Consultant Pediatric Neurologist Ankura Hospital for women and children, Hyderabad DNB ... ·...

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Consultant Pediatric Neurologist

Ankura Hospital for women and children,

Hyderabad

DNB,MD-Pediatrics, DM-Pediatric Neurology

(PGIMER Chandigarh)

Areas Of Interest-Pediatric sleep medicine

Neuromuscular disorders Dr. Razia Adam

COUNSELLING IN ANTENATAL

VENTRICULOMEGALY

Dr.Razia Adam Kadwa

MD-Ped, DM-Pediatric Neurology (PGIMER Chandigarh)

Consultant Pediatric Neurologist

Antenatal ventriculomegaly-Problem Status

Ventriculomegaly is one of the most frequently diagnosed abnormalities of the fetal central nervous system

The incidence of ventriculomegaly is 0.3 to 2.0 per 1000 pregnancies

The incidence of isolated mild and moderate ventriculomegaly is 0.7%

Isolated severe ventriculomegaly is between 0.03 and 0.15%

Patel, S.K., Zamorano-Fernandez, J., Nagaraj, U. etal

Child's Nervous System(2019).

Antenatal ventriculomegaly

ventriculomegaly

Normal survival

Normal Vaginal delivery

Normal neurodevelopment

Severe

ventriculomegaly

Inutero death

Reduced survival

Severe disability

Counselling- Risk estimate

Mild, Moderate or severe ventriculomegaly ?

Isolated Ventriculomegaly or Non isolated ventriculomegaly ?

Progressive or non-progressive ?

Etiology?

Surgical intervention ?

Follow up scan

Etiological workup

?Fetal MRI

Risk estimate

Isolated Ventriculomegaly or Non isolated

ventriculomegaly ?

Etiology?

Follow up scan

Etiological workup

?Fetal MRI

Ventriculomegaly(VM)

Ventriculomegaly- atrial width of the lateral ventricle ―mild‖ (10–12 mm)

―moderate‖ (12.1–15 mm)

―severe‖≥ 15 mm

―Isolated Ventriculomegaly‖ (IVM) if no associated anomaly is detected

―Non-Isolated Ventriculomegaly‖ (NIVM) -Ventriculomegaly with other structural abnormalities (CNS /extra CNS) or

positive findings in TORCH screenings or

positive findings in karyotype examinations.

Ginekologia Polska 2019, vol. 90, no. 3, 148–153

Non Isolated VM

Once VM is diagnosed prenatally, associated CNS defects should be excluded.

Associated anomalies (CNS & Extra CNS) > 60% in severe VM

10-50% in moderate VM

Small percentage in mild VM

The most common associated CNS defects are agenesis of the corpus callosum (ACC) and spina bifida.

Associated CNS anomalies neural tube defects

posterior fossa malformations

genetic syndromesGinekologia Polska 2019, vol. 90, no. 3, 148–153

WHAT NEXT?

When to perform follow up scan?

Is fetal MRI warranted?

Effect on live birth/mode of delivery

Long term outcome

Next pregnancy

Role of Fetal MRI

MRI vs Ultrasound

Fetal MRI has a limited role over ultrasound in assessing the size of the cerebral ventricles.

Fetal MRI can detect additional abnormalities in 12.5%-19.5% of fetuses with a ventricular diameter of 10-12 mm.

Particular advantage of fetal brain MRI is that it allows analysis of gyration.

Rev Bras Ginecol Obstet 2016.

Lancet. 2017.

Ultrasound Obstet Gynecol. 2014

Eur J Pediatr Neurol.2018 Nov

Ginekologia Polska 2019.

Fetal MRI

Magnetic Resonance Imaging- detects

hemorrhagic foci

porencephaly

cortical and subependymal tubers

midline anomalies and callosal dysgenesis

posterior fossa abnormalities

The clinical limitations of the MRI are

elevated costs

availability

decreased sensitivity at a gestational age < 25 weeks

Rev Bras Ginecol Obstet 2016.

Patel, S.K., Zamorano-Fernandez, J., Nagaraj, U. et al.

Child's Nervous System(2019).

Risk estimate

Etiology?

Follow up scan

Etiological workup

?Fetal MRI

FOLLOW UP SCAN (PRENATAL)

A follow-up brain scan between 28 and 34 wks of gestation indicated in all cases.

Progression of VM -defined as an increase in the ventricular measurement of more than 3 mm

Risk of progression is of approx 16%

Follow-up ultrasounds detect fetal abnormalities not detected on the initial scan in 13 % of cases

Melchiorre K,et al. Ultrasound Obstet Gynecol. 2009;34(2):212.

