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

