Prevalence of craniosynostosis in Finland, 1987-2010: A population-based study.

BACKGROUND: Craniosynostosis is a prevalent craniofacial malformation in Finland; however, comprehensive population-based epidemiological data are limited. This study aimed to estimate the total and birth prevalence of craniosynostosis in Finland from 1987 to 2010 and examine temporal trends. METHODS: We collected the data from nationwide registers maintained by the Finnish Institute for Health and Welfare and Statistics Finland, as well as treating hospitals, encompassing live births, stillbirths, terminations for fetal anomalies, and infant deaths with suspected or diagnosed craniosynostosis or skull deformation. A craniofacial surgeon and a clinical geneticist reviewed 1878 medical records for diagnostic confirmation. RESULTS: Out of 877 craniosynostosis cases, 83% were single-suture synostoses (all live births), 10% craniosynostosis syndromes, and 7% multisutural non-syndromic synostoses. Live birth prevalence from 1987 to 2010 was 6.0/10,000 live births, ranging from 5.0/10,000 in 1987 to 7.5/10,000 in 2010. Total prevalence, including live births, stillbirths, and terminations, varied from 5.0/10,000 in 1987 to 8.0/10,000 in 2010. Sagittal synostosis was the most common synostosis, with a prevalence of 3.9/10,000 live births, followed by metopic (0.6/10,000), unicoronal (0.4/10,000), and unilambdoid (0.1/10,000) synostoses. CONCLUSIONS: The total combined prevalence of all craniosynostosis types significantly increased driven by a nonsignificant rise across all subgroups and a significant increase in the syndrome group. In live births increase was significant only within the syndrome subgroup, primarily due to an increase in Muenke syndrome patients. The rising prevalence of syndromes necessitates further investigation. Contrasting with trends in Europe, Australia, and the USA, Finland showed no significant increase in metopic craniosynostosis.

Monthly variation in univentricular heart and transposition of the great arteries - 10-year national population-based cohort study.

OBJECTIVE: Monthly variation in the total prevalence of the univentricular heart (UVH) and dextro-transposition of the great arteries (d-TGA) at gestational age 7 + 0 weeks was assessed to determine potential environmental factors, such as viral or bacterial infections, underlying the variation. STUDY DESIGN: The nationwide retrospective ten-year population-based cohort consisted of 592 733 births and 2764 terminated pregnancies due to fetal anomaly. The pre- or postnatally diagnosed cases of UVH (n = 440) and simple d-TGA (n = 127) from five national registers included live births, stillbirths, and pregnancy terminations due to fetal anomaly. We evaluated the variation in the monthly total prevalence of UVH and d-TGA at gestational age 7 + 0 weeks. The monthly variation of UVH and d-TGA was also compared with monthly variation in reported viral and bacterial infections. RESULTS: In the UVH and d-TGA, we observed significant monthly variation in total prevalence. However, we observed no correlations in the studied viral or bacterial infections and the number of cases. CONCLUSIONS: Assessing monthly variation in total prevalence at early pregnancy, including pregnancy terminations and stillbirths, and using first-trimester timing provides the most accurate information on the variation. The reasons for monthly variation remain unclear, but we observed no associations with specific viral or bacterial infections.

Perinatal and perioperative factors associated with mortality and an increased need for hospital care in infants with transposition of the great arteries: A nationwide 11-year population-based cohort.

