Associated malformations in congenital diaphragmatic hernia.
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.
Department of Obstetrics and Gynecology, Mannheim University Hospital, Mannheim, Germany.
Inka
I
Zaiss
Sven
S
Kehl
Katharina
K
Link
Wolfgang
W
Neff
Thomas
T
Schaible
Marc
M
Sütterlin
Jörn
J
Siemer
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000235:genetics / Q000401:mortality*; D000025:Abortion, Eugenic; D000293:Adolescent; D000328:Adult; D002869:Chromosome Aberrations; D002887:Chromosomes, Human, Pair 18; D041321:Chromosomes, Human, X; D015199:Extracorporeal Membrane Oxygenation; D005260:Female; D006548:Hernia, Diaphragmatic / Q000000981:diagnostic imaging / Q000235:genetics / Q000401:mortality*; D065630:Hernias, Diaphragmatic, Congenital; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D009006:Monosomy; D011247:Pregnancy; D012729:Sex Chromosome Aberrations; D015996:Survival Rate; D014314:Trisomy; D016216:Ultrasonography, Prenatal; D055815:Young Adult