Prenatal diagnosis of partial trisomy 16p and its association with congenital diaphragmatic hernia

2013 ◽  
Vol 33 (8) ◽  
pp. 797-799 ◽  
Author(s):  
Molly Strong ◽  
Matthew Garabedian ◽  
Anjana Pettigrew ◽  
Natasha Barron ◽  
Wendy Hansen
Keyword(s):  
Prenatal Diagnosis ◽  
Congenital Diaphragmatic Hernia ◽  
Diaphragmatic Hernia ◽  
Partial Trisomy

scholarly journals Ultrasound, Echocardiography, MRI, and Genetic Analysis of a Fetus with Congenital Diaphragmatic Hernia and Partial 11q Trisomy

2017 ◽  
Vol 2017 ◽  
pp. 1-4
Author(s):  
Yolanda Fernández-Perea ◽  
Lutgardo García-Díaz ◽  
Javier Sánchez ◽  
Guillermo Antiñolo ◽  
Salud Borrego
Keyword(s):  
Prenatal Diagnosis ◽  
Genetic Analysis ◽  
Congenital Diaphragmatic Hernia ◽  
Diaphragmatic Hernia ◽  
De Novo ◽  
Partial Trisomy ◽  
Congenital Defects ◽  
Developmental Defect ◽  
Chromosome 11 ◽  
Mortality And Morbidity

Congenital diaphragmatic hernia (CDH) is a serious birth defect with a significant mortality and morbidity. The current and constant progress in ultrasound techniques has led to the improvement of the prenatal diagnosis of this malformation. CDH is a developmental defect whose etiology is heterogeneous and takes place when the pleuroperitoneal folds and septum transversum fail to converge and fuse. Survival depends on the extent of pulmonary hypoplasia and the disease may be potentially worsened by the presence of added congenital defects. 40% of CDH cases are associated with at least one additional anomaly. The ultrasound diagnosis is established with essential signs: loss of uniform echogenicity of lungs and marked mediastinal shift. We report the case of a fetus with isolated CDH diagnosed at 21 weeks of gestation by ultrasound and confirmed by RMI, whose genetic analysis of amniotic fluid cells identified a de novo partial trisomy of the long arm of chromosome 11. Different genetic causes have been associated with CDH. Moreover, it is expectable that the use of new techniques for prenatal diagnosis will reveal novel CNVs associated with CDH and will help us to estimate the recurrence risk for this defect as well as for other associated anomalies.

scholarly journals Prenatal diagnosis, imaging, and prognosis in Congenital Diaphragmatic Hernia

2020 ◽  
Vol 44 (1) ◽  
pp. 51163 ◽  
Author(s):  
Anne-Gael Cordier ◽  
Francesca M. Russo ◽  
Jan Deprest ◽  
Alexandra Benachi
Keyword(s):  
Prenatal Diagnosis ◽  
Congenital Diaphragmatic Hernia ◽  
Diaphragmatic Hernia

scholarly journals CONGENITAL DIAPHRAGMATIC HERNIA - PRENATAL DIAGNOSIS AND SURVIVAL

1999 ◽  
Vol 45 (6) ◽  
pp. 919-919
Author(s):  
E Garne ◽  
P Quataert ◽  
C De Vigan ◽  
H Mendizabal ◽  
D Igoe ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Congenital Diaphragmatic Hernia ◽  
Diaphragmatic Hernia

scholarly journals PRENATAL DIAGNOSIS AND SURGICAL INNOVATIONS IN CONGENITAL DIAPHRAGMATIC HERNIA: EVALUATION OF PRE- AND POST-OPERATIVE MANAGEMENT

2014 ◽  
Vol 6 (1) ◽  
Author(s):  
R. Angotti ◽  
F. Molinaro ◽  
K. Bici ◽  
E. Cerchia ◽  
M. Sica ◽  
...  
Keyword(s):  
Intensive Care Unit ◽  
Intensive Care ◽  
Prenatal Diagnosis ◽  
Minimally Invasive ◽  
Congenital Diaphragmatic Hernia ◽  
Diaphragmatic Hernia ◽  
Young Patients ◽  
Surgical Techniques ◽  
Female Ratio ◽  
Access Surgery

