Prenatal detection and outcome of congenital diaphragmatic hernia (CDH) associated with deletion of chromosome 15q26: two patients and review of the literature.
Congenital diaphragmatic hernia (CDH) is a severe birth defect characterized by a defect in the diaphragm with pulmonary hypoplasia and postnatal pulmonary hypertension. Approximately 50% of CDH cases are associated with other non-pulmonary congenital anomalies (so called non-isolated CDH) and in 5-10% of cases there is a chromosomal etiology. The majority of CDH cases are detected prenatally. In some cases prenatal chromosome analysis reveals a causative chromosomal anomaly, most often aneuploidy. Deletion of 15q26 is the most frequently described structural chromosomal aberration in patients with non-isolated CDH. In this paper we report on two patients with a deletion of 15q26 and phenotypes similar to other patients with CDH caused by 15q26 deletions. This phenotype consists of intra-uterine growth retardation, left-sided CDH, cardiac anomalies and characteristic facial features, similar to those seen in Fryns syndrome. We propose that when this combination of birth defects is identified, either pre- or postnatally, further investigations to confirm or exclude a deletion of 15q26 are indicated, since the diagnosis of this deletion will have major consequences for the prognosis and, therefore, can affect decision making.
Klaassens
M
M
Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands. m.klaassens@erasmusmc.nl
Galjaard
R J H
RJ
Scott
D A
DA
Brüggenwirth
H T
HT
van Opstal
D
D
Fox
M V
MV
Higgins
R R
RR
Cohen-Overbeek
T E
TE
Schoonderwaldt
E M
EM
Lee
B
B
Tibboel
D
D
de Klein
A
A
D002871:Chromosome Banding; D002872:Chromosome Deletion; D002884:Chromosomes, Human, Pair 15; D017809:Fatal Outcome; D005260:Female; D006548:Hernia, Diaphragmatic / Q000000981:diagnostic imaging* / Q000235:genetics / Q000628:therapy; D065630:Hernias, Diaphragmatic, Congenital; D006801:Humans; D007621:Karyotyping; D016216:Ultrasonography, Prenatal