Sonographic detection of central nervous system defects in the first trimester of pregnancy

Engels, Alexander; Joyeux, Luc; Brantner, Christine A.; Keersmaecker, B. De; Catte, Luc De; Baud, David; Deprest, Jan; Mieghem, Tim Van

doi:10.1002/pd.4770

Cited by 54 publications

(45 citation statements)

References 96 publications

(178 reference statements)

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“…ACC can be complete or partial and is found in up to 0.03% to 0.07% of second trimester ultrasounds (Figure I‐K). It affects 1.8/10 000 overall, but the incidence of ACC is significantly higher in children with neurodevelopmental delay (2%‐3%), and it is often part of a syndrome . Prenatal diagnosis of ACC can be difficult and is often delayed until after 20 weeks of gestation because the corpus callosum is not fully formed before 18 to 20 weeks, but early signs including absence of the cavum septum pellucidum (CSP), abnormal course of the pericallosal artery, and colpocephaly of the lateral ventricles can raise suspicion for ACC .…”

Section: Common Prenatally Diagnosed Cns Defectsmentioning

confidence: 99%

Prenatally diagnosed developmental abnormalities of the central nervous system and genetic syndromes: A practical review

Veyver

2019

Prenatal Diagnosis

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Developmental brain abnormalities are complex and can be difficult to diagnose by prenatal imaging because of the ongoing growth and development of the brain throughout pregnancy and the limitations of ultrasound, often requiring fetal magnetic resonance imaging as an additional tool. As for all major structural congenital anomalies, amniocentesis with chromosomal microarray and a karyotype is the first‐line recommended test for the genetic work‐up of prenatally diagnosed central nervous system (CNS) abnormalities. Many CNS defects, especially neuronal migration defects affecting the cerebral and cerebellar cortex, are caused by single‐gene mutations in a large number of different genes. Early data suggest that prenatal diagnostic exome sequencing for fetal CNS defects will have a high diagnostic yield, but interpretation of sequencing results can be complex. Yet a genetic diagnosis is important for prognosis prediction and recurrence risk counseling. The evaluation and management of such patients is best done in a multidisciplinary team approach. Here, we review general principles of the genetic work‐up for fetuses with CNS defects and review categories of genetic causes of prenatally diagnosed CNS phenotypes.

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Section: Common Prenatally Diagnosed Cns Defectsmentioning

confidence: 99%

Prenatally diagnosed developmental abnormalities of the central nervous system and genetic syndromes: A practical review

Veyver

2019

Prenatal Diagnosis

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“…It is also the case that termination of pregnancy, if ultimately chosen by the parents, is safer and more easily performed at earlier gestations. Several sonographic signs have been described to aid first trimester detection of spina bifida . The most extensively researched of these are the intracranial translucency, brainstem diameter, brainstem–occipital bone distance, aqueduct of Sylvius to occiput distance and frontomaxillary facial angle.…”

Section: Introductionmentioning

confidence: 99%

Fetal surgery for open spina bifida

Sacco

Ushakov

Thompson

et al. 2019

The Obstetric & Gynaecologis

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Key content Spina bifida is a congenital neurological condition with lifelong physical and mental effects. Open fetal repair of the spinal lesion has been shown to improve hindbrain herniation, ventriculoperitoneal shunting, independent mobility and bladder outcomes for the child and, despite an increased risk of prematurity, does not seem to increase the risk of neurodevelopmental impairment. Open fetal surgery is associated with maternal morbidity. Surgery at our institution is offered and performed according to internationally agreed criteria and protocols. Further evidence regarding long‐term outcomes, fetoscopic repair and alternative techniques is awaited. Learning objectives To understand the clinical effects, potential prevention and prenatal diagnosis of spina bifida. To understand the rationale and evidence supporting the benefits and risks of fetal repair of open spina bifida. To understand the criteria defining those who are likely to benefit from fetal surgery. Ethical issues The concept of the fetus as a patient, and issues surrounding fetal death or the need for resuscitation during fetal surgery. The associated maternal morbidity in a procedure performed solely for the benefit of the fetus/child. The financial implications of new surgical treatments.

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“…Screening programmes have made the prenatal diagnosis more likely and advances in prenatal imaging methods prompted an earlier diagnosis and better characterisation of the impact of SBA 14. Over the last 30 years it became obvious that the condition is progressive in utero as is suggested by the ‘two-hit’ hypothesis, that is, an initial embryonic failure in neurulation, followed by secondary changes by continuous exposure of the spinal cord to the intrauterine environment and a suction gradient on the hindbrain 15–21.…”

Section: Introduction and Rationalementioning

confidence: 99%

Fetal surgery for spina bifida aperta

Joyeux

Danzer

Flake

et al. 2018

Arch Dis Child Fetal Neonatal Ed

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Spina bifida aperta (SBA) is one of the most common congenital malformations. It can cause severe lifelong physical and neurodevelopmental disabilities. Experimental and clinical studies have shown that the neurological deficits associated with SBA are not simply caused by incomplete neurulation at the level of the lesion. Additional damage is caused by prolonged exposure of the spinal cord and nerves to the intrauterine environment and a suction gradient due to cerebrospinal fluid leakage, leading to progressive downward displacement of the hindbrain. This natural history can be reversed by prenatal repair. A randomised controlled trial demonstrated that mid-gestational maternal-fetal surgery for SBA decreases the need for ventriculoperitoneal shunting and hindbrain herniation at 12 months and improves neurological motor function at 30 months of age. This came at the price of maternal and fetal risks, the most relevant ones being increased prematurity and a persistent uterine corporeal scar. Recently minimally invasive fetal approaches have been introduced clinically yet they lack extensive experimental or clinical trials. We aim to provide clinicians with the essential information necessary to counsel SBA parents as the basis for considering referral of selected patients to expert fetal surgery centres. We review the reported clinical outcomes and discuss recent developments of potentially less invasive fetal SBA approaches.

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Sonographic detection of central nervous system defects in the first trimester of pregnancy

Cited by 54 publications

References 96 publications

Prenatally diagnosed developmental abnormalities of the central nervous system and genetic syndromes: A practical review

Prenatally diagnosed developmental abnormalities of the central nervous system and genetic syndromes: A practical review

Fetal surgery for open spina bifida

Fetal surgery for spina bifida aperta

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