You are on page 1of 67

CNS AND FETAL BRAIN ANOMALIES

CNS AND
FETALBRAIN
ANOMALIES
PR E SE NTE D BY
dr.Yuri Kamila, SpOG, SubspKFM, MSc.Us,
MARS
RSUD Siti Fatimah Az-Zahra
Palembang
1 BACKGROUND

2 FETAL NEURODEVELOPMENT

3 NEUROSONOGRAPHIC FETAL CNS

OUTLINE 4 FETAL CNS ANOMALIES (TM I)

CNS AND FETAL BRAIN ANOMALIES


5 FETAL CNS ANOMALIES (TM 2 &3)

6 TAKE HOME MESSAGE

7 REFERENCES
CNS AND FETAL BRAIN ANOMALIES

BACKGROUND
• Central nervous system(CNS) malformations are someof
the most common congenital abnormalities, with an
incidence at birth of 14/10.000
• CNS malformations are second only to cardiac
malformations in terms of frequency of occurrence.
• Neural tube defects: the most frequent (prevalence of
52/100.000)
• In the first, second, and third trimester of pregnancy it is
possible to identify fetal brain malformations by ultrasound.

Backto Agenda
FETAL
NEURODEVE
- LOPMENT

Backto Agenda
CNS AND FETAL BRAIN ANOMALIES

FETAL NEURODEVELOPMENT

Backto Agenda
CNS AND FETAL BRAIN ANOMALIES

FETAL NEURODEVELOPMENT

Backto Agenda
CNS AND FETAL BRAIN ANOMALIES

FETAL NEURODEVELOPMENT

-Pooh RK, Matsuzawa N et al. Neurosonographic Approach to Malformations of Cortical Development; Review article
DSJUOG Vol 15, Isssue 2, 2021
-Kadic AS, Predojevic M, Kurjak A. Advances in Fetal Neurophysiology; DSJUOG 2008

Backto Agenda
CNS AND FETAL BRAIN ANOMALIES

FETAL NEURODEVELOPMENT

Kadic AS, Predojevic M, Kurjak A. Advances in Fetal Neurophysiology; DSJUOG 2008


Kurjak A, Antsaklis P et al. Multicentric studies of the fetal neurobehavior by KANET test.J . Perinat Med.2017:45(6)

Backto Agenda
CNS AND FETAL BRAIN ANOMALIES

KURJAK ANTENATAL
NEURODEVELOPMENTAL TEST (KANET)

Kurjak A, Antsaklis P et al. Multicentric studies of the fetal neurobehavior by KANET test.J . Perinat Med.2017:45(6)

Backto Agenda
CNS AND FETAL BRAIN ANOMALIES

KURJAK ANTENATAL
NEURODEVELOPMENTAL TEST (KANET)

Kurjak A, Antsaklis P et al. Multicentric studies of the fetal neurobehavior by KANET test.J . Perinat Med.2017:45(6)

Backto Agenda
NEUROSONO
- GRAPHY
OF FETAL CNS

Backto Agenda
CNS AND FETAL BRAIN ANOMALIES

First Trimester Ultrasound

-ISUOG Practice Guidelines: performance of first-trimester fetal ultrasound scan, Ultrasound Obstet Gynecol 2013
-Ungureanu DR, Dragusin RC et alFirst Trimester Ultrasound Detection of Fetal Central Nervous System Anomalies; Brain Sci 2023

Backto Agenda
CNS AND FETAL BRAIN ANOMALIES

First Trimester Ultrasound

Nuchal Transluchency Fetal spine

Backto Agenda
CNS AND FETAL BRAIN ANOMALIES

INTRACRANIAL TRANSLUCHENCY

Intracranial Transluchency (4th Ventricle)

Backto Agenda
CNS AND FETAL BRAIN ANOMALIES

NEUROSONOGRAPHY FETAL BRAIN

Second and third trimester

Four standard viewsare used for assessment


of the elements of the fetal head:
• 1 = falx view,
• 2 = transventricular view,
• 3 = cavum view,
• 4 = posterior fossa or transcerebellar view

Backto Agenda
CNS AND FETAL BRAIN ANOMALIES

NEUROSONOGRAPHY FETAL BRAIN


Cavum view
Falx view
Transcerebellar view

Transventricular view

Backto Agenda
CNS AND FETAL BRAIN ANOMALIES

NEUROSONOGRAPHY FETAL BRAIN


A systematicevaluation of the brain usually includes visualization of
four coronal and three sagittal planes (ISUOG, 2021)

Coronal planes
(a)Transfrontal plane.
(b) Transcaudate plane.
(c) Transthalamic plane.
(d) Transcerebellar plane.