INTRODUCTION: Newborn infants with transposition of the great arteries (d-TGA) need immediate care for an optimal outcome. This study comprised a nationwide 11-year population-based cohort of d-TGA infants, and assessed whether the implementation of a nationwide systematic fetal screening program, or other perinatal, or perioperative factors, are associated with mortality or an increased need for hospital care. MATERIAL AND METHODS: The national cohort consisted of all live-born infants with simple d-TGA (TGA ± small ventricular septal defect, n = 127) born in Finland during 2004-2014. Data were collected from six national registries. Prenatal diagnosis and perinatal and perioperative factors associated with mortality and length of hospitalization were evaluated. RESULTS: Preoperative mortality was 7.9%, and the total mortality was 8.7%. The prenatal detection rate increased after introducing systematic fetal anomaly screening from 5.0% to 37.7% during the study period (P < .0001), but the total mortality rate remained unchanged. All prenatally diagnosed infants (n = 27) survived. Lower gestational age (odds ratio 0.68, P = .012) and higher maternal age at birth (odds ratio 1.16, P = .036) were associated with increased mortality in multivariable analysis. Older infant age at time of operation (P = .002), longer aortic clamp time (P < .001), and higher maternal body mass index (P = .027) were associated with longer initial hospital stay. An extended need for hospital care during the first year of life was multi-factorial. CONCLUSIONS: In our cohort, none of the prenatally diagnosed d-TGA infants died. As a result of the limited prenatal detection rates, however, the sample size was insufficient to reach statistical significance. The d-TGA infants born with lower gestational age and to older mothers had increased mortality.

Hypospadias Prevalence and Trends in International Birth Defect Surveillance Systems, 1980-2010.

BACKGROUND: Hypospadias is a common male birth defect that has shown widespread variation in reported prevalence estimates. Many countries have reported increasing trends over recent decades. OBJECTIVE: To analyze the prevalence and trends of hypospadias for 27 international programs over a 31-yr period. DESIGN, SETTING, AND PARTICIPANTS: The study population included live births, stillbirths, and elective terminations of pregnancy diagnosed with hypospadias during 1980-2010 from 27 surveillance programs around the world. OUTCOME MEASUREMENTS AND STATISTICAL ANALYSIS: We used joinpoint regression to analyze changes over time in international total prevalence of hypospadias across programs, prevalence for each specific program, and prevalence across different degrees of severity of hypospadias. RESULTS AND LIMITATIONS: The international total prevalence of hypospadias for all years was 20.9 (95% confidence interval: 19.2-22.6) per 10000 births. The prevalence for each program ranged from 2.1 to 39.1 per 10000 births. The international total prevalence increased 1.6 times during the study period, by 0.25 cases per 10000 births per year (p<0.05). When analyzed separately, there were increasing trends for first-, second-, and third-degree hypospadias during the early 1990s to mid-2000s. The majority of programs (61.9%) had a significantly increasing trend during many of the years evaluated. Limitations include known differences in data collection methods across programs. CONCLUSIONS: Although there have been changes in clinical practice and registry ascertainment over time in some countries, the consistency in the observed increasing trends across many programs and by degrees of severity suggests that the total prevalence of hypospadias may be increasing in many countries. This observation is contrary to some previous reports that suggested that the total prevalence of hypospadias was no longer increasing in recent decades. PATIENT SUMMARY: We report on the prevalence and trends of hypospadias among 27 birth defect surveillance systems, which indicate that the prevalence of hypospadias continues to increase internationally.

Estimating Global Burden of Disease due to congenital anomaly: an analysis of European data.

OBJECTIVE: To validate the estimates of Global Burden of Disease (GBD) due to congenital anomaly for Europe by comparing infant mortality data collected by EUROCAT registries with the WHO Mortality Database, and by assessing the significance of stillbirths and terminations of pregnancy for fetal anomaly (TOPFA) in the interpretation of infant mortality statistics. DESIGN, SETTING AND OUTCOME MEASURES: EUROCAT is a network of congenital anomaly registries collecting data on live births, fetal deaths from 20 weeks' gestation and TOPFA. Data from 29 registries in 19 countries were analysed for 2005-2009, and infant mortality (deaths of live births at age <1 year) compared with the WHO Mortality Database. Eight EUROCAT countries were excluded from further analysis on the basis that this comparison showed poor ascertainment of survival status. RESULTS: According to WHO, 17%-42% of infant mortality was attributed to congenital anomaly. In 11 EUROCAT countries, average infant mortality with congenital anomaly was 1.1 per 1000 births, with higher rates where TOPFA is illegal (Malta 3.0, Ireland 2.1). The rate of stillbirths with congenital anomaly was 0.6 per 1000. The average TOPFA prevalence was 4.6 per 1000, nearly three times more prevalent than stillbirths and infant deaths combined. TOPFA also impacted on the prevalence of postneonatal survivors with non-lethal congenital anomaly. CONCLUSIONS: By excluding TOPFA and stillbirths from GBD years of life lost (YLL) estimates, GBD underestimates the burden of disease due to congenital anomaly, and thus declining YLL over time may obscure lack of progress in primary, secondary and tertiary prevention.

