Prevalence Of Major Congenital Anomalies Research Articles

Association between maternal mRNA covid-19 vaccination in early pregnancy and major congenital anomalies in offspring: population based cohort study with sibling matched analysis

ObjectiveTo examine the association between maternal mRNA covid-19 vaccination during the first trimester of pregnancy and the prevalence of major congenital anomalies in offspring.DesignPopulation based cohort study with sibling matched...

First-trimester exposure to newer antiretroviral agents and congenital anomalies in a US cohort.

To characterize associations of exposure to newer antiretroviral medications in the first trimester with congenital anomalies among infants born to persons with HIV in the United States. Longitudinal cohort of infants born 2012-2022 to pregnant persons with HIV enrolled in the Surveillance Monitoring for ART Toxicities (SMARTT) study. First-trimester exposures to newer antiretrovirals (ARVs) were abstracted from maternal medical records. Trained site staff conducted physical exams and abstracted congenital anomalies from infant medical records. Investigators classified anomalies using the Metropolitan Atlanta Congenital Defects Program classification system. The prevalence of major congenital anomalies identified by age one year was estimated for infants exposed and unexposed to each ARV. Generalized estimating equation models were used to estimate the odds ratio (OR) of major congenital anomalies for each ARV exposure, adjusting for potential confounders. Of 2034 infants, major congenital anomalies were identified in 135 [6.6%; 95% confidence interval (CI): 5.6-7.8%]. Cardiovascular ( n = 43) and musculoskeletal ( n = 37) anomalies were the most common. Adjusted ORs (95% CI) of congenital anomalies were 1.03 (0.62-1.72) for darunavir, 0.91 (0.46-1.81) for raltegravir, 1.04 (0.58-1.85) for rilpivirine, 1.31 (0.71-2.41) for elvitegravir, 0.76 (0.37-1.57) for dolutegravir, and 0.34 (0.05-2.51) for bictegravir, compared to those unexposed to each specific ARV. Findings were similar after adjustment for nucleoside/nucleotide backbones. The odds of congenital anomalies among infants with first-trimester exposure to newer ARVs did not differ substantially from those unexposed to these specific ARVs, which is reassuring. Continued evaluation of these ARVs with larger studies will be needed to confirm these findings.

Population-based prevalence study of common congenital malformations of the alimentary tract and abdominal wall in Thailand: a study using data from the National Health Security Office

BackgroundThe study aimed to estimate the prevalence of major congenital anomalies of the alimentary system and the abdominal wall in Thailand using a nationwide hospital discharge database from the National...

Major Congenital Anomalies in Korean Livebirths in 2013-2014: Based on the National Health Insurance Database.

In Korea, there have been no reports comparing the prevalence of major congenital anomalies with other countries and no reports on surgical treatment and long-term mortality. We investigated the prevalence of 67 major congenital anomalies in Korea and compared the prevalence with that of the European network of population-based registries for the epidemiological surveillance of congenital anomalies (EUROCAT). We also investigated the mortality and age at death, the proportion of preterm births, and the surgical rate for the 67 major congenital anomalies. Korean National Health Insurance claim data were obtained for neonates born in 2013-2014 and admitted within one-year-old. Sixty-seven major congenital anomalies were defined by medical diagnoses classified by International Classification of Diseases-10 codes according to the EUROCAT definition version 2014. Mortality and surgery were defined if any death or surgery claim code was confirmed until 2020. Poisson distribution was used to calculate the 95% confidence interval of the congenital anomaly prevalence. The total prevalence of the 67 major anomalies was 433.5/10,000 livebirths. When compared with the prevalence of each major anomaly in EUROCAT, the prevalence of spina bifida, atrial septal defect (ASD), congenital megacolon, hip dislocation and/or dysplasia and skeletal dysplasia were more than five times higher in Korea. In contrast, the prevalence of aortic atresia/interrupted aortic arch and gastroschisis was less than one-fifth in Korea. The proportion of preterm births was 15.7%; however, more than 40% of infants with anencephaly, annular pancreas and gastroschisis were preterm infants. Additionally, 29.2% of the major anomalies were admitted to the neonatal intensive care units at birth, and 25.6% received surgical operation. The mortality rate was 1.7%, and 78.2% of the deaths occurred within the first year of life. However, in neonates with tricuspid valve atresia and stenosis, duodenal atresia or stenosis, and diaphragmatic hernia, more than half died within their first month of life. ASD and ventricular septal defect were the most common anomalies, and trisomy 18 and hypoplastic left heart syndrome were the most fatal anomalies. All infants with aortic atresia/interrupted aortic arch and conjoined twins received surgery. The proportion of surgeries, preterm births and mortality was high in infants with major congenital anomalies. The establishment of a national registry of congenital anomalies and systematic support by national medical policies are needed for infants with major congenital anomalies in Korea.

