Postnatal diagnosis of congenital anomalies despite active systematic prenatal screening policies: a population-based registry study

Monier, Isabelle; Lelong, Nathalie; Benachi, Alexandra; Jouannic, Jean-Marie; Khoshnood, Babak; Zeitlin, Jennifer

doi:10.1016/j.ajogmf.2023.101170

Cited by 3 publications

(1 citation statement)

References 40 publications

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“…Overall survival rates are still low, ranging from 65-85% (1,2,3,4). The prenatal detection rate with obstetrical ultrasound for CDH will vary depending on the setting but in average is approximately 60-80% (4,5). Due to the heterogeneity of this malformation, it is di cult to accurately predict outcomes in individual cases (6, 7).…”

Section: Introductionmentioning

confidence: 99%

Hydrops and Congenital Diaphragmatic Hernia: Reported incidence and postnatal outcomes. Analysis of the CDHSG Registry

Burgos,

Ebanks,

Löf-Granström

et al. 2024

Preprint

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Obejctive: Congenital Diaphragmatic Hernia (CDH) associated with hydrops is rare. The aim of this study was to describe the incidence of this combination of anomalies and the postnatal outcomes from a large database for CDH. Study design: Data from the multicenter, multinational database on infants with prenatally diagnosed CDH (CDHSG Registry) born from 2015 to 2021 were analyzed. Results: A total of 3985 patients were entered in the registry during the study period, 3156 were prenatally diagnosed and 88 were reported to have associated fluid in at least 1 compartment, representing 2.8 % of all prenatally diagnosed CDH cases in the registry. The overall survival to discharge for CDH patients with hydrops was 43%. The hydropic CDH group had lower birth weight and gestational age at birth, and increased incidence of right sided CDH (55%) and rate of non-repair (45%). However, the survival rate for hydropic infants with CDH undergoing surgical repair was 80%. Other associated anomalies were more common in hydropic CDH (50% vs 37%, p=0.001). Conclusion: Hydropic CDH is rare, only 2.8% of all prenatally diagnosed cases, and more commonly occurring in right sided CDH. Survival rates are low, with higher rates of non-repair. However, early decision-making regarding goals of care and an aggressive surgical approach may result in survival rates comparable to non-hydropic cases.

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Section: Introductionmentioning

confidence: 99%

Hydrops and Congenital Diaphragmatic Hernia: Reported incidence and postnatal outcomes. Analysis of the CDHSG Registry

Burgos,

Ebanks,

Löf-Granström

et al. 2024

Preprint

View full text Add to dashboard Cite

show abstract

Hydrops and congenital diaphragmatic hernia: reported incidence and postnatal outcomes. Analysis of the congenital diaphragmatic hernia study group registry

Mesas Burgos,

Ebanks,

Löf-Granström

et al. 2024

J Perinatol

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Objective Congenital Diaphragmatic Hernia (CDH) associated with hydrops is rare. The aim of this study was to describe the incidence of this combination of anomalies and the postnatal outcomes from a large database for CDH. Study design Data from the multicenter, multinational database on infants with prenatally diagnosed CDH (CDHSG Registry) born from 2015 to 2021 were analyzed. Results A total of 3985 patients were entered in the registry during the study period, 3156 were prenatally diagnosed and 88 were reported to have associated fluid in at least 1 compartment, representing 2.8% of all prenatally diagnosed CDH cases in the registry. The overall survival to discharge for CDH patients with hydrops was 43%. The hydropic CDH group had lower birth weight and gestational age at birth, and increased incidence of right-sided CDH (55%), and rate of non-repair (45%). However, the survival rate for hydropic infants with CDH undergoing surgical repair was 80%. Other associated anomalies were more common in hydropic CDH (50% vs 37%, p = 0.001). Conclusion Hydropic CDH is rare, only 2.8% of all prenatally diagnosed cases, and more commonly occurring in right-sided CDH. Survival rates are low, with higher rates of non-repair. However, decision-making regarding goals of care and an aggressive surgical approach in selected cases may result in survival rates comparable to non-hydropic cases.

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Optimal Strategies for Screening Common Birth Defects in Children of Low- and Middle-Income Countries: A Systematic Review

Zaki,

Qazi,

Shamim

et al. 2024

Neonatology

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Introduction: Congenital anomalies are one of the major causes of the global burden of diseases, and low- and middle-income countries (LMICs) are disproportionately affected. This review assesses the prenatal and postnatal screening methods and compares the prevalence of major congenital anomalies in LMICs. Methodology: We conducted a systematic search in MEDLINE/PubMed, CINAHL, Cochrane databases of systematic reviews, clinical trials.gov for relevant studies using Medical Subject Headings and keywords. We categorized the studies into different systems and screening methods depending on the time the tests were conducted (prenatal or postnatal). The studies were then subjected to detailed descriptive analysis. Results: A total of 59 studies were selected for analysis; these focused on screening methods for congenital anomalies and compared their prevalence with regards to different systems. The most common screening techniques both prenatal and postnatal included antenatal ultrasound, fetal echocardiography, pulse oximetry, and clinical examination. The most common congenital abnormalities involved the central nervous system (neural tube defects) and musculoskeletal (clubfoot), followed by gastrointestinal (omphalocele and gastroschisis) and cardiovascular (structural heart defect). Overall, different systems had varying prevalences of different birth defects, ranging from 0.28 to 8.5%. In contrast, the prevalence of musculoskeletal system disorders varied from 1.01% to 3.96%, in the cardiovascular system from 0.57% to 10.4%, and in the urogenital group from 0.83% to 5.9%. Conclusion: The review highlights the lack of screening programs and studies, especially in the primary and secondary care settings in LMICs, and limited studies do indicate a high burden of various congenital anomalies. There is a need for guidelines and programs in global maternal and child health programs to include timely screening and management of common birth defects in LMICs.

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Postnatal diagnosis of congenital anomalies despite active systematic prenatal screening policies: a population-based registry study

Cited by 3 publications

References 40 publications

Hydrops and Congenital Diaphragmatic Hernia: Reported incidence and postnatal outcomes. Analysis of the CDHSG Registry

Hydrops and Congenital Diaphragmatic Hernia: Reported incidence and postnatal outcomes. Analysis of the CDHSG Registry

Hydrops and congenital diaphragmatic hernia: reported incidence and postnatal outcomes. Analysis of the congenital diaphragmatic hernia study group registry

Optimal Strategies for Screening Common Birth Defects in Children of Low- and Middle-Income Countries: A Systematic Review

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