Results 71 to 80 of about 105,581 (338)

Diagnostic Value of Exome Sequencing in Isolated Polyhydramnios

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate the diagnostic yield of exome sequencing (ES) in isolated polyhydramnios. Methods This retrospective study included 40 cases of isolated polyhydramnios. All patients underwent screening for gestational diabetes mellitus (GDM) and chromosomal microarray analysis (CMA).
Vered Offen Glassner, Adi Botvinik, Adi Mory, Adi Reches, Karina Krajden Haratz, Britannia Morgan Fleming, Hagit Baris Feldman, Lena Sagi‐Dain, Mordechai Shohat, Rayna Joy Goldstein, Yuval Yaron, Michal Levy   +11 more
wiley   +1 more source

Uncovering the Genetic Landscape of Spinal Dysraphism: A Retrospective Analysis of 150 Fetal Cases

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Spinal dysraphism (SD) results from incomplete neural tube closure and encompasses a heterogeneous group of congenital anomalies with genetic and environmental etiologies. Although genetic contributions are recognized, causative variants remain insufficiently defined, and the clinical implications of extended genetic testing on ...
I. Bedei, A. Feresin, R. Zemet, D. Berner, D. Polidori, K. Fröbius, A. Skakkebæk, R. Axt‐Fliedner, M. Shoukier, C. Keil   +9 more
wiley   +1 more source

DOWN'S SYNDROME A NEW MATERNAL IRAQI RISK

The Iraqi Journal of Medical Sciences, 2016
Background: The occurrence of Down's syndrome is usually associated with advancing maternal age and increased parity. Objectives: This study explores the risk factor associated with the occurrence of Down's syndrome for different age groups.
Mohammed Sh. Tawfik
doaj   +2 more sources

Laparoscopic Hysterectomy and Bilateral Salpingectomy in a Patient with Microduplication Syndrome (20p13p12.1) and a Bicornuate Uterus: An Unreported Association

International Journal of Women's Health, 2020
Harry Pachajoa,1,2 Lina Perafan,1,3 Isabella Ramos,1,4 Álvaro J Escobar4 1Centro de Investigaciones en Anomalías Congénitas y Enfermedades Raras (CIACER), Faculty of Health Sciences, Universidad Icesi, Cali, Colombia; 2Department of ...
Pachajoa H, Perafan L, Ramos I, Escobar ÁJ   +3 more
doaj  

Monozygotic twins discordant for trisomy 21: Discussion of etiological events involved

Taiwanese Journal of Obstetrics & Gynecology, 2017
Objective: To elucidate the etiologies of discordant trisomy 21 in monozygotic twin pregnancy. Case report: A monochorionic diamniotic twin pregnancy with hydrops and cleft lip (twin 1) found in one fetus presented at gestational age of 17 weeks ...
Yao-Lung Chang, Wu-Pei Yi, An-Shine Chao, Kuan-Ju Chen, Po-Jen Cheng, Tzu-Hao Wang, Shuenn-Dyh Chang   +6 more
doaj   +1 more source

A rare case of NIPT discrepancy caused by the placental mosaicism of three different karyotypes, 47,XXX, 47,XX,+21, and 48,XXX,+21

Molecular Genetics & Genomic Medicine, 2020
Background Placental mosaicism is one of the major reasons for noninvasive prenatal testing (NIPT) discrepancy. Herein, we discovered a rare case of placenta with complex karyotypes that caused false‐positive and false‐negative results in noninvasive ...
Jin Li, Mingshui Xie, Fang Wang, Jianhong Ma, Jiafu Li, Chen Chen, Zhimin Li, Juan Wang, Yuanzhen Zhang, Yirong Li   +9 more
doaj   +1 more source

Selective analysis of cell-free DNA in maternal blood for evaluation of fetal trisomy

Prenatal Diagnosis, 2012
To develop a novel prenatal assay based on selective analysis of cell‐free DNA in maternal blood for evaluation of fetal Trisomy 21 (T21) and Trisomy 18 (T18).
A. Sparks, E. Wang, C. Struble, Wade A. Barrett, R. Stokowski, Celeste McBride, J. Zahn, Kevin Lee, Naiping Shen, J. Doshi, M. Sun, Jill Garrison, Jay Sandler, D. Hollemon, P. Pattee, A. Tomita‐Mitchell, M. Mitchell, J. Stuelpnagel, K. Song, A. Oliphant   +19 more
semanticscholar   +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

The role of ultrasound in women with a positive NIPT result for trisomy 18 and 13

Taiwanese Journal of Obstetrics & Gynecology, 2019
Objective: The aim of this study was to evaluate the usefulness of ultrasound in pregnancies with a positive non-invasive prenatal testing (NIPT) result for trisomy 18/13.
Li Zhen, Yu-Juan Li, Yan-Dong Yang, Dong-Zhi Li   +3 more
doaj   +1 more source

Moderate Diagnostic Yield of Exome Sequencing in Fetal Growth Restriction: Retrospective Insights

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To determine whether invasive genetic testing should be systematically proposed in cases of FGR. Methods Descriptive retrospective study of 159 FGR cases (defined by an estimated fetal growth < 3rd percentile, regardless of Doppler findings) managed at the Toulouse Fetal Medicine Center (TFMC) during 2022–2023.
Maud Langeois, Louise Paret, Jacqueline Aziza, Paul Guerby, Christophe Vayssière, Charlotte Dubucs   +5 more
wiley   +1 more source