Results 91 to 100 of about 97,595 (299)

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

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  

Large-scale Oscillation of Structure-Related DNA Sequence Features in Human Chromosome 21

, 2006
Human chromosome 21 is the only chromosome in human genome that exhibits oscillation of (G+C)-content of cycle length of hundreds kilobases (500 kb near the right telomere). We aim at establishing the existence of similar periodicity in structure-related
A. Panjkovich, C. R. Calladine, G. Bernardi, H. C. M. Nelson, H. DeVoe, I. Liebich, J. Filipski, J. Widom, K. Matsuo, Pedro Miramontes, S. Tiwari, T. Cremer, V. R. Chechetkin, V. R. Chechetkin, Wentian Li   +14 more
core   +1 more source

CUL3‐Related Neurodevelopmental Disorder: Expanding the Prenatal Phenotype

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Pathogenic variants of the CUL3 gene are known to cause a neurodevelopmental disorder with a partially described prenatal phenotype. This study further characterizes and expands the spectrum of prenatal sonographic findings associated with the disorder to improve prenatal diagnosis and counseling.
Yoel Gofin, Tania Dery, Tamar Tenne, Racheli Goldfarb Yaacobi, Emilie Block, Marina Lifshitc Kalis, Hagar Mor‐Shaked, Liza Douiev‐Charpak, Rivka Birnbaum, Mordechai Shohat, Ofer Markovich, Debora Kidron, Rivka Sukenik‐Halevy   +12 more
wiley   +1 more source

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

Ofatumumab and high-dose methylprednisolone for the treatment of patients with relapsed or refractory chronic lymphocytic leukemia. [PDF]

, 2014
Ofatumumab is a humanized anti-CD20 monoclonal antibody that has been approved by the FDA for the treatment of patients with chronic lymphocytic leukemia. We conducted a phase II single-arm study at a single center.
Almahasnah, E, Carvajal, T, Castro, JE, Chang, J, Choi, MY, James, DF, Kipps, TJ   +6 more
core   +3 more sources

Evaluating the Utility of RNAseq in Prenatal Diagnostics: Expression Profiles of Cultured Chorionic Villus and Amniotic Fluid Samples

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective While RNAseq has enhanced variant interpretation in postnatal cases, its potential in the prenatal setting remains underexplored. This study investigates the utility of RNAseq in prenatal diagnostics by analyzing the expression profiles of cultured chorionic villus samples (cCVS) and amniotic fluid (cAF) samples. Methods We performed
Maria C. Vladoiu, Sen Zhao, Roni Zemet, Christian M. Parobek, Jefferson Cruz Sinson, Stacy Tankersley, Ignatia B. Van den Veyver, Pengfei Liu   +7 more
wiley   +1 more source

First‐Trimester Down Syndrome Screening in Renal‐Transplanted Pregnant Women: Blood Creatinine Levels Impact False‐Positive Rate

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Over the past few decades, several thousand pregnancies following kidney transplantation have been monitored but few studies have reported on first‐trimester Down syndrome screening. This study aimed to assess the performance of such screening and its relationship with renal function.
Clément Burgy, Lisa Chanourdie, Béatrice Guyard‐Boileau, Anne‐Laure Hebral, Annelise Genoux, Marie‐Sophie Combis, Paul Guerby, Christophe Vayssiere, Safouane M. Hamdi   +8 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

FLT3 Length Mutations as Marker for Follow-Up Studies in Acute Myeloid Leukaemia [PDF]

, 2004
Length mutations within the FLT3 gene (FLT3-LM) can be found in 23% of acute myeloid leukaemia (AML) and thus are the most frequent mutations in AML. FLT3-LM are highly correlated with AML with normal karyotype and other cytogenetic aberrations of the ...
Haferlach, Torsten, Hiddemann, Wolfgang, Kern, Wolfgang, Schnittger, Susanne, Schoch, Claudia   +4 more
core   +1 more source