Omphalocele in Finland from 1993 to 2014: Trends, Prevalence, Mortality, and Associated Malformations-A Population-Based Study.

INRODUCTION: The aim of this study is to assess the changes in prevalence, mortality and termination pregnancy of omphalocele, and to identify associated anomalies. MATERIALS AND METHODS: A population-based nationwide register study. All cases with omphalocele were identified in the Finnish Register of Congenital Malformations and the Care Register for Health Care from 1993 to 2014 including live births, stillbirths, and terminations of pregnancy due to fetal anomalies. Associated anomalies were recorded and analyzed, and perinatal and infant mortality and prevalence were calculated. RESULTS: There were 600 cases with omphalocele including 229 live births, 39 stillbirths, and 332 (55%) abortions. Birth prevalence in Finland was 1.96 per 10,000 births with no consistent trend over time. However, total prevalence was much higher (4.71/10,000) because more than half of these families chose option for the termination of pregnancy. Omphalocele is often complicated with other anomalies; most commonly chromosomal abnormalities (9.3%), heart defects (6.3%), central nervous system anomalies (3.0%), gastrointestinal, and urogenital malformations (both 2.0%). Proportion of chromosomal and central nervous system abnormalities were even higher in terminated pregnancies. Overall infant mortality was 22%. Total 1-year survival rates for isolated omphalocele, cases with multiple anomalies and neonates with chromosomal defects were 80, 88, and 17%, respectively. CONCLUSION: Omphalocele is a rare congenital anomaly, often associated with other malformations. Our data suggest that isolated cases may be more common than previously thought. In the absence of chromosomal defects, survival is reasonably good. Regardless, more than half of these pregnancies are often terminated.

The prenatal ultrasonic character and postnatal follow-up of 227 microcystic and macrocystic congenital cystic adenomatoid malformations.

The objective of our study was to compare microcystic and macrocystic congenital cystic adenomatoid malformation (CCAMs) through prenatal characteristics, perinatal outcome, postnatal management and development after consultation in our prenatal diagnosis centre. We conducted a retrospective cohort study of 227 cases prenatally diagnosed as CCAM in our hospital within three years. One hundred and eighty-one cases continued their pregnancy and 46 pregnancies were terminated. One hundred and fifteen of 227 cases were microcystic and 112 were macrocystic. The prenatal ultrasound characteristics of two types showed no statistically significant differences, despite that CVR of macrocystic CCAMs was mildly greater than microcystic. None of recorded cases received surgical intervention in utero. Compared with healthy foetuses, CCAMs presented with higher percentage of polyhydramnios and male foetuses, larger amount of postpartum blood loss and longer duration of NICU hospitalisation. Compared with 46 legal abortions, continued pregnancy cases had a smaller CVR, less polyhydramnios, cardiac shift and hydrops. One hundred and seventy-nine cases were followed up after birth and 174 babies were asymptomatic. Thirty one cases received successful surgical resection. In conclusion, the prenatally diagnosed CCAMs have a good short-term prognosis and conservative management is a reasonable option in asymptomatic fetuses. Microcystic and macrocystic CCAMs both presented similar prenatal courses and perinatal prognoses. Conservative management, prenatally and postnatally, could be accepted in selected cases.Impact statementWhat is already known on this subject? Congenital cystic adenomatoid malformation is a well-known developmental abnormality of the lung. The prognosis for most CCAMs is good, but the prenatal and postnatal management remains controversial.What do the results of this study add? This study is one of the largest case cohorts to conclude that microcystic and macrocystic CCAMs both presented similar prenatal courses and perinatal prognoses. Conservative management is a reasonable option in asymptomatic babies.What are the implications of these findings for clinical practice and/or further research? A comprehensive assessment by an experienced multidisciplinary team is necessary to forbid blinding abortions of CCAMs. Conservative management prenatally and postnatally could be accepted in most asymptomatic cases.

