results showed that there is a large difference in the normal pupil size between teenagers and geriatric people. After dilation the difference in pupil size was statistically significant among the two groups. The study concludes that the pupillary dilation produced by administering 0.8% Tropicamide and 5% Phenylephrine produces higher mydriatic effect in teenagers than geriatric people.

Estimation of the preventable proportion of congenital anomalies by selected risk factors in mothers: A case study in Iran.

Background: Worldwide, 1-6 percent of infants have at least one congenital anomaly that can lead to long-term consequences. This may have significant impacts on individuals, families, health-care systems, and societies. The aim of this study was to estimate the Population Attributable Fraction (PAF) of some congenital anomalies by three selected risk factors (obesity, diabetes and smoking) in the northwest of Iran and to estimate the number of preventable defects at birth in the population if we could reduce 50 percent of the exposure rate to these three risk factors at population level. Methods: The regional data on smoking, obesity, and diabetes were entered in Population Estimate of Attributable Fraction of Congenital Conditions Everywhere (PEACE) software developed by International Clearinghouse for Birth Defects Surveillance and Research (ICBDSR). It calculates the PAF for congenital anomalies attributed to exposure to those three risk factors. Results: This study showed that main anomalies attributed to "obesity" include Spina Bifida 40.1% (95% CI: 31.7-47.7), Hydrocephaly 26.8 (95% CI: 9.3-42.3) and Anencephaly 17.4 (95% CI: 1.6-31.9). The highest attributable defect to "smoking" was Cleft lip w/out Palate 5.8% (95% CI: 4.3-7.4), whereas for "diabetes" it was Tetralogy of Fallot 33.3 (95% CI: 17.2-49.5). A similar pattern was found when assumed in the model, the impact of 50 percent reduction in the exposure to each of the risk factors on preventable cases of birth defects in the population. Conclusion: Obesity, diabetes, and smoking in women of childbearing age increased the risk of occurrence of congenital anomalies. However, obesity and diabetes had a remarkably greater impact compared to smoking. More studies are needed to investigate the role of passive smoking as a risk factor for the occurrence of birth defects.

Risk of congenital anomalies near municipal waste incinerators in England and Scotland: Retrospective population-based cohort study

BackgroundFew studies have investigated congenital anomalies in relation to municipal waste incinerators (MWIs) and results are inconclusive. ObjectivesTo conduct a national investigation into the risk of congenital anomalies in babies born to mothers living within 10 km of an MWI associated with: i) modelled concentrations of PM10 as a proxy for MWI emissions more generally and; ii) proximity of residential postcode to nearest MWI, in areas in England and Scotland that are covered by a congenital anomaly register. MethodsRetrospective population-based cohort study within 10 km of 10 MWIs in England and Scotland operating between 2003 and 2010. Exposure was proximity to MWI and log of daily mean modelled ground-level particulate matter ≤10 μm diameter (PM10) concentrations. ResultsAnalysis included 219,486 births, stillbirths and terminations of pregnancy for fetal anomaly of which 5154 were cases of congenital anomalies. Fully adjusted odds ratio (OR) per doubling in PM10 was: 1·00 (95% CI 0·98–1·02) for all congenital anomalies; 0·99 (0·97–1·01) for all congenital anomalies excluding chromosomal anomalies. For every 1 km closer to an MWI adjusted OR was: 1·02 (1·00–1·04) for all congenital anomalies combined; 1·02 (1·00–1·04) for all congenital anomalies excluding chromosomal anomalies; and, for specific anomaly groups, 1·04 (1·01–1·08) for congenital heart defect sand 1·07 (1·02–1·12) for genital anomalies. DiscussionWe found no increased risk of congenital anomalies in relation to modelled PM10 emissions, but there were small excess risks associated with congenital heart defects and genital anomalies in proximity to MWIs. These latter findings may well reflect incomplete control for confounding, but a possible causal effect cannot be excluded.

Bifid Tongue and Cleft Palate With and Without a Tessier 30 Facial Cleft: Cases of Rare Congenital Anomalies and a Review of Management and Literature.

Congenital bifid tongue with cleft palate is a very rare malformation with different variations. We are reporting 2 cases of rare congenital bifid tongue with cleft palate in our hospital setting and their surgical management. A multidisciplinary approach, well-planned staged operations, rehabilitation, and follow-up are needed to achieve favorable outcomes.

