scholarly journals Prenatal Microcephaly and Hydrocephalus and Normal Heart Anatomy, Postnatal Diagnosis of Nijmegen Syndrome - Case Report

2018 ◽  
Vol 8 (1) ◽  
pp. 53-58
Author(s):  
Monika Wójtowicz-Marzec ◽  
Maria Respondek-Liberska

Abstract Nijmengen breakage syndrome is a rare autosomal condition mainly characterized by microcephaly. Patients are predisposed to malignancies due to combined immunodeficiency. The presented patient had prenatally diagnosed microcephaly with atypical ventriculomegaly of occipital horns. Fetal echocardiography showed a normal fetal heart anatomy. Diagnosis of Nijmengen syndrome was confirmed postnatally. The differential diagnosis of fetal microcephaly should take into account intrauterine infections, perinatal brain injury, congenital malformations or biological variants.

2017 ◽  
Vol 7 (1) ◽  
pp. 26-30
Author(s):  
Iwona Strzelecka ◽  
Eliza Michalska ◽  
Katarzyna Zych-Krekora ◽  
Maria Respondek-Liberska

Abstract Introduction: Echocardiography of the fetal heart is an ultrasound examination that allows the evaluation of the anatomical structure and cardiovascular system usually performed in first half of pregnancy. Material and methods: This work presents the data of 107 fetuses with normal heart anatomy (NHA) and normal heart study (NHS) and their neonatal follow-up. In this group (in an addition to routine prenatal work-up) has been performed also a echocardiography examination in the third trimester of pregnancy, after 37th week of gestation: 61% of pregnant women were referred to the prenatal cardiology center due to the presence of high-risk pregnancies and 39% were low-risk pregnancies. Results: In two cases episodes of fetal arrhythmias were present during obstetrical examinations. After birth in the study group of 107 fetuses, 72% of newborns left the hospital during the 4 days and 28% newborns stayed in the hospital for longer time. In 16 cases their stay was extended due to maternal reasons and in 14 for newborns reasons. Conclusions: 1) In the neonate group, after prenatal cardiac evaluation > the 37th week of gestation such as “ normal fetal heart anatomy & normal heart study”, all newborns in our center were born in good general condition. 2) Late prenatal echocardiography in 3rd trimester of pregnancy maybe considered as additional tool to prove fetal well being, specially in high risk pregnancies.


Author(s):  
Sushma Tumkur Venugopal ◽  
Sriraam Natarajan ◽  
Megha P. Arakeri ◽  
Suresh Seshadri

Fetal Echocardiography is used for monitoring the fetal heart and for detection of Congenital Heart Disease (CHD). It is well known that fetal cardiac four chamber view has been widely used for preliminary examination for the detection of CHD. The end diastole frame is generally used for the analysis of the fetal cardiac chambers which is manually picked by the clinician during examination/screening. This method is subjected to intra and inter observer errors and also time consuming. The proposed study aims to automate this process by determining the frame, referred to as the Master frame from the cine loop sequences that can be used for the analysis of the fetal heart chambers instead of the clinically chosen diastole frame. The proposed framework determines the correlation between the reference (first) frame with the successive frames to identify one cardiac cycle. Then the Master frame is formed by superimposing all the frames belonging to one cardiac cycle. The master frame is then compared with the clinically chosen diastole frame in terms of fidelity metrics such as Dice coefficient, Hausdorff distance, mean square error and structural similarity index. The average value of the fidelity metrics considering the dataset used for this study 0.73 for Dice, 13.94 for Hausdorff distance, 0.99 for Structural Similarity Index and 0.035 for mean square error confirms the suitability of the proposed master frame extraction thereby avoiding manual intervention by the clinician. .


2021 ◽  
Author(s):  
Shan An ◽  
Jing Lv ◽  
Haogang Zhu ◽  
Jingyi Wang ◽  
Xiaoxue Zhou ◽  
...  

2020 ◽  
Vol 69 (2) ◽  
pp. 43-50
Author(s):  
Viktoria A. Lim

Hypothesis/aims of study. Fetal heart defects are the most common malformations causing infant mortality. The task of the obstetric care service is to make a timely diagnosis, which includes high-quality ultrasound screening and, if necessary, fetal echocardiography. This study aimed to compare fetal echocardiography with postpartum echocardiography. Study design, materials and methods. 101 pregnant women with both isolated fetal heart defects and combined pathology were examined for the period 20172019. Results. The greatest number of heart defects was detected at 2331 weeks of gestation. The structure of the malformations is diverse, the most common one being a complete form of the atrioventricular canal defect. In multiple pregnancies, complex heart defects were often combined with abnormalities in other organ systems. Conclusion. It is recommended to describe the heart structure in detail from 2122 weeks of pregnancy. If cardiac pathology is detected in utero, it is mandatory to conduct an examination of other fetal organs.


2005 ◽  
Vol 26 (4) ◽  
pp. 417-417
Author(s):  
K. Wiêch ◽  
A. Hamela-Olkowska ◽  
M. Dubiel ◽  
K. Jalinik ◽  
D. Zaryjewski ◽  
...  
Keyword(s):  

1994 ◽  
Vol 171 (5) ◽  
pp. 1265-1270 ◽  
Author(s):  
Maria L. Respondek ◽  
Michael Kammermeier ◽  
Abraham Ludomirsky ◽  
Sharon R Weil ◽  
James C. Huhta

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