Severe congenital heart defects: incidence, causes and time trends of preoperative mortality in Norway.

BACKGROUND AND AIMS: Severe congenital heart defects (CHDs) still represent one of the main causes of infant death. The risk factors associated with cardiac surgery and postoperative mortality are well known. We aimed to describe the rates, causes and time trends of mortality before surgery-including termination of pregnancies and palliative care-in fetuses and children below 2 years of age with severe CHDs. METHODS AND RESULTS: Data concerning all 789 345 pregnancies in Norway from 2004 to 2016 were retrieved from the Medical Birth Registry of Norway, the Oslo University Hospital's Clinical Registry for Congenital Heart Defects, the Norwegian Cause of Death Registry, the National Registry, Statistics Norway, autopsy reports and medical records. When including termination of pregnancy and stillbirths, the number of fetuses and children with severe CHDs that did not reach the age of 2 years was 31%. Mortality among the 2359 live-born infants with severe CHDs was 10%, of whom 58% died before surgery. Of the preoperative deaths, 81% died in a palliative care setting, and comorbidity and univentricular CHDs were common among these infants. Together, palliative care and termination of pregnancy accounted for 86% of deaths in cases of severe CHDs, and this proportion increased during the study period (annual percent changes 1.3, 95% CI 0.4 to 2.1, p<0.001), mainly due to an increased termination rate. CONCLUSIONS: Termination of pregnancy accounted for the majority of the deaths in fetuses and children with severe CHDs. Among live-born children, most preoperative deaths occurred in a palliative care setting and were strongly related to comorbidities and/or univentricular hearts.

Nas vias de interromper ou não a gestação: vivências de gestantes de fetos com anencefalia / On the way to interrupting the gestation or not: experiences of pregnant women with anencephalic fetuses

Resumo A anencefalia é uma malformação caracterizada pela ausência total ou parcial do encéfalo e o Brasil é o quarto colocado em número de nascimentos de fetos anencéfalos no mundo. Existe associação entre anencefalia fetal e maior número de complicações maternas. A partir de 2012 a mulher com gestação de anencéfalo poderá manter ou interromper a gestação, se assim o desejar, sem necessidade de autorização judicial. Objetivos: compreender as vivências das mulheres de fetos com anencefalia e identificar os fatores determinantes para a escolha de interromper ou não interromper a gestação. Estudo qualitativo e método das narrativas de vida, com 12 mulheres, maiores de 18 anos e com diagnóstico de feto anencéfalo, que realizaram a interrupção da gestação ou o parto em uma maternidade pública do Rio de Janeiro. A coleta dos dados foi entre junho e novembro de 2016 e encerrada quando os padrões narrativos alcançaram a saturação progressiva, a partir das recorrências. Os enunciados emergidos após leitura flutuante e aprofundada foram articulados em Núcleos Narrativos e realizada análise comparativa e compreensiva dos dados. Os relatos trouxeram à tona as vivências intensas dessas mulheres, como também as fragilidades existentes em relação ao cuidado e a problemática da interrupção da gestação.

Abstract Anencephaly is a malformation characterized by the total or partial absence of the brain, and Brazil records the fourth largest number of births of anencephalic fetuses in the world. Fetal anencephaly is associated with a more significant number of maternal complications. As of 2012, women with anencephalic gestation were empowered with the right to carry the pregnancy to term or terminate it, if they so desired, without any judicial authorization. Objectives: to understand the experiences of women with fetal anencephaly and to identify the determinant factors for interrupting the gestation or not. This is a qualitative study using the Life Narratives method with 12 women over 18 years old diagnosed with an anencephalic fetus, who interrupted gestation or delivery in a public maternity hospital in Rio de Janeiro. Data were collected between June and November 2016, and the process was finalized when the narrative patterns reached progressive saturation from the recurrences. The statements that emerged following floating and in-depth reading were articulated in Narrative Nuclei, and data comparative and comprehensive analysis was performed. The reports brought to light the intense experiences of these women, as well as the weaknesses existing concerning care and the pregnancy termination issue.

