Omphalocele—What should we tell the prospective parents?

An omphalocele is a congenital defect in the abdominal wall characterized by absent abdominal muscles, fascia, and skin. The characteristic ultrasound appearance includes a midline defect with herniation of abdominal contents into the base of the umbilical cord. Other anatomic abnormalities are seen in approximately 50% of cases, most notably cardiac defects (19%–32%). Approximately, 50% of cases are associated with genetic and multiple malformation syndromes including trisomy 13/18, pentalogy of Cantrell and Beckwith–Wiedemann syndrome. Therefore, a thorough evaluation is recommended, including detailed anatomic survey, fetal echocardiogram, genetic counseling, and prenatal diagnostic testing. Overall prognosis depends on the size of the omphalocele, genetic studies, and associated anomalies. Early prenatal diagnosis remains important in order to provide parental counseling and assist in pregnancy management. Delivery should occur at a tertiary care center. Timing and mode of delivery should be based on standard obstetric indications with cesarean delivery reserved for large omphalocele (>5 cm) or those that involve the fetal liver. Neonatal management involves either primary or staged reduction, both of which can be associated with a prolonged neonatal hospitalization.     

Fetal lower urinary tract obstruction: What should we tell the prospective parents?

Fetal lower urinary tract obstruction (LUTO), which often results in marked perinatal morbidity and mortality, is caused by a heterogeneous group of anatomical defects that lead to blockage of the urethra. The classic prenatal presentation of LUTO includes megacystis with hydronephrosis. While mild forms of the disease can be associated with favorable outcomes, more severe disease commonly leads to dysplastic changes in the fetal kidneys, and ultimately oligohydramnios, which can result in secondary pulmonary hypoplasia and renal failure at birth. The aim of this review is to provide practitioners with a general overview of the diagnosis and treatment of LUTO based on disease severity, along with some points to consider when counseling prospective parents of fetuses with this condition.     

Prenatal diagnosis of sex chromosome aneuploidy—What do we tell the prospective parents?

Sex chromosome aneuploidy (SCA) can be detected on prenatal diagnostic testing and cell free DNA screening (cfDNA). High risk cfDNA results should be confirmed with diagnostic testing. This summary article serves as an update for prenatal providers and assimilates data from neurodevelopmental, epidemiologic, and registry studies on the most common SCA. This information can be helpful for counseling after prenatal diagnosis of sex chromosome aneuploidy. Incidence estimates may be influenced by ascertainment bias and this article is not a substitute for interdisciplinary consultation and counseling.     

Severe early-onset fetal growth restriction: What do we tell the prospective parents?

Fetal growth restriction (FGR) is a common complication of pregnancy, associated with higher risk of perinatal mortality and adverse health and developmental outcomes for surviving infants. True FGR relates to a pathological restriction of fetal growth resulting from complex interactions between maternal, placental, fetal, and environmental factors. Early-onset FGR (onset <32 weeks' gestation) is often first suspected at routine mid-trimester sonographic assessment of fetal morphology, or identified as part of the placental syndrome, commonly maternal pre-eclampsia. Prenatal investigations may identify the cause of FGR. Timing of delivery is guided by serial sonographic surveillance of fetal growth and well-being and maternal condition, balancing the risk of stillbirth with the benefits of advancing gestation. This is particularly pertinent to severe early-onset FGR, a leading iatrogenic cause of very preterm birth. Prognosis is largely determined by the severity of FGR and its causes, gestation at birth, and birthweight. Pregnancy termination may be considered. Antenatal care and delivery in a tertiary center, provided by a multi-disciplinary team with expertise in managing high-risk pregnancies, are imperative to optimizing outcomes.     

Monochorionic diamniotic twins: What do I tell the prospective parents?

Monochorionic diamniotic twins occur in about 1 in 300 pregnancies. Compared with dichorionic twins, they face increased risks because of the shared circulation. In about 15%, an imbalance in blood exchange occurs, such as twin-twin transfusion syndrome and twin anemia polycythemia sequence. In this review, we summarize the latest evidence on the management of monochorionic diamniotic twin pregnancies and their specific complications, with a focus on information that is relevant for prospective parents.     

Klinefelter Syndrome: What should we tell prospective parents?

