http://www.centrus.com.br/DiplomaFMF/SeriesFMF/18-23-weeks/algorytms/

TWIN PREGNANCY FETAL ANENCEPHALY DISCORDANT

FETAL OPEN SPINA BIFIDA

POSTERIOR FOSA ABNORMALITIES

AGENESIS OF CORPUS CALLOSSUM

CHOROID PLEXUS PAPILOMA

MEGALENCHEPHALY

ΔΙΑΤΑΣΗ ΠΛΑΓΙΩΝ ΚΟΙΛΙΩΝ ΕΓΚΕΦΑΛΟΥ

PORENCHEPHALY

SCHIZENCEPHALY

FETAL NEURO TYMORS

FETAL SPINE ABNORMALITIES CLASIFFICATION

TWIN PREGNANCY FETAL ANENCEPHALY DISCORDANT

PRENATAL DIAGNOSI
Prenat Diagn 2008; 28: 275–279.
Published online 27 February 2008 in Wiley InterScience
(www.interscience.wiley.com) DOI: 10.1002/pd.1967
REVIEW
Monochorionic and dichorionic twin pregnancies discordant
for fetal anencephaly: a systematic review of prenatal
management options
Annelies Lust2, Luc De Catte1, Liesbeth Lewi1, Jan Deprest1, Philippe Loquet2 and Roland Devlieger1*
1Fetal Medicine Unit, Department of Obstetrics and Gynecology, University Hospital Gasthuisberg, 3000 Leuven, Belgium Prenatal Diagnosis Unit, Department of Obstetrics, Gynaecology and Reproductive Medicine, AZ Sint-Augustinus, 2610 Wilrijk,
SELECTIVE FETOCIDE  should be offered as soon as possible in pregnancy. Moreover,
SF increases the chance of giving birth vaginally and
will possibly reduce the parental psychological trauma.
The main draw-back of feticide is the risk for miscarriage
of the whole pregnancy. This risk is related mainly
to the technique, the GA and the experience of the operator.
Even in the most experienced hands SF results in
miscarriage in 3–16% (Evans et al., 1994, 2004; Eddleman
et al., 2002). After 16 weeks of pregnancy, the risk
of pregnancy-loss following feticide rises proportionately
with duration of pregnancy (Evans et al., 1994).
We conclude that while SF does not reduce perinatal mortality, it does result in significantly longer gestations
and higher birth weight, and appears to be the management of choice in dichorionic twins discordant for
anencephaly. In monochorionic twins, SF also increases birth weight, but in view of the complexity of this
group, no clear recommendations can be made.
In monochorionic twins, the specific placentation with
the multiple vascular connections between both twinpairs
demands a different treatment strategy. Intrauterine
death (IUD) of the anencephalic fetus increases the risk
of IUD or severe brain damage of the normal co-twin
because of possible exsanguination (Fusi and Gordon,
1990; Evans et al., 1994; Robyr et al., 2005; Rustico
et al., 2005). Hence, SF seems to be preferred to avoid
this major risk of spontaneous IUD when following
conservative management. However, in monochorionic
twins SF should be performed by laser or bipolar cord
coagulation, which is technically more complicated than
intracardiac injection of KCL or lidoca¨ın (Evans et al.,
1994, 2004; Rustico et al., 2005). Moreover, it can only
be effected from 15–16 weeks of pregnancy. (Evans
et al., 1994; Deprest et al., 2000; Lewi et al., 2003;
Robyr et al., 2005; Rustico et al., 2005; Lewi et al.,
2006; Lopoo et al., 2000).
Our results also suggest that in this group, SF seems
to be favored as there is a significantly higher mean birth
weight compared to expectant management. In addition
there is a tendency toward a longer gestation and a
lower incidence of premature deliveries and cesarean
sections. Survival is approximately the same for both
groups. However, the complexity of monochorionic twin
pregnancies and the relatively small numbers reported
make it very hard to draw any clear conclusions in this
group.