Gastroschisis in Finland 1993 to 2014-Increasing Prevalence, High Rates of Abortion, and Survival: A Population-Based Study.

INTRODUCTION: The study aims to assess the changes in prevalence and mortality of gastroschisis, and to identify associated anomalies. MATERIALS AND METHODS: It is a population-based nationwide study. All gastroschisis cases were identified in the Finnish Register of Congenital Malformations and the Care Register for Health Care from 1993 to 2014 including live births, stillbirths, and terminations of pregnancy due to fetal anomalies. Associated anomalies were recorded, and analyzed, and prevalence and infant mortality were calculated. RESULTS: There were 320 cases of gastroschisis; 235 (73%) live births, 16 (5%) stillbirths, and 69 (22%) terminations of pregnancy. Live birth prevalence of gastroschisis in Finland was lower than generally reported (1.73 in 10,000). However, due to relatively high rates of abortion, our total prevalence of 2.57/10,000 was similar with other reports. The most common risk factor was young maternal age. Babies with gastroschisis were born prematurely, on average on the 36th week and most are delivered by caesarean section. There was a significant increasing trend in live birth prevalence (p = 0.0018). Overall infant mortality was 7.7% (18/235), 7.2% (16/222) in simple gastroschisis and 15% (2/13) in complex gastroschisis. Associated anomalies were rare both in aborted fetuses and neonates, and there was only one case with a chromosomal abnormality. CONCLUSION: Gastroschisis is usually an isolated anomaly with increasing birth prevalence and excellent survival rates. Regardless of the good prognosis, the abortion rates in Finland are higher than previously reported, and we hypothesize this to be due to lack of appropriate antenatal counselling.

Prognosis of 591 fetuses with ultrasonic soft markers during mid-term pregnancy.

The present study aimed to examine the value of ultrasonic soft markers in prenatal screening by analyzing the clinical outcome of fetuses with ultrasonic soft markers during the second trimester of pregnancy. A retrospective analysis was performed to evaluate the outcome of 591 fetuses with ultrasonic soft markers from January 2015 to August 2016 in Zhongnan Hospital of Wuhan University, China. It was found that 591 fetuses showed ultrasonic soft markers in 4927 cases with the occurrence rate being 12.0%. Among them, 564 fetuses (95.4%) were delivered and the remaining 27 cases (4.6%) were aborted. Five hundred and sixty-seven cases had single ultrasonic soft marker, including echogenic intracardiac focus (n=343), mild renal pelvis dilatation (n=116), short long bones (n=72), single umbilical artery (n=31), mild lateral ventriculomegaly (n=21), choroid plexus cysts (n=19), and echogenic bowel (n=13), with the disappearing rates in pregnancy being 97.1% (333/343), 77.6% (90/116), 0% (0/72), 0% (0/31), 57.1% (12/21), 89.5% (17/19) and 61.5% (8/13) respectively. The rate of pregnancy termination due to single ultrasonic soft marker was 3.4% (19/567), and that was 33.3% (8/24) due to two ultrasonic soft markers with the difference being statistically significant (P<0.05). The reasons of pregnancy termination included malformations (polycystic kidney, cleft lip and palate, congenital heart diseases, pcromphalus, hypospadias, hydrocephalus), chromosome abnormality, and stillbirth. It was concluded that single ultrasonic soft marker is usually transient manifestation in pregnancy. Without the other structural defects, single ultrasonic soft marker usually disappears spontaneously with favorable prognosis in a low-risk population. It is suggested that ultrasonic soft markers should be appropriately interpreted to avoid unnecessary invasive examination.

Termination of pregnancy due to renal tract abnormalities: survey of 97 fetuses from a single medical center.

