Variations and Opportunities in Postnatal Management of Hemolytic Disease of the Fetus and Newborn.

Importance: Preventive efforts in pregnancy-related alloimmunization have considerably decreased the prevalence of hemolytic disease of the fetus and newborn (HDFN). International studies are therefore essential to obtain a deeper understanding of the postnatal management and outcomes of HDFN. Taken together with numerous treatment options, large practice variations among centers may exist.

Evaluation of the clinical effect of a nationwide implementation of targeted routine antenatal anti-D prophylaxis in Denmark.

Background: In 2010, Denmark was the first country to implement a targeted routine antenatal anti-D prophylaxis (tRAADP) program, offering fetal RHD genotyping to all nonimmunized D negative pregnant women. The program represented a shift from only postnatal prophylaxis to a combined antenatal and postnatal prophylaxis. This study aimed to evaluate the clinical effect of tRAADP in Denmark.

Variations in antenatal management and outcomes in haemolytic disease of the fetus and newborn: an international, retrospective, observational cohort study.

Background: Advances in haemolytic disease of the fetus and newborn have led to numerous treatment options. We report practice variations in the management and outcomes of haemolytic disease of the fetus and newborn in at-risk pregnancies.

Methods: In this international, retrospective, observational cohort study, data from cases with moderate or severe haemolytic disease of the fetus and newborn were retrieved from 31 centres in 22 countries.

Clinical implementation of first trimester screening for congenital heart defects.

Objective: To examine the feasibility and performance of implementing a standardized fetal cardiac scan at the time of a routine first-trimester ultrasound scan.

Method: A retrospective, single-center study in an unselected population between March 2021 and July 2022. A standardized cardiac scan protocol consisting of a four-chamber and 3-vessel trachea view with color Doppler was implemented as part of the routine first-trimester scan.

Maternal age and the risk of fetal aneuploidy: A nationwide cohort study of more than 500 000 singleton pregnancies in Denmark from 2008 to 2017.

Introduction: In this register-based study of pregnancies in Denmark, we assessed the associations between maternal age and the risk of fetal aneuploidies (trisomy 21, trisomy 18, trisomy 13, triploidy, monosomy X and other sex chromosome aberrations). Additionally, we aimed to disentangle the maternal age-related effect on fetal aneuploidies by cases with translocation trisomies and mosaicisms.

Material And Methods: We followed a nationwide cohort of 542 375 singleton-pregnant women attending first trimester screening in Denmark between 2008 and 2017 until delivery, miscarriage or termination of pregnancy.

Preeclampsia and Long-Term Risk of Venous Thromboembolism.

Importance: As venous thromboembolism (VTE) remains one of the leading causes of maternal mortality, identifying women at increased risk of VTE is of great importance. Preeclampsia is a pregnancy-induced hypertensive disorder with generalized endothelial dysfunction. Some studies suggest that preeclampsia is associated with an increased risk of VTE, but much controversy exists.

Validity evidence supporting clinical skills assessment by artificial intelligence compared with trained clinician raters.

Background: Artificial intelligence (AI) is becoming increasingly used in medical education, but our understanding of the validity of AI-based assessments (AIBA) as compared with traditional clinical expert-based assessments (EBA) is limited. In this study, the authors aimed to compare and contrast the validity evidence for the assessment of a complex clinical skill based on scores generated from an AI and trained clinical experts, respectively.

Methods: The study was conducted between September 2020 to October 2022.

Risk of adverse pregnancy outcome in isolated single umbilical artery diagnosed at the mid-trimester anomaly scan: a large Danish retrospective cohort study.

Objective: To examine the association of isolated single umbilical artery (iSUA) confirmed at the mid-trimester anomaly scan and adverse pregnancy outcome and congenital malformations with up to 10 years postnatal follow up.

Methods: This retrospective cohort study included 116,501 singleton pregnancies consecutively enrolled in first trimester screening for aneuploidies and mid-trimester anomaly scan at three University Hospitals in the Capital Region of Copenhagen, Denmark.Data from the Danish Fetal Medicine Database (2008-2017) were verified by manually scrutinizing pre- and postnatal records.

A decade of change - lessons learned from prenatal diagnostics in Central Denmark region in 2008-2018.