FETAL OPEN SPINA BIFIDA

Current controversies in prenatal diagnosis: fetal surgery after MOMS: is fetal therapy better than neonatal?†
MOMS trial, we had performed 61 open fetal myelomeningocele (MMC) repairs. To be a candidate for treatment, the fetus must be 20–26 weeks of gestation, have anormal karyotype, have no other anomalies that might affect
long-term outcome, ventriculomegaly <17mm, severe Chiari
II malformation, and intact leg movement without talipes.
Independent
ambulation was found in 66% of fMMC children compared
with 32% in pMMC. In all of the 58 survivors, there was reversal
of hindbrain herniation, reestablishment of the fourth ventricle
in all infants, and the need for VP shunt in 45.8% of fMMC
compared with 74.2% of pMMC children. Mean age of shunt
for fMMC placement was 160 days compared with 10 days in
pMMC children, which may have promoted the normal rapid
brain growth and development that occurs in early infancy. A
total of 14% of children with spina bifida die in the first 5 years
of life; 73% of deaths are due to complications of hindbrain
herniation. Reversal of hindbrain herniation following fetal
repair should reduce or eliminate Chiari II related to morbidity
and mortality.4
In December 2010, the Data Safety Monitoring Board of the
National Institutes of Health-sponsored MOMS stopped
enrollment because of efficacy of fetal surgery. This randomized
controlled study compared fetal surgery with postnatal surgery
for spina bifida. Primary outcomes were defined as (1) death or
need for ventricular decompressive shunting by 1 year of age
and (2) a composite outcome score of two measures at
30months corrected age (Baily Psychomotor Developmental
Index and functional difference between motor level and spinal
lesion level). In 183 randomized patients, they found significant
differences in shunt rates (40% in fetal vs 82% in postnatal),
differences between motor function and anatomic level (32% of
fetal vs 12% postnatal children with≥two spinal levels better),
higher rates of independent ambulation without orthotics (42%
fetal vs 21% postnatal), and higher Bailey Psychomotor
Development Index scores (64.0 vs 58.3).6
Summary

Fetal therapy in fetuses with spina bifida:
1. Prevents further traumatic and toxic injury to the exposed
spinal cord and improves neuromotor function and
independent ambulation rates.
2. Reduces the need for VP shunting and shunt-related
morbidity.
3. Reduces Chiari II malformation related to morbidity and
mortality because of reversal of hindbrain herniation.
4. Decreases progressive ventriculomegaly, and the need for
shunting improves cognitive and neurodevelopmental
outcomes.
 Important issues for the near future are further development
of technique and surgical procedures, including endoscopy, to
reduce morbidity/complications and to further improve
outcome. Future studies should focus even more specifically
on which fetuses are most likely to benefit, on maternal
outcome, and outcome of subsequent pregnancies. The
approach of fetal MMC repair, from pioneering to basic
science to clinical randomized trials, should be an example
for all who are introducing and developing fetal surgical
interventions. All fetal surgical interventions that involve low
volume and highly complex care should be restricted to
dedicated centers with strict regulations and a high level of
quality control. We owe that to our patients.

MIDLINE ANOMALIES

 

 

 

 

 

 

 

 

 POSTERIOR FOSA ABNORMALITIES

Ultrasound features posterior fosa abnormalities characteristics

Upward rotation of an intact vermis with normal torcular -Blake's pouch cyst

Cisterna magna depth > 10 mm with intact and normally positioned cerebellum -Megacisterna magna

Hypoplastic vermis with normal torcular -Vermian hypoplasia

Upward rotation of the vermis (normal or hypoplastic) with elevated torcular -Dandy-Walker malformation

Large cisterna magna with small cerebellum -Cerebellar hypoplasia

Cyst with a mass effect resulting in distortion of the cerebellum -Posterior fossa arachnoid cyst

Prognosis:-
Ultrasound Obstet Gynecol. 2012 Jun;39(6):625-31. doi: 10.1002/uog.11071. Epub 2012 May 14.

Prenatal diagnosis and outcome of fetal posterior fossa fluid collections.

Gandolfi Colleoni G, Contro E, Carletti A, Ghi T, Campobasso G, Rembouskos G, Volpe G, Pilu G, Volpe P.

Blake's pouch cysts and megacisterna magna underwent spontaneous resolution in utero in one third of cases and over 90% of survivors without associated anomalies had normal developmental outcome at 1-5 years. Isolated Dandy-Walker malformation and vermian hypoplasia were associated with normal developmental outcome in only 50% of cases.

It must be remembered that what appears initially as BPC or MCM may manifest as full blown DVM later on in pregnancy.