OBJECTIVE: The article aimed to assess the spectrum of fetal renal tract abnormalities as a major finding leading to termination of pregnancy (TOP). METHOD: The study population included all pregnant women with singleton pregnancy who underwent TOP in our institute because of fetal renal tract indications between 1998 and 2015. We specifically excluded TOPs performed because of multiple pregnancies, multisystem defects, abnormal karyotype and chromosomal or genetic defect not related to renal tract abnormalities. The patients were stratified into late TOP (≥24 weeks' gestation) and early TOP (<24 weeks' gestation). RESULTS: There were 97 (3.5%) cases of TOP because of fetal renal abnormalities and are the subjects of this study. Of these cases, 19 (19.6%) were at ≥24 weeks' gestation. Renal cystic disease was the leading indication for late TOP compared with early TOP group (31.8% vs 21.8%, respectively, p = 0.001). Routine prenatal care raised suspicion of abnormalities in 11 (50.9%) cases, and diagnosis was established by additional tests. Abnormal findings were either missed in one (5.3%) case or developed later in two (10.5%) cases. No routine prenatal screening was performed in the remaining five (26.3%) cases. CONCLUSIONS: We found a different distribution for fetal renal tract abnormalities leading to late versus early TOP. As many of renal tract malformations could have been diagnosed earlier (~32%), timely scanning may reduce the need for late TOPs in some cases. © 2016 John Wiley & Sons, Ltd.

Impact of fetal counseling on outcome of antenatal congenital surgical anomalies.

AIM: To analyze the impact of counseling on antenatal congenital surgical anomalies (ACSA). METHODS: Cases presenting with ACSA for fetal counseling and those presenting in post-natal period following diagnosis of ACSA (PACSA) for surgical opinion were analyzed for spectrum, presentation and outcome. RESULTS: 117 cases including ACSA(68);PACSA(49) were analyzed. Gestational age at diagnosis of ACSA;PACSA was 17-37;17-39 weeks (median 24;32 weeks). Diagnoses in ACSA;PACSA included urological (26;31), neurological (10;5), congenital diaphragmatic hernia (CDH)(5;1), gastrointestinal (5;5), lung and chest anomalies (5;1), intraabdominal cysts (4;1), abdominal wall defects (4;0), tumors (3;3), limb anomaly (1;1), esophageal atresia (1;1), conjoint twins (1;0), hepatomegaly (1;0), and major cardiac anomalies (2;0). Two antenatal interventions were done for ACSA; vesicoamniotic shunt and amnioinfusion for oligohydramnios. 17;24 ACSA;PACSA required early surgical intervention in post-natal period. Nine ACSA underwent medical termination of pregnancy and 4 had intrauterine demise. Nine ACSA babies died including two CDH, one gastroschisis, one duodenal atresia, one conjoint twins, one megacystitis with motility disorder and three posterior urethral valves. All PACSA babies survived. CONCLUSION: Fetal counseling for CSA portrays true outcome of ACSA with 32.3% (22/68) mortality versus 0% for PACSA due to selection bias. However, fetal counseling ensures optimal perinatal care.

Severe congenital anomalies of the kidney and urinary tract: epidemiology can inform ethical decision-making.

OBJECTIVE: Decision-making for pregnancies complicated by severe congenital anomalies of the kidneys and urinary tract (CAKUT) are ethically challenging, partly because the outcomes are not well studied. STUDY DESIGN: Retrospective cohort study of severe cases of CAKUT over 14 years. RESULTS: Seventy-one of the 108 cases could be completely analyzed. Forty-six percent (n=33) infants were live-born; one-third (n=11) survived to 12 months. Twice as many non-surviving infants received a trial of therapy vs comfort care only. Two-thirds of non-survivors who received a trial of therapy died within the first 9 h of life. Live-born infants faced morbidities such as pneumothorax and neonatal dialysis. CONCLUSIONS: Over half of pregnancies complicated by severe CAKUT ended in termination or stillbirth, but one-third of live-born infants survived to 12 months and the majority of non-survivors died within hours. This may allay concerns about prolonged and futile intensive care for parents considering a trial of therapy.

