Structural chromosome anomalies in congenital diaphragmatic hernia

In order to determine the outcome and associated chromosomal and structural anomalies in fetuses diagnosed in utero as having a congenital diaphragmatic hernia, we reviewed 48 consecutive cases referred to our regional Fetal Diagnostic Unit between 1988 and 1995. All babies were delivered in units with appropriate neonatal resuscitation facilities. Thirteen babies [34 per cent of those tested, confidence interval (CI) 19-49 per cent] had karyotypic abnormalities. Three had trisomies but the other nine had more complex karyotypic abnormalities including translocations, deletions, and marker chromosomes. Twenty-one fetuses (44 per cent, CI 30-58 per cent) had additional ultrasound abnormalities which affected the heart in ten cases (21 per cent). Overall, 13 babies survived (27 per cent, CI 14-40 per cent). In babies with normal chromosomes and no additional structural abnormalities the survival rate was 50 per cent (CI 25-75 per cent). Poor outcome was not predicted by early gestation at diagnosis, the hernial contents, or the presence of polyhydramnios. We conclude that parents should be counselled about prognosis with information derived from series of prenatally diagnosed diaphragmatic hernias. The investigations offered should include a detailed ultrasound examination, particularly of the heart, and karyotyping by fetal blood sampling.