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Objective: To estimate the prevalence and trend of congenital eye anomalies (CEAs) and the rate of prenatal diagnosis over a 10-year period., Design: Retrospective population-based registry study., Setting: All maternity units in Paris, France, from 2010 to 2020., Population: A cohort of 115 cases of CEA detected among all live births or stillbirths, after 22 weeks of gestation, and terminations of pregnancy., Methods: The total prevalence of CEAs and prevalence of each specific CEA were calculated using 95% Poisson exact confidence intervals., Main Outcome Measures: The total prevalence of CEAs and the proportion of prenatal diagnosis of CEAs, and their evolution., Results: The prevalence of CEAs was 4.1 (95% CI 3.4-5.0) cases, ranging between 3.1 and 5.7 cases, per 10 000 births. CEAs were prenatally diagnosed in 23.5% of cases. CEAs were bilateral in 51 cases (44.3%), unilateral in 43 cases (37.4%) and missing or unknown in 21 cases (18.3%). Of those with CEAs, 20.9% had genetic anomalies and 53.0% had at least one other extraocular anomaly. When detected prenatally, CEAs were bilateral in 15 cases (55.6%), unilateral in eight cases (29.6%) and missing in the four remaining cases. The prenatal diagnosis rate of CEAs associated with genetic anomalies, CEA cases with at least one other malformation and isolated CEA cases were 29.2%, 26.2% and 13.3%, respectively., Conclusions: In total, 115 cases of CEAs were observed during the study period, representing a total prevalence of 4.1 cases per 10 000 births. The overall prenatal detection rate of CEAs in our population was 23.5%, which dropped to 13.3% for isolated cases of CEAs., (© 2024 The Authors. BJOG: An International Journal of Obstetrics and Gynaecology published by John Wiley & Sons Ltd.)

Background: Aplasia cutis congenita (ACC) is a rare congenital anomaly characterized by localized or widespread absence of skin at birth, mainly affecting the scalp. Most information about ACC exists as individual case reports and medium-sized studies., Objectives: This study aimed to investigate the epidemiology of ACC, using data from a large European network of population-based registries for congenital anomalies (EUROCAT)., Methods: Twenty-eight EUROCAT population-based registries in 16 European countries were involved. Poisson regression models were exploited to estimate the overall and live birth prevalence, to test time trends in prevalence between four 5-year periods and to evaluate the impact of the change of coding for ACC from the unspecific ICD9-BPA code to the specific ICD10 code. Proportions of ACC cases associated with other anomalies were reported., Results: Five hundred cases were identified in the period 1998-2017 (prevalence: 5.10 per 100,000 births). Prevalence across 5-year periods did not differ significantly and no significant differences were evident due to the change from ICD9 to ICD10 in ACC coding. Heterogeneity in prevalence was observed across registries. The scalp was the most common site for ACC (96.4%) and associated congenital anomalies were present in 33.8% of cases. Patau and Adams-Oliver syndromes were the most frequent among the associated chromosomal anomalies (88.3%) and the associated genetic syndromes (57.7%), respectively. 16% of cases were associated with limb anomalies and 15.4% with congenital heart defects. A family history of ACC was found in 2% of cases., Conclusion: To our knowledge, this is the only population-based study on ACC. The EUROCAT methodologies provide reliable prevalence estimates and proportions of associated anomalies., (© 2022 European Academy of Dermatology and Venereology.)