Counseling in isolated mild fetal ventriculomegaly.

Rev Bras Ginecol Obstet 2016;38:436–442.

There is no agreement regarding the timing &

frequency of follow‐up in fetuses with VM

Progression of VM

VM progression -16% of cases

Stabilisation - 43% of cases

In utero normalisation - 41% of cases

PEDIATRIC RADIOLOGY 2012

Evolution of ventriculomegaly: comparison between foetal MR

imaging and postnatal diagnostic imaging

Chromosomal

anomalies

Negative

Prognosis

Progressive VM 22% 44%

Static/ regress 1% 7%

Risk estimate

Etiology?

Follow up scan

Etiological workup

?Fetal MRI

Clinico-diagnostic flow chart

18Rev Bras Ginecol Obstet 2016;38:436–442.

Etiology of antenatal ventriculomegaly

Neural tube defect

Aqueductal stenosis

Inutero infection

Inutero bleed/ inutero trauma

Associated with posterior fossa anomalies

CNS malformations- Hydranencephaly/ Schizencephaly/ VOGM/ agenesis of CC

Congenital CNS tumours

X linked hydrocephalus

Autosomal recessive hydrocephlaus

Cytogenetic abnormalities/ Syndromic associations

Isolated ventriculomegaly

Congenital viral infections and common viable trisomy are associated in

3 to 15% of cases.

In-utero infections with VM

The overall prevalence of infection in fetuses with VM is <2 percent

Toxoplasmosis and CMV infection are the most common infections

Fetal cerebral ventriculomegaly – UPTODATE 2019

POST DIAGNOSTIC EVALUATION

Comprehensive sonographic evaluation for other CNS anomalies/ extra CNS anomalies/ growth restriction

Characteristic sonographic findings of fetal infection intracerebral and periventricular calcifications

hepatic calcifications

hepatosplenomegaly

ascites

Polyhydramnios

Diagnostic amniocentesis

Fetal echocardiogram.

Diagnostic amniocentesis

Diagnostic amniocentesis — Amniocentesis ≥15 wks of gestation.

Amniotic fluid is tested for

Chromosomal microarray

Alpha-fetoprotein and acetylcholinesterase

PCR for cytomegalovirus (CMV) and toxoplasmosis

Testing for Zika virus (RNA nucleic acid test) in at-risk patients

In selected cases – DNA testing for a mutation in the L1 spectrum

IU infection and Genetic abnormalities

In cases of isolated mild to moderate ventriculomegaly(10.1–15.0 mm)

risk of infection- 1.5%

aneuploidy -3-15%

Abnormal karyotype-4.7%

Chromosomal abnormality - 5-7%(FISH, CMA)

J. Perinat. Med. 38 (2010)

Prenat Diagn 2009;29(4):381–388.

Ultrasound Obstet Gynecol 2014;44(3):254–260

Obstet Gynecol 2012;120(6):1345–1353.

Counselling- Risk estimate

Etiology?

COUNSELLING

Prognosis of severe ventriculomegaly

Non- Isolated Severe VM unfavourable prognosis 2-year survival rate ~ 16%

Isolated severe VM 33% survival rate at 2 years

Delay in neurological development-58-60%

Meta-analysis (110 patients with isolated severe VM) Pooled proportion of death- 12.1%

Survival was 87.9%

No disability- 42.2%

Mild/moderate disability-18.6%

Severe disability-39.6%

Pediatric radiology 2012

Ginekologia Polska 2019, vol. 90, no. 3, 148–153

Ultrasound Obstet Gynecol 2018; 52: 165–173

Prognosis of Isolated VM

Isolated severe VM

33% survival rate at 2 years

Delay in neurological development-58-60%

Isolated moderate VM

delay in neurological development- 25%

Isolated mild VM

delay in neurological development- 7% at 30 mo

pooled data- 11%

Ultrasound Obstet Gynecol. 2014.

Ginekologia Polska 2019

Common queries

Is the rate of developmental delay higher than in the background population?

Whether or not isolated mild VM is associated with an increased frequency of neurological problems over the general population is uncertain.

Is there an association between isolated mild ventriculomegaly and neuropsychiatric disorders?

Caution : It is not possible to determine with

certainty prenatally that mild ventriculomegaly is

truly isolated

PROGRESSIVE vs STABLE VM

Persistence or progression a/w with a less favorable prognosis.