Introduction: In 2011, it was decided to implement chromosomal microarray in prenatal testing in the Central Denmark Region, mainly due to the expected higher diagnostic yield. Chromosomal microarray was introduced gradually for an increasing number of pregnancies and without a transition period where both karyotyping and chromosomal microarray were performed: first malformations (2011), then large nuchal translucency (2013), then high risk at combined first trimester risk screening (2016) and finally for all indications (2018). This retrospective study summarizes 11 years of using chromosomal microarray in invasive prenatal testing and presents the effect on diagnostic yield and turnaround time.

Triple trouble: uncovering the risks and benefits of early fetal reduction in trichorionic triplets in a large national Danish cohort study.

Background: Triplet pregnancies are high risk for both the mother and the infants. The risks for infants include premature birth, low birthweight, and neonatal complications. Therefore, the management of triplet pregnancies involves close monitoring and may include interventions, such as fetal reduction, to prolong the pregnancy and improve outcomes.

Inclusion of sex chromosomes in noninvasive prenatal testing in Asia, Australia, Europe and the USA: A survey study.

Objective: To examine the extent to which sex chromosomes are included in current noninvasive prenatal testing (NIPT) and the reporting practices with respect to fetal chromosomal sex and sex chromosome aberrations (SCAs), in addition to an update on the general implementation of NIPT.

Method: A questionnaire addressing the research objectives was distributed by email to fetal medicine and clinical genetics experts in Asia, Australia, Europe and the USA.

Results: Guidelines on NIPT are available in the majority of the included countries.

Risks and pregnancy outcome after fetal reduction in dichorionic twin pregnancies: a Danish national retrospective cohort study.

Background: Twin pregnancies carry a higher risk of congenital and structural malformations, and pregnancy complications including miscarriage, stillbirth, and intrauterine fetal death, compared with singleton pregnancies. Carrying a fetus with severe malformations or abnormal karyotype places the remaining healthy fetus at an even higher risk of adverse outcome and pregnancy complications. Maternal medical conditions or complicated obstetrical history could, in combination with twin pregnancy, cause increased risks for both the woman and the fetuses.

The use of paracetamol during pregnancy: A qualitative study and possible strategies for a clinical trial.

Paracetamol (N-acetyl-p-aminophenol (APAP), also known as acetaminophen) is used to relieve mild to moderate pain and reduce fever. APAP is widely used during pregnancy as it is considered safe when used as directed by regulatory authorities. However, a significant amount of epidemiological and experimental research suggests that prenatal exposure potentially alters fetal development.

Cell-Based NIPT Detects 47,XXY Genotype in a Twin Pregnancy.

The existing risk of procedure-related miscarriage following invasive sampling for prenatal diagnosis is higher for twin pregnancies and some women are reluctant to test these typically difficultly obtained pregnancies invasively. Therefore, there is a need for noninvasive testing options that can test twin pregnancies at an early gestational age and ideally test the twins individually. A pregnant woman opted for cell-based NIPT at GA 10 + 5.

Second-trimester cardiovascular biometry in growth-restricted fetuses; a multicenter cohort study.

Background: Intrauterine growth restriction is associated with an increased risk of cardiovascular changes neonatally. However, the underlying pathways are poorly understood, and it is not clear whether the dysfunction is already present in the fetus.

Objective: This study aimed to investigate fetal cardiac dimensions assessed from images at the second trimester anatomy scan from fetuses classified postnatally as small for gestational age and intrauterine growth restricted and compare them with appropriate for gestational age fetuses.

Home management by remote self-monitoring in intermediate- and high-risk pregnancies: A retrospective study of 400 consecutive women.

Introduction: Home management in general is considered to improve patient well-being, patient involvement and cost-effectiveness, for obstetric patients as well. But concerns regarding inclusion of intermediate- and high-risk pregnant women are an issue and a limitation for clinical implementation. This retrospective study evaluated the outcome and safety of extended remote self-monitoring of maternal and fetal health in intermediate- and high-risk pregnancies.

Prenatally detected isolated ventricular septum defects and the association with chromosomal aberrations-A nationwide register-based study from Denmark.

