Functional and imaging outcomes of the Fontan circulation following pregnancy.

Introduction: The Fontan circulation palliates single-ventricle congenital heart disease by separating the systemic and pulmonary circulations. An increasing number of women with a Fontan circulation are wishing to become pregnant, however the ability to increase cardiac output during pregnancy is limited in many due to the chronic low output state. We describe pregnancy outcomes in these women at a large tertiary centre, including functional and imaging outcomes.

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.

Cardiac implantable electronic devices in pregnancy: A position statement.

The aim of this document is to provide guidance for the management of women and birthing people with a permanent pacemaker (PPM) or implantable cardioverter defibrillator (ICD). Cardiac devices are becoming more common in obstetric practice and a reference document for contemporary evidence-based practice is required. Where evidence is limited, expert consensus has established recommendations.

Diagnosis of inborn errors of metabolism through prenatal exome sequencing with targeted analysis for fetal structural anomalies.

Objectives: The value of prenatal exome sequencing (pES) for fetuses with structural anomalies is widely reported. In England, testing is conducted through trio exome sequencing and analysis of a gene panel. Over a 30-month period testing of 921 pregnancies resulted in a genetic diagnosis in 32.

Maternal mental health: a key area for future research among women with congenital heart disease.

In this viewpoint, we respond to the recently published national priorities for research in congenital heart disease (CHD) among adults, established through the James Lind Alliance Priority Setting Partnership, with specific attention to priority 3 (mental health) and priority 5 (maternal health). Our recent policy impact project explored how maternal mental health is currently addressed in adult congenital heart disease (ACHD) services in the National Health Service, identified gaps and discussed possible ways forward. Our multidisciplinary discussion groups, which included women with lived experience of CHD and pregnancy, cardiology and obstetrics clinicians and medical anthropologists, found that while pregnancy and the postnatal period increase the mental health challenges faced by women with CHD, current services are not yet equipped to address them.

Prenatal diagnosis of PORCN-related developmental syndrome in a fetus: A novel phenotype.

We report a case of a female fetus born to an unrelated couple with a complex fetal phenotype of a pleural effusion, a cardiac malformation, and syndactyly of the toes. Prenatal exome sequencing identified a variant of uncertain significance in the PORCN gene that was upgraded to likely pathogenic following postnatal clinical examination. The phenotype described in cases with variants in the PORCN gene is often associated with findings that cannot be prospectively diagnosed by ultrasonography.

Next Generation Sequencing after Invasive Prenatal Testing in Fetuses with Congenital Malformations: Prenatal or Neonatal Investigation.

Congenital malformations diagnosed by ultrasound screening complicate 3-5% of pregnancies and many of these have an underlying genetic cause. Approximately 40% of prenatally diagnosed fetal malformations are associated with aneuploidy or copy number variants, detected by conventional karyotyping, QF-PCR and microarray techniques, however monogenic disorders are not diagnosed by these tests. Next generation sequencing as a secondary prenatal genetic test offers additional diagnostic yield for congenital abnormalities deemed to be potentially associated with an underlying genetic aetiology, as demonstrated by two large cohorts: the 'Prenatal assessment of genomes and exomes' (PAGE) study and 'Whole-exome sequencing in the evaluation of fetal structural anomalies: a prospective cohort study' performed at Columbia University in the US.

Monocytes are increased in pregnancy after gestational hypertensive disease.

Monocytes derive from bone marrow and circulate in the blood. They phagocytose, produce cytokines and present antigens. Individual monocyte subsets play distinct roles in the pathogenesis of cardiovascular disease, but their implications in gestational hypertensive disease are unclear.

Altered cardiac and vascular stiffness in pregnancy after a hypertensive pregnancy.

Hypertensive disorders of pregnancy are an important cause of morbidity and mortality, impacting on both maternal and fetal wellbeing. Affected women are at higher risk of future cardiovascular morbidity and mortality. Our study objective was to assess differences in cardiovascular function in pregnant women previously affected by gestational hypertension or preeclampsia.

The prenatal exome - a door to prenatal diagnostics?

: Prenatal exome sequencing (ES) allows parents the opportunity to obtain arapid molecular diagnosis of monogenic etiology when their fetus is found to have structural anomalies detected on prenatal ultrasound. Such information can improve antenatal and neonatal counseling, decision-making and management, and expand reproductive options in subsequent pregnancies.: This review appraises the evidence, from acomprehensive search of bibliographic databases, for the introduction of ES into the fetal medicine care pathway when investigating congenital malformations.

Medical therapy to attenuate fetal anaemia in severe maternal red cell alloimmunisation.

Haemolytic disease of the fetus and newborn (HDFN) remains an important cause of fetal mortality with potential neonatal and longer-term morbidity. HDFN is caused by maternal red cell alloimmunisation, with IgG antibodies crossing the placenta to destroy fetal erythroid cells expressing the involved antigen. Intrauterine fetal blood transfusion is the therapy of choice for severe fetal anaemia.

Red cell alloimmunization: A 2020 update.

Management of maternal red cell alloimmunization has been revolutionized over the last 60 years. Advances in the prevention, screening, diagnosis, and treatment of alloimmune-induced fetal anemia make this condition an exemplar for contemporary practice in fetal therapy. Since survival is now an expectation, attention has turned to optimization of long-term outcomes following an alloimmunized pregnancy.

Updated guidance for the management of twin and triplet pregnancies from the National Institute for Health and Care Excellence guidance, UK: What's new that may improve perinatal outcomes?

In September 2019, NICE published updated guidance on the management of multiple pregnancy (NG 137). Many of the previous recommendations for care are upheld but there have been important changes: increased frequency of combined ultrasound/specialist antenatal care appointments for pregnancies containing a monochorionic placenta (twins and triplets), increased frequency of ultrasound monitoring in all triplet pregnancies, changes in the definition of selective growth restriction and its subsequent referral pathways, the introduction of some monitoring for twin (or triplet) anemia polycythemia sequence in monochorionic pregnancies (albeit in complex pregnancies or at an advanced stage), and a recommended timing of birth for any pregnancy with monoamniotic fetuses. New recommendations have been made for mode of delivery, fetal monitoring in labor, maternal analgesia, and the prevention of postpartum hemorrhage.

Echocardiographic Structure and Function in Hypertensive Disorders of Pregnancy: A Systematic Review.

Background: Echocardiography is commonly used to direct the management of hypertensive disorders in medical patients, but its application in pregnancy is unclear. Our objective was to define the use of echocardiography in pregnancies complicated by gestational hypertension (GH) and preeclampsia.

Methods And Results: We performed a systematic review of articles using an electronic search of databases from inception to March 2015, prospectively registered with PROSPERO (CRD42015015700).