Validation of a hypomorphic variant in CDK13 as the cause of CHDFIDD with autosomal recessive inheritance through determination of an episignature.

Autosomal dominant CDK13-related disease is characterized by congenital heart defects, dysmorphic facial features, and intellectual developmental disorder (CHDFIDD). Heterozygous pathogenic variants, particularly missense variants in the kinase domain, have previously been described as disease causing. Using the determination of a methylation pattern and comparison with an established episignature, we reveal the first hypomorphic variant in the kinase domain of CDK13, leading to a never before described autosomal recessive form of CHDFIDD in a boy with characteristic features.

Generation of Bona Fide Human Induced Trophoblast Stem Cells by Direct Reprogramming of Term Umbilical Cord Cells.

Placentation disorders, including severe preeclampsia and fetal growth restriction, have their origins in early pregnancy, whereas symptoms typically present later on. To investigate the pathogenesis of these diseases, there is a need for a reliable in vitro model system of early placenta development with known pregnancy outcomes. Therefore, we optimized the generation of human induced trophoblast stem cells (iTSCs) from term umbilical cord, enabling non-invasive collection of patient-derived material immediately after birth.

Prevalence of functional defecation disorders in European children: A systematic review and meta-analysis.

Objectives: Functional defecation disorders (FDDs) are common among children worldwide. The prevalence of these disorders has not been clearly described in Europe. This study performed a systematic review and meta-analysis on the prevalence of FDD in European children and assessed geographical, age, and sex distribution and associated factors.

Repeated ionizing radiation exposure induces TRIP13 expression, conferring radioresistance in lung cancer cells.

Radiation therapy is a common treatment modality for lung cancer, and resistance to radiation can significantly affect treatment outcomes. We recently described that lung cancer cells that express more germ cell cancer genes (GC genes, genes that are usually restricted to the germ line) can repair DNA double-strand breaks more rapidly, show higher rates of proliferation and are more resistant to ionizing radiation than cells that express fewer GC genes. The gene encoding TRIP13 appeared to play a large role in this malignant phenotype.

Oral Glucose-Lowering Agents vs Insulin for Gestational Diabetes: A Randomized Clinical Trial.

Importance: Metformin and glyburide monotherapy are used as alternatives to insulin in managing gestational diabetes. Whether a sequential strategy of these oral agents results in noninferior perinatal outcomes compared with insulin alone is unknown.

Objective: To test whether a treatment strategy of oral glucose-lowering agents is noninferior to insulin for prevention of large-for-gestational-age infants.

A sterilization method for human decellularized vaginal matrices.

Vaginal reconstruction is necessary for various congenital and acquired conditions, including vaginal aplasia, trauma, tumors, and gender incongruency. Current surgical and non-surgical treatments often result in significant complications. Decellularized vaginal matrices (DVMs) from human tissue offer a promising alternative, but require effective sterilization to ensure safety and functionality.

Healthcare professionals' experiences with expanded noninvasive prenatal screening: challenges and solutions.

Genome-wide non-invasive prenatal cell-free DNA screening (NIPT) can lead to the early detection of important health-related information for the fetus and pregnant woman. However, the expanding scope of screening heightens information complexity and creates challenges for clinical interactions. This study explored Belgian healthcare professionals' experiences to identify challenges and solutions to expanded NIPT in practice.

Short-term postoperative complications in preterm neonates with surgical necrotizing enterocolitis: a multicenter retrospective cohort study.

Background: Over half of preterm neonates with necrotizing enterocolitis (NEC) require surgery, making it essential to understand short-term postoperative outcomes and complication rates. Therefore, this study aimed to provide an overview of 30-day postoperative complications for NEC. Secondary, risk factors for minor and major short-term postoperative complications were identified.

OPtimal TIming of antenatal COrticosteroid administration in pregnancies complicated by early-onset fetal growth REstriction: results of a large, multicenter cohort study (the OPTICORE study).

Background: Early-onset fetal growth restriction as consequence of placental insufficiency frequently requires iatrogenic, preterm birth. Administration of antenatal corticosteroids reduces risks of neonatal morbidity and mortality following preterm birth and is most beneficial if the neonate is delivered within two weeks following treatment. International guidelines on fetal growth restriction pregnancies do not provide directives regarding the timing of antenatal corticosteroids, resulting in practice variation.

Confronting the Taboo of Multifetal Pregnancy Reduction: A Qualitative Study of Maternal Decision-Making in Triplet Pregnancies.

Objective: To explore the personal experiences of women faced with the decision to continue a triplet pregnancy or undergo multifetal pregnancy reduction.

Methods: A qualitative study with semi-structured interviews was conducted between October 2021 and April 2023. Participants included women who continued a triplet pregnancy, and those who underwent multifetal pregnancy reduction from triplet to twins or singletons, 1-6 years post-decision.

Pessary or cerclage (PC study) to prevent recurrent preterm birth: a non-inferiority, randomised controlled trial.

Background: Previous spontaneous preterm birth (sPTB) is a strong risk indicator for recurrent preterm birth (PTB). Cervical cerclage is an accepted intervention to prevent recurrent PTB in high risk patients. Cervical pessary might be a less invasive alternative.

Effects of sildenafil treatment on placental immune cell subsets in early-onset fetal growth restriction.