Congenital diaphragmatic hernia with heart defect has a high risk for hypoplastic left heart syndrome and major extra-cardiac malformations: 10-year national cohort from Finland.

INTRODUCTION: Congenital diaphragmatic hernia (CDH) has a well-known risk of congenital heart defects with poor prognosis. This study was conducted to determine the national total prevalence and prenatal detection rates of CDH with heart defects and its association with major extra-cardiac malformations and to further evaluate the impact of the heart defect severity on survival. MATERIAL AND METHODS: A 10-year national cohort was derived from four national registries, including live births, stillbirths, and terminations of pregnancy for fetal anomalies. The study cohort was sorted according to cardiac defect severity. RESULTS: The total prevalence of CDH with heart defects was 0.6/10 000 births and live birth prevalence 0.3/10 000 live births. Of 145 cases with CDH, 37 (26%) had a concurrent heart defect. The overall prenatal detection rate of heart defects was 41%. The total prevalence (483/10 000) and live birth prevalence (500/10 000) of hypoplastic left heart syndrome were 124 and 250 times higher than in the general population in Finland, respectively. Additional major extra-cardiac malformations were found in 68% of cases. The survival rate for CDH with major heart defects was 11 and 38% with minor heart defects. CONCLUSIONS: The total prevalence of hypoplastic left heart syndrome was significantly higher in CDH patients than in the general population in Finland. Prenatal detection rate for heart defects in CDH patients was 41%. Major extra-cardiac malformations were more common than previously reported. The prognosis of CDH with major heart defects remained poor.

Pediatric ocular disorders and visual handicap in Finland - what do the registers tell?

INTRODUCTION: There is no published data from the last few years on the frequency of pediatric ocular disorders and visual handicap in Finland. METHODS: We surveyed the registers of THL (National Institute for Health and Welfare) and statistics of Kela (The Social Insurance Institution of Finland). RESULTS: The majority of visual defects are neurologic or congenital. Retinopathic lesions were reported in 11% of small premature infants. In the years from 1993 to 2011, significant abnormalities of the eye or its accessory organs were on the average registered annually in 94 liveborn infants, and the number of corresponding cancers was less than five. CONCLUSIONS: Ocular disorders in children are rare. They are significant because of the special attention required in everyday life.

Maternal Antibodies to Herpes Virus Antigens and Risk of Gastroschisis in Offspring.

Gastroschisis risk is highest in offspring of young women and is increasing in prevalence, suggesting that exposures that are increasingly common among younger females may be causal. Some infections by viruses in the herpes family are more common in the earlier childbearing years and have been increasing in prevalence over time. Data from the Finnish Maternity Cohort were linked to Finnish malformation and birth registers (1987-2012) for this study, a nested case-control study of mothers of offspring with gastroschisis and age-matched controls. Maternal antibody responses in early pregnancy (mean gestational age = 11.1 weeks) to Epstein Barr virus (EBV), herpes simplex virus types 1 and 2 (HSV-1 and HSV-2), and cytomegalovirus were measured. Conditional logistic regression models were used to estimate odds ratios (and 95% confidence intervals) for high immunoglobulin reactivity. Odds ratios for high immunoglobulin M (IgM) reactivity to EBV-viral capsid antigen and HSV-1 or HSV-2 (as indicators of recent infection) were 2.16 (95% confidence interval (CI): 0.97, 4.79) and 1.94 (95% CI: 0.74, 5.12), respectively. For higher immunoglobulin G (IgG) reactivity to EBV-viral capsid antigen and HSV-2 IgG, odds ratios were 2.16 (95% CI: 0.82, 5.70) and 2.48 (95% CI: 1.50, 4.10), respectively. Reactivities to HSV-1 IgG, cytomegalovirus IgM, or cytomegalovirus IgG did not appear to increase gastroschisis risk. Primary EBV infection was not associated with gastroschisis, but observed associations with both IgM and IgG reactivities to EBV and HSV suggest that reactivations may be risk factors for it.

