Early detection of isolated severe congenital heart defects is associated with a lower threshold to terminate the pregnancy

Introduction: Early detection of isolated severe congenital heart defects (CHDs) allows extra time for chromosomal analysis and informed decision making, resulting in improved perinatal management and patient satisfaction. Therefore, the aim of this study was to assess the value of an additional first-trimester screening scan compared to only a second-trimester scan in fetuses diagnosed with isolated severe CHDs. Prenatal detection rate, time of prenatal diagnosis, and pregnancy outcome were evaluated in the Netherlands after implementation of a national screening program.Materials and methods: We performed a retrospective geographical cohort study and included 264 pre- and postnatally diagnosed isolated severe CHD cases between January 1, 2007, and December 31, 2015, in the Amsterdam region. Severe CHD was defined as potentially life threatening if intervention within the first year of life was required. Two groups were defined: those with a first- and second-trimester anomaly scan (group 1) and those with a second-trimester anomaly scan only (group 2). A first-trimester scan was defined as a scan between 11 + 0 and 13 + 6 weeks of gestation.Results: Overall, the prenatal detection rate for isolated severe CHDs was 65%; 63% were detected before 24 weeks of gestation (97% of all prenatally detected CHDs). Prenatal detection rate was 70.2% in the group with a first- and second-trimester scan (group 1) and 58% in the group with a second-trimester scan only (group 2) (p Conclusion: Prenatal detection rate of isolated severe CHDs and termination of pregnancy rate was higher in the group with both a first- and second-trimester scan. We found no differences between timing of terminations. The additional time after diagnosis allows for additional genetic testing and optimal counseling of expectant parents regarding prognosis and perinatal management, so that well-informed decisions can be made.</p

Severe pediatric COVID-19 and multisystem inflammatory syndrome in children from wild-type to population immunity: a prospective multicenter cohort study with real-time reporting

Background:SARS-CoV-2 variant evolution and increasing immunity altered the impact of pediatric SARS-CoV-2 infection. Public health decision-making relies on accurate and timely reporting of clinical data.Methods:This international hospital-based multicenter, prospective cohort study with real-time reporting was active from March 2020 to December 2022. We evaluated longitudinal incident rates and risk factors for disease severity.Results:We included 564 hospitalized children with acute COVID-19 (n = 375) or multisystem inflammatory syndrome in children (n = 189) from the Netherlands, Curacao and Surinam. In COVID-19, 134/375 patients (36%) needed supplemental oxygen therapy and 35 (9.3%) required intensive care treatment. Age above 12 years and preexisting pulmonary conditions were predictors for severe COVID-19. During omicron, hospitalized children had milder disease. During population immunity, the incidence rate of pediatric COVID-19 infection declined for older children but was stable for children below 1 year. The incidence rate of multisystem inflammatory syndrome in children was highest during the delta wave and has decreased rapidly since omicron emerged. Real-time reporting of our data impacted national pediatric SARS-CoV-2 vaccination- and booster-policies.Conclusions:Our data supports the notion that similar to adults, prior immunity protects against severe sequelae of SARS-CoV-2 infections in children. Real-time reporting of accurate and high-quality data is feasible and impacts clinical and public health decision-making. The reporting framework of our consortium is readily accessible for future SARS-CoV-2 waves and other emerging infections.Transplantation and immunomodulatio

Seeing the unseen:The importance of prenatal screening

Through prenatal screening, we aim to reveal, discover and comprehend the unseen aspects of the fetus. It offers opportunities, reduces risks, and evaluates fetal health. Over the past decade, the field of prenatal screening has made tremendous progress. Whereas previously it was limited to a selected group, screening for chromosomal abnormalities is now offered to all pregnant individuals. While first trimester combined testing (FCT) was used before, nowadays the more accurate method involves analyzing cell free DNA (cfDNA) in maternal blood, using non-invasive prenatal testing (NIPT). For the detection of structural anomalies, ultrasounds are offered in the first- and second trimester of pregnancy. This thesis studied the importance of the prenatal screening field during its developments and throughout pregnancy with emphasis on subtle markers, such as nuchal translucency and chromosomal anomalies, and the prenatal detection of structural anomalies during the first- and second trimester of pregnancy. Topics studied included adverse pregnancy outcome and early increased nuchal translucency, sonographic features of triploid pregnancies and their parental origin, the risk of gestational trophoblastic neoplasia in partial molar pregnancies, the consequences of eliminating FCT for early detection of fetal anomalies, the influence of an additional first trimester scan on the detection of congenital heart defects and the prevalence of their genetic origin. This thesis concludes that identifying a fetal anomaly early in pregnancy provides parents with the opportunity to contemplate genetic testing and make autonomous reproductive choices, which include the option of terminating the pregnancy. However, prenatal screening, along with prenatal diagnostics, introduces uncertainty in some situations. It is essential to discuss not only the importance, but also the challenges of prenatal screening with future parents, ensuring they have realistic expectations. Because sometimes, the unseen remains unseen

Prenatal Diagnosis of Fetal Malformations by Ultrasound

Prenatal detection of fetal anomalies is considered to be an important goal of obstetric care and in many countries fetal ultrasound is an established part of routine care. This chapter provides an overview of the prenatal diagnosis of some of the most common malformations and their associated abnormalities. Neural tube defects develop when a part of the neural tube fails to close before 5 weeks of gestation. The prenatal detection rate is positively influenced by appropriate training and the application of a standardized protocol. One of the most frequent genetic syndromes associated with encephalocele is Meckel–Gruber syndrome. The sonographic findings in Dandy–Walker malformation are an enlarged fossa posterior with hypoplasia of the cerebellar vermis, dilatation of the fourth ventricle and a persistent Blake’s pouch cyst. Congenital pulmonary airway malformation is a mass of abnormal fetal lung tissue that forms in pregnancy. Congenital heart disease is the most common congenital malformatio

The Effectiveness Of Cidofovir In Disseminated Adenovirus Infections After Pediatric HSCT Is Closely Related To Lymphocyte Reconstitution

Transplantation and immunomodulatio