Prenatal diagnosis of cobblestone lissencephaly associated with Walker–Warburg syndrome based on a specific sonographic pattern

Lacalm, Audrey; Nadaud, Béatrice; Massoud, Mona; Putoux, Audrey; Gaucherand, P.; Guibaud, Laurent

doi:10.1002/uog.15735

Cited by 34 publications

(28 citation statements)

References 8 publications

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“…Advances in ultrasonography may change this limitation, and two recent publications have suggested that improved diagnostic accuracy with ultrasound is possible. 11,12 Our present study lends support to that suggestion, as the 3/23 (13%) fetuses with lissencephaly did not have the diagnosis made on ultrasonography, although borderline ventriculomegaly was found in 1 case. The inability to detect (or raise the possibility of) lissencephaly on ultrasound, coupled with the rarity of the disorder (prevalence approximately 1 : 100000), makes it virtually impossible to perform a prospective study of diagnostic accuracy of antenatal imaging methods in de novo cases.…”

Section: Full Paper: Iumr For Lissencephaly Bjrsupporting

confidence: 86%

In utero MR imaging in fetuses at high risk of lissencephaly

Williams¹,

Griffiths

2017

BJR

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Objective: Lissencephaly is a rare disorder of cortical developmental, which usually carries increased risk of recurrence in future pregnancies. In this prospective observational study, we wished to test the hypothesis that sulcation patterns can be used to diagnose lissencephaly successfully on in utero MR (iuMR) imaging in the third-trimester but not in the late second-trimester fetus. Methods: Pregnant females were recruited into this study if they had an increased risk of fetal lissencephaly based on a fetus or child with lissencephaly in an earlier pregnancy. All females were offered serial iuMR examinations at one centre and are reported whether they had at least two examinations. The overall recurrence rate of lissencephaly was recorded along with the sulcation patterns of non-affected fetuses. Results: 19 females were recruited with 23 pregnancies. In 3/23 (13%) fetuses, lissencephaly was diagnosed on iuMR and not detected on ultrasonography. In two cases, the diagnosis of lissencephaly was made on second-trimester iuMR imaging-with certainty in one and described as "possible" in the other. Confident diagnoses of lissencephaly were made by 28-week gestation in all three cases. Four fetuses, ultimately shown not to have lissencephaly, were judged to have minor sulcation delay on secondtrimester imaging but became gestational age appropriate in the third trimester. Conclusion: iuMR imaging can identify fetal lissencephaly between 20 and 24 weeks, but false positives should be expected, particularly in the second trimester, and followup imaging later in pregnancy may be required. Advances in knowledge: It is possible to detect fetal lissencephaly between 20-and 24-week gestational age; but, it is considerably easier in the third trimester. As a result, if a fetus has an increased risk of lissencephaly on the basis of family history, it may be necessary to do serial iuMR studies to confirm normality (or abnormality) of the fetal brain.

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Section: Full Paper: Iumr For Lissencephaly Bjrsupporting

confidence: 86%

In utero MR imaging in fetuses at high risk of lissencephaly

Williams¹,

Griffiths

2017

BJR

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“…Recently, Lepais et al (2015) reported two siblings affected with ALG3-CDG presenting antenatally with short long bones, IUGR, and cerebellar vermis hypoplasia. Defects of protein O-mannosylation (POMT) are responsible for autosomal recessive Walker-Warburg syndrome (POMT1/ POMT2-CDG) and muscle-eye-brain disease (POMGNT1-CDG) (Wopereis et al 2006 ;Lacalm et al 2016). They are suspected by ultrasound findings and pathological examination, but their diagnosis relies on mutation analysis of the corresponding genes: POMT1, POMT2,andPOMGnT1.…”