Pattern of Major Congenital Anomalies of the Gastrointestinal Tracts among Live Neonates at Al-Mukalla,Yemen

Background: Major Congenital anomalies of the gastrointestinal tract(GIT) is a life threating condidition usually diagnosed in the neonatal period.Objective: To evaluate the prevalence of major congenital anomalies among live births at Al-Mukalla,Yemen.Patients and Methods: A hospital-based, descriptive cross sectional study was conducted during 2 years period, from January 1st 2019 to December 31th 2020 and include live neonates aged ≤ 4 weeks who were admitted with major congenital gastrointestinal anomalies. Results: The study include 62 neonates with major congenital GIT anomalies.The most common was imperforate anus in 41.9% followed by esophageal atresia with or without TEF in 24.2%, then hirschprung’s disease in 19.4%. Males are more common (61.3%) than females (38.7%).The incidence is 7.7 per 10.000 newborn. Isolated major GIT anomalies occurs in 64.5%, while associated extra -GIT anomalies occurs in 35.5% , the most common was congenital heart diseases that occurs in 17.7% of cases .The majority neonates were term in 90.3%, with birth weight ≥ 2.5 kg in 88.7%. Most mothers were < 35 years in 67.7% ,with positive parental consanguinity occurs in 37% of cases. Conclusion: High incidence of major Malformation were observed. Keywords: Congenital, anomalies, Major, gastrointestinal tracts ,Neonates , Yemen.

A silent epidemic of major congenital malformations in Tigray, northern Ethiopia: hospital-based study

Congenital malformations are defects of the morphogenesis of organs or body during the pregnancy period and are identifiable at pre- or postnatal. They are identified as the major cause of child mortality worldwide. There is a need to understand the prevalence of congenital malformations in Tigray and Ethiopia in general as surveillance data are lacking. Hence, this study was designed to investigate the burden of major congenital malformations in the Tigray Region, Northern Ethiopia. Hospital-based cross-sectional study was conducted to identify neonates with major congenital anomalies in the labor ward admitted at six major public hospitals of Tigray region, Ethiopia between January 2018 and 2019. All newborns/neonates delivered in all study hospitals during the study period were considered as the study population. The prevalence of major congenital anomalies and the distribution of each type of major congenital anomalies within total birth were calculated. Data on maternal, and newborn demographic characteristics was collected. Statistical analysis was done using SPSS and p value < 0.05 was considered significant. A total of 12,225 births and terminations were recorded in the six hospitals during the study period. Of total 12,225 births and terminations examined, 383 births had major congenital malformations and the overall prevalence of congenital malformations was 3.13% of the total births examined. Congenital anomalies (CAs) of the central nervous system specifically neural tube defects (NTDs) were the commonest anomalies in this study, found in 68.7% (263NTDs/383 CAs) of the neonates with CAs. The overall prevalence of NTDs was 2.15% (263/12,225 births) of the total births examined. Maternal factors such as women 20 years of age or younger (p < 0.0001) and women older than 35 years of age (p < 0.0001), abortion history (p < 0.0001), gravidity above 4 (p = 0.005), were more likely associated with an increased risk of babies with congenital anomalies. Fetal factors including gestational ages below 28 weeks (p < 0.0001) and above 40 weeks (p < 0.0001) were strongly associated with an increased risk of babies with congenital anomalies. However, these associated factors were not resulted from multivariable logistic regression analysis. Thus, the result might be affected by possible confounding factors. This study has shown a high prevalence of major congenital anomalies in the study community. Of the total congenital anomalies observed, most of neonates are affected with neural tube defects, a birth defect with well–established evidence having folic acid deficiency or insufficiency is the predominant cause of spina bifida and anencephaly. This just screams urgency to implement effective/mandatory/ programs to get all women of reproductive age an adequate folic acid to prevent spina bifida and anencephaly.

The prevalence and patterns of chromosome abnormalities in newborns with major congenital anomalies: A retrospective study from Saudi Arabia.