Chorionic Villus Sampling, Early Amniocentesis, and Termination of Pregnancy Without Diagnostic Testing: Comparison of Fetal Risk Following Positive Non-invasive Prenatal Testing.

BACKGROUND: With the increased accuracy of non-invasive prenatal testing (NIPT) based on cell-free DNA (cfDNA) techniques, the likelihood of false-positive screening results has been reduced for high-risk populations. Following a positive screening test, a diagnostic procedure to confirm the result is strongly recommended, although some patients have terminated pregnancies because of a positive NIPT alone. Chorionic villus sampling (CVS), the diagnostic procedure of choice in the first trimester, is not available in all locations. Amniocentesis before 15 weeks, referred to as early amniocentesis (EA), is associated with a 1% rate of talipes and an increased rate of early pregnancy loss compared with CVS. Our objective was to compare the level of risk for euploid pregnancies following a positive NIPT based on the invasive procedure chosen. METHOD: Using data from a 2003 meta-analysis, we estimated the rates of adverse pregnancy outcome in euploid pregnancies based on the positive predictive value (PPV) of NIPT and the invasive procedure used-that is, CVS, EA, or termination of pregnancy (TOP). RESULTS: Following NIPT, we found that the rate of adverse fetal outcomes in euploid pregnancies was lower for CVS than for EA at all PPV levels. As the PPV of NIPT increased, the difference in risk between EA and CVS decreased. The risk to euploid pregnancies of TOP was excessive at all PPVs. CONCLUSION: CVS is the recommended diagnostic test in the first trimester because it is safer than EA for the fetus. However, EA is better than no testing when early TOP is planned. Patients should be strongly counselled against TOP without confirmatory testing.

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.

Prenatal diagnosis versus first-trimester screening of trisomy 21 among pregnant women aged 35 or more.

OBJECTIVE: To compare the policy of prenatal diagnosis versus first trimester screening of trisomy 21 among pregnant women of advanced age. METHODS: A retrospective study was conducted on patients aged ≥35 divided in two groups: patients who requested first trimester combined test and only in case of screen-positive result underwent invasive testing (group A); patients undergoing chorionic villous sampling or amniocentesis as first investigation (group B). The following outcome variables were compared: antenatal detection of trisomy 21, occurrence of trisomy 21 at birth, miscarriage rate, hospitals' costs. RESULTS: 4527 women were included. Of these, 534 (11.80%) underwent T21 screening whereas 3993 (88.20%) requested primary invasive testing. In group A, 64 combined test were positive (11.99%) and 8 trisomy 21 cases were diagnosed (1.50%); the loss of euploid fetuses after invasive procedure was 4.55% (2/44). No false-negative case was observed. In group B 57 cases of trisomy 21 were diagnosed (1.43%), and pregnancy loss rate of chromosomally normal fetuses was 0.45% (17/3806). The estimated cost was, respectively, 67.720€ for the primary screening versus 1.996.500€ for direct prenatal diagnosis. CONCLUSION: First trimester screening of trisomy 21 is highly accurate and cost saving among women ≥35.

[Prenatal diagnosis of trisomy 13 and trisomy 18: the experience of Assaf-Harofe Medical Center].