Birth Defect and it’s Impact in Neonatal Health : A Review

Birth defects are one of the leading causes of neonatal mortality worldwide. Every year more than 8.14 million children are born with a serious birth defect. The risk factors predictive of birth defects in babies vary from country to country even from region to region. About 60% of the causes of birth defect in humans are still unknown. However, in about 25% cases, the causes seem to be “multifactorial”, indicating a complex interaction between genetic and environmental risk factors. Many studies have been conducted to determine the association of various risk factors with the incidence of birth defects. Most of them found significant association with maternal age, parity, consanguinity, poor nutrition, life style factors, low socioeconomic condition and many more. But still there is debate in certain issues like common type of birth defect, specific age of mother for having birth defect babies, role of drugs during pregnancy etc. With advancement of diagnostic tools, birth defects can be identified both prenatally and post- natally. This helps further in decision making and planning for both parents as well as physicians to provide accurate treatment in time. Major birth defect babies require intensive care and more hospitalization. Often multidisciplinary approach is essential for them. But till now birth defect cases are neglected in society. Increasing awareness about maternal care during pregnancy, educational programs on birth defect and the consequences of consanguineous marriages need to be highlighted to decrease the incidence of birth defect and their co-morbidities as well as mortality.
 Bangladesh J Child Health 2019; VOL 43 (1) :49-58

Left temporal plane growth predicts language development in newborns with congenital heart disease.

Congenital heart defects are the most common congenital anomalies, accounting for a third of all congenital anomaly cases. While surgical correction dramatically improved survival rates, the lag behind normal neurodevelopment appears to persist. Deficits in higher cognitive functions are particularly common, including developmental delay in communication and oral-motor apraxia. It remains unclear whether the varying degree of cognitive developmental delay is reflected in variability in brain growth patterns. To answer this question, we aimed to investigate whether the rate of regional brain growth is correlated with later life neurodevelopment. Forty-four newborns were included in our study, of whom 33 were diagnosed with dextro-transposition of the great arteries and 11 with other forms of severe congenital heart defects. During the first month of life, neonates underwent corrective or palliative cardiovascular bypass surgery, pre- and postoperative cerebral MRI were performed 18.7 ± 7.03 days apart. MRI was performed in natural sleep on a 3.0 T scanner using an 8-channel head coil, fast spin-echo T2-weighted anatomical sequences were acquired in three planes. Based on the principles of deformation-based morphometry, we calculated brain growth rate maps reflecting average daily growth occurring between pre- and postoperative brain images. An explorative, whole-brain, threshold-free cluster enhancement analysis revealed strong correlation between the growth rate of the Heschl's gyrus, anterior planum temporale and language score at 12 months of age, corrected for demographic variables (P = 0.018, t = 5.656). No significant correlation was found between brain growth rates and motor or cognitive scores. Post hoc analysis showed that the length of hospitalization interacted with this correlation, longer hospitalization resulted in faster enlargement of the internal CSF spaces. Our longitudinal cohort study provides evidence for the early importance of left-dominant perisylvian regions in auditory and language development before direct postnatal exposure to native language. In congenital heart disease patients, the perioperative period results in a critical variability of brain growth rate in this region, which is a reliable neural correlate of language development at 1 year of age.

Detection of BPDE-DNA adducts in human umbilical cord blood by LC-MS/MS analysis

Benzo [a]pyrene (BaP) is a model compound for the study of polycyclic aromatic hydrocarbon (PAH) carcinogenesis. Upon metabolism, BaP is metabolized to the ultimate metabolite, BaP trans-7,8-diol-anti-9,10-epoxide (BPDE), that reacts with cellular DNA to form BPDE-dG adducts responsible for BaP-induced mutagenicity, carcinogenicity, and teratogenicity. In this study, we employed our developed LC-MS/MS method to detect and quantity BPDE-dG adducts present in 42 normal human umbilical cord blood samples and 42 birth defect cases. We determined that there is no significant difference in the level of BPDE-dG formation between the normal and birth defect groups. This represents the first time to use an LC-MS/MS method to quantify BPDE-dG in human umbilical blood samples. The results indicated that under experimental conditions, BPDE-dG adducts were detected in all the human umbilical cord blood samples from the normal and birth defect groups.

Double trouble: A rare case of posterior urethral valve and Cobb's collar

Posterior urethral valves (PUV) are the most common cause of bladder outlet obstruction (BOO) in boys. Cobb's collar, a rare narrowing of the bulbar urethra, is one of the lesser-known causes of congenital urethral obstruction. We present a case of both congenital anomalies occurring concomitantly, in a preterm baby presenting with urinary ascites.

