Rapid whole exome sequencing in pregnancies to identify the underlying genetic cause in fetuses with congenital anomalies detected by ultrasound imaging
C Deden, K Neveling, D Zafeiropopoulou… - Prenatal …, 2020 - Wiley Online Library
Objective The purpose of this study was to explore the diagnostic yield and clinical utility of
trio‐based rapid whole exome sequencing (rWES) in pregnancies of fetuses with a wide …
trio‐based rapid whole exome sequencing (rWES) in pregnancies of fetuses with a wide …
The continuing enigma of the fetal echogenic intracardiac focus in prenatal ultrasound
R Rodriguez, B Herrero, JL Bartha - Current Opinion in Obstetrics …, 2013 - journals.lww.com
The origin of ICEF remains unclear. It is considered a normal developmental variant, but
either inflammatory or hypoxic processes could be involved in its appearance. In low-risk …
either inflammatory or hypoxic processes could be involved in its appearance. In low-risk …
Diagnostic and prognostic role of soft ultrasound markers in prenatal detection and assessment of foetal abnormalities
Various soft markers can be detected in the ultrasonography of foetuses, which can be
related to chromosomal abnormalities and increases the risk of abnormalities, or they can be …
related to chromosomal abnormalities and increases the risk of abnormalities, or they can be …
Association between ultrasonography foetal anomalies and autism spectrum disorder
Multiple pieces of evidence support the prenatal predisposition of autism spectrum disorder
(ASD). Nevertheless, robust data about abnormalities in foetuses later develo** into …
(ASD). Nevertheless, robust data about abnormalities in foetuses later develo** into …
A Mini-Review on Antenatal Screening and Diagnosis
A Sridhar, U Nandini, DK Srinivasan… - Journal of …, 2025 - journals.sagepub.com
Antenatal screening for maternal and fetal health is a rapidly evolving field crucial in
obstetric care. Various diagnostic and therapeutic options have emerged to address various …
obstetric care. Various diagnostic and therapeutic options have emerged to address various …
The likelihood of detecting abnormal karyotypes in fetuses with a single major anomaly or “soft” marker on ultrasonographic scanning
B Petrovic, S Milicevic, D Sljivancanin… - Clinical …, 2024 - journals.lww.com
Objective Fetuses with abnormal karyotypes often exhibit distinctive ultrasonographic
markers, including major anomalies and “soft” markers, indicating potential chromosomal …
markers, including major anomalies and “soft” markers, indicating potential chromosomal …
Long-term outcome of fetuses with soft marker and without genetic or structural abnormality
M Tosun, E Kurtoglu Ozdes, E Malatyalioglu… - The Journal of Obstetrics …, 2019 - Springer
Purpose To determine long-term outcome of infants with isolated or multiple soft markers but
no structural or chromosomal abnormalities. Methods A retrospective study of 78 pregnant …
no structural or chromosomal abnormalities. Methods A retrospective study of 78 pregnant …
[HTML][HTML] Outcome of fetuses with soft markers: results of 3016 cases in Ahvaz city
Background: Although soft markers may be seen as normal variants, they are important due
to their association with chromosomal and congenital abnormalities. Methods: This cross …
to their association with chromosomal and congenital abnormalities. Methods: This cross …
Ultrasound markers of chromosome aberrations on routine second trimester screening
B Petrović, J Joksimović, D Šljivančanin, L Joksimović… - Genetika, 2022 - doiserbia.nb.rs
Second trimester ultrasound examination for risk assessment of chromosomal abnormalities
remains an important component of prenatal evaluation. We have conducted a retrospective …
remains an important component of prenatal evaluation. We have conducted a retrospective …
Prospektive Studie zur Detektion von Fehlbildungen im Erst-und Zweittrimester-Screening durch Experten
AS Bacovsky - 2020 - refubium.fu-berlin.de
Einleitung: Aufgrund verbesserter hochauflösender Ultraschall-Geräte können viele
Organauffälligkeiten bereits im Ersttrimester-Screening detektiert werden. Ziel dieser Studie …
Organauffälligkeiten bereits im Ersttrimester-Screening detektiert werden. Ziel dieser Studie …