  

Table 2—Imaging findings in patients with congenital cerebellar malformations

 

Diag       TCD    Vermis  Sup/Inf ratio Fastigium  4th ventri Pons       Prognosis

 

Delayclosure’ N      N              N              N                Open    N              Good

 

Vermian hypo N    Small         N               N         Open/closed   N      Variable

 

Vermian agenesis N/S Small  Abn          Abn           Abn   N    Malformations?

 

DWM     N     —/Small       Abn            Abn              Abn            N        Poor

 

MTRS   N/S    —/Small         Abn       Abn               Abn         ?         Poor

 

Ponto hypo S       Small         N           N               N            Abn         Poor

 

Rhombencephalosynapsis S — —     Abn            Abn           N           Poor

TCD, Transverse cerebellar diameter; Sup/Inf, ratio between the superior and inferior portions of the vermis; N, normal; S, small; Abn, abnormal;Malformations?, d

  

1. when all the measurements are according to the norms for gestational age, two vermian fissures are visualized with a ratio of 1 : 2 between the superior and inferior part, and a normal pons is seen but there is a communication between the fourth ventricle and the cisterna magna, delayed closure of the vermis should be diagnosed and a good prognosis is expected;

2. cerebellar pathologies may be associated with chromosomal aberrations (Ecker et al, 200) and represent an indication for amniocentesis;

3. when the vermis or part of it is small but all lobules are present and there are no other associated anomalies, vermian hypoplasia should be diagnosed. The prognosis is not yet clear since it can be a dominant benign trait or part of a genetic syndrome. Posterior vermian hypoplasia has been described in fragile X (Guerreiro et al., 1998; Mostofsky et al., 1998), so in these cases we recommend testing the mother;

4. when the vermis or its inferior part is missing, vermian or partial vermian agenesis should be diagnosedand the prognosis depends on the existence of associated malformations

5. when vermian agenesis is associated with enlarged cisterna magna, cystic dilatation of the fourth ventricle and elevation of the tentorium, DWM should be diagnosed and the prognosis is usually poor but when there are no other anomalies and the vermis is actually hypoplastic, the prognosis may be better (Klein

et al., 2003);

6. when the fourth ventricle is enlarged with an abnormal fastigium, and the vermis is not clearly observed in the coronal plane, molar tooth features should be searched in the axial plane, including the interpeduncular fossa, cerebellar peduncles and brain stem in order to diagnose molar tooth related syndromes which are usually associated with mental retardation;

 

vermian agenesis./joubert syndrome/neonatal characteristics

 

MOLAR TOOTH RELATED SYNDROMES

Joubert syndrome and related disorders (JSRD)

JSRD encompasses classic JBTS as described above as well as conditions with other features such as central nervous system anomalies (including occipital encephalocele, corpus callosal agenesis), ocular coloboma, retinal dystrophy, renal disease (including cystic dysplasia or nephronophthisis, NPHP), and hepatic fibrosis. When the ocular and renal systems are involved, the syndromes are sometimes described as cerebello-oculo-renal syndromes (CORS) [Valente et al., 2008; Valente et al., 2003]. An association between kidney disease and retinal involvement has been observed, with the specific findings of NPHP plus retinal dystrophy known as Senior-Løken syndrome [Gleeson et al., 2004; King et al., 1984; Saraiva and Baraitser, 1992; Satran et al., 1999]. One JSRD is the condition known by the acronym COACH syndrome (Coloboma, Oligophrenia/developmental delay, Ataxia, Cerebellar vermis hypoplasia, Hepatic fibrosis) [Satran et al., 1999; Verloes and Lambotte, 1989], which has more recently been described as requiring the MTS with evidence of liver disease, specifically congenital hepatic fibrosis [Doherty et al., 2009]. Liver involvement, when coupled with renal cystic disease, has prompted inclusion of JSRD as a congenital hepatorenal fibrocystic disease [Adams et al., 2008; Johnson et al., 2003].