Post-war environmental pollution as a risk factor of congenital disorders in Iraq: A study review

Background: Several years of war with the recent terrorist conflicts have cumulatively affected Iraq’s land, air, water, and health infrastructure, and a substantial rise in the incidence of congenital defects has been reported in the period following the Gulf War in 1991, which was principally accredited to the environmental contamination by depleted uranium. Aim: The aim is to review some published works of literature that are specifically concerned with environmental pollution after the war in Iraq as a possible risk factor for developmental disorders. Patients and Methods: In addition to the published articles, this review includes a direct descriptive data of congenital anomalies, which was obtained from Al-Khansaa, Al-Salaam, Al-Batool Teaching Hospitals of Obstetrics and Gynecology, and General Mosul Hospital in Mosul city over a period of 12 months, starting from October 2017 to October 2018. Results: All of the research related to this topic were discussed, and most of them revealed that a higher incidence of congenital disorders was detected among people exposed directly or indirectly to post-war environmental pollution by depleted uranium (DU) and other chemical constituents. From the analysis of the scientific publications, we observed that Basrah, Baghdad, Falluja, Mosul and Al-Anbar are predominantly affected by war contamination. The study revealed that there were 317 cases of birth defects out of the 44,372 newborns delivered over a period of one year after war in Mosul; thus, the overall percentage of congenital disorders was 0.71%, and defects of the nervous system were the most prominent, among which anencephaly was the predominant condition. The highest percentage of anomalies was detected in the maternal age of 21–26 and more in female newborns. Conclusion: We must decrease parental exposure to the possible teratogens through prenatal counseling and public education about the penalties of environmental pollution in order to arrange practical guidelines for public health and to alleviate the outcome of pregnancy. Keywords: pollution, congenital, post-war,environmental, review

Coronary artery birth defects, epidemiological and clinical features: A retrospective study of 82 cases

The birth anomaly of the coronary arteries is an infrequent cardiac malformation. Its incidence is 1% among congenital heart disease, it is largely underestimated because some forms are asymptomatic. The natural evolution of this pathology depends on the type of the CBA. Between 1998 and 2017, 82 cases of birth defects of the coronary arteries were identified in the department. Retrospectively analyzed were the presence or absence of congenital heart disease, clinical presentation with the circumstances of discovery, ECG, chest X-ray, TTE, and coronary angiography data. The average age was 44.16 years, there was male predominance (63.41%). Only 10 patients had underlying congenital heart disease. Among the patients, 68.29% had at least one cardiovascular risk factor. The circumstances in which coronary birth defects were discovered were: stable angina in 21.95% of cases, acute coronary syndrome without ST in 36.6%, acute coronary syndrome with ST in 12.9% of cases and heart failure in 13.41% of cases, syncope in 1.21%. In 8.43% of patients, the discovery was fortuitous. Chest x-ray was limited, showing cardiomegaly with no specificity in 31.7% of patients. The ETT performed in all patients showed an EF low in 36.58%. At the coronary angiography, 73 patients (89.02%) had aortic birth defects distributed as follows: 31.7% with multiple ostia, 28.04% had an abnormal birth of the right or left coronary of the opposite sinus, 11 patients or 13.41% had an abnormal birth of the RC or LC from the non-coronal posterior sinus, and finally 10 cases or 12.19% of cases had a birth variation compared to the adequate valsalva sinus. Three patients had an unclassified birth defect. Nine patients have a left coronary nascent pulmonary artery. Coronary birth defects constitute a wide variety of abnormalities with very diverse clinical expressions. The birth of the left coronary from the pulmonary artery and the birth from the opposite sinus are the most productive of clinical manifestations.