Congenital anomalies are a worldwide health problem that places a burden on the family and society. Chromosome abnormalities are one of the leading causes for congenital anomalies in newborns. Despite the remarkable development in cytogenetic services in the past years, still there are limited data from Middle East countries. The current study aimed to evaluate the prevalence and patterns of chromosomal aberrations in newborns admitted to the neonatal intensive care unit (NICU) with major congenital anomalies at Medina province in the western region of Saudi Arabia. Out of 2,541 live births, 150 newborns were selected based on the presence of major birth defects. Demographic and clinical data were collected from hospital medical records and statistically analyzed. The prevalence of major congenital anomalies was 10.7/1,000 live births (95% CI: 9.076- 12.583). The most common congenital anomalies in descending order were congenital heart disease, musculoskeletal and chromosome abnormalities. The birth prevalence of chromosome abnormalities was 4.22/1,000 live births (95% CI: 3.211-5.441). The most common chromosome abnormality was Down syndrome-nondisjunction type (66%). Advanced parental age was strongly associated with chromosome aberrations (p < 0.001) while consanguinity was evident in cases with normal karyotype (p < 0.001). High birth prevalence of chromosome abnormalities in newborns with congenital anomalies in Al Madinah was evident and advanced parental age is a potential risk factor. A local registry system for congenital anomalies is highly recommended to provide proper health services to high risk families.

Congenital Anomalies in Very-Low-Birth-Weight Infants: A Nationwide Cohort Study

Background: Management of newborn infants with congenital anomalies is challenging and requires a multidisciplinary approach. The prevalence of congenital anomalies in very-low-birth-weight infants (VLBWIs; birth weight <1,500 g) has been rarely reported. Objectives: The aim of this study was to investigate the epidemiology of congenital anomalies in VLBWIs and the association with early mortality and major morbidities. Study Design: A prospective cohort study was performed using data collected from 70 centers registered in the Korean Neonatal Network. Data from the VLBWIs with major congenital anomalies (n = 289) and the controls (n = 867), selected by 1:3 frequency matching for gestational age, were compared. Results: The overall prevalence of major congenital anomalies in VLBWIs was 34.9 per 1,000 live births (289/8,156). The top 2 ranked subgroups of congenital anomalies were the digestive system (31.7%) and congenital heart defects (27.7%), followed by chromosomal anomalies, genitourinary tract defect, central nervous system, other anomalies, undefined, and respiratory system. The group with congenital anomalies had a higher mortality (40.7%) than the control group (11.1%). Each subgroup of congenital anomalies, except for chromosomal anomalies, increased the risk of mortality, with the highest odds ratio associated with “other” anomalies, which includes hydrops fetalis and congenital diaphragmatic hernia. In the multivariate analysis, congenital anomaly was a risk factor for mortality, bronchopulmonary dysplasia, and severe-grade intraventricular hemorrhage. VLBWIs with congenital anomaly demonstrated impaired in-hospital growth as compared with the control group. Conclusion: Congenital anomaly increased the risk of in-hospital mortality and was associated with short-term neonatal morbidities in the VLBWIs.

Prevalence of Congenital Anomalies in the Japan Environment and Children's Study.

BackgroundThe aims of the present report were to estimate the prevalence of congenital anomalies (CAs) among infants in Japan using data from the Japan Environment and Children’s Study (JECS) and to evaluate the validity of CA classification within JECS.MethodsData on CAs were collected at delivery and at age 1 month from the medical records of 101,825 infants at 15 regional centers. The analyses focused on 61 CAs, selected on the basis of reported associations with environmental exposure. Prevalence per 10,000 pregnancies (including miscarriages, stillbirths, and live births) was stratified according to four reporting patterns (at delivery, at age 1 month, at either, and at both). To evaluate the accuracy of observed CA prevalence, the medical records of 179 cases from a single JECS regional center underwent independent, retrospective re-evaluation.ResultsThe prevalence of major CAs in four reporting patterns (at delivery, at age 1 month, at either, and at both) was 2.4, 2.6, 3.5, and 1.4 for myelomeningocele/spina bifida; 4.3, 4.2, 5.3, and 3.2 for cleft palate; 18.1, 17.4, 19.5, and 15.1 for cleft lip with or without cleft palate; 73.4, 100.3, 120.8, and 52.8 for congenital heart disease; and 10.5, 14.1, 15.0, and 9.6 for Down’s syndrome, respectively. In the subsample re-evaluation, CA diagnoses were confirmed for 92.7%, 93.3%, 90.5%, and 97.8% of cases in the four reporting patterns (at delivery, at age 1 month, at either, and at both), respectively.ConclusionsThe present report generated reliable data concerning the prevalence of major CAs in JECS.