Backto Agenda
CNS AND FETAL BRAIN ANOMALIES

NEUROSONOGRAPHY FETAL BRAIN


Sagittal planes of fetal head.

(a)Midsagittal anterior plane: median section of


corpus callosum (arrows); below it, cavumsepti
pellucidi with cavumvergae (whenpresent); third
ventricle (3); fourth ventricle (*); cerebellar vermis
(V). Sylvian aqueduct mayalso be visualized.

(b)Parasagittal plane: brain parenchyma (BP); lateral


ventricle (lv) with its choroid plexus (cp); temporal
horn; small part of Sylvian fissure (arrow).
ISUOG Practice Guidelines (updated): sonographic examination of the fetal central nervous system. Part 2: performance of targeted
neurosonography. Ultrasound Obstet Gynecol 2021; 57: 661–671

Backto Agenda
CNS AND FETAL BRAIN ANOMALIES

NEUROSONOGRAPHY FETAL BRAIN

Backto Agenda
CNS AND FETAL BRAIN ANOMALIES

NEUROSONOGRAPHY FETAL BRAIN

Transventricular (a) and transcerebellar (b) planes of fetal brain at 16 weeks.

Backto Agenda
CNS AND FETAL BRAIN ANOMALIES

NEUROSONOGRAPHY FETAL BRAIN

Backto Agenda
CNS AND FETAL BRAIN ANOMALIES

NEUROSONOGRAPHY FETAL SPINE


• Transverse or axial planes.
• Sagittal planes.
• Coronal planes.

Sagittal view of lower thoracic and sacral


fetal spine at 18 gestational weeks.

Backto Agenda
CNS AND FETAL BRAIN ANOMALIES

NEUROSONOGRAPHY FETAL SPINE


• Transverse or axial planes.
• Sagittal planes.
• Coronal planes.

Coronal view of fetal spine

Backto Agenda
CNS AND FETAL BRAIN ANOMALIES

NEUROSONOGRAPHY FETAL SPINE


• Transverse or axial planes.
• Sagittal planes.
• Coronal planes.

Axial views of fetal spine at different


levels: (a) cervical; (b) thoracic; (c)
lumbar; (d) sacral

Backto Agenda
CNS AND FETAL BRAIN ANOMALIES

MRIof Fetal Brain

Considered May add significant


complementary to clinical information
neurosonography when requested

Performed only after, and to


Can replace
complement a neurosonographic
neurosonography as the
examination and only if indicated by
second-line evaluation
an expert

Backto Agenda
FETAL CNS
ANOMALIE
S INFIRST
TRIMESTER

Backto Agenda
CNS AND FETAL BRAIN ANOMALIES

ACRANIA/EXENCEPHALY/ANENCEPHALY

Normal sagittal scanof fetus at first TM Sagittal scanof afetus at 11 weeks’ gestation
with cerebral tissue but there is no skull

Backto Agenda
CNS AND FETAL BRAIN ANOMALIES

ACRANIA/EXENCEPHALY/ANENCEPHALY

Normal sagittal scanof fetus at first TM Sagittal scanof afetus at 13 weeks,


revealing asmall massabove theorbits

Backto Agenda
CNS AND FETAL BRAIN ANOMALIES

ACRANIA/EXENCEPHALY/ANENCEPHALY

Normal Normal

Backto Agenda
CNS AND FETAL BRAIN ANOMALIES

OPENSPINABIFIDA

NORMAL

a) cervical; (b) thoracic; (c) lumbar; (d) sacral

Backto Agenda
CNS AND FETAL BRAIN ANOMALIES

ENCEPHALOCELE
Normal fetal brain US at 11weeks

Backto Agenda
MECKEL GRUBER SYNDROME

Backto Agenda
CNS AND FETAL BRAIN ANOMALIES

HYDROCEPHALUS: VENTRICULOMEGALY
Hydrocephaly at 12 weeks. Axial scanswith enlarged lateral ventricles at two
different levels (A and B) and the choroid plexus occupying only apart of ventricles