For couples who have had a prior affected child, there are several options for prenatal diagnosis in subsequent pregnancies. If the disease-causing mutations have been identified, prenatal diagnosis by DNA testing is feasible. For other at-risk pregnancies, prenatal imaging via ultrasound and/or fetal MRI is the best and most practical diagnostic option. Extracranial anomalies such as polydactyly or renal cysts and major structural brain malformations such as encephalocele may faciltate prenatal diagnosis of JSRD as early as the first trimester when a prior history is present [Wang et al., 1999] or may suggest the diagnosis in absence of a prior history. Early diagnosis is more difficult when extracranial findings are not present, because CVH cannot be reliably diagnosed until 18–20 weeks gestation [Bromley et al., 1994], and the MTS has not been reported prior to 27 weeks gestation [Fluss et al., 2006]. In the absence of a family history, prenatal diagnosis is possible but challenging given the spectrum of outcomes for isolated prenatal CVH [Phillips et al., 2006]. An imaging protocol for prenatal diagnosis has been proposed, although its sensitivity and specificity for JSRD have not been systematically evaluated [Doherty et al., 2005].

 Isolated vermian agenesis may be extremely difficult to diagnose even when there is a family history (Figure 5). Anomalies usually associated with vermian agenesis, such as occipital encephalocele, cystic kidneys or polydactyly should direct the ultrasonographer to a thorough examination of the vermis and may enable the correct diagnosis. In cases of suspected isolated vermian agenesis without a clear communication between the fourth ventricle and the cisterna magna, we recommend to search for indirect signs that may help in the diagnosis. An effort should be made to visualize the vermis in true orthogonal planes. In the axial plane, a smaller than expected transverse cerebellar diameter may be the first clue in the diagnosis of rhombencephalosynapsis, a rare congenital condition characterized by partial or total agenesis of the vermis with fusion of the cerebellar hemispheres; in these patients, the folia is usually continuous between the hemispheres. Another clue is that the cerebellar hemispheres do not protrude into the cisterna magna and appear continuous in the axial plane (Figure 3). The midsagittal plane enables visualization of the vermis, fourth ventricle, pons, medulla and cisterna magna and the relationship between them. In this plane, the vermis may be extremely difficult to differentiate from an impinging cerebellum, but in these cases the shape of the fourth ventricle should be abnormal (Figure 4) and the vermian fissures difficult to visualize. The operator should look for other possible clues including the presence of a thin pons and medulla as seen in pontocerebellar hypoplasia.  http://www.neurology.org/content/70/7/556/F1.expansion.html

7. when vermis hypoplasia is associated with a small transverse cerebellar diameter (TCD) and the bulge of the pons is missing, pontocerebellar hypoplasia should be diagnosed and the prognosis is universally grim;

8. when the vermis is not present, the TCD is small and the cerebellar folia are continuous from one hemisphere to the other, rhombencephalosynapsis should be diagnosed and the prognosis is reserved in the majority of the cases.

 

Προσοχη στο ποτε θα χαρακτηριζουμε οτι ο Σκωλικας της παρεγκεφαλιδας δεν εχει σχηματιστει ,Φαινεται οτι το οριο των 18 εβδομαδων που λεγαμε καποτε δεν ισχυει

 

 The current understanding of cerebellar formation seems to support the theory that the cerebellar vermis should finish its development at around 18 weeks, but this gestational landmark has never been fully proven.We have observed similar cases in fetuses with an otherwise normal anatomy and found after repeated examinations that in most of the cases the ‘communication’ between the fourth ventricle and the cisterna magna disappears as the vermis enlarges (Figure 2). This may either be the result of normal variations in the νdevelopment of the cerebellum; or increased pressure produced by the developing vermis may cause invagination and dehiscence of a Blake’s pouch cyst; or as postulated by Robinson and Goldstein (2007), the lateclosure of the fourth ventricle may be caused by a late fenestration of Blake’s pouch. In some cases, the vermis does not ‘close’ in utero and even though it is morphologically normal, an erroneous diagnosis of inferior vermis hypoplasia may be made. This observation may explain the finding by Limperopoulos et al. (2006) that in 32% of fetuses diagnosed with inferiorvermian hypoplasia in utero, the postnatal MRI was normal. Presently, we believe that the diagnosis of the different forms of vermian hypoplasia should not be performed before 24 weeks of gestation. By this time, the neurosonographic examination of the vermis should enable accurate measurements of the vermian diameters and surface in the midsagittal plane and demonstration of a normal sized fourth ventricle with a triangular shape in midsagittal planes and the primary and sometimes also the secondary fissure originating from the fastigium. In cases in which the vermis remains open and there are no associated malformations, one should be extremely cautious in making the diagnosis of inferior vermis hypoplasia and the vermis should be measured and compared to norms (Malinger et al., 2001)
 

