Fetal Neurology: From Prenatal Counseling to Postnatal Follow-Up

Abstract

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.

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

“…Throughout the prenatal period, it is highly recommended that all pregnancies complicated by ACC are monitored by an interdisciplinary team, including maternal fetal medicine specialists, midwives, genetic counselors, social workers, neuroradiologists, fetal pathologists, pediatricians, pediatric neurologists, clinical geneticists, and neonatologists 3,45 …”

“…In apparently isolated cases with normal genetic workup, delivery can occur in a community center. However, in complex cases with additional anomalies or in cases in which an underlying genetic cause is identified, delivery should be planned in advance with prior consultation with the pediatric team and take place at a tertiary facility that can accommodate for the supportive resources that may be required 45 . Postnatally, plans should be made for developmental and neurological follow up.…”

“…Postnatally, plans should be made for developmental and neurological follow up. Neonatal neurological examinations should be undertaken within the first month of life, and postnatal MRI is mandatory to confirm findings from fetal imaging or exclude the presence of other cerebral abnormalities 45 . Of note, MRI does not harm either the fetus or neonate if contrast agent is avoided 48,49 .…”

“…Apart from these symptoms, those born with isolated ACC may have normal intelligence quotients with some cognitive deficits, including those noted in the core syndrome 50 . Subtle cognitive deficits can however be revealed later in life 45 . Generally, studies assessing neurodevelopmental outcomes in patients with ACC vary with respect to the definition of the mental disability, sample size studied, consideration of socio‐cultural, economic, and educational factors contributing to neurocognitive performance, and lack a standardized pre‐ and postnatal medical workup protocol 30 .…”

“…Throughout the prenatal period, it is highly recommended that all pregnancies complicated by ACC are monitored by an interdisciplinary team, including maternal fetal medicine specialists, midwives, genetic counselors, social workers, neuroradiologists, fetal pathologists, pediatricians, pediatric neurologists, clinical geneticists, and neonatologists. 3,45 At after birth, the treatment options, and what their child's quality of life can be. The key point in counseling is the differentiation between isolated and non-isolated ACC, as the prognosis changes significantly with each diagnosis.…”