INTRODUCTION: Trisomy 18 and 13 are the most common autosomal trisomies, after trisomy 21, and their frequency is rising due to the increased maternal age of pregnant women. The fetuses suffer from multi-organ damage that may lead to many gestational complications as well as short life expectancy. OBJECTIVE: To assess the indications for prenatal karyotyping of trisomy 13 (T-13, Patau syndrome) and trisomy 18 (T-18, Edwards syndrome) during pregnancy in our medical center. METHODS: This retrospective cohort study involved all singleton pregnancies locally diagnosed or referred to our Institute because of T-13 and T-18, during the years 1998-2011. RESULTS: There were 1879 cases of termination of pregnancies (TOPs) because of fetal indications, of them 53 cases of T-18 and 10 cases of T-13. The main indications for prenatal karyotyping in our study group were abnormal sonographic findings during anomaLy scans. In addition, 7 newborns with T-18 and 3 infants with T-13 were born in our hospital during the same period of time. We examined all cases that led to the Live birth of newborns with chromosomal anomalies, stemming from the Lack of extraction of the tests mentioned above and/or ignoring findings that raise suspicion that requires performing prenatal karyotyping during pregnancy. DISCUSSION: Our findings corresponded with other studies and showed that prenatal diagnosis of T-13/T-18 due to abnormal sonographic finding is rising. CONCLUSIONS: Our study shows that it was possible to identify the vast majority of T-13/T-18 among the pregnant women who had an increased risk based on a combination of the routine screening tests applied in Israel.

Brief report pregnancy outcome in women assigned an ICD-9/ICD-9-CM 655.0 code "central nervous system malformation in fetus affecting management of pregnancy": can these codes aid in surveillance for central nervous system defects?

BACKGROUND: The difficulty many birth defects registries have in identifying early pregnancy terminations can lead to significant underreporting of certain types of malformations. This study was designed to determine the potential benefit of using maternal ICD-9 codes relating to management of pregnancy due to fetal anomaly in surveillance of central nervous system (CNS) defects (655.0). METHODS: Women assigned the ICD-9/ICD-9-CM (henceforth termed ICD-9) code 655.0 between 1990 and 2000 were ascertained from two administrative health databases in Manitoba, Canada, one relating to maternal serum screening and one based on hospital discharges. Information was collected on the type of CNS defect identified and whether it was isolated or associated with other anomalies. The relationship of these variables to pregnancy outcome and its potential impact on surveillance for these types of defects was explored. RESULTS: Neural tube defects were the most common finding (67%) identified in the fetuses/infants of women assigned code 655.0, followed by hydrocephaly (20%) and Dandy-Walker anomaly (6%), but the proportion of neural tube defect cases declined after food fortification with folic acid. Termination of pregnancy occurred in ∼50% of neural tube defect cases, 18% before 20 weeks of gestation, but was rare for other CNS defects. CONCLUSION: The maternal ICD-9 code 655.0 had a very high (97%) positive predictive value for identifying fetuses with a CNS defect; 655.00 was particularly effective in identifying neural tube defects pregnancies terminated before 20 weeks gestation that would be difficult to ascertain, especially by passive surveillance systems using infant related data alone.

Outcome and requirement for surgical repair following prenatal diagnosis of ventricular septal defect.

OBJECTIVE: To document outcome following prenatal diagnosis of ventricular septal defects (VSDs), particularly associated anomalies and the requirement for surgical closure of the defect. METHODS: All cases of prenatal diagnosis of a VSD made by fetal cardiologists at a tertiary fetal medicine referral center in the period January 2002 to December 2011 were extracted from our database. Data regarding fetal cardiac diagnosis, extracardiac anomalies, nuchal translucency thickness and karyotype were noted. RESULTS: A total of 171 cases fulfilled our selection criteria. Of these, 69% were diagnosed with a perimembranous VSD and 31% with a muscular defect. The median gestational age at diagnosis was 21 + 6 (range, 12 + 0 to 37 + 3) weeks. Owing to severe extracardiac or genetic conditions, pregnancy resulted in intrauterine death or termination in 49% cases, and postnatal death occurred in 9% of cases. Seventy-two babies were liveborn, and were regarded as potential surgical candidates if hemodynamics suggested that surgery was indicated. Surgical closure of the VSD proved necessary in 50% of the patients with a perimembranous VSD and 13% of those with a muscular VSD. All patients operated on survived surgical repair. No karyotypic abnormalities were identified in fetuses with VSDs that had normal first-trimester screening and no other sonographic abnormalities. CONCLUSIONS: A high proportion of VSDs diagnosed during fetal life (29%) require postnatal surgical intervention. The assessment of hemodynamic significance from fetal echocardiography is imperfect. The presence of extracardiac abnormalities or abnormal results on first-trimester screening has a major impact on the incidence of karyotypic abnormalities in affected fetuses. This should inform discussions with parents about invasive testing.

