PRENATAL-DIAGNOSIS OF CONGENITAL DIAPHRAGMATIC-HERNIA NOT AMENABLE TOPRENATAL OR NEONATAL REPAIR - BRACHMANN-DELANGE SYNDROME

Brachmann-de Lange syndrome (BDLS) is a variable multiple congenital a nomaly syndrome that occasionally includes congenital diaphragmatic he rnia (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. Pos tnatal repair in combination with ECMO has resulted in improved neonat al outcome and has been recommended in all cases not having in utero r epair. We describe a fetus diagnosed with a diaphragmatic hernia at 18 weeks of gestation in a woman whose only other pregnancy has been a 1 6 week abortus diagnosed with Fryns syndrome (FS). FS is a lethal, var iable congenital anomaly syndrome that includes CDH, which is thought to contribute to the lethality of the syndrome. In utero repair was co nsidered, but rejected because of the position of the liver and suspec ted FS. The patient elected to carry the pregnancy to term. Postnatal repair with ECMO was considered; however, the infant died at several h ours of age because of severe pulmonary hypoplasia, being considered i neligible for ECMO. The diagnosis of BDLS was made at autopsy and sugg ests that the first case may, in fact, have been BDLS. In spite of rec ent success in the repair of CDH both in et ex utero, CDH in associati on with BDLS is likely lethal, and women with fetuses diagnosed antena tally with CDH and BDLS should be counseled as such. (C) 1993 Wiley-Li ss, Inc.