Results 71 to 80 of about 10,428 (253)

Maternal age and the risk of fetal aneuploidy: A nationwide cohort study of more than 500 000 singleton pregnancies in Denmark from 2008 to 2017

Acta Obstetricia et Gynecologica Scandinavica
Introduction In this register‐based study of pregnancies in Denmark, we assessed the associations between maternal age and the risk of fetal aneuploidies (trisomy 21, trisomy 18, trisomy 13, triploidy, monosomy X and other sex chromosome aberrations ...
Line Elmerdahl Frederiksen, Sofie Møller Ølgaard, Laura Roos, Olav Bjørn Petersen, Line Rode, Tanja Hartwig, Charlotte Kvist Ekelund, the Danish Central Cytogenetics Registry Study Group, Ida Vogel   +8 more
doaj   +1 more source

In Silico Fragment Size Selection for Enhanced Fetal Fraction and Abnormality Origin Discernment Using Pair‐End Sequencing of Maternal Plasma DNA

Journal of Clinical Laboratory Analysis, EarlyView.
This study presents a new bioinformatics pipeline for noninvasive prenatal testing (NIPT) that filters DNA fragments to significantly improve the fetal DNA fraction. This enhanced method successfully analyzed samples previously rejected for low fetal fraction and could distinguish between fetal and maternal chromosomal abnormalities.
Lihui Yang, Jiutong Zhang, Ji Zhang, Qiujie Jin, Yating Wang, Qiuhua Wu, Fengrui Shi, Rui Wang, Yunping Liu, Na Cai, Xiaobin Wang, Rong Qiang   +11 more
wiley   +1 more source

Implementation and Performance of First‐Trimester Referral Ultrasound Scan Following the Introduction of National Guidelines

Journal of Clinical Ultrasound, EarlyView.
The expert assessment of fetal anatomy before 14 weeks is feasible when adopting a standardized protocol and allows an early diagnosis in most cases at risk for fetal anomaly following first trimester screening ultrasound. ABSTRACT Background To report the implementation across Fetal Medicine units and the agreement between first and second trimester ...
Grazia Volpe, Laura Sarno, Elena Mantovani, Daniele Di Mascio, Valentina D'Ambrosio, Tiziana Fanelli, Ilaria Fantasia, Gian Piero Minnella, Paola Quaresima, Enrico Corno, Andrea Dall'Asta, on behalf of the SIEOGiovani Committee of the Italian Society of Ultrasound in Obstetrics and Gynecology (SIEOG)   +11 more
wiley   +1 more source

Visualization-based discovery and analysis of genomic aberrations in microarray data

BMC Bioinformatics, 2005
Background Chromosomal copy number changes (aneuploidies) play a key role in cancer progression and molecular evolution. These copy number changes can be studied using microarray-based comparative genomic hybridization (array CGH) or gene expression ...
Chen Xing, Myers Chad L, Troyanskaya Olga G   +2 more
doaj   +1 more source

Fetal Heart Rate at 12 Weeks' Gestation and the Risk of Preterm Birth

Journal of Ultrasound in Medicine, EarlyView.
Objectives To prospectively validate the association between fetal heart rate (FHR) at the 12‐week scan and the risk of preterm birth (PTB), including spontaneous preterm birth (sPTB). Methods This prospective cohort study included 1276 singleton pregnancies undergoing routine first‐trimester screening at 11–13 + 6 weeks' gestation and followed until ...
José Morales‐Roselló, Alicia Soriano‐Payá, Blanca Novillo‐Del Álamo, Alicia Martínez‐Varea   +3 more
wiley   +1 more source

Feasibility and Reproducibility of a Structure‐Guided Deep Learning Model for Automatic Detection of the Standard Sagittal Plane in First‐Trimester Nuchal Translucency Assessment Using 3D Ultrasound

Journal of Ultrasound in Medicine, EarlyView.
Objectives Accurate nuchal translucency (NT) measurement for assessing the risk of fetal genetic abnormalities requires precise acquisition of the mid‐sagittal plane (MSP). However, achieving an appropriate MSP is technically challenging due to anatomical variability and operator dependence inherent in conventional 2‐dimensional (2D) ultrasound.
Hayan Kwon, Hyewon Hur, Hyun Cheol Cho, Yun ji Jung, Suhra Kim, Ja‐Young Kwon   +5 more
wiley   +1 more source

Reprogenetics: preimplantational genetics diagnosis

Genetics and Molecular Biology, 2014
Preimplantational Genetics Diagnosis (PGD) is requested by geneticists and reproductive specialists. Usually geneticists ask for PGD because one or both members of the couple have an increased genetic risk for having an affected offspring.
Roberto Coco
doaj   +1 more source

Optical mapping reveals a higher level of large‐scale structural variants in a family with paternally transmitted myotonic dystrophy and independent Parkinson's disease

The Journal of Pathology, EarlyView.
Abstract Myotonic dystrophy type 1 (DM1) is a clinically challenging multisystem neuromuscular hereditary disorder, with generational increase in severity and earlier age at onset. It is caused by an unstable cytosine‐thymine‐guanine repeat expansion at the DMPK locus, accompanied by associated genetic and epigenetic modifications.
Md Mehedi Hasan, Jenna Craddock, Tingting Gong, Ruth J Lyons, Igor Stevanovski, Sanjog R Chintalaphani, Ira W Deveson, Weerachai Jaratlerdsiri, Kishore R Kumar, Vanessa M Hayes   +9 more
wiley   +1 more source

Clinical Utility of Nuchal Translucency Measurement in First‐Trimester Ultrasound Screening in a Setting With First‐Tier NIPT for Aneuploidy Screening

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To investigate the additional clinical value of nuchal translucency (NT) measurement at the first‐trimester anomaly scan (FTAS) in a setting with first‐tier non‐invasive prenatal testing (NIPT). Method This nationwide prospective cohort study, part of the IMITAS study on FTAS implementation, included all pregnancies with increased NT
Eline E. R. Lust, Kim Bronsgeest, Lidewij Henneman, Neeltje M. T. H. Crombag, Caterina M. Bilardo, Robert‐Jan H. Galjaard, Esther Sikkel, Audrey B. C. Coumans, Ayten Elvan‐Taşpınar, Sander Galjaard, Attie T. J. I. Go, Gwendolyn T. R. Manten, Eva Pajkrt, Elisabeth van Leeuwen, Monique C. Haak, Mireille N. Bekker   +15 more
wiley   +1 more source

Expanded non-invasive prenatal testing offers better detection of fetal copy number variations but not chromosomal aneuploidies.

PLoS ONE
PurposeTo evaluate the clinical performance of expanded non-invasive prenatal testing (NIPT-plus) and compare its effectiveness in screening for chromosomal aneuploidies with that of NIPT.MethodsScreening results, confirmatory invasive testing results ...
Shaozhe Yang, Yuan Zhuang, Junfeng Li, Xiuhong Fu   +3 more
doaj   +1 more source