Risk factors of congenital anomalies in Karbala

BACKGROUND; Congenital anomalies can be defined as structural or functional abnormalities present at birth. They are an important cause of morbidity and mortality in infants. Various risk factors have been identified as contributing factors to these defects. The objectives of the present study are to determine the frequency of different structural congenital anomalies and possible risk factors responsible for these anomalies.
 METHODS; This case - control study was carried out in the neonatal intensive care unit of Kerbala teaching hospital for children in Karbala / Iraq. The study was conducted over 18 month’s period from January 1, 2014 to May 31, 2015. All babies admitted to neonatal care unit with congenital anomalies during this period were included apart from neonate with suspicion of inborn error of metabolism and those with chromosomal abnormalities because there are no facilities for definite diagnosis of these diseases.
 Seventy seven newborns with congenital anomalies included in this study, males 47(61.04%) and females 30 (38.96%) and 100 newborn without congenital anomalies, male 59 (59%) and female 41 (41%), selected randomly as a control.
 The statistical method which used to signify the risk factors is relative risk (RR). [RR = 1 no effect, RR > 1 is a risk factor, and RR < 1 is protective]
 RESULTS; In present study, the congenital anomalies related to the cardiovascular system (CVS) were the most common 33(42.86%). Males 47(61.04%) were more commonly affected than females 30 (38.96%). Cases of congenital anomaly were found in 60 (77.92%) of multiparas, whereas 17 (22.08%) in primiparas. It has been seen that 45 (58.44%) of the mothers were 20 - 30 years old, 15 (19.48%) of the mothers were between 30 - 40 years old, and 6 (7.79%) of the mothers were over the 40 years old.
 In the present study, 54 (70.13%) mothers of babies delivered with congenital anomalies had a history of consanguinity. Also, 6 (7.79%) mothers of babies delivered with congenital anomalies had a history of diabetes mellitus. CONCLUSION; The congenital anomalies were cardiovascular system (CVS) 33(42.86%), gastrointestinal system 25 (32.47%), and central nervous system 14 (18.18%).
 
 
 
 
 
 
 
 
 
 The main risk factors were consanguinity and maternal diabetes.

Dystocia due to congenital defects in Iraqi ewes at Fallujah

The study was conducted on 14 clinical cases of congenital anomalies in Iraqi ewes out of 474 Iraqi ewes suffering from dystocia cases presented to the clinic of department of obstetrics\ College of Veterinary Medicine/ University of Fallujah and Private Clinic) during the period from 1995 to 2017. The Prevalence of anomalies was 2.95% in Iraqi ewes recorded at Fallujah. High prevalence of anomalies were observed in male in this study 9/14 (64.28%) than in female 5/14 (35.72%). Different types of congenital anomalies that leads to dystocia were arthrogryposis (4/14-28.57%), brachygnathia (4/14-28.57%), hydrocephalus (3/14-21.42%) and ascites (3/14-21-42%). Prenatal losses was noticed in all cases. The methods of treatment used to relief these cases were C.S and fetotomy.

Maternal genitourinary infections and risk of birth defects in the National Birth Defects Prevention Study.

Genitourinary infections (GUIs) are common among sexually active women. Yet, little is known about the risk of birth defects associated with GUIs. Using data from the National Birth Defects Prevention Study, a multisite, population-based, case-control study, we assessed self-reported maternal GUIs in the month before through the third month of pregnancy (periconception) from 29,316 birth defect cases and 11,545 unaffected controls. We calculated odds ratios (ORs) and 95% confidence intervals to estimate the risk of 52 major structural birth defects associated with GUIs. We also calculated risk of birth defects associated with each type of GUI: urinary tract infection (UTI) and sexually transmitted infection (STI). In our analysis, 10% (n = 2,972) of case and 9% (n = 1,014) of control mothers reported a periconceptional GUI. A GUI was significantly associated with 11 of the 52 birth defects examined (ORs ranging from 1.19 to 2.26): encephalocele, cataracts, cleft lip, esophageal atresia, duodenal atresia/stenosis, small intestinal atresia/stenosis, colonic atresia/stenosis, transverse limb deficiency, conoventricular septal defect, atrioventricular septal defect, and secundum atrial septal defect. A periconceptional UTI was significantly associated with nine birth defects (ORs from 1.21 to 2.48), and periconceptional STI was significantly associated with four birth defects (ORs ranging from 1.63 to 3.72). While misclassification of GUIs in our analysis is likely, our findings suggest GUIs during the periconceptional period may increase the risk for specific birth defects.

Congenital Malformations and Trace Metals: A Case-Control Study from Lubumbashi, DR Congo

As part of the African ‘Copperbelt’, Southern Katanga (DR Congo) has been an area of intensive mining, resulting in widespread environmental contamination. This study was initiated to address concerns about the possible causation of birth defects by toxic metals.Neonates born with a visible birth defect (cases) were recruited by systematic reporting in Lubumbashi for 2 years; controls were normal neonates from the same maternity. Within 1 day after delivery, mothers were interviewed about medical/obstetrical history, socio-economic variables, personal habits, residence and occupation. Trace metals were measured by ICP-MS in maternal urine and venous blood, umbilical cord blood and placental tissue. Congenital malformations were characterized clinically and photographs. Associations between congenital malformations and metal concentrations and variables obtained from the questionnaire are being analysed by multivariate analysis.Overall, 138 cases and 108 controls were included. The two groups were well-matched with regard to potential confounders (maternal age, parity, socio-economic status). Mining-related jobs were more prevalent (p<0.05) among fathers of cases (17%) than controls (8%). In both cases and controls, trace metals in urine and blood were substantially higher than reference values from industrially developed countries. In preliminary analyses, manganese (Mn) appeared significantly higher in cord blood and placental tissue (fetal side) from cases.This is the first study to investigate the association between environmental pollution by mining-related activities and birth defects in sub-Saharan Africa. Preliminary analyses suggest father’s work in mining and prenatal Mn exposure are associated with the occurrence of congenital malformations. Limitations of our study include a possible over-matching of cases and controls (controls were born in the same maternity as cases) and that biomonitoring data were obtained at delivery and not early in pregnancy.

