Prenatal diagnosis of congenital diaphragmatic hernia not amenable to prenatal or neonatal repair: Brachmann‐de Lange syndrome

Abstract

Brachmann-de Lange syndrome (BDLS) is a variable multiple congenital anomaly syndrome that occasionally includes congenital diaphragmatic hernia (CDH). CDH per se is commonly diagnosed antenatally and has been corrected with increasing success in utero and by neonatal repair with extracorporeal membrane oxygenation (ECMO). In utero repair requires normal karyotype as well as the absence of other lethal anomalies. Postnatal repair in combination with ECMO has resulted in improved neonatal outcome and has been recommended in all cases not having in utero repair. We describe a fetus diagnosed with a diaphragmatic hernia at 18 weeks of gestation in a woman whose only other pregnancy has been a 16 week abortus diagnosed with Fryns syndrome (FS). FS is a lethal, variable congenital anomaly syndrome that includes CDH, which is thought to contribute to the lethality of the syndrome. In utero repair was considered, but rejected because of the position of the liver and suspected FS. The patient elected to carry the pregnancy to term. Postnatal repair with ECMO was considered; however, the infant died at several hours of age because of severe pulmonary hypoplasia, being considered ineligible for ECMO. The diagnosis of BDLS was made at autopsy and suggests that the first case may, in fact, have been BDLS. In spite of recent success in the repair of CDH both in et ex utero, CDH in association with BDLS is likely lethal, and women with fetuses diagnosed antenatally with CDH and BDLS should be counseled as such.

Prenatal Diagnosis of a ‘Minor’ Form of Brachmann-de Lange Syndrome by Three-Dimensional Sonography and Three-Dimensional Computed Tomography

“…Other abnormalities have been reported, such as occasionally bilateral diaphragmatic hernia, a single umbilical artery, or unilateral pyelectasis [10,12,13,21]. The combination of a diaphragmatic hernia and upper limb malformations in a fetus should raise the clinical suspicion of BdLS [21].…”

Identification of a prenatal profile of Cornelia de Lange syndrome (CdLS): A review of 53 CdLS pregnancies

“…Only nine of these were given a prenatal clinical diagnosis of CdLS, based mainly on a pattern of ultrasound findings that included IUGR, limb anomalies, characteristic facial findings, congenital diaphragmatic hernias (CDH) or congenital heart defects (CHD) [Goolsby et al, 1995; Manouvrier et al, 1996; Ackerman and Gilbert-Barness, 1997; Ranzini et al, 1997; Boog et al, 1999; Urban and Hartung, 2001; Lee et al, 2002; Le Vaillant et al, 2004; Price et al, 2005]. Twenty additional cases describe pregnancies with abnormal findings that resulted in a child diagnosed with CdLS at birth [Lacourt et al, 1977; Bruner and Hsia 1990; Drolshagen et al, 1992; Cunniff et al, 1993; Jelsema et al, 1993; Manouvrier et al, 1996; Sekimoto et al, 2000; Huang and Porto, 2002; Marino et al, 2002; Applewhite et al, 2003; Arbuzova et al, 2003; Hulinsky et al, 2005; Niu et al, 2006; Kennelly and Moran, 2007]. While IUGR is almost universal in classic CdLS [Kliewer et al, 1993], it may not occur until late gestation, or be absent.…”

Deletion of 8p23.1 with features of Cornelia de Lange syndrome and congenital diaphragmatic hernia and a review of deletions of 8p23.1 to 8pter ? A further locus for Cornelia de Lange syndrome

“…It is characterized by facial dysmorphisms, hirsutism, limb abnormalities, ranging from limb reduction defects to subtle phalangeal abnormalities, internal organ abnormalities, including diaphragmatic hernia [Lachman et al, 1981;Fryns 1987;Cunniff et al, 1993;Jelsema et al, 1993;Pankau and Janig 1993;Golsby et al, 1995;Martinez-Frias et al, 1998;Marino et al, 2002], impaired growth and mentation. Many affected individuals demonstrate autistic and self-destructive tendencies.…”