Assays of Gamma-Glutamyl Transferase and Carbohydrate-Deficient Transferrin Combination from Maternal Serum Improve the Detection of Prenatal Alcohol Exposure.

BACKGROUND: Alcohol use during pregnancy leads to detrimental effects on fetal development. As self-reports by mothers are known to be unreliable for assessing prenatal alcohol exposure, there is a need for sensitive and specific biomarkers for identifying those at risk for alcohol-affected offspring. METHODS: We measured serum gamma-glutamyl transferase (GGT), carbohydrate-deficient transferrin (CDT), a mathematically formulated combination of GGT and CDT (GGT-CDT), and ethylglucuronide (EtG) concentrations from 1,936 mothers with a positive (n = 480) or negative (n = 1,456) history of alcohol use at the time of pregnancy. The material included 385 alcohol-abusing mothers who subsequently gave birth to children with fetal alcohol syndrome (FAS) and 1,551 mothers without FAS children including 95 women who reported a median of 1.0 standard drinks of alcohol per day during pregnancy and 1,456 nondrinking controls. Among those without FAS outcome, there were 405 mothers with gestational diabetes mellitus (GDM) and 745 mothers representing lifelong abstainers. RESULTS: Mothers of FAS children had higher mean GGT, CDT, GGT-CDT, and EtG levels than abstainers (p < 0.001 for all comparisons) or mothers reporting some alcohol consumption but whose children were not diagnosed with FAS (p < 0.001 for all comparisons). In receiver operating characteristic analyses using cutoffs based on abstainers, the area under the curves (AUCs) for GGT-CDT (0.873) were higher than those of GGT (0.824), CDT (0.776), or EtG (0.584) for differentiating the mothers of FAS children and abstainers. Unlike CDT, this combination marker also differed significantly between drinking mothers without FAS outcome and abstainers (AUC = 0.730, p < 0.001). In comparisons adjusted for GDM and body mass index, the group of mothers who had reported a median of 1.0 standard drinks of alcohol per day during pregnancy also differed from the group reporting no current alcohol intake in GGT (p < 0.02) and GGT-CDT (p < 0.01) levels. CONCLUSIONS: Combination of GGT and CDT improves the identification of prenatal alcohol exposure and associated high-risk pregnancies. A more systematic use of biomarkers may help intervention efforts to prevent alcohol-induced adverse effects on fetal development.

Risk for congenital anomalies in offspring of childhood, adolescent and young adult cancer survivors.

Offspring of cancer survivors (CS) may be at risk for congenital anomalies due to the mutagenic therapies received by their parents. Our population-based cohort study aimed to investigate the risk for congenital anomalies in offspring of CS compared to offspring of their siblings. Using the Finnish Cancer Registry, Central Population Register, and Hospital Discharge Register, we identified hospital contacts due to congenital anomalies in 6,862 offspring of CS (early-onset cancer between 1953 and 2004) and 35,690 offspring of siblings. Associations between congenital anomalies and cancer were evaluated using generalized linear regression modelling. The ratio of congenital anomalies in offspring of CS (3.2%) was slightly, but non-significantly, elevated compared to that in offspring of siblings (2.7%) [prevalence ratio (PR) 1.07, 95% confidence interval (CI) 0.91-1.25]. When offspring of childhood and adolescent survivors (0-19 years at cancer diagnosis) were compared to siblings' offspring, the risk for congenital anomalies was non-significantly increased (PR 1.17, 95% CI 0.92-1.49). No such increase existed for offspring of young adult survivors (20-34 years at cancer diagnosis) (PR 1.01, 95% CI 0.83-1.23). The risks for congenital anomalies were elevated among offspring of CS diagnosed with cancer in the earlier decades (1955-1964: PR 2.77, 95% C I 1.26-6.11; and 1965-1974: PR 1.55, 95% C I 0.94-2.56). In our study, we did not detect an overall elevated risk for congenital anomalies in offspring of survivors diagnosed in young adulthood. An association between cancer exposure of the parent and congenital anomalies in the offspring appeared only for those CS who were diagnosed in the earlier decades.

