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After diagnosis of a fetal neurological anomaly, prospective parents want to know the best and worst‐case scenarios and an estimation of the risk to their infant of having an atypical developmental outcome. The literature on developmental outcomes for fetal neurological anomalies is poor: studies are characterized by retrospective design, small sam...
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Context 1
... chance of ambulation in myelomeningocele is linked to the lesion level (Table 6), although the functional level of a lesion may differ from its visual level on antenatal ultrasound and in utero MRI. [94][95][96] Overall, 63% to 73% of children walk to some degree, 97-99 but this may not be 'typical walking': muscle weakness, spasticity, joint anomalies, and ataxia mean ambulation may be slow, with frequent trips or falls. ...Similar publications
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Chorioamnionitis refers to the inflammation of the chorion and amnion by the bacteria and their toxins as well as by the inflammatory cytokines. Therefore, it is a fetal disease with the bacteria, their toxins as well as the fetal immunological responses involving inflammatory cytokines (interleukins, interferons, and tumour necrosis factor-alpha)...
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Citations
... There is a broad differential diagnosis of fetal ventriculomegaly that spans an array of primary and secondary structural brain abnormalities from aqueductal stenosis to cerebral dysgenesis, genetic disorders, and congenital infection, as well as intraparenchymal and intraventricular hemorrhage, and parenchymal hypoxic-ischemic injury [7]. Many cases, particularly those that are mild (<12 mm) and isolated, may reflect anatomic variation [7,8]. ...
... There is a broad differential diagnosis of fetal ventriculomegaly that spans an array of primary and secondary structural brain abnormalities from aqueductal stenosis to cerebral dysgenesis, genetic disorders, and congenital infection, as well as intraparenchymal and intraventricular hemorrhage, and parenchymal hypoxic-ischemic injury [7]. Many cases, particularly those that are mild (<12 mm) and isolated, may reflect anatomic variation [7,8]. The outcome of fetal ventriculomegaly is associated with the severity of ventriculomegaly, the presence of additional cerebral and/or systemic abnormalities, and the underlying cause [7]. ...
... Many cases, particularly those that are mild (<12 mm) and isolated, may reflect anatomic variation [7,8]. The outcome of fetal ventriculomegaly is associated with the severity of ventriculomegaly, the presence of additional cerebral and/or systemic abnormalities, and the underlying cause [7]. However, there remains a spectrum of possible outcomes even when there is severe ventriculomegaly (>15 mm) and evidence of brain malformation [9]. ...
Fetal neurology encompasses the full spectrum of neonatal and child neurology presentations, with complex additional layers of diagnostic and prognostic challenges unique to the specific prenatal consultation. Diverse genetic and acquired etiologies with a range of potential outcomes may be encountered. Three clinical case presentations are discussed that highlight how postnatal phenotyping and longitudinal follow-up are essential to address the uncertainties that arise in utero, after birth, and in childhood, as well as to provide continuity of care. Key messages • Diverse neurologic conditions may present in utero with a wide range of potential outcomes. • Prenatal prognostic counseling regarding neurodevelopmental outcome is frequently uncertain, even when a diagnosis is confirmed. • Postnatal phenotyping and longitudinal follow-up are essential to inform the diagnosis and prognosis over time, as well as to provide continuity of care. • Focusing on the developing child, their progress, and the importance of developmental enrichment and early intervention services, can help parents/caregivers navigate the unknowns after delivery.
... Predicting outcome antenatally is difficult because the range of possible outcomes for many neurological or genetic conditions is wide, or the published developmental data limited. 4 This is reflected in the wide variations of risk for atypical outcomes offered by healthcare professionals in feto-maternal units for the same condition. 23 However, outcomes in spina bifida can be predicted relatively accurately, even though the functional level of lesions may be slightly different to antenatal imaging. ...
Objective:
To describe families' experiences of antenatal counselling of spina bifida.
Design:
Systematic review.