The aim of the study is to determine the prevalence, outcomes, and survival (among live births [LB]), in pregnancies diagnosed with trisomy 13 (T13) and 18 (T18), by congenital anomaly register and region. Twenty-four population- and hospital-based birth defects surveillance registers from 18 countries, contributed data on T13 and T18 between 1974 and 2014 using a common data-reporting protocol. The mean total birth prevalence (i.e., LB, stillbirths, and elective termination of pregnancy for fetal anomalies [ETOPFA]) in the registers with ETOPFA (n = 15) for T13 was 1.68 (95% CI 1.3-2.06), and for T18 was 4.08 (95% CI 3.01-5.15), per 10,000 births. The prevalence varied among the various registers. The mean prevalence among LB in all registers for T13 was 0.55 (95%CI 0.38-0.72), and for T18 was 1.07 (95% CI 0.77-1.38), per 10,000 births. The median mortality in the first week of life was 48% for T13 and 42% for T18, across all registers, half of which occurred on the first day of life. Across 16 registers with complete 1-year follow-up, mortality in first year of life was 87% for T13 and 88% for T18. This study provides an international perspective on prevalence and mortality of T13 and T18. Overall outcomes and survival among LB were poor with about half of live born infants not surviving first week of life; nevertheless about 10% survived the first year of life. Prevalence and outcomes varied by country and termination policies. The study highlights the variation in screening, data collection, and reporting practices for these conditions., (© 2019 Wiley Periodicals, Inc.)

Achondroplasia is a rare genetic disorder resulting in short-limb skeletal dysplasia. We present the largest European population-based epidemiological study to date using data provided by the European Surveillance of Congenital Anomalies (EUROCAT) network. All cases of achondroplasia notified to 28 EUROCAT registries (1991-2015) were included in the study. Prevalence, birth outcomes, prenatal diagnosis, associated anomalies, and the impact of paternal and maternal age on de novo achondroplasia were presented. The study population consisted of 434 achondroplasia cases with a prevalence of 3.72 per 100,000 births (95%CIs: 3.14-4.39). There were 350 live births, 82 terminations of pregnancy after prenatal diagnosis, and two fetal deaths. The prenatal detection rate was significantly higher in recent years (71% in 2011-2015 vs. 36% in 1991-1995). Major associated congenital anomalies were present in 10% of cases. About 20% of cases were familial. After adjusting for maternal age, fathers >34 years had a significantly higher risk of having infants with de novo achondroplasia than younger fathers. Prevalence was stable over time, but regional differences were observed. All pregnancy outcomes were included in the prevalence estimate with 80.6% being live born. The study confirmed the increased risk for older fathers of having infants with de novo achondroplasia., (© 2019 Wiley Periodicals, Inc.)

Aims: Information about medication safety in pregnancy is inadequate. We aimed to develop a signal detection methodology to routinely identify unusual associations between medications and congenital anomalies using data collected by 15 European congenital anomaly registries., Methods: EUROmediCAT database data for 14 950 malformed foetuses/babies with first trimester medication exposures in 1995-2011 were analyzed. The odds of a specific medication exposure (coded according to chemical substance or subgroup) for a specific anomaly were compared with the odds of that exposure for all other anomalies for 40 385 medication anomaly combinations in the data. Simes multiple testing procedure with a 50% false discovery rate (FDR) identified associations least likely to be due to chance and those associations with more than two cases with the exposure and the anomaly were selected for further investigation. The methodology was evaluated by considering the detection of well-known teratogens., Results: The most common exposures were genitourinary system medications and sex hormones (35.2%), nervous system medications (28.0%) and anti-infectives for systemic use (25.7%). Fifty-two specific medication anomaly associations were identified. After discarding 10 overlapping and three protective associations, 39 associations were selected for further investigation. These associations included 16 which concerned well established teratogens, valproic acid (2) and maternal diabetes represented by use of insulin (14)., Conclusions: Medication exposure data in the EUROmediCAT central database can be analyzed systematically to determine a manageable set of associations for validation and then testing in independent datasets. Detection of teratogens depends on frequency of exposure, level of risk and teratogenic specificity., (© 2016 The British Pharmacological Society.)