Fetal Alcohol Syndrome and Maternal Alcohol Biomarkers in Sera: A Register-Based Case-Control Study.

BACKGROUND: Fetal alcohol syndrome (FAS) is a well-known consequence of prenatal alcohol exposure. However, women tend to deny or underreport their alcohol use during pregnancy. The aim of this study was to explore the usability of various alcohol biomarkers for FAS screening in a data set without information on self-reported alcohol use. METHODS: A nationwide register study with a case-control design was conducted. The target population consisted of all live births in Finland from 1987 to 2005. FAS cases (n = 565) were identified from the Finnish Register of Congenital Malformations. Mothers of FAS cases and their controls were selected in a ratio of 1 to 2 from the Finnish Maternity Cohort (FMC). Background information was obtained from the Finnish Medical Birth Register. Serum samples, collected at the mother's first visit to the maternity care, were obtained from the national FMC biobank. Biomarkers of alcohol consumption, gamma-glutamyltransferase (GGT), carbohydrate-deficient transferrin (%CDT), combination of GGT and CDT (GGT-CDT), and ethylglucuronide (EtG) were analyzed from mothers of FAS cases (n = 385) and their controls (n = 745). RESULTS: Median levels of all biomarkers were significantly higher among the mothers of FAS children than in control mothers. Using previously validated cutoffs for EtG, GGT, %CDT, and GGT-CDT, nearly half (46%) of the mothers with affected offspring could be identified. The predictive association was highest for GGT-CDT combination and significant also for all the other biomarkers. CONCLUSIONS: In this explorative case-control study, we demonstrate that the FMC biobank can be used to screen alcohol biomarkers for epidemiological research purposes. According to our results, the use of alcohol biomarkers during the first trimester may help to identify the high-risk pregnancies for FAS. A more systematic use of alcohol biomarkers at maternity care may open new possibilities for screening and intervention of alcohol use among pregnant mothers.

Long term trends in prevalence of neural tube defects in Europe: population based study.

STUDY QUESTION: What are the long term trends in the total (live births, fetal deaths, and terminations of pregnancy for fetal anomaly) and live birth prevalence of neural tube defects (NTD) in Europe, where many countries have issued recommendations for folic acid supplementation but a policy for mandatory folic acid fortification of food does not exist? METHODS: This was a population based, observational study using data on 11,353 cases of NTD not associated with chromosomal anomalies, including 4162 cases of anencephaly and 5776 cases of spina bifida from 28 EUROCAT (European Surveillance of Congenital Anomalies) registries covering approximately 12.5 million births in 19 countries between 1991 and 2011. The main outcome measures were total and live birth prevalence of NTD, as well as anencephaly and spina bifida, with time trends analysed using random effects Poisson regression models to account for heterogeneities across registries and splines to model non-linear time trends. SUMMARY ANSWER AND LIMITATIONS: Overall, the pooled total prevalence of NTD during the study period was 9.1 per 10,000 births. Prevalence of NTD fluctuated slightly but without an obvious downward trend, with the final estimate of the pooled total prevalence of NTD in 2011 similar to that in 1991. Estimates from Poisson models that took registry heterogeneities into account showed an annual increase of 4% (prevalence ratio 1.04, 95% confidence interval 1.01 to 1.07) in 1995-99 and a decrease of 3% per year in 1999-2003 (0.97, 0.95 to 0.99), with stable rates thereafter. The trend patterns for anencephaly and spina bifida were similar, but neither anomaly decreased substantially over time. The live birth prevalence of NTD generally decreased, especially for anencephaly. Registration problems or other data artefacts cannot be excluded as a partial explanation of the observed trends (or lack thereof) in the prevalence of NTD. WHAT THIS STUDY ADDS: In the absence of mandatory fortification, the prevalence of NTD has not decreased in Europe despite longstanding recommendations aimed at promoting peri-conceptional folic acid supplementation and existence of voluntary folic acid fortification. FUNDING, COMPETING INTERESTS, DATA SHARING: The study was funded by the European Public Health Commission, EUROCAT Joint Action 2011-2013. HD and ML received support from the European Commission DG Sanco during the conduct of this study. No additional data available.

