Prenatal diagnosis and perinatal outcome in congenital diaphragmatic hernia. Single tertiary center report.

[congenital diaphragmatic hernia]

To evaluate the perinatal results for fetuses and neonates with left-sided congenital diaphragmatic hernia (CDH ) and the role of the prenatal diagnosis in the pregnancy outcome .We reviewed data from fetuses and neonates with left-sided CDH , managed from January 2009 and December 2013 in the University Clinic Hospital , Craiova , Romania . The following data were analyzed : the gestational age at the time of diagnosis , fetal karyotyping , presence of associated structural malformations , ultrasound (US ) data (circumference and area of right lung , lung -to -head ratio - LHR , observed ÷expected LHR , hepatic herniation ), the type of antenatal care , the pregnancy outcome , the place of birth and the conventional autopsy data , if performed . Perinatal outcomes were obtained by reviewing hospital documents .Twenty -one cases were identified . No fetal surgery was performed in our series . Mean gestational age at time of diagnosis was 29 weeks of amenorrhea (WA ) (range , 16 -37 WA ). Associated structural malformations were noticed in nine (42 .8 %) cases , in which three fetuses had a normal karyotype and two had chromosomal abnormalities , and four fetuses were not investigated . Isolated congenital diaphragmatic hernia was confirmed in 12 (57 .1 %) cases . All early second trimester diagnosed cases were terminated . The overall mortality rate was 61 .9 %. Rates of fetal deaths , early neonatal deaths , late neonatal deaths , and survival were 28 .5 %, 19 %, 14 .2 %, and 38 %, respectively . The perinatal mortality rate was 19 % in cases with isolated congenital diaphragmatic hernia .The overall and perinatal mortality rate in congenital diaphragmatic hernia was still high in our series . Early perinatal deaths are associated with early diagnosis and with the presence of other structural defects . The prevalence of chromosomal abnormalities in perinatal death could not be determined from these data . In isolated congenital diaphragmatic hernia , mortality is related to the presence of herniated liver and severe pulmonary hypoplasia , this being well correlated with antenatal ultrasound parameters used for the estimation of fetal lung volumes . The antenatal diagnosis allowed better counseling of the parents , description of associations and improving the neonatal care .

Diseases
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Diseases presenting "early diagnosis" symptom

achondroplasia

acute rheumatic fever

adrenal incidentaloma

adrenomyeloneuropathy

alexander disease

allergic bronchopulmonary aspergillosis

aromatase deficiency

carcinoma of the gallbladder

cholangiocarcinoma

classical phenylketonuria

coats disease

cohen syndrome

congenital adrenal hyperplasia

congenital diaphragmatic hernia

congenital toxoplasmosis

cowden syndrome

cushing syndrome

cutaneous mastocytosis

cystinuria

dentin dysplasia

dentinogenesis imperfecta

dracunculiasis

erdheim-chester disease

erythropoietic protoporphyria

esophageal carcinoma

esophageal squamous cell carcinoma

fabry disease

familial hypocalciuric hypercalcemia

familial mediterranean fever

gm1 gangliosidosis

hirschsprung disease

holt-oram syndrome

homocystinuria without methylmalonic aciduria

hydrocephalus with stenosis of the aqueduct of sylvius

inclusion body myositis

kabuki syndrome

kallmann syndrome

kindler syndrome

krabbe disease

locked-in syndrome

monosomy 21

neuralgic amyotrophy

oculocutaneous albinism

oligodontia

omenn syndrome

oral submucous fibrosis

papillon-lefèvre syndrome

phenylketonuria

primary effusion lymphoma

primary hyperoxaluria type 1

proteus syndrome

pyomyositis

pyruvate dehydrogenase deficiency

scrub typhus

severe combined immunodeficiency

sneddon syndrome

systemic capillary leak syndrome

thoracic outlet syndrome

triple a syndrome

typhoid

von hippel-lindau disease

wiskott-aldrich syndrome

wolf-hirschhorn syndrome

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