Results 91 to 100 of about 10,637 (245)

Prenatal diagnosis and perinatal outcomes of fetuses with congenital duodenal obstruction: A nine‐year retrospective study from China

Acta Obstetricia et Gynecologica Scandinavica, EarlyView.
A retrospective study of 98 fetuses with congenital duodenal obstruction (CDO) revealed an overall genetic abnormality rate of 20.4%, with trisomy 21 being the predominant chromosomal anomaly. Comprehensive prenatal diagnostic testing is recommended for fetuses with suspected congenital duodenal obstruction, as the genetic findings exert substantial ...
Jianqin Lu, Fang Fu, Fei Guo, Hang Zhou, Ruibin Huang, Huanyi Chen, Chunling Ma, Liyuan Liu, Xiangyi Jing, Simin Yuan, Xiang Zhou, Qiuxia Yu, Manqiu Yang, Jin Han, Dongzhi Li, Ru Li, Can Liao   +16 more
wiley   +1 more source

Optimal villi density for maximal oxygen uptake in the human placenta

, 2015
We present a stream-tube model of oxygen exchange inside a human placenta functional unit (a placentone). The effect of villi density on oxygen transfer efficiency is assessed by numerically solving the diffusion-convection equation in a 2D+1D geometry ...
Brownbill, P., Filoche, M., Grebenkov, D. S., Salafia, C., Serov, A. S.   +4 more
core   +1 more source

Pregnancy Outcome of Chorionic Villus Sampling on 260 Couples with Beta- Thalassemia Trait in North of Iran [PDF]

Acta Medica Iranica, 2010
"nChorionic villus sampling (CVS) is a new method and its true risk of fetal loss and complications is not still clearly determined. The objective of this study was to review the clinical pregnancy outcome of transabdominal CVS (TA-CVS) performed on
Nesa Asnafi, Haleh Akhavan Niaki
doaj   +2 more sources

Early versus late termination for fetal anomalies: Women's perspectives and psychological impact in a mixed methods study

Acta Obstetricia et Gynecologica Scandinavica, EarlyView.
This mixed method study evaluated the psychological impact and perspectives associated with early and late termination of pregnancy (TOP). Early TOP due to fetal anomalies is associated with a lower psychological impact compared to late TOP. Pregnancy termination has a substantial emotional impact regardless of gestational age.
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

Pallister–Killian syndrome: Cytogenetics and molecular investigations of mosaic tetrasomy 12p in prenatal chorionic villus and in amniocytes. Strategy of prenatal diagnosis

Taiwanese Journal of Obstetrics & Gynecology, 2016
Objective: Pallister–Killian syndrome (PKS) is a rare, sporadic genetic disorder caused by mosaic tetrasomy of the short arm of chromosome 12 (12p).
Francesco Libotte, Domenico Bizzoco, Ivan Gabrielli, Alvaro Mesoraca, Pietro Cignini, Salvatore Giovanni Vitale, Ilaria Marilli, Ferdinando Antonio Gulino, Agnese Maria Chiara Rapisarda, Claudio Giorlandino   +9 more
doaj   +1 more source

High Concordance of Copy Number Variants Detected by Chromosomal Microarray and Exome Sequencing in Clinical Diagnostics

Clinical Genetics, EarlyView.
To assess the relevance of exome sequencing as a first‐tier diagnostic tool, three aspects were investigated: detection of copy number variants (CNVs) from exomes as compared to chromosomal microarray, clinically‐relevant CNVs across all sizes, and additional diagnostic utilities (uniparental disomy and triploidy).
Rivka Birnbaum, Maya Slovik, Shamir Zenvirt, Ilana Livyatan, Israel Altman, Shiri Gershon, Jonathan Rips, Hagit Daum, Chaggai Rosenbluh, Orly Elpeleg, Vardiella Meiner, Ayala Frumkin, Hagar Mor‐Shaked, Tamar Harel   +13 more
wiley   +1 more source

False negative NIPT results: Risk figures for chromosomes 13,18 and 21 based on chorionic villi results in 5967 cases and literature review [PDF]

, 2016
Non-invasive prenatal testing (NIPT) demonstrated a small chance for a false negative result. Since the "fetal" DNA in maternal blood originates from the cytotrophoblast of chorionic villi (CV), some false negative results will have a biological origin ...
Berg, C.D.F. (Cardi) van den, Diderich, K.E.M. (Karin), Galjaard, R-J.H. (Robert-Jan), Go, A.T.J.I. (Attie), Govaerts, L.C. (Lutgarde), Joosten, A-M.S (Marieke), Knapen, M.F.C.M. (Maarten), Polak, J. (Joke), Srebniak, M.I. (Malgorzata), Van Opstal, A.R.M. (Diane), Vries, F.A.T. (Femke) de   +10 more
core   +1 more source

Fetal karyotyping in adolescent pregnancies: a population-based cohort study on outcomes of invasive prenatal testing

Frontiers in Genetics
BackgroundAdolescent pregnancies present unique challenges in prenatal diagnostics, yet data on the prevalence and types of chromosomal abnormalities in this population remain limited.ObjectiveThis study aimed to assess the prevalence and spectrum of ...
Jakub Staniczek, Jakub Staniczek, Jakub Staniczek, Maisa Manasar-Dyrbuś, Maisa Manasar-Dyrbuś, Maisa Manasar-Dyrbuś, Patrycja Sodowska, Krzysztof Sodowski, Krzysztof Sodowski, Agata Włoch, Agata Włoch, Agata Włoch, Bartosz Czuba, Wojciech Cnota, Monika Paul-Samojedny, Monika Paul-Samojedny, Agnieszka Kania, Henryka Sodowska, Henryka Sodowska, Magda Rybak-Krzyszkowska, Adrianna Kondracka, Rafał Stojko, Rafał Stojko, Agnieszka Drosdzol-Cop, Agnieszka Drosdzol-Cop   +24 more
doaj   +1 more source

878 Can maternal-fetal medicine fellows safely perform chorionic villus sampling procedures in ongoing pregnancies? [PDF]

, 2021
Christiana Bitas, Julie M. Stone, Mohak Mhatre, Alexandra Spadola, George Graham, Steven J. Ralston, Sabrina Craigo   +6 more
openalex   +1 more source

Molecular Testing in Sickle Cell Disease: From Newborn Screening to Transfusion Care

International Journal of Laboratory Hematology, EarlyView.
ABSTRACT Sickle cell disease (SCD) is one of the most frequent monogenic diseases worldwide and a highly heterogeneous and complex disease. SCD care carries several challenges. This includes early and accurate diagnosis as well as optimal red blood cell transfusion matching in this population carrying a high risk of alloimmunization.
Thomas Pincez, Yves D. Pastore
wiley   +1 more source