Results 71 to 80 of about 10,637 (245)

Prenatal diagnosis of isovaleric acidaemia by enzyme and metabolite assay in the first and second trimesters [PDF]

, 1995
Isovaleric acidaemia (IVA) is caused by a deficiency of isovaleryl CoA dehydrogenase. The diagnosis can be established biochemically by the demonstration of increased levels of isovalerylglycine (IVG) and 3-hydroxyisovaleric acid in urine and by the ...
Heuvel, C.M.M. (C. M M) van den, Huijmans, J.G.M. (Jan), Jakobs, C. (Cornelis), Kleijer, W.J. (Wim), Kraan, M. (M.) van der   +4 more
core   +1 more source

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

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

The Effect of Prenatal Invasive Tests on Neonatal Birthweight

Gynecology Obstetrics & Reproductive Medicine, 2015
OBJECTIVE: The aim of this study is to investigate the effect of prenatal invasive procedures on neonatal birth weight. STUDY DESIGN: The present study consists of three group of pregnancies; 1) Amniocentesis group (n=97), 2) Chorionic Villus Sampling ...
Atakan Tanacan, Emine Aydın, Ayşe Nur Çakar, Murat Çağan, Dinçer Göksuluk, Mehmet Sinan Beksaç   +5 more
doaj  

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

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

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

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

Genetic testing in Marfan syndrome [PDF]

, 2016
Genetic testing is aiding rapid diagnosis of Marfan syndrome as a basis for management of eye, heart and skeletal disease. The affected patient's mutation can be used as a basis for prenatal or postnatal diagnosis of offspring.
Aragon-Martin, JA, Child, AH, Sage, K
core   +1 more source

Prenatal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency through molecular genetic analysis of the CYP21A2 gene [PDF]

Annals of Pediatric Endocrinology & Metabolism
Purpose Deficiency of 21-hydroxylase (21-OHD) is an autosomal recessively inherited disorder that is characterized by adrenal insufficiency and androgen excess.
Ji-Hee Yoon, Soojin Hwang, Ja Hye Kim, Gu-Hwan Kim, Han-Wook Yoo, Jin-Ho Choi   +5 more
doaj   +1 more source