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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.)

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.)

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.