Results 51 to 60 of about 5,355 (231)

Adiponectin promotes syncytialisation of BeWo cell line and primary trophoblast cells [PDF]

open access: yes, 2010
Background In human pregnancy, a correct placentation depends on trophoblast proliferation, differentiation, migration and invasion. These processes are highly regulated by placental hormones, growth factors and cytokines.
Delphine Benaitreau   +5 more
core   +2 more sources

Metabolomic Investigation of β-Thalassemia in Chorionic Villi Samples [PDF]

open access: yesJournal of Clinical Medicine, 2019
Background: Beta-thalassemias are blood disorders characterized by poorly understood clinical phenotypes ranging from asymptomatic to severe anemia. Metabolic composition of the human placenta could be affected by the presence of pathological states such as β-thalassemia. The aim of our study was to describe metabolic changes in chorionic villi samples
Giovanni Monni   +7 more
openaire   +2 more sources

Hemophilia A: An Ideal Disease for Prenatal Therapy

open access: yesPrenatal 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   +2 more
wiley   +1 more source

Role of Prenatal Diagnosis in Thalassaemia Prevention

open access: yesJournal of Rawalpindi Medical College, 2017
To determine the role of chorionic villi examination in the prenatal diagnosis of ß- thalassaemia Methods: In this descriptive study couples requesting prenatal diagnosis (PND) for ß- thalassaemia were registered for chorionic villous sampling after 10 ...
Nadeem Ikram
doaj  

Biopsia do cório fetal em cães [PDF]

open access: yes, 2009
With the great development of the gestational studies in all of the species, we noticed the necessity of adaptations of these techniques for prenatal diagnosis in dogs. Based on this, we studied the feasibility of chorion biopsy guided by ultrasound. Our
BRANCO, Érika   +8 more
core   +2 more sources

Chorionic Villi Sampling: A Nursing Perspective

open access: yesJournal of Obstetric, Gynecologic & Neonatal Nursing, 1988
A relatively new procedure, chorionic villi sampling is now available as an alternative method for prenatal diagnoses of genetic disorders during pregnancy. Indications, procedures, risks, advantages, and nursing implications of this procedure are defined and described.
openaire   +2 more sources

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

open access: yesPrenatal 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

open access: yesPrenatal 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   +5 more
wiley   +1 more source

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

open access: yes, 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

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

open access: yesPrenatal 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   +6 more
wiley   +1 more source

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