scholarly journals Prenatal diagnosis of LUTO: improving diagnostic accuracy

2018 ◽  
Vol 52 (6) ◽  
pp. 739-743 ◽  
Author(s):  
F. Fontanella ◽  
L. K. Duin ◽  
P. N. Adama van Scheltema ◽  
T. E. Cohen‐Overbeek ◽  
E. Pajkrt ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Diagnostic Accuracy

Prenatal Diagnosis of Conotruncal Malformations: Diagnostic Accuracy, Outcome, Chromosomal Abnormalities, and Extracardiac Anomalies

2006 ◽  
Vol 23 (4) ◽  
pp. 241-246 ◽  
Author(s):  
Shanthi Sivanandam ◽  
Julie Glickstein ◽  
Beth Printz ◽  
Lindsey Allan ◽  
Karen Altmann ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Diagnostic Accuracy ◽  
Chromosomal Abnormalities ◽  
Conotruncal Malformations

scholarly journals Diagnosing Fetal Skeletal Dysplasia Using Three-Dimensional Computed Tomography: A Study Protocol for an Interventional Study

2020 ◽  
Vol 1 (7) ◽  
pp. 292-296
Author(s):  
Miyoko Waratani ◽  
Fumitake Ito ◽  
Yukiko Tanaka ◽  
Mabuchi Aki ◽  
Taisuke Mori ◽  
...  
Keyword(s):  
Computed Tomography ◽  
Prenatal Diagnosis ◽  
Diagnostic Accuracy ◽  
Radiation Exposure ◽  
Skeletal Dysplasia ◽  
Three Dimensional ◽  
Trial Registration ◽  
Secondary Outcome ◽  
Fetal Imaging ◽  
Skeletal Dysplasias

Background: Fetal skeletal dysplasias are a group of skeletal dysplasias occurring during the fetal stage. As the use of fetal ultrasonography has become widespread, the rate of prenatal diagnosis of skeletal dysplasias has increased. However, many fetal skeletal dysplasia phenotypes have indistinct definitions, making definitive prenatal diagnosis difficult. Fetal imaging methods that are the basis of diagnosing fetal skeletal dysplasias include ultrasonography and three-dimensional computed tomography. The use of three-dimensional computed tomography requires specific imaging techniques and cannot easily be performed at all facilities. In the present study, we propose to conduct a survey for the preparation of a protocol with a low risk, and a high diagnostic accuracy. Methods: In total, 50 pregnant women who undergo three-dimensional computed tomography for the diagnosis of fetal skeletal dysplasias will be included. The primary outcome is prenatal diagnostic accuracy for fetuses with skeletal dysplasias. The secondary outcome is the safety from radiation exposure. Results and conclusion: Three-dimensional computed tomography should be considered for the prenatal diagnosis of fetal skeletal dysplasias, as it is important to judge whether the prognosis is favorable or lethal. When considering the risk of radiation exposure, high quality images that are adequate for a diagnosis have been obtained using low-dose three-dimensional computed tomography scans. This approach reduces the level of radiation to which the pregnant woman and fetus are exposed. Trial registration: University hospital Medical Information Network (UMIN) Center: Trial registration number is UMIN000034744. Data of registration is October 01, 2018. (URL: https://upload.umin.ac.jp/cgi-open-bin/ctr_e/ctr_view.cgi?recptno=R000039610).

scholarly journals Real-Life Diagnostic Accuracy of MRI in Prenatal Diagnosis

2020 ◽  
Vol 2020 ◽  
pp. 1-12
Author(s):  
Manuel Recio Rodríguez ◽  
Cristina Andreu-Vázquez ◽  
Israel J. Thuissard-Vasallo ◽  
Raquel Cano Alonso ◽  
Carmina Bermejo López ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Prenatal Diagnosis ◽  
Diagnostic Accuracy ◽  
Fetal Mri ◽  
Accurate Diagnosis ◽  
Fetal Ultrasound ◽  
Additional Information ◽  
Perinatal Management ◽  
Cns Pathology

There is some controversy about the value of fetal MRI in prenatal diagnosis, and most of the studies examine its accuracy in central nervous system (CNS) pathology. The objective of this retrospective study was to assess the diagnostic accuracy and usefulness of fetal MRI in the prenatal diagnosis of central nervous system (CNS) pathology and non-CNS pathology. Patients referred to the Radiology Department between 2007 and 2018 for a fetal MRI after detection of an anomaly in the fetal ultrasound, a high-risk pregnancy, or an inconclusive fetal ultrasound (n = 623) were included in the study. Postnatal diagnosis was used to assess the diagnostic accuracy of MRI. Fetal MRI was considered to provide additional information over fetal ultrasound when findings of the fetal MRI were not detected in the fetal ultrasound or when established a pathological condition that was not detected in the fetal ultrasound. Fetal MRI provided useful information for the perinatal management and prognosis over fetal ultrasound when findings of the fetal MRI changed the postnatal prognosis, leaded to the decision to legally terminate the pregnancy, changed prenatal or postnatal follow-up, or helped in the planning of prenatal or postnatal treatment. Fetal MRI offered an accurate diagnosis in 97% of cases (compared to 90.4% of fetal ultrasound; p < 0.001 ). Concordance between fetal ultrasound and fetal MRI was 92.1%. Fetal MRI provided additional information over fetal ultrasound in 23.1% of cases. In 11.6% of cases, the information was useful for the perinatal management and prognosis. In 45 cases (7.2%), fetal MRI was the only accurate diagnosis. In conclusion, fetal MRI has a superior diagnostic accuracy, especially in CNS pathology, and provides additional useful information in CNS, thoracic, and abdominal pathology.

