Hydrops and congenital diaphragmatic hernia: reported incidence and postnatal outcomes. Analysis of the congenital diaphragmatic hernia study group registry.

Objective: Congenital Diaphragmatic Hernia (CDH) associated with hydrops is rare. The aim of this study was to describe the incidence of this combination of anomalies and the postnatal outcomes from a large database for CDH.

Study Design: Data from the multicenter, multinational database on infants with prenatally diagnosed CDH (CDHSG Registry) born from 2015 to 2021 were analyzed.

European reference network for rare inherited congenital anomalies (ERNICA) evidence based guideline on the management of gastroschisis.

Background: The European Reference Network for rare Inherited Congenital Anomalies, ERNICA, guidelines for gastroschisis cover perinatal period to help teams to improve care.

Method: A systematic literature search including 136 publications was conducted. Research findings were assessed following the GRADE methodology.

Identification of protein biomarkers associated with congenital diaphragmatic hernia in human amniotic fluid.

Congenital diaphragmatic hernia (CDH) is a severe birth defect frequently associated with pulmonary hypoplasia, pulmonary hypertension, and heart failure. Since amniotic fluid comprises proteins of both fetal and maternal origin, its analysis could provide insights on mechanisms underlying CDH and provide biomarkers for early diagnosis, severity of pulmonary changes and treatment response. The study objective was to identify proteomic changes in amniotic fluid consistently associated with CDH.

Syndromic congenital diaphragmatic hernia: Current incidence and outcome. Analysis from the congenital diaphragmatic hernia study group registry.

Background: The aim of this study was to describe the incidence of Congenital Diaphragmatic Hernia, CDH, associated with known or clinically suspected syndromes, and the postnatal outcomes from a large database for CDH.

Methods: Data from the multicenter, multinational database on infants with CDH (Congenital Diaphragmatic Hernia Study Group Registry) born from 1996 to 2020 were analyzed. Patients with known or suspected syndromes were grouped and outcome data were analyzed and compared to those without syndromic features.

Comparing the results from a Swedish pregnancy cohort using data from three automated placental growth factor immunoassay platforms intended for first-trimester preeclampsia prediction.

Introduction: Risk evaluation for preeclampsia in early pregnancy allows identification of women at high risk. Prediction models for preeclampsia often include circulating concentrations of placental growth factor (PlGF); however, the models are usually limited to a specific PlGF method of analysis. The aim of this study was to compare three different PlGF methods of analysis in a Swedish cohort to assess their convergent validity and appropriateness for use in preeclampsia risk prediction models in the first trimester of pregnancy.

Accuracy and validity of determined cause of death and manner of death following forensic autopsy prosection.

Aims: The purpose of this study is to evaluate the accuracy and validity of the determination of cause of death (COD) and manner of death (MOD) at the completion of the forensic autopsy prosection.

Methods: We analysed 952 autopsy cases conducted from 2019 to 2020 and compared every patient's COD, other significant contributing factors to death (OSC), and MOD after prosection to their COD, OSC and MOD after completion of the final autopsy report.

Results: We found that 83% of cases (790 patients) did not have an unexpected change and 17% of cases (162 patients) exhibited a true change in their final diagnosis; the relationship between age and changes in COD and MOD was significant.

Comparative performance of COVID-19 serology testing.

Background: The 2019 novel coronavirus infectious disease (COVID-19) pandemic resulted in a surge of assays aimed at detecting severe acute respiratory syndrome (SARS) - coronavirus (CoV) - 2 infection and prior exposure. Although both molecular and antigen testing have clearly defined uses, the utility of serology remains uncertain and is presently not recommended for assessing immunity.

Methods: We conducted a pragmatic, observational study evaluating four commercially available emergency use authorized laboratory-based COVID-19 serology assays (Assays A-D).

The natural history of prenatally diagnosed congenital pulmonary airway malformations and bronchopulmonary sequestrations.