Attitudes among Danes toward termination of pregnancy for social reasons and fetal abnormality.

OBJECTIVE: To investigate attitude among Danes toward termination of pregnancy (TOP) for social reasons and fetal abnormality (Down's syndrome, cystic fibrosis, adult polycystic kidney disease and the missing of one upper extremity) at different gestational ages. METHOD: A questionnaire was mailed to 1000 Danish citizens aged 18 to 45 years randomly drawn from the Danish Central Personal Register. A significance level of 0.05 was used for statistical estimations. RESULTS: Response rate was 49%. Eighty-two percent supported TOP for social reasons < 18-week gestation. Apart from polycystic kidney disease and the missing of an extremity < week 18 gestation, the support for TOP varied significantly between each condition and decreased with increasing gestational age (non-overlapping confidence intervals, p < 0.05), with termination of Down's syndrome receiving the most support (85% < week 18 and 18% at week 26). Fewer would personally opt for termination. Preimplantation diagnostic was supported by a majority. Ninety percent gave consistent responses, and among these, a majority had a gradualistic approach to TOP. Religion and political affiliations were statistically associated with the investigated issues. CONCLUSION: Internationally compared Danes are less supportive of selective terminations. Their attitudes continue to be dominated by a gradualistic view on terminations.

[Evolution of the frequency of congenital defects in newborn infants and fetuses from terminations of pregnancy after prenatal diagnosis in the period 1982-2009]. / Defectos congénitos en recién nacidos y fetos procedentes de interrupción del embarazo tras diagnóstico prenatal en el período 1982-2009.

BACKGROUND AND OBJECTIVE: The study of congenital defects (CD) must include termination of pregnancy (TOP) for CD and evaluate risk factors that modify their frequency. PATIENTS AND METHODS: Consecutive series of 517 newborn and 202 TOP with CD among 38,191 childbirths, between 1982-2009 years. RESULTS: The mean frequency for newborns with CD is 13.54‰ and for newborn and TOP with CD is 18.73‰. Single CD are 61.12% in newborns and 52.17% in TOP. The 18.37% of CD in newborn and 40.58% of TOP are syndromic. Mean gestational age for TOP is 17.92 weeks. Overall frequency of anencephaly is 2.62‰ for newborns and 6.77 for 10,000 for newborns and TOP. Spina bifida is 3.14 for 10,000 newborns and 5.99 for 10,000 newborns and TOP. Overall frequency of Down syndrome (DS) is 10.74 for 10,000 newborns and 22.14 for 10,000 newborns and TOP. The percentage of foreign mothers was 35.9% in 2009 and the mean maternal age significantly increased in this period. CONCLUSION: We observe a significant decrease of CD in newborns but not in their conception. We have not detected primary prevention for neural tube defects. The decrease in DS in newborns is not statistically relevant but ethnic diversity and maternal aging may be modifying the frequency. The 53% of CD were TOP in the period 2007-2009. It is mandatory a complete study for CD in TOP in order to offer serious reproductive counselling.

Detection of congenital heart defects throughout pregnancy; impact of first trimester ultrasound screening for cardiac abnormalities.

