scholarly journals CHANGES IN CLINICAL AND CYTOGENETIC FINDINGS OF INVASIVE PRENATAL DIAGNOSIS FROM 1989 TO 2011 IN ISTANBUL; IMPACT OF THE BIOCHEMICAL SCREENING TESTS AND FETAL ULTRASONOGRAPHY

2020 ◽  
Vol 83 (4) ◽  
Author(s):  
Seher Başaran ◽  
Birsen Karaman ◽  
Melike Kırgız ◽  
İbrahim Halil Kalelioğlu ◽  
Recep Has ◽  
...  
2010 ◽  
Vol 6 (4) ◽  
pp. 340-345 ◽  
Author(s):  
Pierpaolo Peruzzi ◽  
Rebecca J. Corbitt ◽  
Corey Raffel

Object The use of fetal MR imaging for the in utero evaluation of pathological conditions of the CNS is widely accepted as an adjunct to fetal ultrasonography studies. Magnetic resonance imaging is thought to characterize CNS anomalies better, and to provide a more exact diagnosis and accurate prognosis. The purpose of this study was to determine the role of and indications for fetal MR imaging in evaluating fetuses with different CNS abnormalities that were seen initially on prenatal sonograms. Methods Over a 3-year period, fetuses with prior sonographic evidence of CNS abnormalities who consequently received prenatal MR imaging at Columbus Nationwide Children's Hospital within 2 weeks of the fetal ultrasonography study were included in this study. For each patient, radiological reports from both studies were reviewed, analyzed, and compared with the findings at postnatal imaging or physical examination. Results of the 2 modalities were then compared in terms of diagnostic accuracy. Results Twenty-six fetuses were included in this study on the basis of an in utero sonogram showing a CNS anomaly. Their gestational age ranged from 17 to 35 weeks, with a mean of 25 weeks at the time of fetal ultrasonography. Hydrocephalus was identified in 16 fetuses, 6 had evidence of a spinal dysraphic defect, 2 had holoprosencephaly, 1 had an encephalocele, and 1 had multiple body abnormalities requiring detailed CNS evaluation. Twenty-five of the fetuses were correctly evaluated as having abnormal CNS findings on both fetal ultrasonography and fetal MR imaging. Fetal ultrasonography provided a correct prenatal diagnosis in 20 cases, whereas fetal MR imaging was correct in 22 cases. There were 9 cumulative false-positive results for fetal ultrasonography and 7 for fetal MR imaging, whereas for false-negative results there were a total of 34 and 19, respectively. Conclusions Fetal MR imaging is more sensitive in detecting fetal CNS abnormalities, but its ability to provide a correct prenatal diagnosis is only marginally superior to fetal ultrasonography. Moreover, fetal MR imaging is not exempt from misdiagnosis, and still shows a significantly high rate of false-negative results. Particularly for spinal dysraphic defects, fetal MR imaging does not seem to add important diagnostic or prognostic details when compared with fetal ultrasonography.


2014 ◽  
Vol 44 (S1) ◽  
pp. 131-131
Author(s):  
G. Marchitelli ◽  
J. Stirnemann ◽  
V. Rousseau ◽  
M. Acanfora ◽  
L.J. Salomon ◽  
...  

2021 ◽  
Author(s):  
Jie Zhou ◽  
Xiaohui Dai ◽  
Hanmin Liu ◽  
Yiping Li ◽  
Ling Luo ◽  
...  

Abstract Purpose To explore the diagnostic value of systematic fetal ultrasonography for trisomy 18 (T18) syndrome before 16 weeks gestation. Methods A total of 12 fetuses with T18 were selected as research subjects and their nuchal translucency (NT) screening and fetal systematic ultrasonographic images acquired at 11–15 weeks were retrospectively analyzed. Results In the 12 fetuses’ NT screening, ten fetuses showed NT thickening, one showed nuchal cystic hygroma, four showed reversed a-wave ductus venosus flow, and three showed omphalocele. The most common anomalies on the systematic ultrasonography before 16 weeks gestation were cardiac defects (12/12, 100%), omphalocele (4/12, 33.3%), limb anomalies (5/12, 41.7%), and facial anomalies (3/12, 25.0%). Seven of the 12 fetuses had multiple structural malformations: three had two structural malformations (25.0%), three had three structural malformations (25.0%), and one had four structural malformations (8.3%). Conclusion Systematic fetal ultrasonography before 16 weeks gestation can detect most of the structural malformations of T18, effectively shortening the prenatal diagnosis time. It is therefore of great importance for reducing the birth rate of children with T18 and minimizing the physical and mental damage to mothers and their families.


1984 ◽  
Vol 87 (3) ◽  
pp. 628-633 ◽  
Author(s):  
Mark L. Bassett ◽  
June W. Halliday ◽  
Robyn A. Ferris ◽  
Lawrie W. Powell

Author(s):  
Rehab Elsaid Nour Eldin Youssef ◽  
Heba Taha El-Weshahi ◽  
Mona Hamdy Ashry

Background: The study was conducted to explore the Egyptian women’s attitudes toward the prenatal screening (PNS) for congenital malformations and termination of pregnancy if medically indicated and assessing their knowledge and beliefs regarding prenatal screening.Methods: A total of 351 Egyptian women in the reproductive age giving birth to at least one child completed a structured questionnaire to assess their knowledge of prenatal diagnosis and their willingness to undergo prenatal screening as well as their opinions on termination of pregnancy if medically indicated. Women's beliefs were also assessed.Results: More than half of studied women (52.71%) are lacking knowledge about the availability of the accurate tests for prenatal screening of congenital malformations. After giving information about PNS, more than three quarters (77.5%) of the studied women held positive attitudes toward the prenatal screening for congenital malformations. The other one quarter was either refusing or not sure about their opinion (4.6% and 17.9% respectively). Only 58.7% accepting termination of pregnancy if medically indicated. Positive attitude towards PNS was significantly higher among females with older age (P=0.019) as well as those of higher social class as indicated by higher level of education (p=0.026), urban residency (p=0.046) and working women (p=0.005). Perceived seriousness of congenital malformations and believing in the importance of early detection of such condition were the significant motives to undergo PNS.Conclusions: There is marked lack of knowledge about the prenatal screening tests among the studied women. After giving information about PNS, most of them shows a positive attitude towards carrying out these tests and about half of them reported their acceptance for termination of pregnancy if medically indicated based on prenatal diagnosis of sever congenital malformations. Emphasis national needs for health education programs about PNS importance and development of well-structured national program for PNS.


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