Background: The natural history of congenital pulmonary airway malformations (CPAM) and bronchopulmonary sequestrations (BPS) is not fully understood, and the management of the newborn with an asymptomatic lesion is a controversial issue. We aimed to study the natural history and outcome of CPAM/BPS at our institution with a policy of watchful waiting, and to investigate if any prognostic factors in the pre- and/or postnatal- period may predict the need for surgery.

Material And Methods: A retrospective review study was conducted of children prenatally diagnosed with CPAM and/or BPS during the 18-year period, from 2002 to 2020.

Congenital presentation of synchronous Atypical Teratoid Rhabdoid Tumor and Malignant Rhabdoid Tumor of the urinary bladder in a term infant.

Atypical teratoid/rhabdoid tumor (AT/RT) is a rare central nervous system (CNS) tumor diagnosed primarily in infants and usually portends a poor prognosis. Despite being the most common embryonal tumor in children less than 1 year old, diagnosis is difficult to make based on clinical findings or imaging alone. A complete diagnosis of AT/RT requires identification of loss of integrase interactor 1 (INI1) protein or the SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily b, member 1 () gene, in its most common presentation.

Study for Improving Maternal Pregnancy And Child ouTcomes (IMPACT): a study protocol for a Swedish prospective multicentre cohort study.

Introduction: First-trimester pregnancy risk evaluation facilitates individualised antenatal care, as well as application of preventive strategies for pre-eclampsia or birth of a small for gestational age infant. A range of early intervention strategies in pregnancies identified as high risk at the end of the first trimester has been shown to decrease the risk of preterm pre-eclampsia (<37 gestational weeks). The aim of this project is to create the Improving Maternal Pregnancy And Child ouTcomes (IMPACT) database; a nationwide database with individual patient data, including predictors recorded at the end of the first trimester and later pregnancy outcomes, to identify women at high risk of pre-eclampsia.

Detection rates and residual risk for a postnatal diagnosis of an atypical chromosome aberration following combined first-trimester screening.

Objectives: To determine the detection rates of all types of chromosome aberrations and the residual risk for postnatal diagnosis of an atypical chromosome aberration depending on the strategy for further investigation with either noninvasive prenatal testing (NIPT) or invasive testing in pregnancies with increased risk following combined first-trimester screening (cFTS).

Methods: A review of all pregnancies examined with cFTS during 2010 to 2017.

Results: The cohort consisted of 129 493 pregnancies.

Investigating Transfusion-related Sepsis Using Culture-Independent Metagenomic Sequencing.

Background: Transfusion-related sepsis remains an important hospital infection control challenge. Investigation of septic transfusion events is often restricted by the limitations of bacterial culture in terms of time requirements and low yield in the setting of prior antibiotic administration.

Methods: In 3 gram-negative septic transfusion cases, we performed metagenomic next-generation sequencing (mNGS) of direct clinical blood specimens in addition to standard culture-based approaches utilized for infection control investigations.

[EXIT: Experiences from Karolinska University Hopsital].

The main, but not sole, indication for an Ex-utero Intrapartum Treatment (EXIT) delivery is an airway obstruction due to either laryngeal atresia or tumors in the head and neck region. Here we present our Institution's experience with eleven cases: three teratomas, four lymphatic malformations, two laryngeal atresias and two dermoid cysts. The EXIT procedure was used to secure the fetal airway while maintaining uteroplacental gas exchange and fetal hemodynamic stability through the umbilical circulation.

Maternal Risk Factors and Perinatal Characteristics in Congenital Diaphragmatic Hernia: A Nationwide Population-Based Study.

Background: The etiology of congenital diaphragmatic hernia (CDH) remains poorly understood. We hypothesize that environmental factors play an important role in the development of CDH.

Aim: The objective of this study was to investigate associated maternal risk factors in pregnancies with CDH.

Accuracy and impact of prenatal diagnosis in infants with omphalocele.