OBJECTIVE: To evaluate prospectively the efficacy to screen for congenital heart defects (CHD) during the first trimester nuchal translucency (NT) ultrasound examination by assessing the four chambers' view of fetal heart. METHODS: Pregnancies that were examined prospectively by ultrasound in the first trimester (11th-14th week), the second (19th-24th week) and third trimester were included in the study. 3774 fetuses were examined and fetal heart was assessed during the NT scan by examining the four chambers view. Detailed echocardiography was performed during the anomaly and growth scans. Diagnosis of congenital heart defects (CHD) was further confirmed by a fetal cardiologist. RESULTS: The four chambers view was obtained in 99.52% of the cases. CHD were diagnosed in 29 fetuses (0.77%). Thirteen cases (44.8%) were detected during the 11-13 weeks' scan, 14 cases (48.3%) during the anomaly scan, 1 CHD (3.5%) during the third trimester scan and 1 case (3.5%) postpartum. CONCLUSION: Assessment of the four chambers of fetal heart early in pregnancy was feasible and allowed the detection of 45% of CHD. Additional parameters of fetal cardiac anatomy during the NT scan may further improve the detection rate providing pregnancy management information early in the first trimester.

Outcomes of prenatally diagnosed sacrococcygeal teratomas: the results of a Japanese nationwide survey.

BACKGROUND/PURPOSE: Few large multicenter surveys have been performed on sacrococcygeal teratomas (SCTs) describing both the prenatal and postnatal courses. The aim of this study was to review and report on the prenatal surveillance and postnatal outcome of a large cohort of fetuses with SCTs in Japan. METHODS: A nationwide retrospective cohort study was conducted on 97 fetuses prenatally diagnosed with SCTs between 2000 and 2009. The prenatal course, perinatal data, and postnatal outcome were reviewed. RESULTS: Eleven pregnancies were terminated before 22 weeks of gestation. Of the 86 remaining fetuses, 3 died in utero, and 83 were delivered. Three infants died before surgery, and 8 infants died after excisional surgery. The overall mortality was 26%, with a mortality excluding terminations of 16%. The gestational age at delivery was younger than 28 weeks in 5, 28 to 31 weeks in 13, 32 to 36 weeks in 27, and 37 weeks or more in 37 cases, with mortality rates of 60%, 38%, 11%, and 0%, respectively. The tumor component was predominantly cystic in 54 and predominantly solid in 32 cases, with mortality rates of 2% and 33%, respectively. CONCLUSIONS: The overall mortality of prenatally diagnosed SCTs excluding terminations was 16%. Early delivery and predominantly solid component tumors were associated with an increased risk of mortality.

Mortality in infants with cardiovascular malformations.

UNLABELLED: Cardiovascular malformations are an important cause of infant death and the major cause of death due to malformation. Our aims were to analyse and categorise all deaths in infants with cardiovascular malformations, and to analyse trends in mortality over time and influences on mortality. We obtained details of infant deaths and cardiovascular malformations from the population of one health region for 1987-2006. We categorised deaths by cause and by presence of additional chromosomal or genetic abnormalities or non-cardiac malformations. In 676,927 live births the total infant mortality was 4,402 (6.5 per 1,000). A total of 4,437 infants had cardiovascular malformations (6.6 per 1000) of whom 458 (10.3%) died before 1 year of age. Of this number, 151 (33%) deaths had non-cardiac causes, 128 (28%) were cardiac without surgery and 179 (39%) occurred from cardiac causes after surgery. Death was unrelated to the cardiovascular malformation in 57% of infants with an additional chromosomal or genetic abnormality, in 76% of infants with a major non-cardiac malformation and in 16% of infants with an isolated cardiovascular malformation. Terminations of pregnancies affected by cardiovascular malformations increased from 20 per 100,000 registered births in the first 5 years to 78 per 100,000 in the last 5 years. A total of 2,067 infants (47%) underwent surgery and of these 216 (10%) died before 1 year of age. CONCLUSIONS: A total of 10.4% of infants who died had a cardiovascular malformation and two-thirds of deaths were due to the malformation or its treatment. Mortality declined due to increasing termination of pregnancy and improved survival after operation.