 BLAKE'S  POUCH CYST

Upward rotation of an intact vermis with normal torcular -Blake's pouch cyst

rotation of vermis (4) with normal size

Ultrasound Obstet Gynecol. 2012 Mar;39(3):279-87. doi: 10.1002/uog.10138

Abnormal or delayed development of the posterior membranous area of the brain: anatomy, ultrasound diagnosis, natural history and outcome of Blake's pouch cyst in the fetus

Paladini D, Quarantelli M, Pastore G, Sorrentino M, Sglavo G, Nappi C.

Based on our analysis of ultrasound features, we propose that for BPC to be diagnosed in a fetus the following three criteria should be fulfilled: 1) normal anatomy and size of the vermis; 2) mild/moderate anti-clockwise rotation of the vermis; 3) normal size of the cisterna magna. Furthermore, we found that BPC can undergo delayed fenestration at 24-26 weeks in more than 50% of cases. Finally, it seems that BPC shows a risk of association with extracardiac anomalies (heart defects in particular) and, to a lesser extent, trisomy 21.

DANDY WALKER MALFORMATION

Prenat Diagn. 2012 Feb;32(2):185-93. doi: 10.1002/pd.3828.

Prenatal diagnosis of 'isolated' Dandy-Walker malformation: imaging findings and prenatal counselling.

Guibaud L, Larroque A, Ville D, Sanlaville D, Till M, Gaucherand P, Pracros JP, des Portes V.

Université Claude Bernard Lyon I, Lyon, France. Αυτή η διεύθυνση ηλεκτρονικού ταχυδρομείου προστατεύεται από τους αυτοματισμούς αποστολέων ανεπιθύμητων μηνυμάτων. Χρειάζεται να ενεργοποιήσετε τη JavaScript για να μπορέσετε να τη δείτε.

When fetal MRI is necessary to exclude additional cerebral lesions in the diagnosis of DWM, we highlight the inaccuracy of magnetic resonance for anatomical analysis of the vermis. We also emphasise the potential high incidence of subtelomeric anomalies in isolated DWM, especially 6p deletion. In the postnatal period, paediatricians should look for postnatal hydrocephalus even if the ventricular size is normal or slightly dilated on prenatal imaging.

Ultrasound Obstet Gynecol. 2012 Jun;39(6):625-31. doi: 10.1002/uog.11071. Epub 2012 May 14.

Prenatal diagnosis and outcome of fetal posterior fossa fluid collections.

Gandolfi Colleoni G, Contro E, Carletti A, Ghi T, Campobasso G, Rembouskos G, Volpe G, Pilu G, Volpe P.

Prenatal neurosonography and MRI are similarly accurate in the categorization of posterior fossa fluid collections from mid gestation. Blake's pouch cyst and megacisterna magna are risk factors for associated anomalies but when isolated have an excellent prognosis, with a high probability of intrauterine resolution and normal intellectual development in almost all cases. Conversely, Dandy-Walker malformation and vermian hypoplasia, even when they appear isolated antenatally, are associated with an abnormal outcome in half of cases.

PARTIAL VERMIAN AGENESIS

Hypoplastic vermis with normal torcular -Vermian hypoplasia  

REFPRENATAL DIAGNOSIS

 

Prenat Diagn (2009)

 

Published online in Wiley InterScience

 

(www.interscience.wiley.com) DOI: 10.1002/pd.2196

 

REVIEW

 

The fetal cerebellum. Pitfalls in diagnosis and management

 

Gustavo Malinger*, Dorit Lev and Tally Lerman-Sagie

 

We suggest that the definition of inferior vermis hypoplasia should not be made based only on morphological criteria, but should be supplemented by abnormal vermian biometry. This concept is reinforced by the fact that also in children and adults, isolated inferior vermian hypoplasia is not considered, by some authors, to represent an abnormal condition

 

(Patel and Barkovich, 2002).

