Results 51 to 60 of about 7,094 (160)

Global Delivery of Foetal Sequencing: Do We Need Some Standardisation?

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective The development of sequencing technologies has resulted in rapid expansion in the testing available for foetuses with structural anomalies to diagnose monogenic disorders. To understand the variability in how foetal sequencing services are delivered, we developed a survey that focussed on the scope of testing, any parallel testing ...
Natalie J. Chandler, Zandra C. Deans
wiley   +1 more source

Prenatal treatment of mothers with fetuses at risk for congenital adrenal hyperplasia: How relevant is it to Indian context?

Indian Journal of Endocrinology and Metabolism, 2013
Management of congenital adrenal hyperplasia (CAH) from embryonic stage to adulthood is a critical challenge. We would like to comment on some of the practical difficulties in offering prenatal treatment for CAH-affected fetuses in Indian population. For
Marumudi Eunice, Ariachery C Ammini
doaj   +1 more source

Building low-cost simulators for invasive ultrasound-guided procedures using the V-model

Advances in Simulation, 2023
The use of medical simulators for training technical and diagnostic skills has rapidly increased over the past decade. Yet, most available medical simulators have not been developed based on a structured evaluation of their intended uses but rather out ...
Vilma Johnsson, Martin Grønnebæk Tolsgaard, Olav Bennike Bjørn Petersen, Morten Bo Søndergaard Svendsen   +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

Chorionic Villus Sampling: Results of 135 High Risk Cases

Gynecology Obstetrics & Reproductive Medicine, 2006
OBJECTIVE: To assess the data related to the first-trimester chorionic villus sampling performed in a single tertiary center. STUDY DESIGN: Transabdominal CVS perf ormed on 135 pregnant women, aged 18 to 38 y ears, at 11 to 14 weeks’ gestation, who ...
İskender Başer, Sadettin Güngör, Ali Ergün   +2 more
doaj  

Diagnosed After Birth—But Detectable Before? A Cohort Study of Prenatal Testing Potential

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate the yield of prenatal genetic testing in infants with a confirmed genetic diagnosis. Methods We retrospectively reviewed records of infants with a genetic diagnosis who were evaluated using a standardized genetic consult and testing approach. The predicted yield of various prenatal genetic sceening and diagnostic tools in
Allison Schartman, Olivia Woods, Leah Wetherill, Amy M. Breman, Benjamin M. Helm, Kristen Suhrie, Kristyne Stone   +6 more
wiley   +1 more source

Sex Ratios at Birth Following Non‐Invasive Prenatal Testing in Victoria, Australia

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Non‐invasive prenatal testing (NIPT) can determine fetal chromosomal sex early in pregnancy, raising the possibility of sex selection. However, current evidence regarding this practice is limited. Our objective was to assess the sex ratio at birth (SRB) among a cohort of infants born following NIPT from a single laboratory provider ...
Hilary Bowman‐Smart, Christopher Gyngell, Lisa Hui, Cara Mand, Mark D. Pertile, Julian Savulescu, Martin B. Delatycki   +6 more
wiley   +1 more source

In Utero Transplantation of Placenta-Derived Mesenchymal Stromal Cells for Potential Fetal Treatment of Hemophilia A

Cell Transplantation, 2018
Hemophilia A (HA) is an X-linked recessive disorder caused by mutations in the factor VIII ( FVIII ) gene leading to deficient blood coagulation. The current standard of care is frequent infusions of plasma-derived FVIII or recombinant B-domain-deleted ...
Priyadarsini Kumar, Kewa Gao, Chuwang Wang, Christopher Pivetti, Lee Lankford, Diana Farmer, Aijun Wang   +6 more
doaj   +1 more source

Prenatal Detection of Fetal Abdominal Cysts: Can We Reassure Future Parents?

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective This study aimed to evaluate the perinatal outcome of fetal abdominal cysts based on the timing of prenatal diagnosis and identify prenatal characteristics associated with postnatal surgical intervention. Methods Fetuses with prenatally detected isolated abdominal cysts referred between January 2007 and December 2022 were included ...
H. Heinrich, E. W. M. Grijseels, R. Bakx, R. R. Gorter, E. van den Boogaard, E. van Leeuwen, A. Elvan‐Taşpınar, I. H. Linskens, E. Pajkrt   +8 more
wiley   +1 more source

Colchicine causes prenatal cell toxicity and increases tetraploid risk

BMC Pharmacology and Toxicology, 2019
Background Colchicine is a clinical medicine used for relief from gout and familial Mediterranean fever. Because of its toxic effects, intravenous injection of colchicine has been banned, but it is still widely administered orally.
Ding Wang, Yingjun Xie, Minyi Yan, Qianying Pan, Yi Liang, Xiaofang Sun   +5 more
doaj   +1 more source