Objective: To compare the probability of prenatal diagnosis (PND) and termination of pregnancy for fetal anomaly (TOPFA) between fetuses conceived by assisted reproductive techniques (ART) and spontaneously-conceived fetuses with congenital heart defects (CHD)., Design: Population-based observational study., Setting: Paris and surrounding suburbs., Population: Fetuses with CHD in the Paris registry of congenital malformations and cohort of children with CHD (Epicard)., Methods: Comparison of ART-conceived and spontaneously conceived fetuses taking into account potential confounders (maternal characteristics, multiplicity and year of birth or TOPFA)., Main Outcome Measures: Probability and gestational age at PND and TOPFA for ART-conceived versus spontaneously conceived fetuses., Results: The probability of PND (28.1% versus 34.6%, P = 0.077) and TOPFA (36.2% versus 39.2%, P = 0.677) were not statistically different between ART-conceived (n = 171) and spontaneously conceived (n = 4620) fetuses. Estimates were similar after adjustment for potential confounders. Gestational age at PND tended to be earlier for ART fetuses (23.1 versus 24.8 weeks, P = 0.05) but no statistical difference was found after adjustment for confounders. Gestational age at TOPFA was comparable between ART-conceived and spontaneously conceived fetuses., Conclusions: In our population, ART conception was not significantly associated with the probability of PND or TOPFA for CHD. One implication of our results is that live births may be adequate for assessing the overall risk of CHD related to ART. However, total prevalence, in particular of severe CHD, would not be adequately assessed if TOPFA are not included., (© 2015 Royal College of Obstetricians and Gynaecologists.)

Objective: To determine risk of Down syndrome (DS) in multiple relative to singleton pregnancies, and compare prenatal diagnosis rates and pregnancy outcome., Design: Population-based prevalence study based on EUROCAT congenital anomaly registries., Setting: Eight European countries., Population: 14.8 million births 1990-2009; 2.89% multiple births., Methods: DS cases included livebirths, fetal deaths from 20 weeks, and terminations of pregnancy for fetal anomaly (TOPFA). Zygosity is inferred from like/unlike sex for birth denominators, and from concordance for DS cases., Main Outcome Measures: Relative risk (RR) of DS per fetus/baby from multiple versus singleton pregnancies and per pregnancy in monozygotic/dizygotic versus singleton pregnancies. Proportion of prenatally diagnosed and pregnancy outcome., Statistical Analysis: Poisson and logistic regression stratified for maternal age, country and time., Results: Overall, the adjusted (adj) RR of DS for fetus/babies from multiple versus singleton pregnancies was 0.58 (95% CI 0.53-0.62), similar for all maternal ages except for mothers over 44, for whom it was considerably lower. In 8.7% of twin pairs affected by DS, both co-twins were diagnosed with the condition. The adjRR of DS for monozygotic versus singleton pregnancies was 0.34 (95% CI 0.25-0.44) and for dizygotic versus singleton pregnancies 1.34 (95% CI 1.23-1.46). DS fetuses from multiple births were less likely to be prenatally diagnosed than singletons (adjOR 0.62 [95% CI 0.50-0.78]) and following diagnosis less likely to be TOPFA (adjOR 0.40 [95% CI 0.27-0.59])., Conclusions: The risk of DS per fetus/baby is lower in multiple than singleton pregnancies. These estimates can be used for genetic counselling and prenatal screening., (© 2014 The Authors. BJOG An International Journal of Obstetrics and Gynaecology published by John Wiley & Sons Ltd on behalf of Royal College of Obstetricians and Gynaecologists.)

Objectives: To estimate the national prevalence and analyse the factors associated with preconceptional folic acid supplementation, including maternal sociodemographic characteristics, region of residence, birth control use and chronic diseases requiring medical care before conception., Design: Cross-sectional population-based study., Setting: All maternity units in France., Population: A nationally representative sample of women giving birth in 2010 (n = 12,646)., Methods: Data came from mothers' interviews 2-3 days after delivery. Statistical analyses included multivariable logistic regressions., Main Outcome Measure: Folic acid supplementation starting at least 1 month before conception., Results: 14.8% (95% confidence interval [95% CI] 14.2-15.4) of women used folic acid before pregnancy; this percentage varied from 10.4% to 18.7% across regions. Supplementation was more frequent in primiparae, French citizens, women with higher educational levels and those needing medical monitoring or treatment before conception. Women who stopped contraception to become pregnant (75% of our population) used folic acid more often (intrauterine device or implant: 19%, pill: 17%, other methods which did not need medical monitoring: 17%) than other women (7%). The adjusted odds ratios were 3.3 (95% CI 2.6-4.3) for intrauterine device and implant, 2.2 (95% CI 1.8-2.6) for pill and 1.9 (95% CI 1.5-2.4) for other methods, compared with women who did not use birth control., Conclusion: The absence of preconceptional folic acid supplementation for most women, even those needing consultations with healthcare professionals before pregnancy, shows that campaigns to promote folic acid supplementation should address not only women but also healthcare professionals involved in birth control and obstetric care before pregnancy., (© 2013 Royal College of Obstetricians and Gynaecologists.)

