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Associated malformations and chromosomal defects in congenital diaphragmatic hernia
1Department of Prenatal Diagnosis and Therapy, Charité Hospital, Humboldt University, Berlin, Germany.
Insights
Congenital diaphragmatic hernia (CDH) often presents with associated malformations and chromosomal defects, particularly when detected prenatally. Early diagnosis and genetic testing are crucial for assessing prognosis in affected infants.
Area of Science:
- Medical Genetics
- Pediatric Surgery
- Prenatal Diagnosis
Background:
- Congenital diaphragmatic hernia (CDH) is a serious birth defect.
- Understanding associated anomalies and chromosomal defects is vital for patient management and prognosis.
Purpose of the Study:
- To determine the frequency of associated malformations and chromosomal defects in patients with congenital diaphragmatic hernia (CDH).
- To compare prenatal and postnatal findings in CDH cases.
- To evaluate the impact of associated anomalies on survival rates.
Main Methods:
- Retrospective review of 33 fetuses with CDH diagnosed prenatally and 11 neonates with CDH diagnosed postnatally.
- Detailed ultrasound examinations were performed for prenatal cases.
- Cytogenetic analysis was conducted for chromosomal evaluation.
Main Results:
- 72.7% of prenatally diagnosed CDH cases had extradiaphragmatic malformations affecting multiple systems.
- 18.1% of fetuses with CDH had chromosomal abnormalities, including trisomy 18.
- Postnatally diagnosed CDH cases showed fewer associated malformations (36.3%) and normal karyotypes.
- Survival rates were significantly lower for CDH with associated anomalies (7.1%) compared to isolated CDH (43.7%).
Conclusions:
- Associated malformations and chromosomal defects are common in congenital diaphragmatic hernia, especially with prenatal diagnosis.
- Prenatal ultrasound findings suggestive of CDH warrant further detailed examination and cytogenetic analysis.
- The presence of associated anomalies significantly impacts survival in CDH patients.
Abstract:
In order to determine the frequency of associated malformations and chromosomal defects in patients with congenital diaphragmatic hernia (CDH) our experiences with CDH during the last 8 years (1985-1993) were reviewed. During the study period, 33 fetuses (prenatal group) with CDH were examined at our level III ultrasound department. In the same period 11 neonates (postnatal group) were admitted to our pediatric surgical unit after postnatal diagnosis of a CDH. Those cases had not been suspicious for CDH during prenatal level I scan. In 24 (72.7%) of the cases with CDH seen prenatally, at least one or more extradiaphragmatic malformations could be detected. Most of them affected the cardiovascular, skeletal, genitourinary and nervous system. Six (18.1%) fetuses had chromosomal abnormalities, especially trisomy 18. In contrast to these findings just 4 of the 11 babies (36.3%) seen postnatally had associated malformations and all of them had a normal chromosome set. Survival rate of fetuses with CDH and associated anomalies (7.1%) was poor, in contrast to those with an isolated CDH (43.7%). Prenatal ultrasound investigations being suspect for CDH should encourage the clinician to make further diagnostical efforts. This includes detailed ultrasound examination and cytogenetic analysis. Associated malformations as well as chromosomal defects are often present in affected patients.