High risk for major nonlimb anomalies associated with lower-limb deficiency: a population-based study.

BACKGROUND: The aims of this study were to determine the prevalence of congenital lower-limb reduction defects and associated mortality, to evaluate lower-limb deficiencies by type of reduction, and to identify patterns of associated anomalies. METHODS: We conducted a population-based study with use of data from the Finnish Register of Congenital Malformations and Care Register for Health Care. All cases of lower-limb deficiency among live births, stillbirths, spontaneous abortions, and terminations of pregnancy due to fetal anomalies from 1993 to 2008 were included. We analyzed medical records and classified lower-limb reduction defects. Associated major anomalies were recorded, and perinatal mortality and infant mortality were calculated. RESULTS: Two hundred and sixty-six cases with lower-limb deficiency were identified, with a total prevalence of 2.8 per 10,000 births, a birth prevalence of 2.2 per 10,000 births, and a live-birth prevalence of 2.1 per 10,000 live births. Terminal transverse limb reductions accounted for 44.7% of the cases; longitudinal reductions, 22.9%; intercalary reductions, 7.9%; multiple reductions, 8.3%; and split-foot malformations, 4.5%. In addition to lower-limb deficiency, 47.7% of the cases had other major anomalies; anomalies of internal organs were noted in 26.3% of the cases, anomalies of the axial skeleton in 13.5% of cases, and central nervous system anomalies in 12.8%. Upper-limb reductions were observed in 32.0% of the cases. The relative risk (RR) for associated major anomalies was 12.54 (95% confidence interval [CI], 11.06 to 14.23) compared with the general figures for major congenital anomalies in Finland. The RR for associated anomalies was higher (1.75; 95% CI, 1.20 to 2.53) for longitudinal preaxial lower-limb deficiencies than for the other types of lower-limb reductions. Perinatal mortality was seventy-eight per 1000 births. All infant deaths were associated with chromosomal abnormalities, other known syndromes, or additional congenital malformations. CONCLUSIONS: Nearly half of the cases with lower-limb deficiencies were found to have other major anomalies. In cases of preaxial lower-limb deficiencies, the risk for associated major anomalies was highest.

Increased prevalence of major congenital anomalies in births with placental abruption.

OBJECTIVE: To examine the association between major congenital anomalies and placental abruption. METHODS: 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. RESULTS: 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. CONCLUSIONS: 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. LEVEL OF EVIDENCE: II.

Effects of maternal epilepsy and antiepileptic drug use during pregnancy on perinatal health in offspring: nationwide, retrospective cohort study in Finland.