Objective: To identify pregnancy-related risk factors for different manifestations of congenital anorectal malformations (ARMs)., Design: A population-based case-control study., Setting: Seventeen EUROCAT (European Surveillance of Congenital Anomalies) registries, 1980-2008., Population: The study population consisted of 1417 cases with ARM, including 648 cases of isolated ARM, 601 cases of ARM with additional congenital anomalies, and 168 cases of ARM-VACTERL (vertebral, anal, cardiac, tracheo-esophageal, renal, and limb defects), along with 13 371 controls with recognised syndromes or chromosomal abnormalities., Methods: Multiple logistic regression analyses were used to calculate adjusted odds ratios (ORs) for potential risk factors for ARM, such as fertility treatment, multiple pregnancy, primiparity, maternal illnesses during pregnancy, and pregnancy-related complications., Main Outcome Measures: Adjusted ORs for pregnancy-related risk factors for ARM., Results: The ARM cases were more likely to be firstborn than the controls (OR 1.6, 95% CI 1.4-1.8). Fertility treatment and being one of twins or triplets seemed to increase the risk of ARM in cases with additional congenital anomalies or VACTERL (ORs ranging from 1.6 to 2.5). Maternal fever during pregnancy and pre-eclampsia were only associated with ARM when additional congenital anomalies were present (OR 3.9, 95% CI 1.3-11.6; OR 3.4, 95% CI 1.6-7.1, respectively), whereas maternal epilepsy during pregnancy resulted in a five-fold elevated risk of all manifestations of ARM (OR 5.1, 95% CI 1.7-15.6)., Conclusions: This large European study identified maternal epilepsy, fertility treatment, multiple pregnancy, primiparity, pre-eclampsia, and maternal fever during pregnancy as potential risk factors primarily for complex manifestations of ARM with additional congenital anomalies and VACTERL., (© 2013 The Authors BJOG An International Journal of Obstetrics and Gynaecology © 2013 RCOG.)

Objective: To assess the public health consequences of the rise in multiple births with respect to congenital anomalies., Design: Descriptive epidemiological analysis of data from population-based congenital anomaly registries., Setting: Fourteen European countries., Population: A total of 5.4 million births 1984-2007, of which 3% were multiple births., Methods: Cases of congenital anomaly included live births, fetal deaths from 20 weeks of gestation and terminations of pregnancy for fetal anomaly., Main Outcome Measures: Prevalence rates per 10,000 births and relative risk of congenital anomaly in multiple versus singleton births (1984-2007); proportion prenatally diagnosed, proportion by pregnancy outcome (2000-07). Proportion of pairs where both co-twins were cases., Results: Prevalence of congenital anomalies from multiple births increased from 5.9 (1984-87) to 10.7 per 10,000 births (2004-07). Relative risk of nonchromosomal anomaly in multiple births was 1.35 (95% CI 1.31-1.39), increasing over time, and of chromosomal anomalies was 0.72 (95% CI 0.65-0.80), decreasing over time. In 11.4% of affected twin pairs both babies had congenital anomalies (2000-07). The prenatal diagnosis rate was similar for multiple and singleton pregnancies. Cases from multiple pregnancies were less likely to be terminations of pregnancy for fetal anomaly, odds ratio 0.41 (95% CI 0.35-0.48) and more likely to be stillbirths and neonatal deaths., Conclusions: The increase in babies who are both from a multiple pregnancy and affected by a congenital anomaly has implications for prenatal and postnatal service provision. The contribution of assisted reproductive technologies to the increase in risk needs further research. The deficit of chromosomal anomalies among multiple births has relevance for prenatal risk counselling., (© 2013 The Authors BJOG An International Journal of Obstetrics and Gynaecology © 2013 RCOG.)

