Publications

Abstract

ackground: Postnatal steroids (PNS) have been used to prevent bronchopulmonary dysplasia (BPD) in preterm infants but have potential adverse effects on neurodevelopment. These effects might be modulated by their risk of BPD. We aimed to compare patients’ neurodevelopment with PNS treatment according to their risk of BPD in a European cohort.

Methods: We developed a prediction model for BPD to classify infants born between 24 + 0 and 29 + 6 weeks of gestation in three groups and compared patients’ neurological outcome at two years of corrected age using the propensity score (PS) method.

Results: Of 3662 neonates included in the analysis, 901 (24.6%) were diagnosed with BPD. Our prediction model for BPD had an area under the ROC curve of 0.82. In the group with the highest risk of developing BPD, PNS were associated with an increased risk of gross motor impairment: OR of 1.95 after IPTW adjustment (95% CI 1.18 to 3.24, p = 0.010). This difference existed regardless of the type of steroid used. However, there was an increased risk of cognitive anomalies for patients treated with dexa/betamethasone that was no longer observed with hydrocortisone.

Conclusions: This study suggests that PNS might be associated with an increased risk of gross motor impairment regardless of the group risk for BPD. Further randomised controlled trials exploring the use of PNS to prevent BPD should include a risk-based evaluation of neurodevelopmental outcomes. This observation still needs to be confirmed in a randomised controlled trial.

No abstract available.

Abstract

Introduction: Children born very preterm have an immature sucking reflex at birth and are exposed to neonatal care that can impede proper palate growth.

Objectives: We aimed to describe the frequency of high-arched palate and posterior crossbite at the age of 5 in children born very preterm and to identify their respective risk factors.

Methods: Our study was based on the data from EPIPAGE-2, a French national prospective cohort study, and included 2,594 children born between 24- and 31-week gestation. Outcomes were high-arched palate and posterior crossbite. Multivariable models estimated by generalized estimation equations with multiple imputation were used to study the association between the potential risk factors studied and each outcome.

Results: Overall, 8% of children born very preterm had a high-arched palate and 15% posterior crossbite. The odds of high-arched palate were increased for children with low gestational age (24-29 vs. 30-31 weeks of gestation) [adjusted odds ratio (aOR) 1.76, 95% confidence interval (CI) 1.17, 2.66], thumb-sucking habits at the age of 2 (aOR 1.53, 95% CI 1.03, 2.28), and cerebral palsy (aOR 2.18, 95% CI 1.28, 3.69). The odds of posterior crossbite were increased for children with pacifier-sucking habits at the age of 2 (aOR 1.75, 95% CI 1.30, 2.36).

Conclusions: Among very preterm children, low gestational age and cerebral palsy are the specific risk factors for a high-arched palate. High-arched palate and posterior crossbite share non-nutritive sucking habits as a common risk factor. The oro-facial growth of these children should be monitored.

Abstract

We report the 5^1/2 year prevalence of visual and oculomotor impairments in preterm children born at 24-34 weeks’ gestation (WG) using the population-based cohort study EPIPAGE-2, set in France, 2011. The main outcomes were imputed prevalence of refractive errors (REs), strabismus, and binocular visual acuity (VA). Children were clinically assessed by specially trained pediatricians. The population was also analyzed in terms of cerebral palsy at 5^1/2 years (no CP, stage 1, stage 2, or stage 3-5) and retinopathy of prematurity in the neonatal period (no ROP, stage 1 or 2, or severe ROP). Among the 4441 children included, 2718 (weighted percentage 58.7%) were clinically assessed. REs were reported in 43.1% (95% confidence interval 37.6-48.4), 35.2% (32.7-37.6), and 28.4% (25.0-31.8) of children born at 24-26, 27-31, and 32-34 WG (p < 0.01), respectively; strabismus rates were 19.5% (14.6-24.4), 14.8% (12.9-16.7), and 8.3% (6.2-10.4) (p < 0.001), respectively. Moderate/severe visual deficiencies (VA < 3.2/10) were present in 1.7% (0.2-3.3) of children born at 24-26 WG, and in less than 1% in other groups. A suboptimal VA 5/10-6.3/10 was measured in 40.6% (35.3-45.8) of children born at 24-26 WG, 35.8% (33.5-38.1) at 27-31 WG, and 33.7% (30.4-37.0) at 32-34 WG. CP and ROP were associated with strabismus and RE. The association between CP and VA was strong, while it was not observed for ROP. In this large cohort of preterm-born children, we found a high prevalence of RE and strabismus regardless of WG, supporting the need for specific attention in this population. High prevalence of suboptimal VA could be challenging for these children at the age of reading and writing acquisition.

Abstract

Objective: The recent recrudescence of syphilis among women of childbearing age is associated with an increasing number of cases of congenital syphilis. We aimed to summarize the fetal and neonatal abnormalities due to congenital syphilis infection, particularly signs amenable to prenatal diagnosis.

Methods: Eligible studies were retrieved from the PubMed collection database. Articles focusing on postnatal and antenatal abnormalities covered the periods from 1969 to 2019 and 1975-2019, respectively. This review included cohort studies, case series and case reports reporting findings regarding congenital syphilis infections described before and/or after birth. Articles were reviewed by three experts in prenatal diagnosis, and all findings were classified as amenable or not amenable to prenatal diagnosis.