Objective: To evaluate the association between prenatally detected isolated ventricular septum defects (VSDs) and chromosomal aberrations in a nationwide study in Denmark.

Method: Nationwide, register-based study with prospectively collected data including all singleton pregnancies from 2014-2018. From the Danish Fetal Medicine Database, we retrieved data on maternal characteristics, first-trimester biomarkers, pre- and postnatal diagnoses, genetic test results, and pregnancy outcomes.

Increased prenatal detection of 22q11.2 deletion and 22q11.2 duplication after introduction of nationwide prenatal screening for trisomy 21, trisomy 13, and trisomy 18.

Objective: To evaluate time of diagnosis of 22q11.2 deletion and 22q11.2 duplication as well as trisomies 21, 13, and 18 before and after introduction of a prenatal screening program including combined first-trimester screening (cFTS) for the trisomies in Denmark in 2004.

Refractory Fetal Supraventricular Tachycardia with Hydrops Successfully Converted by Intraperitoneal Flecainide in the Fetus: A Case Report.

Introduction: Supraventricular tachycardia is the most common fetal tachyarrhythmia and if persistent often associated with fetal hydrops which can cause intrauterine and neonatal death.

Case Presentation: We present a case of early second trimester supraventricular tachycardia in a hydropic fetus, initially refractory to transplacental treatment.

Conclusion: The supraventricular tachycardia was successfully treated when supplemented with intraperitoneal flecainide in the fetus.

How do geneticists and prospective parents interpret and negotiate an uncertain prenatal genetic result? An analysis of clinical interactions.

Variants of unknown significance (VUS) and susceptibility loci (SL) are a challenge in prenatal genetic counseling. The aim of this study was to explore how such uncertain genetic results are communicated, negotiated, and made meaningful by genetics healthcare providers and couples in the actual clinical setting where results are delivered. The study was based on an anthropological approach and the material consisted of observations and audio-recordings from 16 purposively sampled genetic counseling sessions where prenatal testing had identified an inherited or de novo VUS or SL result.

Implementation of exome sequencing in fetal diagnostics-Data and experiences from a tertiary center in Denmark.

Introduction: Applying whole-exome sequencing (WES) for the diagnosis of diseases in children has shown significant diagnostic strength compared with chromosomal microarray. WES may also have the potential of adding clinically relevant prenatal information in cases where a fetus is found to have structural anomalies. We present results from the first fetal exomes performed in a tertiary center in Denmark.

"It's probably nothing, but…" Couples' experiences of pregnancy following an uncertain prenatal genetic result.

Introduction: A common concern regarding the introduction of chromosomal microarray in prenatal testing is the concomitant identification of an uncertain copy number variant (CNV) where significance and clinical implication for the unborn child can be difficult or impossible to predict. Following the identification of an uncertain CNV, prospective parents may decide to continue the pregnancy. The aim of this study was to explore how prospective parents manage uncertainty and experience pregnancy in light of an uncertain CNV result.

"This is the child we were given": A qualitative study of Danish parents' experiences of a prenatal Down syndrome diagnosis and their decision to continue the pregnancy.

Objectives: Termination rates when Down syndrome (DS) is diagnosed prenatally are high in most countries. Thus, the present study aimed to explore how parents of prenatally diagnosed children with DS experienced the diagnostic process and their decision to continue the pregnancy.

Methods: Data from a semi-structured, qualitative interview study with eight mothers and five fathers of prenatally diagnosed children with DS born between 2008 and 2017 were analyzed using thematic analysis.

Sertraline use during pregnancy and effect on fetal cardiac function.

Objectives: The objective of this study was to evaluate the fetal cardiac function in human pregnancies exposed to sertraline (a selective serotonin reuptake inhibitor) compared to unexposed pregnancies.

Method: We included 44 women in gestational week 25 + 0 days to week 26 + 6 days. Fifteen women used sertraline (50-150 mg per day), and 29 women used no daily medication.

The accuracy of prenatal diagnosis of major congenital heart disease is increasing.

Regular audit of results of prenatal screening for congenital heart disease (CHD) is crucial to ensure reliable prenatal diagnosis. We aimed to assess the accuracy of prenatal diagnosis of major CHD between 1996 and 2013. During the study period, prenatal detection of major CHD improved from 4.