Background: Associated anomalies in omphalocele are common, but to which extent these anomalies are diagnosed before or after birth is less well documented.

Aim: To investigate the different types of associated anomalies, long-term survival and the extent whether these are diagnosed pre- or postnatally in children with a prenatal diagnosis of omphalocele at a single institution.

Materials And Methods: Retrospective review of all pregnancies with omphalocele managed and/or born at our institution between 2006 and 2016.

The Swedish Pregnancy Register - for quality of care improvement and research.

Introduction: The objective of this study was to present the Swedish Pregnancy Register and to explore regional differences in maternal characteristics, antenatal care, first trimester combined screening and delivery outcomes in Sweden.

Material And Methods: The Pregnancy Register (www.graviditetsregistret.

[Prenatal first trimester fetal diagnosis in Sweden today and in the future].

Prenatal first trimester fetal diagnosis in Sweden today and in the future The combined first trimester test for detection of trisomy 21 has been available in Sweden the last 10 years but the uptake among pregnant women is still less than 50% and varies largely between different regions. The non-invasive prenatal test (NIPT) has been introduced and is currently recommended to be used as a secondary test only in those women who have an increased risk following the combined test. With falling costs for NIPT and a general offer of this test as a primary screening tool to all women there is concern that the first trimester ultrasound scan will be abandoned.

[Advances in fetal surgery].

Advances in fetal surgery Fetal surgery is a subspeciality that is evolving rapidly with focus on improving the natural history of congenital malformations and conditions that are either life threatening or cause severe disability. Fetal surgery for myelomeningocele has been shown to improve neurologic outcome, motor function and to reduce the need of ventriculo-peritoneal shunting after birth compared to postnatal care. However, it conveys an increased risk of preterm birth and maternal morbidity.

Prenatal diagnosis in Sweden 2011 to 2013-a register-based study.

Background: Prenatal diagnosis involves methods used in early pregnancy as either screening tests or diagnostic methods. The aims of the study were to i) investigate guidelines on prenatal diagnosis in the counties of Sweden, ii) investigate uptake of prenatal diagnosis, and iii) background characteristics and pregnancy outcomes in relation to different prenatal diagnostic methods.

Methods: A retrospective cross-sectional study using data from the Swedish Pregnancy Register 2011 to 2013 (284,789 pregnancies) was performed.

Differences in Outcomes in Prenatally Diagnosed Congenital Diaphragmatic Hernia Compared to Postnatal Detection: A Single-Center Experience.

Objectives: To compare outcomes in pregnancies with a prenatal detection of congenital diaphragmatic hernia (CDH) with children diagnosed after birth, treated at the same institution, and to determine the ability to predict prognosis through measurements of the observed to expected lung-to-head ratio (O/E LHR).

Methods: This is a retrospective review of all children with CDH treated at our institution during 2006-2014. We compared outcomes of infants referred for surgery after postnatal diagnosis with outcomes of infants with prenatally diagnosed CDH.

Outcome in 212 anti-Ro/SSA-positive pregnancies and population-based incidence of congenital heart block.

Introduction: We investigated the effects of maternal autoimmune disease and fetal congenital heart block (CHB) on pregnancy outcomes in anti-Ro/SSA-positive women and assessed the population-based incidence of isolated CHB.

Material And Methods: One hundred and ninety nine anti-Ro/SSA-positive pregnancies were prospectively followed at our center (2000-2013). Seven fetuses developed atrioventricular block (AVB) II-III.

Outcomes in infants with prenatally diagnosed gastroschisis and planned preterm delivery.

Background: The timing and mode of delivery of pregnancies with prenatally diagnosed gastroschisis remains controversial.

Aim: To evaluate the outcome of patients with gastroschisis managed during two time periods: 2006-2009 and 2010-2014, with planned elective cesarean delivery at 37 versus 35 gestational weeks (gw). A secondary aim was to analyze the outcome in relation to the gestational age at birth.