Results 71 to 80 of about 100,096 (312)

De Novo Complex Genomic Rearrangement Spanning 2q31.1 in a Proband With Congenital Malformations: Genotype–Phenotype Correlation and Development of a CGR Detection Pipeline

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The 2q31 region is commonly associated with pathogenic alleles of the HOXD cluster leading to various clinical phenotypes related to skeletal development. We present a proband with tetralogy of Fallot and multiple congenital anomalies. Genomic variant screening including an in‐house CGR detection pipeline pairing genome sequencing (GS ...
Katherine Helle, Jesse D. Bengtsson, Mira Gandhi, Christopher M. Grochowski, Ming Yin Lun, Neha Sudhir, Shalini N. Jhangiani, Fritz J. Sedlazeck, Seema R. Lalani, Neil A. Hanchard, Claudia M. B. Carvalho   +10 more
wiley   +1 more source

High risk-What's next?:A survey study on decisional conflict, regret, and satisfaction among high-risk pregnant women making choices about further prenatal testing for fetal aneuploidy

, 2019
OBJECTIVES: To investigate decision making among pregnant women when choosing between noninvasive prenatal testing, invasive testing, or no further testing.METHODS: Women with a high-risk result from the first trimester screening were invited to fill in ...
Miltoft, Caroline Borregaard,, Miltoft, CB, Charlotta Ingvoldstad Malmgren, Tabor, Ann,, Tabor, Ann, Caroline Borregaard Miltoft, Finn Stener Jørgensen, Hartwig, Tanja Schlaikjaer, Jörgensen, Finn Stener,, Malmgren, Charlotta Ingvoldstad, Ann Tabor, Jorgensen, FS, Ingvoldstad Malmgren, Charlotta,, Malmgren, CI, Tanja Schlaikjær Hartwig, Hartwig, TS, Borregaard Miltoft, Caroline, Jørgensen, Finn Stener, Hartwig, Tanja Schlaikjaer,, Tabor, A   +19 more
core   +1 more source

Clinically significant findings in a decade‐long retrospective study of prenatal chromosomal microarray testing

Molecular Genetics & Genomic Medicine
Background Chromosomal microarray (CMA) is commonly utilized in the obstetrics setting. CMA is recommended when one or more fetal structural abnormalities is identified.
Joie O. Olayiwola, Mohammad Marhabaie, Daniel Koboldt, Theodora Matthews, Amy Siemon, Danielle Mouhlas, Taylor Porter, George Kyle, Cortlandt Myers, Hui Mei, Ying‐Chen Claire Hou, Melanie Babcock, Jesse Hunter, Kathleen M. Schieffer, Yassmine Akkari, Shalini Reshmi, Catherine Cottrell, Mariam T. Mathew, Marco L. Leung   +18 more
doaj   +1 more source

Prenatal Sonographic Features of Rare Chromosome 13 Aberrations

The Application of Clinical Genetics, 2022
Hanna Moczulska,1 Michal Pietrusinski,1 Marcin Serafin,1 Beata Skoczylas,1 Piotr Sieroszewski,2 Maciej Borowiec1 1Department of Clinical Genetics, Medical University of Lodz, Lodz, Poland; 2Department of Fetal Medicine and Gynecology, Medical University ...
Moczulska H, Pietrusinski M, Serafin M, Skoczylas B, Sieroszewski P, Borowiec M   +5 more
doaj  

The expressivist argument for recent policy changes regarding the provision of prenatal testing in Japan

Global Bioethics
The Japanese government and medical professionals have negative attitudes toward the provision of prenatal testing and related information due to social concern regarding discrimination against persons with disabilities.
Aya Enzo
doaj   +1 more source

Prenatal diagnosis of partial monosomy 21q (21q22.1→qter) associated with intrauterine growth restriction and corpus callosum dysgenesis

Taiwanese Journal of Obstetrics & Gynecology, 2020
Objective: A prenatal diagnosis of partial monosomy 21q(21q22.1→ qter) in fetus with intrauterine growth restriction and corpus callosum dysgenesis but escaped from the detection by cell free DNA testing was reported.
Ying-Chung Chen, Wan-Ju Wu, Shun-Ping Chang, Gwo-Chin Ma, Ming Chen   +4 more
doaj   +1 more source

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy, Jesse Richards, Brooke R. Sweeney, Seema Kumar, Katie E. Queen, Joshua Zaritsky, Carl H. Cramer, Elias I. Traboulsi, Brittni A. Scruggs, Erica E. Davis, Ekaterina Keifer, Emma McGibbon, Timothy Ogden, Bendert De Graaf, Tonia Hymers, Elizabeth Forsythe, Philip Beales   +16 more
wiley   +1 more source

What are women saying about noninvasive prenatal testing? An analysis of online pregnancy discussion forums

, 2019
OBJECTIVE:The aim of this study was to explore what women are saying about noninvasive prenatal testing (NIPT) in online discussion forums. METHODS:Inductive thematic analysis of content from 13 open-access discussion forums written in English from 11 ...
Rebecca E.S. Crabbe, Peter Stone, Filoche, Sara K, Crabbe, Rebecca ES, Stone, Peter, Sara K. Filoche   +5 more
core   +1 more source

A new fetal RHD genotyping test : costs and benefits of mass testing to target antenatal anti-D prophylaxis in England and Wales [PDF]

, 2011
Background Postnatal and antenatal anti-D prophylaxis have dramatically reduced maternal sensitisations and cases of rhesus disease in babies born to women with RhD negative blood group.
Szczepura Ala, Szczepura, Ala, Freeman Karoline, Karoline Freeman, Ala Szczepura, Freeman, K., Osipenko, L., Osipenko, Leeza, Freeman, Karoline, Leeza Osipenko, Osipenko Leeza, Szczepura, Ala; id_orcid   +11 more
core   +1 more source

Obstetrician and Gynecologist Utilization of the Noninvasive Prenatal Testing Expanded Option

American Journal of Perinatology Reports, 2016
Objective Noninvasive prenatal testing (NIPT) enables the detection of common fetal aneuploidies such as trisomy 21, trisomy 18, trisomy 13, and sex chromosome abnormalities via analysis of cell-free fetal DNA circulating in maternal serum.
Sarah Mayes, Syed Hashmi, Mark A. Turrentine, Sandra Darilek, Lara A. Friel, Jennifer Czerwinski   +5 more
doaj   +1 more source