Pregnancy outcomes in the omalizumab pregnancy registry and a disease-matched comparator cohort

The Observational Study of the Use and Safety of Xolair (omalizumab) during Pregnancy (EXPECT) pregnancy registry was a prospective observational study established in 2006 to evaluate perinatal outcomes in pregnant women exposed to omalizumab and their infants. This analysis compares EXPECT outcomes with those from a disease-matched population of pregnant women not treated with omalizumab. Data from a substudy of platelet counts among newborns are also presented. The EXPECT study enrolled 250 women with asthma exposed to omalizumab during pregnancy. The disease-matched external comparator cohort of women with moderate-to-severe asthma (n=1153), termed the Quebec External Comparator Cohort (QECC), was created by using data from health care databases in Quebec, Canada. Outcome estimates were age adjusted based on the maternal age distribution of the EXPECT study. Among singleton infants in the EXPECT study, the prevalence of major congenital anomalies was 8.1%, which was similar to the 8.9% seen in the QECC. In the EXPECT study 99.1% of pregnancies resulted in live births, which was similar to 99.3% in the QECC. Premature birth was identified in 15.0% of EXPECT infants and 11.3% in the QECC. Small for gestational age was identified in 9.7% of EXPECT infants and 15.8% in the QECC. There was no evidence of an increased risk of major congenital anomalies among pregnant women exposed to omalizumab compared with a disease-matched unexposed cohort. Given the observational nature of this registry, however,an absence of increased risk with omalizumab cannot be definitively established.

The Prevalence of Major Congenital Anomalies Among Live Births in Birjand, Iran

Background and Objectives: Congenital anomalies can increase the neonatal mortality rate. Infants with anomalies suffer from long-term disabilities that impose heavy burdens on their families and healthcare systems. Understanding the prevalence of congenital anomalies helps health policy-makers develop better health-related policies. This study aimed to evaluate the prevalence of major congenital anomalies among live births in Birjand city, Iran. Methods: This cross-sectional descriptive-analytical study was conducted on 6,000 infants who were born from September 23, 2015, to March 6, 2016, in the maternity departments in Birjand. Stillbirths and infants who died immediately after birth, i.e. before the assessment for anomalies, were excluded. On the first day of birth, a neonatologist or a pediatrician performed a careful physical examination for each infant to diagnose probable congenital anomalies. Appropriate diagnostic procedures were also used to confirm the diagnosis when needed. Then, data on the characteristics of infants were collected using a researcher-made checklist. The data were reported using descriptive statistics such as absolute frequency, relative frequency, mean, and standard deviation. Moreover, the Chi-square and Fisher’s exact tests were conducted using the SPSS computer program (v. 16.0) for hypothesis testing at a significance level of less than 0.05. Results: The prevalence of major congenital anomalies was 1.83 cases per 1000 live births. The prevalence rates of low birth weight and prematurity were significantly greater among infants with congenital anomalies than in their non-afflicted counterparts (45.5% vs. 15.9% and 36.4% vs. 11.1%, respectively; P < 0.05). Around 63.6% of the anomalies were among male infants and 54.5% of parents had kinship relationships. Conclusions: This study showed that the prevalence of major congenital anomalies among live births in Birjand was 1.83 cases per 1000 live births, which is less than the rates reported in other areas of Iran.

Pattern and outcome of prenatally diagnosed major congenital anomalies at a Nigerian Tertiary Hospital.