Background: In many countries the closure of small maternity units has raised concerns about how the concentration of low-risk pregnancies in large specialized units might affect the management of childbirth. We aimed to assess the role of maternity unit characteristics on obstetric intervention rates among low-risk women in France., Methods: Data on low-risk deliveries came from the 2010 French National Perinatal Survey of a representative sample of births (n = 9,530). The maternity unit characteristics studied were size, level of care, and private or public status; the interventions included induction of labor; cesarean section; operative vaginal delivery (forceps, spatulas or vacuum); and episiotomy. Multilevel logistic regression analyses were adjusted for maternal confounding factors, gestational age, and infant birthweight., Results: The rates of induction, cesarean section, operative delivery, and episiotomy in this low-risk population were 23.9 percent, 10.1 percent, 15.2 percent, and 19.6 percent, respectively, and 52.0 percent of deliveries included at least one of them. Unit size was unrelated to any intervention except operative delivery (adjusted odds ratio [aOR] = 1.47 (95% CI, 1.10-1.96) for units with >3,000 deliveries per year vs units with <1,000). The rate of every intervention was higher in private units, and the aOR for any intervention was 1.82 (95% CI, 1.59-2.08). After adjustment for maternal characteristics and facility size and status, significant variations in the use of interventions remained between units, especially for episiotomies. Results for level of care were similar to those for unit size., Conclusions: The concentration of births in large maternity units in France is not associated with higher rates of interventions for low-risk births. The situation in private units could be explained by differences in the organization of care. Additional research should explore the differences in practices between maternity units with similar characteristics., (© 2012, Copyright the Authors Journal compilation © 2012, Wiley Periodicals, Inc.)

The purpose of this investigation was to study the impact of using various definitions of periodontitis on the frequency of periodontitis and on the associations with some known risk factors for periodontitis in a population of postpartum women in France. A clinical examination was performed within 2-4 d postpartum in 932 at-term women at five maternity units. We studied six definitions of periodontitis; five were applicable if at least two teeth were found to have the following: (i) a proximal clinical attachment level (CAL) of ≥ 3 mm; (ii) a probing depth (PD) of ≥ 4 mm; (iii) a PD of ≥ 4 mm and a CAL of ≥ 3 mm at the same site; (iv) a proximal PD of ≥ 5 mm or a proximal CAL of ≥ 4 mm; or (v) a PD of ≥ 4 mm and a CAL ≥ 3 mm and bleeding on probing at the same site. The sixth definition required the involvement of four teeth with a PD of ≥ 4 mm and a CAL of ≥ 3 mm at the same site. Associations between case status according to each definition and maternal characteristics (age, educational level, smoking before pregnancy, and time since last dental visit) were analyzed using generalized estimating equation models. The definition of periodontitis had an impact on the frequency of periodontitis, which ranged from 12.1% to 37.7%, and produced different ORs for the associations with risk factors for periodontitis., (© 2011 Eur J Oral Sci.)

Aim: To analyse the association between maternal periodontitis and preterm birth (<37 weeks' gestation) according to the causes of preterm birth., Materials and Methods: Epipap is a case-control multi-centre study of singleton livebirths. One thousand one hundred and eight women with preterm deliveries and 1094 with deliveries at term (> or =37 weeks) at six French maternity units were included. Periodontal examinations after delivery identified localized and generalized periodontitis. Cases were classified according to four causes of preterm birth. Polytomous logistic regression analysis was used to control for confounders (maternal age, parity, nationality, educational level, marital status, employment during pregnancy, body mass index before pregnancy, smoking status) and the examiner., Results: Localized periodontitis was identified in 129 (11.6%) cases and in 118 (10.8%) control women and generalized periodontitis in 148 (13.4%) and 118 (10.8%), respectively. A significant association was observed between generalized periodontitis and induced preterm birth for pre-eclampsia [adjusted odds ratio 2.46 [95% confidence intervals (95% CI)1.58-3.83]. Periodontitis was not associated with spontaneous preterm birth or preterm premature rupture of membranes or with the other causes., Conclusion: Maternal periodontitis is associated with an increased risk of induced preterm birth due to pre-eclampsia.

