Associated Malformations in Congenital Diaphragmatic Hernia

Abstract

Congenital diaphragmatic hernia (CDH) is a severe neonatal anomaly. The aim of this study was to evaluate the frequency and types of malformations associated with CDH. The outcome was compared with that in newborns with CDH alone. The study included 362 fetuses and newborns at a single national center for CDH. Associated malformations and chromosomal aberrations were noted prenatally and postnatally. The neonatal outcome was assessed relative to the use of extracorporeal membrane oxygenation (ECMO) and the mortality rate. At least one associated malformation was diagnosed in 143 cases (39.5%). Altogether, 272 associated malformations were found. Only 50 (18.4%) anomalies were diagnosed antenatally. In 62 (17.1%) cases, 102 major malformations were found along with CDH, with a prenatal detection rate of 35.3%. The associated malformations were very heterogeneous, but cardiovascular malformations were the most common. Newborns with major anomalies, chromosomal aberrations, or syndromes additional to CDH had a significantly lower survival rate than newborns with an isolated CDH. Associated malformations did not affect the rate of ECMO treatment. Associated malformations in CDH are frequent and heterogeneous, and diligent and experienced antenatal and postnatal care is important.

Predictors of neonatal morbidity in fetuses with severe isolated congenital diaphragmatic hernia undergoing fetoscopic tracheal occlusion

“…The FETO procedure has been described in detail 22,23,28 . Briefly it consists of the percutaneous fetoscopic insertion of a balloon into the fetal trachea, which in general is performed at approximately 26-28 (range, [23][24][25][26][27][28][29][30][31][32][33] weeks' gestation. The balloon is preferentially removed in utero at approximately 34 weeks by tracheoscopy or ultrasound-guided puncture.…”

Delayed Presentation of Congenital Diaphragmatic Hernia as Heart Failure

“…Other tests that may help as adjuvants to the diagnosis include ABG studies, serum lactate, electrolytes, renal ultrasound and cardiac echo [7]. These extra imaging tests may be done to rule out other medical syndromes, as at least 10% of CDHs have been documented to be associated with syndromes [8] such as Cornelia de Lange, Fryns syndrome [9], Turner syndrome and Pallister-Killian syndrome.…”

Antenatally diagnosed congenital diaphragmatic hernia in Singapore: a five-year series

“…(10,(25)(26)(27) To aid parents in their decision-making process on whether to carry on with the pregnancy, associated anomalies should be investigated in fetuses diagnosed with CDH. The outcomes of pregnancies with CDH in our study were similar to that in studies by…”