 

Therefore, the term inferior vermis hypoplasia used by Limperopoulos et al. (2006, 2008) should actually be inferior vermis agenesis. When a suspicion of an abnormal vermis is raised, it is crucial to be familiar with and to attempt to differentiate between the different entities that may be associated with this anomaly: DWM, vermian hypoplasia, vermian agenesis and vermian agenesis with associated brainstem malformations (MTRS and cobblestone lissencephaly). Using the multiplanar approach previously described), it is possible in most, but not in all, cases to differentiate between the entities (Table 2)

 AGENESIS OF CORPUS CALLOSUM

Counseling in fetal medicine: agenesis of the corpus callosumUltrasound Obstet Gynecol 2012; 40: 513–521

 

The overall rate of chromosomal abnormality in fetuses with ACC is 18%, but this high rate includes both isolated and complex ACC; more recent studies suggest that chromosomal abnormalities are rare in isolated cases. Nevertheless, postnatal followup studies suggest that about 15% of cases thought to be isolated prenatally were found to have  abnormalities after birth. Neurodevelopmental outcome in isolated ACC was recently reported in a systematic review and suggested normal outcome in about 65–75% associatedof cases. Findings need to be considered in light of the several limitations of existing studies, in terms of study design, selection bias, varying definitions and imaging protocols, ascertainment bias and lack of control groups.These uncertainties mean that antenatal counseling is difficult and further large prospective studies are needed. Copyright  2012 ISUOG. Published by John Wiley & Sons, Ltd.

 

ΠΡΟΣΟΧΗ

 

1) ΕΑΝΥΠΑΡΧΟΥΝ INTERHEMISPHERIC CYSTS

 

(ARACHNOID/ LIPOMAS) TOTE  ΗΣΥΜΒΟΥΛΕΥΤΙΚΗ

 

ΓΙΝΕΤΑΙ ΩΣ ΕΠΙ  ACC  ΚΑΙ ΟΧΙ ΑΝΑΦΩΡΙΚΑ ΜΕ ΤΗΝ ΚΥΣΤΗ

 

2) INTERHEMISPHERIC CYST  ΣΕ ΘΥΛΗ ΕΜΒΡΥΟ

 

ΕΙΝΑΙ HIGH SUGGESTIVE  OF AICARDI SYNDROME

 

 J Autism Dev Disord. 2012 Oct 5. [Epub ahead of print]Autism Traits in Individuals with Agenesis of the Corpus Callosum. Autism spectrum disorders (ASD) have numerous etiologies, including structural brain malformations such as agenesis of the corpus callosum (AgCC). We sought to directly measure the occurrence of autism traits in a cohort of individuals with AgCC and to investigate the neural underpinnings of this association. We screened a large AgCC cohort (n = 106) with the Autism Spectrum Quotient (AQ) and found that 45 % of children, 35 % of adolescents, and 18 % of adults exceeded the predetermined autism-screening cut-off. Interestingly, performance on the AQ’s imagination domain was inversely correlated with magnetoencephalography measures of resting-state functional connectivity in the right superior temporal gyrus. Individuals with AgCC should be screened for ASD and disorders of the corpus callosum should be considered n autism diagnostic evaluations as well.

Prog Brain Res. 2011;189:303-17. doi: 10.1016/B978-0-444-53884-0.00031-2.

Connectivity and the corpus callosum in autism spectrum conditions: insights from comparison of autism and callosal agenesis.

 

 

G PILU  FETAL NEURO EXPERT

http://www.unibo.it/docenti/gianluigi.pilu

Αυτή η διεύθυνση ηλεκτρονικού ταχυδρομείου προστατεύεται από τους αυτοματισμούς αποστολέων ανεπιθύμητων μηνυμάτων. Χρειάζεται να ενεργοποιήσετε τη JavaScript για να μπορέσετε να τη δείτε.

 

 CHOROID PLEXUS PAPILOMA

 

The choroid plexus papilloma grows slowly within the ventricles. It eventually blocks the flow of cerebrospinal fluid, causing hydrocephalus (an abnormal increase of cerebrospinal fluid in the intracranial cavity). Headache and other symptoms of increased pressure are common. The choroid plexus carcinomas commonly grow into nearby tissue and spread widely via the cerebrospinal fluid. Hydrocephalus is often present.

Treatment Strategies

 For choroid plexus papillomas, surgery may be the only treatment required if the tumor is completely removed. Tumor removal relieves the hydrocephalus about half the time. A shunt is required for other patients. The role of radiation or chemotherapy is still being investigated, but might be recommended for inaccessible or partially resected tumors.

