Results 31 to 40 of about 15,249 (194)

Unlocking insights: Validating a comprehensive model for predicting spontaneous preterm delivery and microbial invasion in women facing preterm labor

open access: yesInternational Journal of Gynecology &Obstetrics, EarlyView.
Abstract Objective Preterm labor is a multifactorial syndrome with diverse etiologies such as infection, inflammation, uteroplacental dysfunction, stress, and immune dysregulation. Identifying women at high risk remains a challenge, and multivariate prediction models have been developed to enhance risk stratification.
Ester del Barco   +12 more
wiley   +1 more source

Application of Cell‐Free DNA Barcode‐Enabled Single‐Molecule Test for Non‐Invasive Prenatal Testing of α‐Thalassemia and β‐Thalassemia

open access: yesJournal of Clinical Laboratory Analysis, EarlyView.
We evaluated the cfBEST assay for non‐invasive prenatal testing of α‐ and β‐thalassemia in 72 families. The assay correctly identified 88 of 93 fetal alleles, achieving an overall accuracy of 94.6%, a sensitivity of 94%, and a specificity of 95.35%, with 100% concordance with postnatal follow‐up.
Qin Liu   +7 more
wiley   +1 more source

Heterozygous Beta‐Thalassaemia in Pregnancy: Two Rare Causes of Severe Fetal Anemia Requiring Intrauterine Blood Transfusions

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Aim In this article, we present two cases of severe fetal hemolytic anemia based on a beta‐thalassaemia trait inherited from a single parent. Results These cases, presented at 20 and 28 weeks' gestation, necessitated intra‐uterine blood transfusions.
Eva van der Meij   +11 more
wiley   +1 more source

Prenatal Exome Sequencing Identifies Dual Maternal‐Fetal Diagnosis of HbF Mission Bay, a Novel HBG2 Variant Associated With Methemoglobinemia, Hypoxia and Hemolytic Anemia

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Prenatal exome sequencing (ES) can establish rare genetic diagnoses in a fetus but may also lead to occult genetic diagnosis in a biological parent. We present a case of dual fetal and maternal diagnosis by prenatal ES, in a fetus with unexplained anemia and in a pregnant patient with sickle cell disease (SCD) and recurrent unexplained hypoxia.
Matthew A. Shear   +6 more
wiley   +1 more source

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

Investigating the Complications of Transplacental Needle Passage in Amniocentesis

open access: yesJournal of Mazandaran University of Medical Sciences, 2019
Background and purpose: Amniocentesis is the most commonly used method for diagnosis of aneuploid and other genetic disorders of the fetus. Cautious should be taken when entering the amniocentesis needle to avoid entering the placenta.
Fatemeh Tara   +2 more
doaj  

Clinical Utility of Nuchal Translucency Measurement in First‐Trimester Ultrasound Screening in a Setting With First‐Tier NIPT for Aneuploidy Screening

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective To investigate the additional clinical value of nuchal translucency (NT) measurement at the first‐trimester anomaly scan (FTAS) in a setting with first‐tier non‐invasive prenatal testing (NIPT). Method This nationwide prospective cohort study, part of the IMITAS study on FTAS implementation, included all pregnancies with increased NT
Eline E. R. Lust   +15 more
wiley   +1 more source

Abortion for Fetal Genetic Abnormalities: Type of Abnormality and Gestational Age at Diagnosis

open access: yesAmerican Journal of Perinatology Reports, 2020
Background Advances in genetic screening can identify patients at high risk for common genetic conditions early in pregnancy and can facilitate early diagnosis and early abortion. Less common abnormalities might only be diagnosed with invasive testing is
Tracy B. Grossman, Stephen T. Chasen
doaj   +1 more source

Attitudes Toward Prenatal Interventions in the Fanconi Anemia Community

open access: yesPrenatal 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

The effect of video-based multimedia information before amniocentesis on pain, anxiety, and pregnancy outcomes

open access: yesScientific Reports
Amniocentesis is the most commonly used invasive prenatal diagnostic test. This study aimed to investigate the effect of video-based multimedia information (MMI) on the anxiety and pain levels of patients undergoing amniocentesis.
Nihal Callioglu   +2 more
doaj   +1 more source

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