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Epidemiological study of congenital diaphragmatic defects with special reference to aetiology
N Philip1, D Gambarelli, J M Guys
1Department of Medical Genetics, Hôpital d'enfants de la Timone, Marseilles, France.
Insights
Congenital diaphragmatic defects (CDD) have a high mortality rate despite advances. Associated anomalies and fetal lung hypoplasia significantly impact prognosis, necessitating thorough prenatal evaluation.
Area of Science:
- Medical Genetics
- Prenatal Diagnosis
- Pediatric Surgery
Background:
- Congenital diaphragmatic defects (CDD) are detectable via ultrasound.
- Despite improved management, CDD mortality rates remain high.
- Prognosis is primarily influenced by fetal lung hypoplasia and associated malformations.
Purpose of the Study:
- To analyze the outcomes and associated conditions in a cohort of congenital diaphragmatic defect cases.
- To emphasize the importance of comprehensive prenatal workup for congenital diaphragmatic defects.
Main Methods:
- Retrospective review of 77 congenital diaphragmatic defect cases.
- Data collected from 136,161 consecutive births between 1982 and 1988.
- Analysis included associated malformations, chromosomal abnormalities, and Mendelian disorders.
Main Results:
- A spontaneous perinatal mortality rate of 61% was observed.
- Associated congenital anomalies were present in 33 cases (42.8%), more frequent in stillborn infants.
- Chromosomal abnormalities occurred in 11.6% of CDD cases and 27.2% of those with anomalies. Nine cases had Mendelian disorders.
Conclusions:
- Congenital diaphragmatic defects necessitate a systematic prenatal evaluation, including fetal karyotyping.
- Analyzing associated malformations is crucial for adapting pregnancy management and delivery strategies.
- Early and thorough diagnosis improves the management and potential outcomes for infants with CDD.
Abstract:
Congenital diaphragmatic defects (CDD) are easily accessible to ultrasonographic diagnosis. In spite of progress in the management of prenatally detected cases, the mortality rate for CDD remains high. The prognosis depends mainly on the severity of fetal lung hypoplasia but is also linked to the associated malformations. We report on 77 cases of CDD ascertained between 1982 and 1988 from 136,161 consecutive births in the Bouches du Rhône area. The spontaneous perinatal mortality rate was 61% with 28 early post-natal deaths and 14 stillbirths. Eight pregnancies were terminated after prenatal diagnosis. The diaphragmatic defect was associated with other congenital anomalies in 33 cases, more often among stillborn (92.8%) than liveborn infants (23.6%). A chromosomal abnormality was present in 9 cases representing 11.6% of all CDD and in 27.2% of cases with other anomalies. A Mendelian disorder was present in 9 cases (eight Fryns syndrome and one Fraser syndrome). This study underlines the necessity of a systematic work up of prenatally diagnosed cases, including fetal karyotyping and analysis of associated malformations in order to adapt the management of the pregnancy and delivery to the prognosis.