 

MEGALENCEPHALY

This is usually familiar with no adverse consequence. However, it may also be the consequence of genetic syndromes, such as Beckwith-Wiedemann syndrome, Sotos syndrome achondroplasia, neurofibromatosis, and tuberous sclerosis. Unilateral megalencephaly is a sporadic condition.Prognosis:

Isolated megalencephaly is usually an asymptomatic condition. Unilateral megalencephaly is associated with severe mental retardation and untreatable seizures.

 

Hemimegalencephaly (HME; also termed unilateral megalencephaly) is a relatively rare but clinically impressive malformation of cortical development characterized by marked cerebral asymmetry (Friede, 1989). Originally described by Sims (Sims, 1835), HME can occur in isolation or in association with neurocutaneous syndromes or developmental disorders such as Klippel–Trenaunay syndrome, Ito's hypomelanosis, neurofibromatosis and tuberous sclerosis complex (Vigevano et al., 1996). Non-syndromic HME occurs in multiple ethnic groups without a gender preference and the clinical presentation typically consists of early onset epilepsy, psychomotor retardation and contralateral hemiparesis and hemianopia (Flores-Sarnat, 2002). The aetiology of HME is unknown, although it is presumed to be from abnormalities of neuroglial differentiation and cell migration involving a single hemisphere (De Rosa et al., 1992; Vinters et al., 1992; Arai et al., 1999; Hoffmann et al., 2000).

This is usually familiar with no adverse consequence. However, it may also be the consequence of genetic syndromes, such as Beckwith-Wiedemann syndrome, Sotos syndrome achondroplasia, neurofibromatosis, and tuberous sclerosis. Unilateral megalencephaly is a sporadic condition.Prognosis:

Isolated megalencephaly is usually an asymptomatic condition. Unilateral megalencephaly is associated with severe mental retardation and untreatable seizures.

 

 ΔΙΑΤΑΣΗ ΠΛΑΓΙΩΝ ΚΟΙΛΙΩΝ ΕΓΚΕΦΑΛΟΥ

 

ΣΕ ΚΑΘΕ ΠΕΡΙΣΤΑΤΙΚΟ > 10 ΧΙΛ ΤΟ ΠΑΧΟΣ ΣΤΟ  ATRIUMΣΤΗΝ ΟΠΙΣΘΙΑ Ή ΠΡΟΣΘΙΑ ΠΛΑΓΙΑ ΚΟΙΛΙΑ ΣΥΣΤΙΝΟΥΜΕ

 

 

 

1) ΚΑΡΥΟΤΥΠΟ ΕΜΒΡΥΟΥ ΔΙΕΥΡΥΜΕΝΟ

2) TORCH

3 ANTIPLATELETS  ANTIBODIES ( againstplateletantigenHPA-1a (formerlycalledPLA-1)/ TheHPA-5bantigen (formerlytheBrantigen  ΓΙΑ ΕΛΕΓΧΟ alloimmunethrombocytopenia)

 

Neuropsychological outcome of children withasymmetric ventricles or unilateral mildventriculomegaly identified in utero

S Sadan,a G Malinger,b A Schweiger,a D Lev,b T Lerman-Sagieb

 The Academic College of Tel-Aviv-Yafo, Tel-Aviv, Israel b Fetal Neurology Clinic, Department of Obstetrics and Gynecology,Wolfson Medical Center, Holon, Israel Correspondence: Prof T Lerman-Sagie, Wolfson Medical Center, PO Box 5, Holon 58900, Israel. Email Αυτή η διεύθυνση ηλεκτρονικού ταχυδρομείου προστατεύεται από τους αυτοματισμούς αποστολέων ανεπιθύμητων μηνυμάτων. Χρειάζεται να ενεργοποιήσετε τη JavaScript για να μπορέσετε να τη δείτε.

Asymmetric lateral ventricles were defined as a difference of ventricular width greater than 2 mm, with width at the atrium <10 mm. Unilateral ventriculomegaly was defined as only one ventricle measuring > 10 mm.

Our results in children who had fetal asymmetric ventriculomegaly show that 20% of children have a significant developmental delay and another 20% of children have transient developmental abnormalities.Although children with asymmetric ventricles displayed normal results on the motor and mental scales, they differed significantly from the control group on the behavioural scale.

