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
Low-dose oral misoprostol vs. oxytocin in premature rupture of membranes at ≥ 36 weeks: a comparison of labor induction outcomes and postpartum hemorrhage risk. [PDF]
Yang Y, Yu Z, Shi H, Wang Y, Zhao Y.
europepmc +1 more source
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
Eutocic delivery vs. cesarean section: a multicenter retrospective study of factors influencing cesarean rates in Robson groups 1, 2a, 3, and 4a across birth centers. [PDF]
Musicco A +7 more
europepmc +1 more source
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
Predictive factors for vaginal delivery in pregnant women with previous cesarean section: a case-control study. [PDF]
Reis GS +4 more
europepmc +1 more source
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
Maternal outcomes among women with intellectual disabilities in comparison with the general population (IDcare). [PDF]
Axmon A +4 more
europepmc +1 more source
Insights Into Congenital Lymphatic Anomalies Underlying Fetal Effusions
ABSTRACT Objective We describe a series of pregnancies with autosomal dominant lymphedema and generalized lymphatic dysplasia in the fetus diagnosed with prenatal exome or genome sequencing. We focus on specific syndromes, fetal features, and parental symptoms to deepen our understanding of congenital lymphatic anomalies.
Sara G. Vargo +4 more
wiley +1 more source
Development and validation of a nomogram for predicting intrapartum fever in parturients with epidural analgesia. [PDF]
Niu DG +6 more
europepmc +1 more source