Methods:
MEDLINE, CINAHL, PsycINFO and Embase databases were searched using a combination of Medical Subject Headings and text/abstract terms. Case reports, survey results and qualitative interview data were included. The quality of research was evaluated using the Critical Appraisal Skills Programme checklist.
Results:
8 papers were included. Families described shock and grief at diagnosis, with some immediately offered termination of pregnancy (TOP) even though they knew little about the condition. Positive and negative aspects of care were found. Teams that were gentle, kind and empathetic, who did not use jargon, and highlighted positive and negative aspects of the baby's life were seen favourably. Callous language, and overly negative or incorrect counselling was not, particularly if there was pressure to agree to TOP. Families based their decisions on how they would cope, the effect on siblings and the baby's likely quality of life. Prenatal surgery was viewed positively. The views of families who chose TOP, were happy with their care, partners, families, and the LGBTQ+ community were under-represented in the literature.
Conclusions:
Unlike other conditions where limited data on outcome exist or the spectrum is genuinely broad, the outcomes of children with spina bifida is well described. Poor aspects of antenatal counselling were described frequently by families, and further work is needed to capture the full spectrum of views on antenatal counselling, how it can be improved, and what training and resources healthcare professionals need to perform it better.
... The communication cannot be effective when it is offered while one is standing in a passageway and in a limited time frame. The counseling should be held in a quiet room in the presence of the members of the multidisciplinary team who are directly involved [8]. The obstetrician and the child neurologist should always be available. ...
Brain abnormalities detected in fetal life are being increasingly recognized. Child neurologists are often involved in fetal consultations, and specific fetal neurology training has been implemented in many countries. Pediatric neurologists are asked to examine the data available and to contribute to the definition of the long-term outcomes. Ventriculomegaly, posterior fossa malformations, and agenesis/dysgenesis of corpus callosum are among the most common reasons for antenatal neurological consultations. Fetuses with central nervous system and extra-CNS anomalies should ideally be managed in secondary/tertiary hospitals where obstetricians who are experts in fetal medicine and pediatric specialists are available. Obstetricians play a critical role in screening, performing detailed neurosonography, and referring to other specialists for additional investigations. Clinical geneticists are frequently asked to propose diagnostic tests and counsel complex fetal malformations whose phenotypes may differ from those during postnatal life. Advances in fetal MRI and genetic investigations can support the specialists involved in counseling. Nevertheless, data interpretation can be challenging, and it requires a high level of expertise in a multidisciplinary setting. Postnatally, child neurologists should be part of an integrated multidisciplinary follow-up, together with neonatologists and pediatricians. The neurodevelopmental outcomes should be assessed at least up to school age. Children should be evaluated with formal tests of their gross motor, cognitive, language, fine motor/visuo-perceptual skills, and their behavior. In this perspective, fetal neurology can be regarded as the beginning of a long journey which continues with a prolonged, structured follow-up, support to the families, and transition to adult life. A review of the most common conditions is presented, along with the long-term outcomes and a proposal of the neurodevelopmental follow-up of children with CNS malformation which are diagnosed in uterus.
... We were told that a stillbirth was, in fact, unlikely and that around three quarters of children with isolated ACC had an outcome in the normal range. 1 Furthermore, we were helped to consider what life might look like with a child with additional needs; what impact it might have on our family; and how the child themselves might experience life. ...
... I whole-heartedly support the recommendations set out by Hart et al. 1,2 and would like to offer these comments. ...
... Part 2 of our review will discuss the published risks of atypical developmental outcome in a range of common fetal neurological anomalies. 6 ...
Prospective parents whose fetus is diagnosed with a neurological anomaly go through a complex range of emotions. They describe their discussions of antenatal counselling from health care professionals as focusing too much on the nature of the anomaly involving unintelligible medical terminology, when what they really want is a picture of the best‐ and worst‐case scenarios. Whilst information on the level of risk for their fetus is important, it is not the parents’ primary concern. When statistics for risk are given, they may not be as well understood as the health care professionals think. This review discusses the published evidence on antenatal counselling and recommendations for explaining risk to parents of fetuses with neurological anomalies. From this data we make recommendations for the organization of antenatal counselling services.