Introduction. Congenital diaphragmatic hernia (CDH) is still today considered a challenge from surgeons. Considerable progress in prenatal diagnosis, intensive care unit of neonates and surgical techniques, with the possibility to perform minimally access surgery, widely increased survival rates. The aim of this study is to analyze our series about long and short-term outcomes, also considering the progress made by minimally invasive techniques. Methods. The study was performed at Pediatric Surgery of Siena. It is a retrospective study that analyzed all patients with CDH (Bochdalek) treated in the last 14 years, from 2000 to 2013. Sex, side of the defect, presence of prenatal diagnosis, age of onset and symptoms, associate malformation, herniated organs, surgical technique and site of surgery, complications, recurrences, survival and followup were analyzed. Results. We included 23 patients. Five of them, were ruled out because of affected by diaphragmatic eventration or acquired diaphragmatic hernia. Forteen patients (77%) presented left CDH and 4 patients (23%) a right one. The male female ratio were 14:4. Prenatal diagnosis was performed in 5 patients (27,5%) at a mean gestational age of 29 weeks. Forteen patients (77%) had an early onset of symptoms (first day of life). Most common symptoms were respiratory distress and cyanosis; 4 patients (23%) had a late onset of symptoms, at a mean age of 9 months, and most common symptoms were failure to thrive and vomiting. Seven patients (39%) had associated malformation: common mesenterium (5 pts-71%). The colon was the most commonly herniated organ, present in 15 patients (83%), followed by small intestine in 13 patients (72%), stomach in 11 patients (61%), spleen in 9 patients (50%) and liver in 4 patients (23%). Seventeen patients (94,5%) underwent open surgery: 10 of them (59%) underwent a subcostal laparotomy approach, 7 of them (41%) underwent a supraumbelical laparotomy approach; 1 patient (5%) underwent minimally access surgery with thoracoscopy access. We performed performed surgery in the intensive care unit in 3 patients (16,5%). Six patients (33%) developed minor postoperatory complications. No patient had recurrence. Four patients died so we report a mortality rate of 23%. A follow-up investigation, with an average duration of 87 months, it is still going on in 5 patients (27,5%). Conclusions. The our survival rate was 77% and it reflects the encouraging reported data in the recent literature. These results are due to the reliability of the new resuscitation strategies, such as high-frequency oscillatory ventilation and the use of NO, the ability to perform surgery in the neonatal intensive care unit and, especially, to successfully perform minimally invasive surgery in newborn. The improvement of the survival showed the increasing of long-term morbidity end the requirement of a multidisciplinary followup. For these reasons, a multidisciplinary pathway for the management of young patients has been created, to follow them in a standardized way as early as the prenatal diagnosis.

Advances in prenatal diagnosis of congenital diaphragmatic hernia

2014 ◽  
Vol 19 (6) ◽  
pp. 331-337 ◽  
Author(s):  
Alexandra Benachi ◽  
Anne-Gaël Cordier ◽  
Mieke Cannie ◽  
Jacques Jani
Keyword(s):  
Prenatal Diagnosis ◽  
Congenital Diaphragmatic Hernia ◽  
Diaphragmatic Hernia

Prenatal diagnosis of congenital diaphragmatic hernia: how should the babies be delivered?

2007 ◽  
Vol 42 (9) ◽  
pp. 1533-1538 ◽  
Author(s):  
Björn P. Frenckner ◽  
Pam A. Lally ◽  
Susan R. Hintz ◽  
Kevin P. Lally
Keyword(s):  
Prenatal Diagnosis ◽  
Congenital Diaphragmatic Hernia ◽  
Diaphragmatic Hernia
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