Results: A total of 432 cases of congenital syphilis infection were reported. Abnormalities were described antenatally in 161 cases, postnatally in 319 cases, and in both the antenatal and postnatal periods in 57 cases. The most frequently reported signs amenable to prenatal diagnosis were abdominal abnormalities (hepatomegaly, splenomegaly, and bowel abnormalities), fetal growth restriction, and elevated middle cerebral artery peak systolic velocity in the context of ascites or atypical hydrops. Brain abnormalities were rare and never isolated. In the neonatal period, the most common abnormalities were hepatosplenomegaly, bone damage and skin lesions.

Conclusion: We found that no individual sonographic sign or pattern of signs is pathognomonic for fetal syphilis. In fetuses with ultrasound abnormalities suggestive of congenital infection, syphilis must be considered as part of the work-up.

Abstract

During pregnancy early third trimester immunization against SARS‐CoV‐2 confers optimal immunity to the neonate.

No abstract available

Abstract

Introduction: The aim of the study was to identify the obstetric risk factors for hypoxic-ischemic encephalopathy (HIE) in infants with asphyxia at birth.

Material and methods: This multicenter case-control study covered the 5-year period from 2014 through 2018 and included newborns ≥36 weeks of gestation with an umbilical pH at birth ≤7.0. Cases were newborns who developed moderate or severe HIE; they were matched with controls with pH ≤7.0 at birth over the same period without moderate or severe HIE. The factors studied were maternal, gestational, intrapartum, delivery-related, and neonatal characteristics. A multivariable analysis was performed to study the maternal, obstetric, and neonatal factors independently associated with moderate or severe HIE.

Results: Our review of the records identified 41 cases and 98 controls. Compared with controls, children with moderate or severe HIE had a lower 5-min Apgar score, lower umbilical artery pH, and higher cord lactate levels at birth and at 1 h of life. Obstetric factors associated with moderate or severe HIE were the occurrence of an acute event (adjusted odds ratio [aOR] 6.4; 95% confidence interval [CI] 1.8-22.5), maternal fever (aOR 3.5; 95% CI 1.0-11.9), and thick meconium during labor (aOR 2.9; 95% CI 1.0-8.6).

Conclusions: HIE is associated with a lower 5-min Apgar score and with the severity of acidosis at birth and at 1 h of life. In newborns with a pH <7.0 at birth, the occurrence of an acute obstetric event, maternal fever, and thick meconium are independent factors associated with moderate or severe HIE.

Abstract

Context: Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disease caused by mutations in the tumor suppressor gene MEN1. The uncertainty of pathogenicity of MEN1 variants complexifies the selection of the patients likely to benefit from specific care.

bjective: MEN1-mutated patients should be offered tailored tumor screening and genetic counseling. We present a patient with hyperparathyroidism for whom genetic analysis identified a variant of uncertain significance in the MEN1 gene (NM_130799.2): c.654G > T p.(Arg218=). Additional functional genetic tests were performed to classify the variant as pathogenic and allowed prenatal testing.

Design: Targeted next generation sequencing identified a synonymous variant in the MEN1 gene in a 26-year-old male with symptomatic primary hyperparathyroidism. In silico and in vitro genetic tests were performed to assess variant pathogenicity.

Results: Genetic testing of the proband’s unaffected parents showed the variant occurred de novo. Transcript study showed a splicing defect leading to an in-frame deletion. The classification of the MEN1 variant as pathogenic confirmed the diagnosis of MEN1 and recommended an adapted medical care and follow-up. Pathogenic classification also allowed to propose a genetic counseling to the proband and his wife. Noninvasive prenatal diagnosis was performed with a personalized medicine-based protocol by detection of the paternally inherited variant in maternal plasmatic cell free DNA, using digital PCR.

Conclusion: We showed that functional genetic analysis can help to assess the pathogenicity of a MEN1 variant with crucial consequences for medical care and genetic counseling decisions.

Abstract

Background: Inadequate or excessive gestational weight gain (GWG) is associated with adverse maternal and neonatal outcomes. Little is known on adequacy of GWG in migrant women. This study investigates whether migrant women in France are at higher risk of inadequate or excessive GWG, and what characteristics are associated with GWG in migrant and non-migrant groups.

Methods: We used data from the PreCARE multicentric prospective cohort (N=10 419). The study includes 5403 women with singleton deliveries, with non-migrant (n=2656) and migrant (n=2747) status. We used multinomial logistic regression, adjusting for maternal age and parity, to investigate the association of migrant status, socioeconomic status-related variables and GWG. In stratified analyses, we identified factors associated with GWG in both groups.

Results: Compared with non-migrant women, migrant women had increased risk of inadequate GWG (adjusted odds ratio (aOR) 1.18; 95% CI 1.03 to 1.34). Non-migrant women with foreign origins had increased risk of excessive GWG (aOR 1.58; 95% CI 1.30 to 1.92). Women born in Sub-Saharan Africa had increased risk of both inadequate and excessive GWG. Regardless of migration status, women with lower education and women who did not start pregnancy with a normal weight were less likely to gain adequately. Inadequate prenatal care was associated with inadequate GWG only among non-migrant women.

Conclusion: Migrant women are at higher risk of inadequate GWG.