INTRODUCTION: Perinatal health outcomes other than major congenital anomalies in offspring of women with epilepsy (WWE) have not been widely studied, and results of previous studies are conflicting and are mostly based on small numbers. Antiepileptic drugs (AEDs) pass through the placenta and may affect neonatal outcome. METHODS: This register-based study is based on information on all pregnancies ending in birth in Finland between 1996 and 2008. The data were obtained from the Finnish national health registers with data linkages based on the unique personal identification numbers. Information on maternal epilepsy diagnosis, AED purchases and other background factors was obtained to evaluate data on perinatal and infant health for all singleton births (n = 751,139). Drug purchases were considered to be an indicator for drug use. The outcomes included mode of delivery (vaginal birth or Caesarean section), preterm birth, low birth weight, weight for gestational age, low Apgar score, need for respiratory treatment, admission to neonatal care unit, perinatal death and infant death. RESULTS: In total, 4,867 (0.6 %) infants (including live births and stillbirths) were exposed to maternal epilepsy. More than half of the offspring of WWE were exposed to AED (n = 3,067, 63.0 %) during pregnancy or 1 month prior to and/or during pregnancy, and mostly in monotherapy (n = 2,566, 83.7 %). The most commonly used AED was carbamazepine (n = 1,292, 42.1 %; mostly in monotherapy 83.9 %). WWE were more likely to smoke and to have previous miscarriages, lower socioeconomic status, and more co-morbidity than the reference women with no epilepsy diagnosis and no AED use (WOE). A slightly increased risk for most of the perinatal health outcomes was found in offspring of WWE in relation to offspring of WOE (adjusted odds ratio [aOR] 1.19, 95 % CI 1.04-1.36 for low 5-min Apgar score to aOR 2.10, 95 % CI 1.57-2.81 for needing respiratory care). The risks increased by the number of different maternal AEDs used. In relation to offspring of WWE with no AED exposure (n = 1,800), a slightly increased risk for treatment in a neonatal care unit (aOR 1.48, 95 % CI 1.21-1.82) was observed for offspring of WWE on AED therapy. CONCLUSIONS: Offspring of WWE have a slightly increased risk for adverse pregnancy-related and perinatal health outcomes when compared with WOE, and AED exposure further increases the risk. The results should be interpreted with caution, as information on type of epilepsy was unavailable.

High prevalence of sacrococcygeal teratoma in Finland - a nationwide population-based study.

AIM: The birth prevalence of sacrococcygeal teratoma (SCT) has been reported to range from 1:27 000 to 1:40 000. We assessed the population-based prevalence and clinical presentation of SCT over 22 years. METHODS: We identified all cases of SCT, including live births, stillbirths and terminations of pregnancy (TOPs), in the Finnish Register of Congenital Malformations, covering 1987-2008. Data on prenatal diagnoses, pregnancy outcomes, infant deaths and associated anomalies were collected. RESULTS: One hundred and twenty four SCT cases were identified among 1 331 699 pregnancies. There were 89 (72%) live births, 13 (10%) stillbirths and 22 (18%) TOPs. The total prevalence of SCT was 1:10 700. Tumours were detected in utero in 55% of the pregnancies with SCT. The proportion of perinatal deaths among all SCT births was 28%. Thirty percentage of the cases had associated abnormalities (mainly of the urinary tract and various syndromes). CONCLUSION: This nationwide, population-based study on SCT shows that the total and birth prevalence of SCT in Finland is markedly higher than previously reported. This may reflect true differences between populations, but may also be explained by accurate nationwide registration of SCTs. The high perinatal mortality rate has an impact on counselling of families and planning of deliveries.

Characteristics and associated anomalies in radial ray deficiencies in Finland--a population-based study.

Upper-limb defects with deficiencies of the radial ray have varying etiologies, with a low proportion of true Mendelian disorders. We carried out a population-based study to elucidate the birth prevalence and clinical spectrum of radial ray deficiencies in Finland. We identified all births with radial ray deficiency reported to the Finnish Register of Congenital Malformations in 1993-2005. Altogether 138 cases were identified (123 live births), with a birth prevalence of 1.83 per 10,000 births and a live birth prevalence of 1.64 per 10,000 live births. The proportion of infant deaths was as high as 35%. The majority of the cases were associated with known syndromes or multiple anomalies; only 13% were true isolated radial ray deficiencies. The most common syndrome was trisomy 18, and the most common in multiple anomalies was VACTERL association. In 8.7% of cases an association between radial ray deficiency and heart anomaly was observed. The high proportion of cases with associated major anomalies indicates that radial ray deficiency can be regarded isolated only after thorough assessment of the various organ systems in an affected infant.