The prevalence of major congenital anomalies (CAs) shows wide variations depending on geographical location and may range from <1% to 8% and it causes between 20% and 30% of perinatal deaths. In Nigeria, the prevalence of CAs may be underestimated with the general reliance on mostly livebirths ranging between 0.5% and 2.8% exempting cases of miscarriage and abortions. The purpose of this study was to determine the epidemiologic pattern and outcome of major CAs detected prenatally at the University College Hospital, Ibadan, Nigeria, over a 4-year period. This hospital-based descriptive study highlights the prevalence and pattern of prenatally diagnosed fetal anomalies among the pregnant women who presented for routine prenatal ultrasound screening within the study period. Demographic details, associated risk factors, and fetal anomaly type in the fetuses were recorded using a prepared pro forma and were analyzed. Prenatal ultrasound screening for fetal anomalies was performed on 989 fetuses (including 15 sets of twins and 1 set of triplets) during the study period, out of which 62 (6.3%) had CAs. Of the 62 with CAs, 37 (59.7%) were major and 25 (40.3%) were minor. Majority of the fetuses with major anomalies were found among women aged 30-34 years and most were detected during the routine 18-22 weeks' anomaly scan. The major anomalies were most common in central nervous system. Nine (14.5%) pregnancies were terminated before term and 8 (29.6%) babies had different postnatal surgical interventions. Eleven (17.7%) of the fetuses with anomalies died in the perinatal period. CAs remain a major contributor to perinatal morbidity and mortality in Nigeria. Since most are idiopathic, early prenatal detection with ultrasound may facilitate improved diagnosis and the reduction of overall perinatal morbidity and mortality in the Nigerian setting.

EP08.03: Prevalence of major congenital anomalies in a tertiary care hospital in Oman (5 years' retrospective study)

EP08.03: Prevalence of major congenital anomalies in a tertiary care hospital in Oman (5 years' retrospective study)

First-trimester artemisinin derivatives and quinine treatments and the risk of adverse pregnancy outcomes in Africa and Asia: A meta-analysis of observational studies.

BackgroundAnimal embryotoxicity data, and the scarcity of safety data in human pregnancies, have prevented artemisinin derivatives from being recommended for malaria treatment in the first trimester except in lifesaving circumstances. We conducted a meta-analysis of prospective observational studies comparing the risk of miscarriage, stillbirth, and major congenital anomaly (primary outcomes) among first-trimester pregnancies treated with artemisinin derivatives versus quinine or no antimalarial treatment.Methods and findingsElectronic databases including Medline, Embase, and Malaria in Pregnancy Library were searched, and investigators contacted. Five studies involving 30,618 pregnancies were included; four from sub-Saharan Africa (n = 6,666 pregnancies, six sites) and one from Thailand (n = 23,952). Antimalarial exposures were ascertained by self-report or active detection and confirmed by prescriptions, clinic cards, and outpatient registers. Cox proportional hazards models, accounting for time under observation and gestational age at enrollment, were used to calculate hazard ratios. Individual participant data (IPD) meta-analysis was used to combine the African studies, and the results were then combined with those from Thailand using aggregated data meta-analysis with a random effects model.There was no difference in the risk of miscarriage associated with the use of artemisinins anytime during the first trimester (n = 37/671) compared with quinine (n = 96/945; adjusted hazard ratio [aHR] = 0.73 [95% CI 0.44, 1.21], I2 = 0%, p = 0.228), in the risk of stillbirth (artemisinins, n = 10/654; quinine, n = 11/615; aHR = 0.29 [95% CI 0.08–1.02], p = 0.053), or in the risk of miscarriage and stillbirth combined (pregnancy loss) (aHR = 0.58 [95% CI 0.36–1.02], p = 0.099). The corresponding risks of miscarriage, stillbirth, and pregnancy loss in a sensitivity analysis restricted to artemisinin exposures during the embryo sensitive period (6–12 wk gestation) were as follows: aHR = 1.04 (95% CI 0.54–2.01), I2 = 0%, p = 0.910; aHR = 0.73 (95% CI 0.26–2.06), p = 0.551; and aHR = 0.98 (95% CI 0.52–2.04), p = 0.603. The prevalence of major congenital anomalies was similar for first-trimester artemisinin (1.5% [95% CI 0.6%–3.5%]) and quinine exposures (1.2% [95% CI 0.6%–2.4%]). Key limitations of the study include the inability to control for confounding by indication in the African studies, the paucity of data on potential confounders, the limited statistical power to detect differences in congenital anomalies, and the lack of assessment of cardiovascular defects in newborns.ConclusionsCompared to quinine, artemisinin treatment in the first trimester was not associated with an increased risk of miscarriage or stillbirth. While the data are limited, they indicate no difference in the prevalence of major congenital anomalies between treatment groups. The benefits of 3-d artemisinin combination therapy regimens to treat malaria in early pregnancy are likely to outweigh the adverse outcomes of partially treated malaria, which can occur with oral quinine because of the known poor adherence to 7-d regimens.Review registrationPROSPERO CRD42015032371

Prevalence of Congenital Anomalies in an Indian Maternal Cohort: Healthcare, Prevention, and Surveillance Implications.

