Results 151 to 160 of about 125,929 (352)
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 +2 more
wiley +1 more source
The Fluorimetric Determination of the Lecithin/Sphingomyelin Ratio of Amniotic Fluid after HPLC [PDF]
, 1985 D. O. E. Gebhardt +2 more
openalex +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
Prenatal Diagnosis, EarlyView.ABSTRACT In utero interventions are transformative in addressing genetic and anatomic conditions during fetal development. Next generation sequencing enables early genetic testing, playing a pivotal role in prenatal decision‐making by supporting risk stratification, precise and timely diagnosis, which directly informs eligibility for fetal surgical and
Matthew A. Shear +7 more
wiley +1 more source
Diagnostic Value of Exome Sequencing in Isolated Polyhydramnios
Prenatal Diagnosis, EarlyView.ABSTRACT Objective To evaluate the diagnostic yield of exome sequencing (ES) in isolated polyhydramnios. Methods This retrospective study included 40 cases of isolated polyhydramnios. All patients underwent screening for gestational diabetes mellitus (GDM) and chromosomal microarray analysis (CMA).
Vered Offen Glassner +11 more
wiley +1 more source
South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde, 1998 No Abstract.
openaire +2 more sources