Klinefelter syndrome (KS) or 47,XXY is the most common sex chromosome aneuploidy (SCA), occurring at a prevalence of 1 in 600 male pregnancies. Historically, only 25% of individuals with KS came to medical attention, for a range of issues across the life course including under-virilisation at birth, developmental and social concerns in childhood, absence, delay or arrest of puberty in adolescence or infertility in adulthood. Our understanding of the phenotypic spectrum of KS has been largely influenced by this ascertainment bias. With increasing uptake of antenatal noninvasive prenatal testing (NIPT), a corresponding increase in identification of KS has been documented. Population-based longitudinal data from infancy to adulthood on these individuals is lacking, which impedes balanced antenatal genetic counselling and raises issues for prospective parents and clinicians alike.     

Prenatal diagnosis of cleft lip and/or palate: What do we tell prospective parents?

Cleft lip and/or palate (CL/CP) is the most common congenital craniofacial anomaly and parents often ask, “how did this happen?” Patients and families may benefit from access to a multidisciplinary team (MDT) from prenatal diagnosis into early adulthood. Multiple factors can contribute to the development of a cleft. We discuss the epidemiology and risk factors that increase the likelihood of having a newborn with a cleft. The purpose of this article is to review the prenatal investigations involved in the diagnosis and workup of these patients in addition to postpartum treatment, prognostic factors, and counseling families regarding future recurrence risk.     

Increased nuchal translucency after low-risk noninvasive prenatal testing: What should we tell prospective parents?

Three decades ago, the observation that first trimester fetuses with excess fluid accumulation at the back of the neck were more likely to be aneuploid, gave rise to a new era of prenatal screening. The nuchal translucency (NT) measurement in combination with serum biomarkers and maternal age, resulted in the first trimester combined screening (FTCS) program. The introduction of noninvasive prenatal testing (NIPT) over the past decade has introduced the option for parents to receive highly sensitive and specific screening information for common trisomy from as early as 10 weeks gestation, altering the traditional pathway FTCS pathway. The retention of the 11–13-week NT ultrasound remains important in the detection of structural anomalies; however, the optimal management of pregnancies with a low-risk NIPT result and an isolated increased NT measurement in an era of advanced genomic testing options is a new dilemma for clinicians. For parents, the prolonged period between the initial diagnosis in first trimester, and prognostic information at each successive stage of investigations up to 22–24 weeks, can be emotionally challenging. This article addresses the common questions from parents and clinicians as they navigate the uncertainty of having a fetus diagnosed with an increased NT after a low-risk NIPT result and presents suggested approaches to management.     

Increased nuchal translucency in euploid fetuses—what should we be telling the parents?

Nuchal translucency (NT) measurement between 11 and 14 weeks' gestation is an undisputed marker for aneuploidies. When conventional karyotyping is normal, enlarged NT is a strong marker for adverse pregnancy outcome, associated with miscarriage, intrauterine death, congenital heart defects, and numerous other structural defects and genetic syndromes. The risk of adverse outcome is proportional to the degree of NT enlargement. Although the majority of structural anomalies are amenable to ultrasound detection, unspecified genetic syndromes involving developmental delay may only emerge after birth. Concern over these prenatally undetectable conditions is a heavy burden for parents. However, following detection of enlarged NT the majority of babies with normal detailed ultrasound examination and echocardiography will have an uneventful outcome with no increased risk for developmental delay when compared to the general population. Counseling should emphasize this to help parents restore hope in normal pregnancy outcome and infant development. Copyright © 2010 John Wiley & Sons, Ltd.     

Agenesis of the corpus callosum: What to tell expecting parents?

Agenesis of the corpus callosum (ACC) is one of the most common brain malformations, with an incidence estimated to range from 0.5 to 70 in 10,000 among the general population. Prenatal diagnosis is made via ultrasound; however, fetal MRI is useful to confirm or exclude the presence of associated cerebral abnormalities–mostly cortical malformations–that may affect postnatal prognosis. When no additional central nervous system (CNS) or extra CNS anomalies are identified and no genetic cause is found, an isolated ACC is diagnosed. Overall, in cases of ACC, an underlying genetic cause can be identified in up to 12.5% with chromosomal microarray (CMA) and up to 47% with whole exome sequencing (WES). In cases where ACC is the only anomaly detected, the yield of WES is 30%. Postnatal outcomes are variable and depend on whether the condition is isolated or not. In truly isolated ACC, outcomes range from normal in 65% of cases through mild to severe neurodevelopmental impairments in 35% of cases. An interdisciplinary team of medical experts is key in guiding parents toward informed decision-making in pregnancies complicated by ACC. Considering current and expected advancements in genetic testing and imaging technologies in upcoming years, we herein summarize current recommendations for the management and prenatal counseling of expecting parents of fetuses with ACC. Our review pertains primarily to expecting parents of fetuses with complete ACC.     