Background: Postpartum depression is a common, severe, yet often undetected condition. Between 10 and 15 percent of new mothers suffer from depressive disorders in the first year after childbirth. The objective of this study was to investigate whether asking women questions about their daily life constituted a useful strategy to detect women at risk of developing psychological distress after childbirth., Methods: A prospective study of 330 first- and second-time mothers was conducted. Structured interviews with women were performed at the maternity unit 1 to 2 days after childbirth, and postal questionnaires were sent to participants 5 months later. An interviewer wrote down her perception of the mood of participants, in the form of three short statements, immediately after the interview. This perception was compared with the score of the woman on the General Health Questionnaire scale, which was included in the 5 months' questionnaire., Results: The interviewer's perception of women's mood was significantly associated with the score on the General Health Questionnaire scale 5 months later. Multivariate analysis showed that the interviewer's perception of anxiety was a better predictor of postpartum psychological distress at 5 months than women's answers to questions about their mood before pregnancy and 1 to 2 days after delivery., Conclusions: Asking the new mother questions about her private and occupational life can be considered as one of many possible ways to improve the identification of women at risk of developing postpartum depression.

Unlabelled: The aim of this study was to assess the development and behaviour of 7-y-old triplets, who were followed from delivery to 7 y of age. The McCarthy Scales of Children's Abilities (MSCA) and Achenbach's Child Behaviour Checklist (CBCL) were used to assess and compare development and behaviour in the triplets and in a control group of singletons. The sample included 33 sets of triplets and 33 singletons, all 7-y-olds, and comparable for sex and fathers' social class. The triplets' scores on the MSCA were all within normal range. Although their mean scores for all subtests were below those of singletons, they did not differ significantly. The mean CBCL scores, based on mothers' reports, indicated that the triplets had significantly fewer behavioural problems than the controls. In half the triplet sets, one child stood out as having more behavioural problems than the others., Conclusion: Further assessments of the development of triplets are needed; these should be based on larger study samples and should use information from teachers and external observers as well as mothers.

Objective: To describe the prevalence of various symptoms five months and twelve months after childbirth in two European countries, according to employment, financial difficulties and relationship with partner., Design: Longitudinal multicentre survey with a similar design in France and Italy. Women were interviewed three times: at birth and twice after childbirth. At 12 months after childbirth, the survey was postal in both countries., Population: Women who had been delivered of their first or second baby in three maternity units in France and five units in Italy. Women who had multiple pregnancies, a stillbirth or known neonatal death were excluded., Results: The response rates were 83% in France and 88% in Italy. Fifteen symptoms were considered. The results were similar in the two countries and showed that the prevalence of most symptoms was higher at 12 months than at five months after childbirth. When their baby was one year old, more than half of the women reported backache, anxiety and extreme tiredness. Around one-third of women reported headache, lack of sexual desire, sleep disorders and depression. Piles, constipation and painful intercourse were also common. One year postpartum women with financial problems or a difficult relationship reported poor psychological health more frequently., Conclusion: Physical and emotional problems are common after birth, and they tend to increase over time. Backache, headache and piles can seriously interfere with day-to-day life. Sexual problems also may be a source of unhappiness for the woman and her partner. Extreme tiredness, anxiety and depression may make a woman feel guilty for not corresponding to the image of a healthy, happy and well-coping mother. There is a link between financial problems or a difficult relationship with her partner and her own wellbeing. Health professionals should be aware of the high prevalence of health problems among new mothers, and of the social context of women who are more likely to suffer from them. They should counsel the women in their care, in order to help them to find the best solution, be it medical or social in nature.