risk factors of neonatal respiratory distress for newborns with prenatally diagnosed congenital lung malformations

Conditions: Foetus With Congenital Pulmonary Malformation

Summary: this research focuses on lung malformations detected in fetuses during prenatal ultrasound exams. pathogenic mechanisms of these rare malformations are poorly understood. improved knowledge is needed, to give families better information, and to better standardize treatment decisions the main goal is to better predict neonatal complications associated with these malformations, by identifying key predictive markers during the fetal period. to achieve this objective, it is planned to include 400 pregnant women with prenatal diagnosis of pulmonary malformation in 45 health centers in france. this is the largest study on this topic at the international level.

the main objective of the study is to develop a prognostic model for estimating the risk of neonatal respiratory distress in children with prenatally diagnosed congenital pulmonary malformation. the study will be offered to all pregnant women referred to a center for prenatal diagnosis (cpd), due to the identification of a congenital lung malformations in the fetus. this study does not induce any changes in clinical and therapeutic monitoring proposed by the team in charge of the mother. at inclusion, and at each prenatal evaluation, prenatal parameters are entered in an e-crf. in an effort to minimize any potential intra- and interoperator variability in malformation measurements over time, this study includes a standardized and centralized evaluation of ultrasound and mri (if available) acquisitions of volume measurements. when the place of delivery is determined, a contact is made before birth with the teams (maternity, neonatology, intensive care unit), so that neonatal data are also collected prospectively. a phone call to the family is planned for the end of the first postnatal month, to identify any respiratory event that would have occurred between returning home after childbirth and the first month. the routine follow-up of these children is then ensured in accordance with current national recommendations, in conjunction with the reference centers for rare respiratory diseases in children (28 university hospitals, spread across all regions of france). a telephone survey every 6 months with the referring physician in this specialized center or, alternatively, with the family, will collect clinical outcome until the age of 2 years. if a surgical intervention is planned within this interval, consent to collect part of the surgical specimen for research purposes will be solicited. this tissue will be immediately frozen at -80 ° c, to allow laser microdissection and dna extraction from epithelial cells lining the malformation (inserm u955). frozen tissue will be conserved at the biobank of necker-enfants malades.

Eligibility criteria:
inclusion criteria: * prenatal identification of a congenital pulmonary malformation (hyperechoic and/or cystic pulmonary lesion) * consent of the mother for participation to the study exclusion criteria: - absence of consent for participation

Keywords: neonatal respiratory distress prenatal lung malformation kras mutation pregnant woman