Fetal arthrogryposis multiplex congenita/fetal akinesia deformation sequence (FADS)—Aetiology,diagnosis, and management

Arthrogryposis multiplex congenita (AMC) refers to an aetiologically heterogenous condition, which consists of joint contractures affecting two or more joints starting prenatally. The incidence is approximately one in 3000 live births; however, the prenatal incidence is higher, indicating a high intrauterine mortality. Over 320 genes have been implicated showing the genetic heterogeneity of the condition. AMC can be of extrinsic aetiology resulting from intrauterine crowding secondary to congenital structural uterine abnormalities (eg, bicornuate or septate uterus), uterine tumors (eg, fibroid), or multifetal pregnancy or intrinsic/primary/fetal aetiology, due to functional abnormalities in the brain, spinal cord, peripheral nerves, neuromuscular junction, muscles, bones, restrictive dermopathies, tendons and joints. Unlike many of the intrinsic/primary/fetal causes which are difficult to treat, secondary AMC can be treated by physiotherapy with good response. Primary cases may present prenatally with fetal akinesia associated with joint contractures and occasionally brain abnormalities, decreased muscle bulk, polyhydramnios, and nonvertex presentation while the secondary cases usually present with isolated contractures. Complete prenatal and postnatal investigations are needed to identify an underlying aetiology and provide information regarding its prognosis and inheritance, which is critical for the obstetrical care providers and families to optimize the pregnancy management and address future reproductive plans.     

On the significance of adult play: what does social play tell us about adult horse welfare?

Play remains a mystery and adult play even more so. More typical of young stages in healthy individuals, it occurs rarely at adult stages but then more often in captive/domestic animals, which can imply spatial, social and/or feeding deprivations or restrictions that are challenging to welfare, than in animals living in natural conditions. Here, we tested the hypothesis that adult play may reflect altered welfare states and chronic stress in horses, in which, as in several species, play rarely occurs at adult stages in natural conditions. We observed the behaviour (in particular, social play) of riding school horses during occasional outings in a paddock and measured several stress indicators when these horses were in their individual home boxes. Our results revealed that (1) the number of horses and rates of adult play appeared very high compared to field report data and (2) most stress indicators measured differed between ‘players’ and ‘non-players’, revealing that most ‘playful’ animals were suffering from more chronic stress than ‘non-playful’ horses. Frequency of play behaviour correlated with a score of chronic stress. This first discovery of a relationship between adult play and altered welfare opens new lines of research that certainly deserves comparative studies in a variety of species.     

Who should do what in environmental management? Twelve principles for allocating responsibilities

In environmental management there is often discussion on the allocation of responsibilities. Such discussions can continue for a long time and can form an obstacle for effective action. In this article twelve normative principles for the allocation of responsibilities are identified, coming from three different sources: the arguments used in discussions on responsibilities, Dutch and European law, and the environmental management literature. The principles are (1) capacity, (2) lowest social costs, (3) causation, (4) interest, (5) scale, (6) subsidiarity, (7) structural integration, (8) separation, (9) solidarity, (10) transparency, (11) stability (but not standstill), and (12) acquired rights. These principles point to fundamental tensions in environmental management and sometimes conflict with each other. At the same time they may help to resolve conflicts by providing common points of reference that are independent from the often conflicting interests of the discussants.     

Climate change and human health—what influences the adoption of adaptation programming in the United States public health system?

With growing evidence on how climate change impacts human health, public health agencies should develop adaptation programs focused on the impacts predicted to affect their jurisdictions. However, recent research indicates that public health agencies in the United States have done little to prepare the public for predicted climate change impacts, largely due in response to a lack of resources and priority. This study surveyed Environmental Health (EH) Directors across the United States to determine the extent to which individual level attitudes and beliefs influence the adoption of climate change adaptation programming in a department. The results indicate that an EH Director’s perception of the health risk posed by climate change explained 27% of the variance in the number of climate change impacts being addressed. Furthermore, the study found that environmental attitude and political views made strong, unique contributions in explaining the variance in risk perception. The results provide evidence that individual-level attitudes and beliefs, as well as organizational-level barriers influence the adoption of climate change adaptation programs in public health agencies. As a result, increasing EH Directors’ perception of risk by highlighting the likelihood and severity of localized impacts may increase the adoption of adaptation programming despite existing organizational barriers (e.g., lack of resources). Given the fact that risk perception has been shown to influence behavior across cultures, these findings are also useful for understanding the influence of individual decision makers on public health programming around the world.