Section: Congenital Disorders Of Glycosylationmentioning

confidence: 99%

Antenatal manifestations of inborn errors of metabolism: biological diagnosis

Vianey‐Saban

Acquaviva

Cheillan

et al. 2016

J of Inher Metab Disea

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Inborn errors of metabolism (IEMs) that present with abnormal imaging findings in the second half of pregnancy are mainly lysosomal storage disorders (LSDs), cholesterol synthesis disorders (CSDs), glycogen storage disorder type IV (GSD IV), peroxisomal disorders, mitochondrial fatty acid oxidation defects (FAODs), organic acidurias, aminoacidopathies, congenital disorders of glycosylation (CDGs), and transaldolase deficiency. Their biological investigation requires fetal material. The supernatant of amniotic fluid (AF) is useful for the analysis of mucopolysaccharides, oligosaccharides, sialic acid, lysosphingolipids and some enzyme activities for LSDs, 7- and 8-dehydrocholesterol, desmosterol and lathosterol for CSDs, acylcarnitines for FAODs, organic acids for organic acidurias, and polyols for transaldolase deficiency. Cultured AF or fetal cells allow the measurement of enzyme activities for most IEMs, whole-cell assays, or metabolite measurements. The cultured cells or tissue samples taken after fetal death can be used for metabolic profiling, enzyme activities, and DNA extraction. Fetal blood can also be helpful. The identification of vacuolated cells orients toward an LSD, and plasma is useful for diagnosing peroxisomal disorders, FAODs, CSDs, some LSDs, and possibly CDGs and aminoacidopathies. We investigated AF of 1700 pregnancies after exclusion of frequent etiologies of nonimmune hydrops fetalis and identified 108 fetuses affected with LSDs (6.3 %), 29 of them with mucopolysaccharidosis type VII (MPS VII), and six with GSD IV (0.3 %). In the AF of 873 pregnancies, investigated because of intrauterine growth restriction and/or abnormal genitalia, we diagnosed 32 fetuses affected with Smith-Lemli-Opitz syndrome (3.7 %).

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“…The formation of an extracortical agyric neuroglial layer occurs. It seems that the primary cause is the deficit of glycosylation of dystroglycans, resulting in neuroglial overmigration [44][45][46][47][48][49][50].…”

Section: Cortical Formation Abnormalitiesmentioning

confidence: 99%

Fetal Central Nervous System Abnormalities

Ceausescu¹,

Docea²,

Dinu³

et al. 2018

Congenital Anomalies - From the Embryo to the Neonate

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Central nervous system (CNS) is one of the most frequent sites for prenatal diagnosed congenital abnormalities (10 per 1000 live births, much higher than the heart-eight per 1000, kidneys-four per 1000, and other fetal systems). Due to the evolving pattern, ultrasound screening for fetal brain malformations is usually performed at 19-22 weeks' gestation, but severe congenital anomalies can be diagnosed much earlier. This chapter is a short review, structured in eight subchapters: the first one is dedicated to the normal ultrasound aspect of different CNS segments, and the following ones are to detect pathology in prenatal life. We used many ultrasound images and tried to correlate the prenatal findings with the ones obtained postpartum/postabortum for each case, by means of pathology/imaging techniques.anomalies of the central nervous system develop early, and nowadays, we have the tools to detect some conditions at 11-13 weeks [3][4][5][6][7][8] or even earlier. The first-trimester detection of CNS anomalies is probably the most important advance in modern sonoembriology. Later in pregnancy, neurosonography is a powerful tool in diagnosing CNS pathology.The following chapter is structured as follows: 1. Normal findings 2. Ventricular system (ventriculomegaly, aqueduct stenosis) 3. Neural tube defects (NTDs) (anencephaly, encephalocele, myelomeningocele) 4. Cortical formation abnormalities (schizencephaly, lissencephaly, heterotopia, microcephaly) 5. Midline abnormalities (holoprosencephaly, complete/partial agenesis of corpus callosum or abnormal corpus callosum, absent cavum septum) 6. Posterior fossa abnormalities (mega cisterna magna, Blake's pouch cyst, Dandy-Walker or variant cerebellar, vermian hypoplasia) 7. Vascular abnormalities (hemorrhage, hematoma, dural fistula, aneurysms) 8. Destructive lesions (hydranencephaly, tumors/mass lesions, cysts, periventricular leukomalacia, infections, dysplasias, other lesions). Normal findingsSome intracranial segments of CNS are seen on ultrasound extremely early in development, especially when using high-resolution probes and modern electronic tools. Although many features are indeed recognizable, the clinical utility of such studies is yet to be proven (Figures 1-3).In the late first trimester, current guidelines recommend checking for present cranial bones, for normal midline falx, and for the presence of choroid plexus and filled ventricles [9]. The most recommended planes for assessing the head anatomy are the axial ones. In terms of spine assessment, the guidelines state that "longitudinal and axial views should be obtained to show normal vertebral alignment and integrity, and an attempt should be made to show intact overlying skin" [9] (Figure 4).From the early second trimester onwards, the commendation is to obtain in standard assessment three standard axial planes (transventricular, transthalamic, and transcerebellar), and, if technically feasible, the fetal profile [10] (Figures 5 and 6).The measurements for fetal head biometry (the biparietal diameter-BPD ...

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Prenatal diagnosis of cobblestone lissencephaly associated with Walker–Warburg syndrome based on a specific sonographic pattern

Abstract: ABSTRACT

Cited by 34 publications

References 8 publications

In utero MR imaging in fetuses at high risk of lissencephaly

In utero MR imaging in fetuses at high risk of lissencephaly

Antenatal manifestations of inborn errors of metabolism: biological diagnosis

Fetal Central Nervous System Abnormalities

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