Among 106 live born infants followed in one series

VM increased in utero in 19 (18 %)

remained unchanged in 37 (35 %)

improved or disappeared in 50 (47 %)

Prenat Diagn. 2015 Aug;35(8):783-8.

Ultrasound Obstet Gynecol. 2009.

TOTAL=106 NORMAL

OUTCOME

ADVERSE OUTCOME

REDUCTION (N=50) 92%

UNCHANGED(N=37) 35%

PROGRESSED(N=19) 21% 44%

PROGRESSIVE VM- Neurosurgery

Consult with a pediatric neurosurgeon.

Some neonates require surgical intervention, such as ventriculo-amniotic shunting

In-utero surgical correction of meningomyelocele (few centres)

IN UTERO SHUNTING

In utero shunting — Fetal ventriculo-amniotic shunting first performed in the 1980s.

A series including 44 fetuses reported a

procedure-related death rate of 10 %

a perinatal mortality rate of 17 %

moderate-to-severe handicaps in 66 percent of the survivors

No apparent improvement in outcome

Better selection of those fetuses most likely to benefit from in utero shunting.

In utero surgery for hydrocephalus.

Childs Nerv Syst. 2003;19(7-8):574.

Ventriculo-amniotic shunting

The criteria of selecting patients for VA shunting:-

Fetuses with isolated progressive ventriculomegaly

Accurate exclusion of other central nervous system and extra-central-nervous-system anomalies

Patient selection is the challenge

Prenatal repair

Management of Myelomeningocele Study (MOMS)

Prenatal repair of MMC before 26 weeks of GA

decreased incidence of postnatal hydrocephalus

better outcomes related to motor function

A randomized trial of prenatal versus postnatal repair of myelomeningocele.

N Engl J Med 2011.

RECURRENCE RISK -COUNSELLING

Recurrence risk ranges from 4 to 50 percent, depending upon the

Patients at risk for X-linked hydrocephalus spectrum should be

offered DNA diagnosis- recurrence risk is high (50 % in males).

Isolated ventriculomegaly with no precise cause determined

the recurrence risk is ~4 percent.

Couples with affected child should receive genetic counselling and

thorough evaluation.

UPTODATE 2019-FETAL VENTRICULOMEGALY

COUNSELLING

If the etiology of VM is

trisomy 21

congenital cytomegalovirus

or associated malformations are identifiedmore specific counselling

Pregnancy termination is an option and should be offered.

In those patients who elect to terminate, evaluation to confirm or determine the etiology is warranted to determine recurrence risk

UPTODATE 2019- FETAL VENTRICULOMEGALY

What postnatal management and type of follow‐up are recommended?

Detailed clinical examination at birth

Postnatal Neurosonogram

Follow‐up should continue until development is established as normal

MRI after the age of 1 year

To exclude lesions of the white matter that are not detectable during intrauterine or early postnatal life.

CHALLENGES

Heterogenous etiology

Risk of intrauterine infection, aneuploidy and neurological abnormality are poorly quantified

Measurement technique plays a crucial role in the diagnostic process

Prenatal diagnosis/ etiology is not always determined

Isolated mild ventriculomegaly- Diagnosis of exclusion(13% are detected not be isolated postnatally)

Optimal time to perform Fetal MRI is unclear

THANK YOU

Prognosis for severe VM associated with other malformations is unfavourable, with a 2-year survival rate not exceeding 16%. Prognosis of isolated severe VM is slightly better, with a 33% survival rate at 2 years and normal neurological and physical development in 10–62.5% of cases, depending on the study [3, 6–8]. Moderate VM is associated with other anomalies in 10–50% of the cases, whereas mild VM is associated in a very low percentage of cases. Prognosis is conditioned by the existing concomitant anomalies. Regarding the prognosis of isolated forms, a delay in neurological development can be found in 25% of cases of moderate and in up to 7% of cases of mild VM

Radiol med DOI 10.1007/s11547-013-0952-

Postnatal imaging

Falip et al. assessed whether, after a complete prenatal work‐up including MRI, there remains a risk of the mild VM not being truly isolated at birth7.

Postnatal MRI was performed in 76 infants and 21 abnormalities not detected prenatally were found, including three arachnoid cysts, four subependymalpseudocysts and 14 white matter signal abnormalities, most of which were not visible before the age of 1 year

Falip C, et al. Postnatal clinical and imaging follow‐up of infants with prenatal

isolated mild ventriculomegaly: a series of 101 cases. PediatrRadiol 2007.

Consultant Pediatric Neurologist Ankura Hospital for women and children, Hyderabad DNB ... ·...

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