 

J Matern Fetal Neonatal Med. 2005 Nov;18(5):289-98.

Perinatal and neurodevelopmental outcome with isolated fetal ventriculomegaly: a systematic review. (unilateral or bilateral enlargement of the lateral ventricle, >or=10 mm, with no additional diagnosis at the time of the initial ultrasound

Laskin MD, Kingdom J, Toi A, Chitayat D, Ohlsson A.

In 137 cases followed to at least 20 months of age, 79% had normal neurodevelopment, 10% were mildly delayed and 11% had moderate/severe developmental delays.

 

Prenat Diagn. 2007 Feb;27(2):124-9

Obstetric and neonatal outcomes in severe fetal ventriculomegaly. (posterior horn of lateral ventricle > 15 mm

Breeze AC, Alexander PM, Murdoch EM, Missfelder-Lobos HH, Hackett GA, Lees CC.

In those live born, there was abnormal outcome in all but one.

Hydranencephaly is usually incompatible with survival beyond early infancy.

 

Neuropsychological outcome of children with

asymmetric ventricles or unilateral mild

ventriculomegaly identified in utero

 

S Sadan,a G Malinger,b A Schweiger,a D Lev,b T Lerman-Sagieb

 

In this study, we evaluated the outcome of two common anomalies concerning ventricular size: asymmetric ventricles defined as a difference of the ventricular width at the atrium greater than 2 mm, but the larger ventricular width remains lesser than 10 mm,1,2 and unilateral ventriculomegaly or asymmetric ventriculomegaly is diagnosed when there is asymmetry between the ventricles and one of them is enlarged above 10 mm at the atrium.3 Mild ventriculomegaly is defined as an atrial width of the lateral ventricle between 10 and 15 mm.

Our study demonstrated that children with an enlarged left ventricle performed significantly lower on the mental scale compared with those with an enlarged right ventricle. This subtest assesses functions such as memory, learning and problem solving and verbal communication skills. An enlargement of the left ventricle may reflect left hemisphere dysfunction resulting in deficits in these specific areas. Our results in children who had fetal asymmetric ventriculomegaly show that 20% of children have a significant developmental delay and another 20% of children have transient developmental abnormalities. These results may have an enormous impact on parents receiving prenatal counselling and in countries where termination of pregnancy is permitted, and it may cause an increase in these requests.

Therefore, it is important to perform neuropsychological studies on a larger group of children and also at school age to confirm the results of our study. Our results should be taken with caution, as there was a small cell number of each subgroup.

Although children with asymmetric ventricles displayed normal results on the motor and mental scales, they differed significantly from the control group on the behavioural scale. Low scores on the orientation/engagement subtest indicate inappropriate and nonadaptive behaviour towards people and objects in the environment. Low scores on the emotional regulation subtest indicate lack of persistence in task behaviour, as well as occasional poor transitions between tasks.17

These findings may suggest the possibility of future developmental deficits, such as learning disabilities, communication disorders and attention deficits, as these are not usually diagnosed in young children. Although the behaviour evaluation is an essential part of the whole assessment procedure, the results of the behaviour scale should be interpreted with some caution and not as an isolated outcome, as the score is based on the examiner’s observations and not on a performance score; the lack of blinding of the examiner could have influenced the score.

 

PORENCEPHALY

The prognosis in porencephaly is related to the size and location of the lesion and although there is increased risk of impaired neurodevelopment in some cases development is normal. Schizencephaly is associated with severe neurodevelopmental delay and seizures.

 

SCHIZENCEPHALY

 

Prenatal diagnosis of schizencephaly with septo-optic dysplasia by ultrasound and magnetic resonance imaging.

Hung JH, Shen SH, Guo WY, Chen CY, Chao KC, Yang MJ, Hung CY. J Obstet Gynaecol Res. 2008 Aug; 34(4 Pt 2):674-9.

 FETAL TUMORS

Termination of pregnancy for fetal tumors

I. Meizner*Ultrasound in Obstetrics & Gynecology

Volume 22, Issue S1, pages 27–28, 2003

 

MEIZNER ISRAEL FETAL TUMORS EXPERT

Department:
FACULTY OF MEDICINE
Tel Aviv University, Ramat Aviv, Israel
Tel: (972)-3-6407551
(972)-3-9377575
Fax: (972)-3-6357984
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