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 …

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 …

Diagnostic and prognostic role of soft ultrasound markers in prenatal detection and assessment of foetal abnormalities

B Moradi, A Bahrami, SM Vafaei, S Sharifpour… - Menopause Review …, 2024 - termedia.pl
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 …

Association between ultrasonography foetal anomalies and autism spectrum disorder

O Regev, A Hadar, G Meiri, H Flusser, A Michaelovski… - Brain, 2022 - academic.oup.com
Multiple pieces of evidence support the prenatal predisposition of autism spectrum disorder
(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 …

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 …

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 …

[HTML][HTML] Outcome of fetuses with soft markers: results of 3016 cases in Ahvaz city

S Masihi, M Barati, EK Moghaddam… - Medical Journal of the …, 2021 - ncbi.nlm.nih.gov
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 …

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 …

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 …