Results 61 to 70 of about 5,473 (268)

Construction and Evaluation of a Ballistic Gelatin‐Based Simulator for Transcervical Chorionic Villus Sampling

Journal of Ultrasound in Medicine, EarlyView.
Chorionic villus sampling (CVS) is a crucial prenatal diagnostic tool, but a declining number of procedures makes training a challenge. Here we describe a transcervical CVS simulator made from ballistic gelatin. Ninety‐three Maternal‐Fetal Medicine providers used the simulators during hands‐on workshops and completed surveys regarding their fidelity ...
Joshua F Nitsche, S Delaney, Peter Napolitano, Brian C Brost   +3 more
wiley   +1 more source

Clinical, biochemical and molecular characterization of Korean patients with mucolipidosis II/III and successful prenatal diagnosis [PDF]

, 2017
Background: Mucolipidosis types II and III (ML II/III) are autosomal recessive disorders caused by a deficiency in the lysosomal enzyme N-acetylglucosamine-1-phosphotransferase.
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core   +1 more source

Hemophilia A: An Ideal Disease for Prenatal Therapy

Prenatal Diagnosis, EarlyView.
ABSTRACT Hemophilia A (HA) is the most common inherited coagulation defect. Current state‐of‐the‐art treatment consists of frequent administration of prophylactic infusions of coagulation factor VIII (FVIII) protein or bispecific antibodies that replace the cofactor function of FVIIIa to maintain hemostasis. However, these treatments are far from ideal,
Christopher D. Porada, Anthony Atala, Graça Almeida‐Porada   +2 more
wiley   +1 more source

Glycogenosis type II (acid maltase deficiency) [PDF]

, 1995
Glycogen storage disease type II (GSD II/glycogenosis type II/Pompe's disease/acid maltase deficiency) is caused by the deficiency of lysosomal α-glucosidase resulting in lysosomal accumulation of glycogen.
Bijvoet, A.G.A. (Agnes), Diggelen, O.P. (Otto) van, Hermans, M.M.P. (Monique), Kleijer, W.J. (Wim), Kroos, M.A. (Marian), Ploeg, A.T. (Ans) van der, Reuser, A.J.J. (Arnold), Verbeet, M.Ph. (Martin)   +7 more
core   +1 more source

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

Biochemical Testing Promotes Interpretation of Variants of Uncertain Significance in Prenatal Genetic Disease Testing in Four Organic Acidurias. [PDF]

Clin Genet
This review demonstrates how amniotic fluid biochemical testing provides critical phenotypic evidence (ACMG PP4) for reclassifying variants of uncertain significance (VUS) in prenatal organic acidurias. Integrating metabolite analysis with genetic testing enhances diagnostic accuracy and enables informed clinical decisions for affected families ...
Yin K, Qi Q.
europepmc   +2 more sources

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

Mosaic Trisomy 7 at Amniocentesis: Prenatal Diagnosis and Molecular Genetic Analyses

Taiwanese Journal of Obstetrics & Gynecology, 2010
Objective: To present prenatal diagnosis and molecular genetic analyses of mosaic trisomy 7. Materials, Methods and Results: A 38-year-old primigravid woman underwent amniocentesis at 19 weeks of gestation because of her advanced maternal age ...
Chih-Ping Chen, Yi-Ning Su, Schu-Rern Chern, Yuh-Ming Hwu, Shuan-Pei Lin, Chyong-Hsin Hsu, Fuu-Jen Tsai, Tao-Yeuan Wang, Pei-Chen Wu, Chen-Chi Lee, Yu-Ting Chen, Li-Feng Chen, Wayseen Wang   +12 more
doaj   +1 more source

A Framework for Prenatal Counselling Recommendations in Congenital Diaphragmatic Hernia: A RAND‐Modified Delphi Study

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To develop a consensus‐based framework to support individualized prenatal counselling for congenital diaphragmatic hernia. Method A RAND‐modified Delphi study was conducted with an expert panel of parents (n = 10) and healthcare professionals (n = 17) working in Dutch or Flemish CDH European Reference Network (ERN) centres.
Leonie Lof, Robin van der Lee, Anke Oerlemans, Anne Debeer, Jan Deprest, Francesca Russo, Philip DeKoninck, Suzan Cochius‐den Otter, Horst Daniels, Esther Sikkel, Anita Huis, Rosa Geurtzen, Neeltje Crombag   +12 more
wiley   +1 more source

A prenatally diagnosed Klinefelter syndrome case of 46,XX/47,XXY mosaicism with partial deletion of Y chromosome

Taiwanese Journal of Obstetrics & Gynecology
Objective: Herein, we report the first case of 46,XX/47,XXY mosaicism with a partially deleted Y chromosome. Case report: Chorionic villus sampling (CVS; G-banding) was performed due to increased nuchal translucency; the results showed a 46,XX karyotype.
Haruna Okubo, Yuki Ito, Tomoko Kawai, Hiromi Kamura, Michihiro Yamamura, Mikiko Kaneko, Akihiro Hasegawa, Ken Takahashi, Masahisa Kobayashi, Hiroshi Kawame, Kenichiro Hata, Osamu Samura, Aikou Okamoto   +12 more
doaj   +1 more source