Congenital Coronary Artery Anomalies and Implications.

This pictorial essay presents cases of congenital coronary artery anomalies, including congenital anomalies of origin, course, and termination. Familiarity with atypical coronary anatomy and clinical presentation may facilitate appropriate diagnosis and management, particularly as cardiac and thoracic computed tomographic utilization increases.

Epidemiology of orofacial clefts in a Danish county over 35 years – Before and after implementation of a prenatal screening programme for congenital anomalies

In 2004 the Danish National Board of Health changed its screening recommendations. Since 2005 a first trimester screening for Down syndrome and a prenatal ultrasound screening for congenital anomalies in the second trimester of pregnancy has been offered to all pregnant women.The aim of this study was to describe the prevalence of cleft lip with or without cleft palate and cleft palate in a Danish area and to describe associated anomalies and the development in prenatal diagnosis over time. The study was based on data from the EUROCAT Registry for Funen County. The registry is based on multiple data sources and includes information about live births, fetal deaths with a gestational age >20 weeks and terminations of pregnancy after prenatal diagnosis of severe fetal anomaly. The study included all fetuses/infants out of a population of 182,907 births diagnosed with orofacial clefts born between 1980 and 2014. There were 271 cases diagnosed with cleft lip with or without cleft palate and 127 cases diagnosed with cleft palate, giving a prevalence of 14.8 per 10,000 births for cleft lip with or without cleft palate and 6.9 per 10,000 births for cleft palate. There were no significant changes in prevalence over time for the two anomalies, calculated with and without inclusion of genetic and chromosomal cases. Overall 66 cases were diagnosed prenatally (17% of total). For isolated cleft lip with or without cleft palate none of the 157 cases born before 2005 were diagnosed prenatally compared to 34 of 58 cases (59%) born in 2005–2014 (p < 0.01). The proportion of liveborn infants with multiple congenital anomalies also changed after 2005 with 15% (39/266) of all liveborn infants with orofacial clefts born 1980–2004 having multiple anomalies compared to 7% (7/96) in 2005–2014 (p < 0.05).The implementation of the new screening programme in 2005 has given a major change in prenatal detection rate and reduced the proportion of liveborn infants with orofacial clefts classified as multiple congenital anomaly cases. The prevalence of cleft lip with or without cleft palate was higher than reported from many other countries.

Evaluating the impact of expanding the number of diagnosis codes reported in inpatient discharge databases on the counts and rates of birth defects.

Public health surveillance programs worldwide implement a variety of case-finding strategies, and many rely at least in part on International Classification of Diseases (ICD)-based diagnostic codes in administrative and clinical databases. Over time, state- and national-level hospital discharge databases have been expanding the number of reported diagnosis code fields. This study aimed to evaluate the impact of these expansions on frequencies and rates of major birth defects, and the classification of birth defects as isolated vs multiple. We used state-level 2006-2013 Florida Birth Defects Registry data and 2009-2012 data from a nationally representative database (Kids' Inpatient Database). We generated data under different scenarios by varying the number of diagnosis code fields available, and comparing counts and rates of major birth defects generated under each scenario. The expansion from 10 to 31 diagnosis code fields improved ascertainment by preventing the loss of 1 in every 40 birth defect cases with defect-related diagnoses appearing only in code positions 11 to 31. Although there was variation by birth defect, the largest impact of the expansion tended to occur for less severe birth defects diagnosed in sicker infants. When restricting to fewer codes, not only were fewer cases diagnosed, but more were classified as being isolated due to the inability to capture co-occurring defects. Our findings encourage additional research for other health outcomes in patients of all ages. Other disease registries rely at least in part on diagnostic codes documented by healthcare providers in their case-finding activities, irrespective of ascertainment protocols, making routine investigation of these databases essential.