ABSTRACT
OBJECTIVES: The purpose of this study was to compare prenatal versus postnatal markers of congenital diaphragmatic hernia (CDH) severity at a single fetal-care center. METHODS: A retrospective study was performed of patients having a complete prenatal evaluation and surgical repair (n = 55). Observed-to-expected lung-to-head ratio (o/eLHR), observed-to-expected total lung volume (o/eTLV), liver position (LP), a predictive dependent variable from logistic regression of o/eLHR and liver position (o/eLHR + LP), and diaphragmatic defect size per the CDH Study Group A-D classification were plotted into receiver-operating characteristics (ROC) curves. Survival and need for extracorporeal membrane oxygenation (ECMO) were primary outcomes. RESULTS: Survival was 69%, and ECMO utilization was 56%. Distribution was 80% left-sided defects. In the survival ROC curve, the area under the curve (AUC) for o/eLHR was 0.73, o/eTLV 0.74, LP 0.73, o/eLHR + LP 0.78, and defect size 0.84 (p = 0.23). The ROC curve for ECMO support showed o/eLHR had an AUC of 0.82, o/eTLV 0.89, LP 0.79, o/eLHR + LP 0.87, and defect size 0.90 (p = 0.19). The AUCs were similar when only left-sided CDH was analyzed. CONCLUSIONS: These data suggest that prenatal evaluation was equivalent to the postnatal diaphragmatic defect classification for predicting survival and need for ECMO in CDH patients.
Subject(s)
Abnormalities, Multiple/diagnosis , Extracorporeal Membrane Oxygenation/statistics & numerical data , Head/diagnostic imaging , Hernias, Diaphragmatic, Congenital/diagnosis , Liver/pathology , Lung Diseases/diagnosis , Lung/abnormalities , Lung/diagnostic imaging , Abnormalities, Multiple/etiology , Abnormalities, Multiple/mortality , Abnormalities, Multiple/therapy , Female , Gestational Age , Head/pathology , Hernias, Diaphragmatic, Congenital/complications , Hernias, Diaphragmatic, Congenital/mortality , Hernias, Diaphragmatic, Congenital/therapy , Herniorrhaphy , Humans , Infant, Newborn , Logistic Models , Lung/pathology , Lung Diseases/etiology , Lung Diseases/mortality , Lung Diseases/therapy , Lung Volume Measurements , Magnetic Resonance Imaging , Male , Pregnancy , Prognosis , ROC Curve , Retrospective Studies , Severity of Illness Index , Ultrasonography, PrenatalABSTRACT
Mosaic trisomy 7 is a rare condition that can be seen in individuals with Blaschkolinear skin pigmentary variation, somatic asymmetry, and variable other clinical anomalies. In any patient presenting with Blaschkolinear skin pigmentary variation, varying degrees of asymmetrical growth disturbance, developmental delay, and a normal lymphocytic karyotype, chromosomal mosaicism may be present. To rule out tissue-specific or occult chromosomal mosaicism, it is recommended to culture and karyotype skin fibroblasts, since lymphocyte cell lines may not demonstrate the abnormal cell line. Early diagnosis is of paramount importance, since early physical, occupational, and speech/language therapy can greatly improve the developmental outcome of these patients. We report on a fourth patient with trisomy 7 mosaicism in whom early diagnosis and developmental therapy contributed to an improved developmental outcome when compared with patients in previous reports. Early intervention can greatly benefit patients with this diagnosis, especially in minimizing the aggressive behavior associated with communication difficulties. Our patient has milder manifestations than the previously reported patients with no seizure activity or asymmetry and fewer cells with trisomy 7.