BackgroundIndia lacks a national birth defects surveillance. Data on the prevalence of congenital anomalies are available mostly from hospital-based, cross-sectional studies. This is the first cohort study from India, where 2107 women were followed till pregnancy outcome, in order to measure the prevalence and types of congenital anomalies, their contribution to neonatal mortality, implications for surveillance, and the health service needs for prevention and management.MethodsThe study followed a cohort of 2107 pregnant women till outcome which was miscarriage, termination of pregnancy, live or stillbirth, neonatal and post-neonatal mortality. Case ascertainment of congenital anomalies was done through visual examination, followed by various investigations. Rates of congenital anomaly affected births were reported per 10 000 births. Health service needs were described through retrospective analysis of events surrounding the diagnosis of a congenital anomaly.ResultsAmong 1822 births, the total prevalence of major congenital anomalies was 230.51 (170.99–310.11) per 10 000 births. Congenital heart defects were the most commonly reported anomalies in the cohort with a prevalence of 65.86 (37.72–114.77) per 10 000 births. Although neural tube defects were two and a half times less as compared to congenital heart defects, they were nevertheless significant at a prevalence of 27.44 (11.73–64.08) per 10 000 births. In this cohort, congenital anomalies were the second largest cause of neonatal deaths. The congenital anomaly prenatal diagnosis prevalence was 10.98 per 1000 births and the congenital anomaly termination of pregnancy rate was 4.39 per 1000 births.ConclusionsThis first cohort study from India establishes that the congenital anomaly rates were high, affecting one in forty four births in the cohort. The prevalence of congenital anomalies was identical to the stillbirth prevalence in the cohort, highlighting their public health importance. The results of this study identify the need for a well defined national programme with components of prevention, care and surveillance.

Prevalence of major congenital anomalies at King Fahad Medical City in Saudi Arabia: a tertiary care centre-based study.

BACKGROUND AND OBJECTIVESThe prevalence of major congenital anomalies in Saudi Arabia is a largely understudied area. Knowing the prevalence of birth defects and their trends is important in identifying potential factors that are either causative or preventative. Early antenatal diagnosis of major congenital anomalies is important for possible termination of pregnancy, fetal or neonatal. We determined the prevalence of major congenital anomalies in our hospital population since implementation of an improved screening system.PATIENTS AND METHODSThis single-centre prospective cross-sectional study was conducted in a tertiary care hospital in Riyadh. A total of 63 452 obstetrical ultrasound examinations were performed for 30 632 female Saudi obstetric patients from the period of January 2007 to December 2012.RESULTSA total of 1598 fetuses were diagnosed with major congenital anomalies, including 1064 (66.6 %) fetuses with isolated major anomalies and 534 (33.4%) fetuses with non-isolated major anomalies. The antenatal prevalence of congenital anomalies was 52.1 per 1000 pregnancies. The median maternal age at diagnosis was 29 years. The median gestational age at diagnosis was 30 weeks of gestation. Two hundred and eighty five cases (17.85%) had a previous family history of similar anomalies. The most commonly diagnosed anomalies involved the genitourinary system (652 cases). The birth prevalence of major congenital anomalies was 46.5 per 1000 live births.CONCLUSIONThe prevalence of major congenital anomalies in our hospital population appears to be higher than international prevalences, with a high recurrence rate. Environmental, nutritional and social factors may be contributing to this phenomenon.

Sex prevalence of major congenital anomalies in the United Kingdom: A national population‐based study and international comparison meta‐analysis

BackgroundThe aim of this study was to assess sex differences in major congenital anomaly (CA) diagnoses within a national population sample; to examine the influence of sociodemographic and maternal factors on these risks; and to conduct a meta-analysis using estimates from other population-based studies.MethodsWe conducted a population-based study in a United Kingdom research database of prospectively collected primary care data (The Health Improvement Network) including children born 1990 to 2009 (n = 794,169) and identified major CA diagnoses using EUROCAT (European Surveillance of Congenital Anomalies) classification. Prevalence ratios (PR) were used to estimate the risk of CA in males compared with females for any CA, system-specific subgroups and specific CA diagnoses. In a subpopulation of children whose medical records were linked to their mothers', we assessed the effect of adjusting for sociodemographic and maternal factors on sex odds ratios. PRs were pooled with measures from previously published studies.ResultsThe prevalence of any CA was 307/10,000 in males (95% CI, 302–313) and 243/10,000 in females (95% CI, 238–248). Overall the risk of any CA was 26% greater in males (PR (male: female) 1.26, 95% CI, 1.23–1.30) however there was considerable variation across specific diagnoses. The magnitude and direction of risk did not change for any specific CA upon adjustment for sociodemographic and maternal factors. Our PRs were highly consistent with those from previous studies.ConclusionThe overall risk of CA is greater in males than females, although this masked substantial variation by specific diagnoses. Sociodemographic and maternal factors do not appear to affect these risks. Birth Defects Research (Part A) 100:79–91, 2014. © 2014 Wiley Periodicals, Inc.

