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Congenital diaphragmatic hernia: prenatal diagnosis, outcome and continuing morbidity in survivors
C L Huddy1, P A Boyd, A R Wilkinson
1Department of Paediatrics, University of Oxford, John Radcliffe Hospital, UK.
Insights
Congenital diaphragmatic hernia (CDH) has high mortality and morbidity, with 56% survival for live-born infants and 61% of survivors experiencing chronic disorders. Prenatal diagnosis and counselling are crucial for managing CDH outcomes.
Area of Science:
- Medical research
- Obstetrics and Gynecology
- Pediatric Surgery
Background:
- Congenital diaphragmatic hernia (CDH) is a serious birth defect with significant implications for infant survival and long-term health.
- Accurate prenatal diagnosis and understanding of associated morbidities are essential for effective management and parental counselling.
Purpose of the Study:
- To investigate the accuracy of prenatal diagnosis for congenital diaphragmatic hernia (CDH).
- To determine the pregnancy outcomes and survival rates for infants with CDH.
- To assess the long-term morbidity in survivors of CDH to improve prenatal counselling.
Main Methods:
- A cohort study was conducted involving babies diagnosed with CDH between January 1991 and December 1996.
- Data on prenatal diagnosis, associated anomalies, pregnancy outcomes, and infant health were collected from hospital records and physician reports.
- Key outcomes measured included the accuracy of prenatal diagnosis, survival rates, and the presence of ongoing morbidity in survivors.
Main Results:
- Of 35 pregnancies with CDH, 9 were not diagnosed prenatally. Isolated CDH had a high rate of termination or death (12/22).
- Overall survival for infants born alive with CDH was 56% (13/23).
- A significant proportion of survivors (61%) experienced chronic health issues, including respiratory problems, developmental delay, and feeding difficulties.
Conclusions:
- Congenital diaphragmatic hernia (CDH) is associated with substantial mortality and morbidity, even with advances in neonatology.
- The study highlights the need for comprehensive prenatal diagnosis and counselling that accurately reflects the risks and long-term challenges of CDH.
- Improved understanding of CDH outcomes is vital for supporting affected families.
Objective:
To improve counselling by investigating the prenatal diagnosis, outcome and morbidity in survivors of congenital diaphragmatic hernia.
Setting:
Prenatal Diagnosis Unit, Oxford Radcliffe Women's Centre, Oxford.
Design:
Cohort study.
Sample:
Babies with congenital diaphragmatic hernia diagnosed postnatally and born to women scanned prenatally identified between January 1991 and December 1996.
Methods:
Associated anomalies, outcome of pregnancy and final diagnoses were determined from hospital records. A report from the general practitioner and paediatrician recorded health and development information.
Main Outcome Measures:
Accuracy of prenatal diagnosis, survival of cases of congenital diaphragmatic hernia and presence of ongoing morbidity in survivors.
Results:
There were 35 pregnancies with congenital diaphragmatic hernia, nine of which were not diagnosed prenatally. In 22 pregnancies with isolated congenital diaphragmatic hernia, four were terminated, there were six perinatal deaths and two later deaths. Thirteen of 35 cases (37%) with congenital diaphragmatic hernia were associated with other abnormalities: four with abnormal karyotype and nine with other structural anomalies. Five of these women continued with their pregnancy; there were two neonatal deaths and three survivors. Thirteen of 35 infants (37%) survived, eight with chronic disorders requiring specialist intervention including respiratory problems (n = 6); developmental delay (n = 4); poor growth (n = 5); artificial feeding (n = 3); gastro-oesophageal reflux (n = 3); recurrent hospital admissions (n = 6); and further surgery (n = 4).
Conclusions:
The survival for infants born alive with congenital diaphragmatic hernia was 56% (13/23), 61% of whom have persistent disorders. Despite advances in neonatology there is a high mortality and morbidity with congenital diaphragmatic hernia. Prenatal counselling should reflect this.