scholarly journals Assessment of the accuracy in prenatal diagnosis of congenital malformations. Analysis of 101 questionnaires filled in by parents of neonates hospitalized in the Department of Congenital Malformations Polish Mother's Memorial Research Institute

2015 ◽  
Vol 5 (4) ◽  
pp. 19-25
Author(s):  
Iwona Strzelecka ◽  
Maciej Słodki ◽  
Andrzej Zieliński ◽  
Iwona Maroszyńska ◽  
Maria Respondek-Liberska

Abstract Introduction: Prenatal diagnosis is an integral part of modern perinatal care. In the article results of questionnaires pertaining to the prenatal process of diagnosis are presented. Parents whose children were afflicted with congenital malformations of all types responded to enquiry Materials and methods: Between March 2014 and March 2015 150 of 355 infants were hospitalized in the Department of Pediatric Intensive Care and Congenital Malformations in Łódź, and 150 had congenital malformations. Results: 101 parents of 150 children (67,3%) have given the feedback. Anomalies were such as: of the digestive system (37%), CHD (25%), OUN (14 %), genito-urinary (13%), skeletal system (9%) and respiratory system (2%). In 65 children of 101 the defects were detected prenatally. The obstetric US exam was the most frequently pointed out as performed (more than 1200). The biochemical markers and genetic tests in were performed in 34 pregnancies. The high percentage of ability to detect malformation was reported in the group of fetal echo examinations. Conclusions: 1. Prenatal ultrasound exams were the least effective method of making appropriate prenatal diagnosis of congenital malformation. 2. Fetal echocardiography had a high level of sensitivity and specificity in detecting congenital malformations. 3. Prenatal cardiologists proved to be the most effective in detecting congenital malformations 89,3 % of detected abnormalities. 4. Biochemical exams had a positive result in only one case of Down Syndrome.

2002 ◽  
Vol 2 (4) ◽  
pp. 251-260
Author(s):  
J. M. Martínez ◽  
O. Gómez ◽  
M. del Río ◽  
B. Puerto ◽  
A. Borrell ◽  
...  

2021 ◽  
Vol 47 (1) ◽  
Author(s):  
Houda Ajmi ◽  
Wissem Besghaier ◽  
Wafa Kallala ◽  
Abdelhalim Trabelsi ◽  
Saoussan Abroug

Abstract Background Children affected by Coronavirus disease 2019 (COVID-19) showed various manifestations. Some of them were severe cases presenting with multi-system inflammatory syndrome (MIS-C) causing multiple organ dysfunction. Case presentation We report the case of a 12-year-old girl with recent COVID-19 infection who presented with persistent fever, abdominal pain and other symptoms that meet the definition of MIS-C. She had lymphopenia and a high level of inflammatory markers. She was admitted to pediatric intensive care unit since she rapidly developed refractory catecholamine-resistant shock with multiple organ failure. Echocardiography showed a small pericardial effusion with a normal ejection fraction (Ejection Fraction = 60%) and no valvular or coronary lesions. The child showed no signs of improvement even after receiving intravenous immunoglobulin, fresh frozen plasma, high doses of Vasopressors and corticosteroid. His outcome was fatal. Conclusion Pediatric patients affected by the new COVID-19 related syndrome may show severe life-threatening conditions similar to Kawasaki disease shock syndrome. Hypotension in these patients results from heart failure and the decreased cardiac output. We report a new severe clinical feature of SARS-CoV-2 infection in children in whom hypotension was the result of refractory vasoplegia.


2017 ◽  
Vol 5 (2) ◽  
pp. 193-196 ◽  
Author(s):  
Ramush Bejiqi ◽  
Ragip Retkoceri ◽  
Hana Bejiqi

BACKGROUND: Cardiac rhabdomyoma (CRs) are the most common primary tumour of the heart in infants and children. Usually are multiple and, basing on the location can cause a haemodynamic disturbance, dysrhythmias or heart failure during the fetal and early postnatal period. CRs have a natural history of spontaneous regression and are closely associated with tuberous sclerosis complex (TSC). It has an association with tuberous sclerosis (TS), and in those, the tumour may regress and disappear completely, or remain consistent in size. AIM: We aimed to evaluate the prenatal diagnosis, clinical presentation and outcome of CRs and their association with TSC in a single centre. The median follow-up period was three years (range: 6 months - 5 years). MATERIAL AND METHODS: We reviewed medical records of all fetuses diagnosed prenatally with cardiac rhabdomyoma covering the period January 2010 to December 2016 which had undergone detailed ultrasound evaluation at a single centre with limited technical resources. RESULTS: Twelve fetuses were included in the study; mostly had multiple tumours and a total of 53 tumours were identified in all patients - the maximum was one fetus with16 tumours. All patients were diagnosed prenatally by fetal echocardiography. In two patient's haemodynamic disturbances during the fetal period was noted and pregnancies have been terminated. After long consultation termination of pregnancy was chosen by the parents in totally 8 cases. In four continuing pregnancies during the first year of live tumours regressed. TSC was diagnosed in all patients during the follow-up. CONCLUSIONS: Cardiac rhabdomyoma are benign from the cardiovascular standpoint in most affected fetuses. An early prenatal diagnosis may help for an adequate planning of perinatal monitoring and treatment with the involvement of a multidisciplinary team. Large tumour size, the number of tumours and localisation may cause hydrops, and they are significantly associated with poor neonatal outcome.


2018 ◽  
pp. 1-15
Author(s):  
Tippi C. MacKenzie ◽  
N. Scott Adzick

1987 ◽  
Vol 7 (6) ◽  
pp. 407-411 ◽  
Author(s):  
Lawrence D. Platt ◽  
Greggory R. Devore ◽  
Janet Horenstein ◽  
Zdena Pavlova ◽  
Bruce Kovacs ◽  
...  

2008 ◽  
Vol 15 (4) ◽  
pp. 351-355 ◽  
Author(s):  
J. CHEMKE ◽  
R. NlSANl ◽  
R. KASSIF ◽  
M. LANCET ◽  
R. BEISER ◽  
...  

2016 ◽  
pp. 1-15
Author(s):  
Tippi C. MacKenzie ◽  
N. Scott Adzick

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