NORMAL Transverse axial scan at the level of lateral ventricles. (1) Lateral ventricles (2) Choroid
plexus (3) Cavum septum pellucidum. b Coronal view of fetal lateral ventricles through, posterior
fontanel, CP choroid plexus, FH frontal horns

Backto Agenda
CNS AND FETAL BRAIN ANOMALIES

HOLOPROSENCEPHALY

Alobar HPE: one


ventricle and fused
thalami

Normal first trimester anatomy of the fetalbrain


abstracthttps://www.dsjuog.com/abstractArticleContentBrowse/DSJUOG/5933/JPJ/fullText

Backto Agenda
CNS AND FETAL BRAIN ANOMALIES

HOLOPROSENCEPHALY

Backto Agenda
CNS AND FETAL BRAIN ANOMALIES

HOLOPROSENCEPHALY

Backto Agenda
CNS AND FETAL BRAIN ANOMALIES

SACROCOCCYGEAL TERATOMA

NORMAL

Backto Agenda
FETAL CNS
ANOMALIES
IN2ND&3RD
TRIMESTER

Backto Agenda
CNS AND FETAL BRAIN ANOMALIES

HYDROCEPHALUS: VENTRICULOMEGALY

NORMAL

Backto Agenda
CNS AND FETAL BRAIN ANOMALIES

HYDROCEPHALUS: VENTRICULOMEGALY

NORMAL

Backto Agenda
CNS AND FETAL BRAIN ANOMALIES

ARACHNOID CYST

NORMAL

Backto Agenda
CNS AND FETAL BRAIN ANOMALIES

BLAKE'S POUCH CYST

NORMAL

Backto Agenda
CNS AND FETAL BRAIN ANOMALIES

BRAIN TERATOMA

Backto Agenda
CNS AND FETAL BRAIN ANOMALIES

CEREBELLAR DYSPLASIAS

NORMAL

Backto Agenda
CNS AND FETAL BRAIN ANOMALIES

CHOROID PLEXUS CYSTS

NORMAL
CNS AND FETAL BRAIN ANOMALIES

CHOROID PLEXUS CYSTS

Butterfly
sign CPC: Choroid Plexus Cyst
CNS AND FETAL BRAIN ANOMALIES

CORPUS CALLOSUM AGENESIS

Backto Agenda
CNS AND FETAL BRAIN ANOMALIES

DANDY-WALKER MALFORMATION
NORMAL

Backto Agenda
CNS AND FETAL BRAIN ANOMALIES

DURALSINUSTHROMBOSIS

Backto Agenda
CNS AND FETAL BRAIN ANOMALIES

HYDRANENCEPHALY
NORMAL

Backto Agenda
CNS AND FETAL BRAIN ANOMALIES

HEMIMEGALENCEPHALY
NORMAL

Backto Agenda
CNS AND FETAL BRAIN ANOMALIES

LISSENCEPHALY

Pooh RK, Matsuzawa N et al. Neurosonographic Approach to Malformations of Cortical Development; DSJUOG Volume 15, issue 2, 2021

