Results 141 to 150 of about 37,847 (240)

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

Whole Genome Sequencing in Prenatal Diagnostics: The Danish Approach to Guideline Formation and Implementation Within Public Healthcare

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective To describe the implementation of whole genome sequencing (WGS) in prenatal diagnostics and outline the national guideline system facilitating this. Methods Clinical guidelines for WGS in prenatal diagnostics were developed and implemented by the Danish Fetal Medicine Society.
Ida Vogel   +17 more
wiley   +1 more source

Vaginal Delivery in Cases of Prenatally Diagnosed Omphalocele: Feasibility and Outcomes

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective This study aimed to assess outcomes of fetuses with prenatally detected omphalocele and the frequency of successful vaginal delivery in pregnancies with suspected non‐lethal omphalocele and intended active neonatal management and its impact on neonatal outcome.
H. Heinrich   +5 more
wiley   +1 more source

mRNA Expression to Assess Hypoxia and Angiogenesis in Decidual Tissue of Term Fetuses With a Congenital Heart Disease

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective Delayed fetal neurodevelopment, lower birth weight, and placental abnormalities are related to congenital heart defects (CHD). We explored mRNA expression assessment of candidate genes related to fetal hypoxia and angiogenesis in decidual tissues of pregnancies with different types of fetal CHD, classified based on aortic flow and ...
Maartje C. Snoep   +7 more
wiley   +1 more source

Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta‐Analysis

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa   +7 more
wiley   +1 more source

Systematic identification of existing core outcomes related to preterm birth and the development of a core outcome set for preterm birth in Aotearoa New Zealand

open access: yesPediatric Investigation, EarlyView.
We have used a systematic approach to determine a preterm birth core outcome set, informed by people with lived experience, perinatal healthcare professionals, and researchers. This will be recommended in preterm birth research and clinical care in Aotearoa New Zealand and for consideration internationally.
Briar Hunter   +7 more
wiley   +1 more source

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