Results 41 to 50 of about 15,005 (199)

Does chorionic villus sampling increase the risk of preeclampsia or gestational hypertension?

open access: yesInternational Journal of Preventive Medicine, 2019
Background: Chorionic villus sampling (CVS) and amniocentesis are two methods for prenatal diagnosis. The goal of this study was to compare amniocentesis and CVS-related complications in a large sample of Iranian women.
Mahboobeh Shirazi   +5 more
doaj   +1 more source

Recent Advances in Thalassemia Research: A Comprehensive Assessment From Diagnostic Technologies to Clinical Treatment

open access: yesJournal of Clinical Laboratory Analysis, EarlyView.
Thalassemia, a common hereditary blood disorder causing impaired globin synthesis and related complications, has seen remarkable progress in recent years due to advancements in genomics and molecular biology. Researchers have identified various gene variants related to thalassemia and improved clinical diagnostic methods, including new genetic testing ...
Chaoqiong Zhou   +7 more
wiley   +1 more source

Reference values for interleukin‐6 in the amniotic fluid of asymptomatic pregnant women

open access: yesActa Obstetricia et Gynecologica Scandinavica, 2023
Introduction Nowadays, proinflammatory factors are considered to play an important role in the pathophysiology of threatened preterm labor or chorioamnionitis.
Ester delBarco   +11 more
doaj   +1 more source

Construction and Evaluation of a Ballistic Gelatin‐Based Simulator for Transcervical Chorionic Villus Sampling

open access: yesJournal of Ultrasound in Medicine, EarlyView.
Chorionic villus sampling (CVS) is a crucial prenatal diagnostic tool, but a declining number of procedures makes training a challenge. Here we describe a transcervical CVS simulator made from ballistic gelatin. Ninety‐three Maternal‐Fetal Medicine providers used the simulators during hands‐on workshops and completed surveys regarding their fidelity ...
Joshua F Nitsche   +3 more
wiley   +1 more source

Airway Involvement in Conradi–Hünermann–Happle Syndrome: A Novel Clinical Manifestation

open access: yesThe Laryngoscope, EarlyView.
We report the first documented case of airway involvement in Conradi–Hünermann–Happle syndrome (CDPX2), an X‐linked dominant form of chondrodysplasia punctata caused by pathogenic variants in EBP. A 2‐month‐old female with genetically confirmed CDPX2 developed severe subglottic stenosis and persistent respiratory distress requiring CPAP; cross ...
Enrique G. Villarreal   +3 more
wiley   +1 more source

Mosaic trisomy 22 at amniocentesis: Prenatal diagnosis and literature review

open access: yesTaiwanese Journal of Obstetrics & Gynecology, 2019
Objective: We present prenatal diagnosis of mosaic trisomy 22 at amniocentesis in a pregnancy with facial cleft, oligohydramnios and intrauterine growth restriction (IUGR), and we review the literature.
Chih-Ping Chen   +7 more
doaj   +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

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  

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

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