Backto Agenda
CNS AND FETAL BRAIN ANOMALIES

SCHIZENCEPHALY

Open-lip schizencephaly

Backto Agenda
CNS AND FETAL BRAIN ANOMALIES

MIGRATION DISORDER

Backto Agenda
CNS AND FETAL BRAIN ANOMALIES

MEGACISTERNA MAGNA
NORMAL

Backto Agenda
CNS AND FETAL BRAIN ANOMALIES

MACROCEPHALY

Backto Agenda
CNS AND FETAL BRAIN ANOMALIES

MICROCEPHALY
NORMAL

Microcephaly pada usia 18


minggu

Backto Agenda
CNS AND FETAL BRAIN ANOMALIES

PORENCEPHALIC CYST

NORMAL

Backto Agenda
CNS AND FETAL BRAIN ANOMALIES

HEMIVERTEBRA

NORMAL

Backto Agenda
CNS AND FETAL BRAIN ANOMALIES

HEMIVERTEBRA

Backto Agenda
CNS AND FETAL BRAIN ANOMALIES

TUBEROUS SCLEROSIS

Backto Agenda
CNS AND FETAL BRAIN ANOMALIES

SEPTO-OPTIC DYSPLASIA

NORMAL

Backto Agenda
CNS AND FETAL BRAIN ANOMALIES

VEINOF GALEN ANEURYSM

Backto Agenda
TAKEHOMEMESSAGE
• Fetal CNS abnormalities are a leading cause of in utero mortality
and postnatal morbidity, and accurate prenatal diagnosis with
US is essential for appropriate management

• Some malformations may be detectable as early as the first-


trimester scan

• If suspicion of a brain or spinal abnormality is raised during the


obstetric ultrasound screening examination, the woman should
undergo targeted fetal neurosonography as a diagnostic
examination

Backto Agenda
CNS AND FETAL BRAIN ANOMALIES

THAN
K YOU
REFERENCES
• Cater SW, Boyd BK, Ghate S V. Abnormalities of the fetal central nervous system: Prenatal us diagnosis with postnatal
correlation. Radiographics. 2020;40(5):1458-1472.

• Salomon LJ, Alfirevic Z, Bilardo CM, et al. ISUOG practice guidelines: Performance of first-trimester fetal ultrasound
scan. Ultrasound in Obstetrics and Gynecology. 2013;41(1):102-113.

• Fong KW, Ghai S, Toi A, Blaser S, Winsor EJT, Chitayat D. Prenatal ultrasound findings of lissencephaly associated with
Miller-Dieker syndrome and comparison with pre- and postnatal magnetic resonance imaging. Ultrasound in Obstetrics
and Gynecology. 2004;24(7):716-723.

• Paladini D, Malinger G, Birnbaum R, et al. ISUOG Practice Guidelines (updated): sonographic examination of the fetal
central nervous system. Part 2: performance of targeted neurosonography. Ultrasound in Obstetrics and Gynecology.
2021;57(4):661-671.

• Malinger G, Paladini D, Haratz KK, Monteagudo A, Pilu GL, Timor-Tritsch IE. ISUOG Practice Guidelines (updated):
sonographic examination of the fetal central nervous system. Part 1: performance of screening examination and
indications for targeted neurosonography. Ultrasound in Obstetrics and Gynecology. 2020;56(3):476-484.

Backto Agenda
REFERENCES
• Van den Veyver, IB. Prenatally diagnosed developmental abnormalities of the central nervous system and genetic syndromes: A
practical review. Prenatal Diagnosis. 2019; 39: 666–678.

• Moreira Neto R, Porovic S. Clinical study of fetal neurobehavior by the KANET test. J Perinat Med. 2018;46(6):631-639.

• Ungureanu DR, Drăgușin RC, Căpitănescu RG, Zorilă L, Ofițeru AMI, Marinaș C, Pătru CL, Comănescu AC, Comănescu MC, Sîrbu OC,
et al. First Trimester Ultrasound Detection of Fetal Central Nervous System Anomalies. Brain Sciences. 2023; 13(1):118.

• Krutzke SK, Engels H, Hofmann A, et al. Array-based molecular karyotyping in fetal brain malformations: Identification of novel
candidate genes and chromosomal regions. Birth Defects Res A Clin Mol Teratol. 2016;106(1):16-26.

• Wyldes M, Watkinson M. Isolated mild fetal ventriculomegaly. Arch Dis Child Fetal Neonatal Ed. 2004;89(1).

• Monteagudo A. Exencephaly-anencephaly Sequence. Am J Obstet Gynecol. 2020;223(6):B5-B8.

• Pooh RK. Fetal Neuroimaging of Neural Migration Disorder. Ultrasound Clin. 2008;3(4):541-552.

Backto Agenda

You might also like