P–558 SNP array versus karyotype for prenatal diagnosis in fetuses with abnormal ultrasound: a systematic review and meta-analysis

2021 ◽  
Vol 36 (Supplement_1) ◽  
Author(s):  
V Kamath ◽  
M P Chacko ◽  
M Mariano ◽  
R Kirubakaran ◽  
M S Kamath
Keyword(s):  
Systematic Review ◽  
Single Nucleotide Polymorphism ◽  
Prenatal Diagnosis ◽  
Diagnostic Accuracy ◽  
Chromosomal Abnormalities ◽  
Snp Array ◽  
Index Test ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide

Abstract Study question Does Single nucleotide polymorphism (SNP) array provide a diagnostic advantage over conventional karyotype in prenatal diagnosis for fetuses with an abnormal ultrasound? Summary answer SNP array in the prenatal setting provides an incremental diagnostic yield over karyotype and the diagnostic accuracy is comparable with combined SNP array and karyotype What is known already Single nucleotide polymorphism and comparative genomic hybridization based arrays (aCGH) are the two chromosomal microarray (CMA) platforms available. Guidelines which recommend offering CMA instead of karyotyping for prenatal diagnosis are mainly based on studies that compared aCGH with karyotype. There is a paucity of reviews that critically appraise the role of SNP array as a prenatal diagnostic tool. We decided to estimate the incremental yield of SNP array over karyotype in detecting chromosomal abnormalities, and to determine the diagnostic accuracy of SNP alone compared with SNP array and karyotype in combination for prenatal diagnosis in fetuses with an abnormal ultrasound. Study design, size, duration We conducted a systematic review of studies comparing SNP array with karyotype for prenatal diagnosis in fetuses with an abnormal ultrasound. We performed a literature search in the electronic databases of EMBASE, PubMed, CENTRAL, CDSR, SCOPUS and Web of science for relevant studies published in the English language between January1996 and May 2020. We also hand searched the referenced list of included studies and performed a google search for grey literature to identify potential studies. Participants/materials, setting, methods The study population was women undergoing prenatal diagnosis for abnormal fetal ultrasound. Studies in which SNP array and karyotyping had been used in fetuses with abnormal ultrasound and which allowed for a 2 x 2 data extraction table were included. We estimated the incremental yields for SNP array over karyotype. For determining the diagnostic accuracy, we considered SNP array alone as the index test and combined karyotype & SNP array as the reference standard. Main results and the role of chance We included six studies for quantitative analysis. After pooling results, incremental yield of SNP array over normal karyotype was 10% (95% confidence interval, CI 4 to 16%) in fetuses with abnormal ultrasound while incremental yield of karyotype over SNP array was 1% (95% CI 0 to 2%). The agreement between SNP array and karyotype was 92%. Variant of uncertain significance (VUS) rates ranged from 4–8%. For SNP array alone versus combined SNP array and conventional karyotype, pooled sensitivity and specificity was 0.96 (95% CI 0.91 to 0.99) and 1.00 (95% CI 0.99 to 1.00) respectively. The Area under curve (AUC) was 0.99 indicating the discriminating ability of the SNP array was very high to identify the fetus with chromosomal abnormalities. Limitations, reasons for caution Only studies published in English were included. There was some degree of heterogeneity in inclusion criteria for the included studies. Wider implications of the findings: The current study suggests SNP array alone can replace conventional karyotype for prenatal diagnosis in fetus with an abnormal ultrasound. Limitations to adoption of SNP testing might include the requirement of requisite expertise to interpret the results and counsel patients appropriately, especially with the propensity of SNPs to identify VUS. Trial registration number Not applicable

Diagnostic accuracy and clinical outcomes associated with prenatal diagnosis of fetal absent cavum septi pellucidi

2018 ◽  
Vol 38 (6) ◽  
pp. 395-401 ◽  
Author(s):  
Rachel A. Pilliod ◽  
David R. Pettersson ◽  
Thomas Gibson ◽  
Ladawna Gievers ◽  
Amanda Kim ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Diagnostic Accuracy ◽  
Clinical Outcomes ◽  
Cavum Septi Pellucidi

scholarly journals Truncus Arteriosus: Diagnostic Accuracy, Outcomes, and Impact of Prenatal Diagnosis

2008 ◽  
Vol 30 (3) ◽  
pp. 256-261 ◽  
Author(s):  
Tara M. Swanson ◽  
Elif Seda Selamet Tierney ◽  
Wayne Tworetzky ◽  
Frank Pigula ◽  
Doff B. McElhinney
Keyword(s):  
Prenatal Diagnosis ◽  
Diagnostic Accuracy ◽  
Truncus Arteriosus

scholarly journals Diagnostic accuracy of cystoscopy and ultrasonography in the prenatal diagnosis of abnormally invasive placenta

Medicine ◽  
2018 ◽  
Vol 97 (15) ◽  
pp. e0438 ◽  
Author(s):  
Yan Liu ◽  
Dazhi Fan ◽  
Yao Fu ◽  
Shuzhen Wu ◽  
Wen Wang ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Diagnostic Accuracy ◽  
Invasive Placenta ◽  
Abnormally Invasive Placenta

Diagnostic accuracy of ultrasound and MRI in the prenatal diagnosis of placenta accreta

2013 ◽  
Vol 92 (9) ◽  
pp. 1017-1022 ◽  
Author(s):  
Mohammad A. Maher ◽  
Ahmed Abdelaziz ◽  
Mohamed F. Bazeed
Keyword(s):  
Prenatal Diagnosis ◽  
Diagnostic Accuracy ◽  
Placenta Accreta
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