Results 51 to 60 of about 2,265,315 (182)
, 2023 Objective: We described a unique case of near-negative chromosome mosaicism in chorionic villi but complete monosomy X in amniotic fluid.Methods: Chorionic villus sampling and amniocentesis were performed separately in the first and second trimesters ...
He Wang (250350) +8 more
core +1 more source
International Journal of Gynecology &Obstetrics, EarlyView.Abstract This study compares recommendations from international clinical guidelines regarding prenatal screening and diagnostic testing for fetal genetic abnormalities, including the role of non‐invasive prenatal testing (NIPT), invasive diagnostic procedures, and advanced genomic technologies.
Geovanna Saboia Veras +1 more
wiley +1 more source
Simplified Anisotropic IVIM Using Spherical Means and an Application in the Placenta
Magnetic Resonance in Medicine, EarlyView.ABSTRACT Purpose To reduce the complexity associated with anisotropic IVIM modeling, we derived two simplified diffusion MRI models that map the apparent diffusivity, relative proportions, and anisotropy of perfusion‐ and diffusion‐related signal components and demonstrated them in placenta scans.
Paddy J. Slator +8 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 +2 more
wiley +1 more source
First-trimester diagnosis on chorionic villi obtained by direct vision technique
, 1984 An improved technique for direct vision chorionic biopsy that gives a clear view of the amniotic sac was developed. With this technique, used in 48 women prior to vacuum aspiration and in six cases for diagnosis (karyotyping or enzyme analysis), it was ...
Mineur, Anita +7 more
core +2 more sources
Attitudes Toward Prenatal Interventions in the Fanconi Anemia Community
Prenatal Diagnosis, EarlyView.ABSTRACT Objective In‐utero cell and gene therapies may offer prenatal treatment options for inherited diseases. Preclinical data suggests in‐utero (IU) hematopoietic stem cell transplantation (HSCT) could prevent Fanconi anemia (FA) related bone marrow failure without genotoxic conditioning or immune suppression.
Tony Lum +4 more
wiley +1 more source
, 2021 Indoleamine 2,3-dioxygenase1(IDO1) is one of the most important proteins in protect the embryos from the mother's immune system during pregnancy. However, the regulation of the protein expression at the maternal–foetal interface is not fully known.
Minyan Yang +6 more
core +1 more source
Prenatal Diagnosis, EarlyView.ABSTRACT Sickle cell disease (SCD) affects millions worldwide but has limited treatment options, most of which carry significant side effects. At present, the only curative treatment for SCD is allogeneic or gene‐modified autologous hematopoietic stem cell (HSC) transplantation (Tx).
Oluwaseun O. Babatunde +4 more
wiley +1 more source
Cytogenetic and Molecular Findings in Hydrops‐Related Mirror Syndrome
Prenatal Diagnosis, EarlyView.ABSTRACT Objective Mirror syndrome is a rare, life‐threatening condition in which maternal fluid overload mirrors fetal hydrops. Data on genetic findings in affected pregnancies are limited. We compared genetic diagnoses in hydrops cases with and without mirror syndrome.
Brian A. Burnett +11 more
wiley +1 more source
Taiwanese Journal of Obstetrics & GynecologyObjective: 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 +12 more
doaj +1 more source