Background
With the advancement of prenatal diagnosis technology, the detection rate of fetal abnormalities continues to increase, imposing a significant burden on both society and families. A retrospective analysis of essential information about pregnant women, such as their pregnancy history and delivery details, is crucial for understanding the primary factors that influence pregnancy outcomes in women with fetal abnormalities. This analysis is of great significance for improving the level of pregnancy management and outcomes in pregnant women with fetal abnormalities.
Objective
To retrospectively analyze the pregnancy outcomes of women with fetal abnormalities and explore the factors that influence these outcomes.
Methods
Pregnant women’s pregnancy outcomes were collected from the medical information system and through telephone follow-ups. The chi-square test and logistic regression were used to analyze the factors influencing pregnancy outcomes.
Results
Among 265 pregnant women diagnosed with fetal abnormalities, 190 chose to continue the pregnancy, while 75 chose to terminate it. Pregnant women with multiple fetal abnormalities (OR = 3.774, 95% CI [1.640–8.683]) were more likely to choose termination of pregnancy (TOP), and pregnant women who were advised to terminate their pregnancy or make a careful choice were more likely to terminate the pregnancy (OR = 41.113, 95% CI [11.028–153.267]).
Conclusion
The number of organs involved in fetal abnormalities and treatment recommendations were identified as the primary factors influencing pregnancy outcomes. Improving awareness of maternal health care during pregnancy, early pregnancy screening technology, and a multidisciplinary diagnosis and treatment approach are of great significance in assisting pregnant women in making informed decisions and improving fetal prognosis.
Fetal cerebral ventriculomegaly is one of the most common fetal neurological disorders identified prenatally by neuroimaging. The challenges in the evolving landscape of conditions like fetal cerebral ventriculomegaly involve accurate diagnosis and how best to provide prenatal counseling regarding prognosis as well as postnatal management and care of the infant. The purpose of this narrative review is to discuss the literature on fetal ventriculomegaly, including postnatal management and neurodevelopmental outcome, and to provide practice recommendations for pediatric neurologists.
Prenatal Exome (pES) or Genome (pGS) Sequencing analysis showed a significant incremental diagnostic yield over karyotype and chromosomal microarray analysis (CMA) in fetal structural anomalies. Optimized indications and detection rates in different fetal anomalies are still under investigation. The aim of this study was to assess the incremental diagnostic yield in prenatally diagnosed Central Nervous System (CNS) anomalies. A systematic review on antenatal CNS anomalies was performed according to PRISMA guidelines, including n = 12 paper, accounting for 428 fetuses. Results were pooled in a meta-analysis fitting a logistic random mixed-effect model. The effect of interest was the incremental diagnostic rate of pES over karyotype/CMA in detecting likely pathogenic/pathogenic Single Nucleotide Variants (SNVs). A further meta-analysis adding the available pGS studies (including diagnostic coding SNVs only) and submeta-analysis on three CNS subcategories were also performed. The pooled incremental diagnostic yield estimate of pES studies was 38% (95% C.I.: [29%;47%]) and 36% (95% C.I.: [28%;45%]) when including diagnostic SNVs of pGS studies. The point estimate of the effect resulted 22% (95% C.I.: [15%;31%]) in apparently isolated anomalies, 33% (95% C.I.: [22%;46%]) in CNS-only related anomalies (≥1) and 46% (95% C.I.: [38%;55%]) in non-isolated anomalies (either ≥ 2 anomalies in CNS, or CNS and extra-CNS). Meta-analysis showed a substantial diagnostic improvement in performing Prenatal Genome-Wide Sequencing analysis (Exome or Genome) over karyotype and CMA in CNS anomalies.
