Associated Malformations and Chromosomal Defects in Congenital Diaphragmatic Hernia

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.

Mouse lackingCOUP-TFIIas an animal model of Bochdalek-type congenital diaphragmatic hernia

“…Patients with deletions of 15q commonly exhibit intrauterine growth retardation and other multiple anomalies, including edema, short limbs, atrial and ventricular septal defects, vascular defects, and renal malformations (8,9,28). Some of these nondiaphragmatic defects have also been observed in other COUP-TFII mouse models.…”

Infants with Bochdalek diaphragmatic hernia: Sibling precurrence and monozygotic twin discordance in a hospital‐based malformation surveillance program

“…Sibling precurrence-Several series mention the birth of prior siblings affected with CDH [Torfs et al, 1992;Bollmann et al, 1995;Dillon et al, 2000;Tonks et al, 2004]. However, only two prior studies have examined occurrence in families from a systematic series of infants with CDH [David and Illingworth, 1976;Czeizel and Kovacs, 1985].…”

“…Chromosome abnormalities and CDH-Using standard techniques chromosome abnormalities have been detected, on average, in ∼10% of cases with CDH [ Thorpe-Beeston et al, 1989;Philip et al, 1991;Bollmann et al, 1995;Howe et al, 1996;Faivre et al, 1998;Garne et al, 2002;Tonks et al, 2004]. Examples of commonly detected abnormalities include trisomy 18, trisomy 21, trisomy 13, tetrasomy 12p, +der 22 t(11;22), 8p-, and 4p- [Pecile et al, 1990;Howe et al, 1996;Faivre et al, 1998;Lurie, 2003;Borys and Taxy, 2004;Tonks et al, 2004;van Dooren et al, 2004].…”

Retinoid Pathway and Congenital Diaphragmatic Hernia: Hypothesis from the Analysis of Chromosomal Abnormalities

“…Chromosomal abnormalities were identified in approximately 10-20% of CDH cases, the rate being higher in cases with associated malformations [24][25][26][27][28] . The existence of several chromosome 'hot spots' suggests the presence of genes that cause or predispose one to the development of CDH in these regions.…”