[Prenatal screening and diagnosis of severe congenital heart defects in Finland]. / Synnynnäisten sydänvikojen raskaudenaikainen seulonta ja diagnostiikka.

INTRODUCTION: Careful investigation of the heart for finding structural heart defects is an essential part of nationwide fetal anomaly screening at 20th weeks of gestation which took effect in 2010. PATIENTS AND METHODS: We studied the results of fetal cardiac screening in infants having a major congenital cardiac defect in 2005-2011. RESULTS: 28% of severe cardiac defects were detected prenatally. Univentricular heart defects were prenatally found in 87% of all cases. Screening for transposition of great arteries and conotruncal defects remains challenging. CONCLUSIONS: More active approach with a rapid referral is recommended for abnormal cardiac findings in fetal structural screening.

Decreasing perinatal mortality in placental abruption.

OBJECTIVE: To study perinatal mortality associated with placental abruption. DESIGN: Retrospective population study using the Finnish Hospital Discharge Register and Medical Birth Register data. SETTING: Finland, 1987-2005. POPULATION: Pregnancies with placental abruption and all other births without placental abruption. METHODS: The national Hospital Discharge Register and Medical Birth Register were used to identify all pregnancies with placental abruption. Demographic data and delivery outcomes were collected retrospectively. Perinatal mortality associated with placental abruption was compared with that in other births. Potential risk factors were analysed. MAIN OUTCOME MEASURES: Perinatal mortality in placental abruption. RESULTS: The study consisted of 618 735 women with 1.14 million pregnancies, 4336 of whom had placental abruption. Overall perinatal mortality with abruption was 119 per 1000 births. Placental abruption explained 7% of all perinatal deaths. The mortality among singleton births (125 per 1000) was higher than among multiple births (40 per 1000). The majority of deaths (77%) occurred in utero. Singleton perinatal mortality with abruption decreased from 173 per 1000 in 1987-1990 to 98 per 1000 in 2000-2005 (p < 0.001). In singleton births at <32 gestational weeks, overall perinatal mortality was high (345 per 1000) and was not increased by placental abruption. Prematurity, low birthweight, male fetal sex and maternal smoking were independent risk factors for placental abruption-related perinatal mortality. CONCLUSIONS: Although mortality associated with placental abruption decreased during the study period, placental abruption still remains an important cause of perinatal mortality.

Decreasing incidence of placental abruption in Finland during 1980-2005.

OBJECTIVE: To study the incidence trends of placental abruption. DESIGN: Register-based retrospective study. SETTING: The Finnish Medical Birth Register and Hospital Discharge Register. POPULATION: A total of 6231 placental abruption cases among 1 576 051 deliveries. METHODS: Data on demographic and pregnancy and delivery associated outcomes were collected. Data on overall incidence and maternal age were available 1980-2005. Data on other variables were available 1987-2005. MAIN OUTCOME MEASURE: Placental abruption RESULTS: The overall incidence of placental abruption was 395/100 000 (0.4%). The incidence decreased 31%, from 487/100 000 in 1980 to 337/100 000 in 2005 (p < 0.001). The incidence was lowest among women aged 20-24 years (305/100 000) and highest among women aged ≥45 years (1309/100 000). During 1987-2005 the incidence was lowest among women with one or two deliveries (353/100 000) and highest in nulliparous women (382/100 000) and in women with three or more deliveries (595/100 000). The incidence was nearly double (577/100 000) among smoking compared with non-smoking women (341/100 000). The incidence was highest between gestational weeks 26 and 29. Among newborns weighing <1500 g the incidence was higher (5734/100 000) than among those weighing ≥2500 g (251/100 000). The incidence was higher in multiple (903/100 000) than in singleton pregnancies (374/100 000). CONCLUSION: The incidence of placental abruption decreased during 1980-2005. The incidence was highest among women aged 45 years or more, multiparous and smoking women, in multiple pregnancies and in women with low birthweight newborns.