Smoking cessation in the first trimester reduces most obstetric risks, but not the risks of major congenital anomalies and admission to neonatal care: a population-based cohort study of 1 164 953 singleton pregnancies in Finland

BackgroundIn industrialised countries, approximately 5–20% of women smoke during pregnancy. We aim to study the association between smoking during pregnancy and adverse perinatal outcomes.MethodsA retrospective population–based cohort study using data...

Increased Prevalence of Major Congenital Anomalies in Births With Placental Abruption

To examine the association between major congenital anomalies and placental abruption. A register-based retrospective case-control study was carried out from 1987 to 2005. Data on baseline characteristics and birth outcomes were collected from three Finnish national health registers: the Medical Birth Register, National Hospital Discharge Register, and Register of Congenital Malformations. The study population consisted of 4,190 women with singleton birth and placental abruption. Three control women without placental abruption were selected for each case, matched by maternal age, parity, year of birth, and hospital district. The main outcome measure of the study was a major congenital anomaly associated with placental abruption. In total, 261 (prevalence 623/10,000) births with placental abruption and 415 (prevalence 330/10,000) control births had major congenital anomalies (odds ratio [OR] 1.92, 95% confidence interval [CI] 1.6-2.52). The association was strongest among births with growth restriction and prematurity. Adjusted analysis revealed a significant association with central nervous system anomalies (OR 2.33, 95% CI 1.29-4.23), anomalies of the eyes and ears (OR 1.82, 95% CI 1.08-3.09), cardiovascular anomalies (OR 1.78, 95% CI 1.34-2.37), respiratory anomalies (OR 3.51, 95% CI 1.56-7.90), gastrointestinal anomalies (OR 3.81, 95% CI 2.27-6.41), genitourinary anomalies (OR 2.55, 95% CI 1.73- 3.74), musculoskeletal anomalies (OR 1.67, 95% CI 1.24-2.24), and anomalies of integument (OR 3.29, 95% CI 1.20-8.98) in births complicated by placental abruption. Major congenital anomalies are twice as common among neonates born from pregnancies complicated by placental abruption compared with control pregnancies without abruption. This observation applies to several organ systems. II.

Paper 5: Surveillance of multiple congenital anomalies: Implementation of a computer algorithm in European registers for classification of cases

Surveillance of multiple congenital anomalies is considered to be more sensitive for the detection of new teratogens than surveillance of all or isolated congenital anomalies. Current literature proposes the manual review of all cases for classification into isolated or multiple congenital anomalies. Multiple anomalies were defined as two or more major congenital anomalies, excluding sequences and syndromes. A computer algorithm for classification of major congenital anomaly cases in the EUROCAT database according to International Classification of Diseases (ICD)v10 codes was programmed, further developed, and implemented for 1 year's data (2004) from 25 registries. The group of cases classified with potential multiple congenital anomalies were manually reviewed by three geneticists to reach a final agreement of classification as "multiple congenital anomaly" cases. A total of 17,733 cases with major congenital anomalies were reported giving an overall prevalence of major congenital anomalies at 2.17%. The computer algorithm classified 10.5% of all cases as "potentially multiple congenital anomalies". After manual review of these cases, 7% were agreed to have true multiple congenital anomalies. Furthermore, the algorithm classified 15% of all cases as having chromosomal anomalies, 2% as monogenic syndromes, and 76% as isolated congenital anomalies. The proportion of multiple anomalies varies by congenital anomaly subgroup with up to 35% of cases with bilateral renal agenesis. The implementation of the EUROCAT computer algorithm is a feasible, efficient, and transparent way to improve classification of congenital anomalies for surveillance and research.