Introduction: Early onset fetal growth restriction is a common pregnancy complication with significant risk of perinatal mortality and morbidity. The most common etiology is placental insufficiency, reflected by several placental lesions that appear with fetal growth restriction. Placental immune cells are involved in almost all aspects of the development of the placenta and immune cell imbalances have been related to common pregnancy complications.

Preterm birth recurrence after spontaneous preterm birth between 16-28 weeks: A national cohort study.

Objective: To assess the risk of recurrent preterm birth following spontaneous extreme preterm birth between 16 - 27 weeks.

Methods: A nationwide retrospective cohort study was conducted with data from the Perinatal Registry of the Netherlands. We included nulliparous women with a singleton pregnancy that ended in spontaneous preterm birth between 16 and 27 weeks of gestation without congenital anomalies or antenatal death between 2010-2014 and had a subsequent pregnancy in the 5 years following (2010-2019).

The development of multidisciplinary convalescence recommendations after childbirth: a modified Delphi study.

Background: Evidence suggests that postpartum recovery takes longer than 6 weeks. However, evidence-based recommendations regarding postpartum recovery are lacking. Current research mainly focuses on shortening hospital stay after childbirth, neglecting outpatient recovery.

Accelerometry for sleep assessment in children: Criterium validity of different algorithms in wrist- and ankle-worn devices.

Polysomnography, the gold-standard for measuring sleep, is costly, intrusive and usually limited to 1 night. Actigraphy offers a more affordable, less intrusive method over multiple nights. However, little research validates ActiGraph accelerometers against polysomnography, especially in children.

Phenotype-to-Genotype Description of Prenatal Suspected and Postnatal Discovered Upper Limb Anomalies: A Retrospective Cohort Study.

Objective: To evaluate phenotype and genotype characteristics of fetuses and children with upper limb anomalies.

Method: Retrospective cohort study of a prenatal and postnatal cohort with upper limb anomalies from January 2007 to December 2021 in a Fetal Medicine Unit. Prenatally on ultrasound suspected upper limb anomalies, such as transverse and longitudinal reduction defects, polydactyly, and syndactyly, and postnatally identified children referred to the Congenital Hand Team were evaluated separately.

A decade of public engagement regarding human germline gene editing: a systematic scoping review.

Following the discovery of the CRISPR-Cas technology in 2012, there has been a growing global call for public engagement regarding the potential use of human germline gene editing (HGGE). In this systematic scoping review, we aim to evaluate public engagement studies considering the following questions based on three points of attention: 1) Inclusion of underrepresented groups: who have been engaged? 2) Gathering values: what output has been reported? 3) Reaching societal impact: what objectives of public engagement have been reported? A systematic literature search from 2012 to 2023 identified 3464 articles reporting on public engagement studies regarding HGGE retrieved from 12 databases. After screening, 52 full-text articles were assessed for eligibility, resulting in 36 articles that cover 31 public engagement studies.

Diagnosing Hirschsprung Disease in Children Older than Six Months of Age: Complications After Rectal Biopsy, Insight in Final Diagnoses and Factors Associated With Hirschsprung Disease.

Introduction: It is challenging to distinguish between patients with Hirschsprung disease (HD) and patients with other causes of defecation problems based on clinical presentation in patients older than six months. Pathological examination of the rectal biopsy is the gold standard for the diagnosis of HD. The aim of this study was to gain insight into 1) the prevalence and severity of complications following rectal biopsy, 2) the final diagnoses of patients referred for biopsy, and 3) clinical factors associated with HD in patients older than six months.

Cost-effectiveness of a randomized controlled trial comparing low-dose aspirin to placebo for the prevention of recurrent preterm birth.

To assess the cost-effectiveness of low-dose aspirin compared to placebo for the prevention of recurrent preterm birth from a healthcare perspective. This was a cost-effectiveness analysis alongside a multicenter, randomized, double-blinded, placebo-controlled trial. We included women with a singleton pregnancy and a previous spontaneous preterm birth <37 weeks of gestation of a singleton.

The composition of commercially available human embryo culture media.

Study Question: What is the composition of currently available commercial human embryo culture media provided by seven suppliers, for each stage of human preimplantation embryo development?

Summary Answer: While common trends existed across brands, distinct differences in composition underlined the absence of a clear standard for human embryo culture medium formulation.

What Is Known Already: The reluctance of manufacturers to fully disclose the composition of their human embryo culture media generates uncertainty regarding the culture conditions that are used for human preimplantation embryo culture. The critical role of the embryo culture environment is well-recognized, with proven effects on IVF success rates and child outcomes, such as birth weight.

Tubal flushing with oil-based contrast during hysterosalpingography versus tubal flushing by hysterosalpingo-foam sonography in infertile women undergoing fertility work-up: study protocol of a randomised controlled trial (FOil study).

Introduction: Hysterosalpingography (HSG) and hysterosalpingo-foam sonography (HyFoSy) are commonly used tubal patency tests during the fertility work-up. Besides its diagnostic purpose, HSG with oil-based contrast can also be applied for its fertility-enhancing effect, by tubal flushing. HyFoSy is considered as less painful compared with HSG, it lacks exposure to iodinated contrast medium and ionising radiation.