Professional Documents
Culture Documents
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
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.
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FETAL
NEURODEVE
- LOPMENT
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CNS AND FETAL BRAIN ANOMALIES
FETAL NEURODEVELOPMENT
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CNS AND FETAL BRAIN ANOMALIES
FETAL NEURODEVELOPMENT
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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
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CNS AND FETAL BRAIN ANOMALIES
FETAL NEURODEVELOPMENT
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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)
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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)
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NEUROSONO
- GRAPHY
OF FETAL CNS
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CNS AND FETAL BRAIN ANOMALIES
-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
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CNS AND FETAL BRAIN ANOMALIES
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CNS AND FETAL BRAIN ANOMALIES
INTRACRANIAL TRANSLUCHENCY
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CNS AND FETAL BRAIN ANOMALIES
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CNS AND FETAL BRAIN ANOMALIES
Transventricular view
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CNS AND FETAL BRAIN ANOMALIES
Coronal planes
(a)Transfrontal plane.
(b) Transcaudate plane.
(c) Transthalamic plane.
(d) Transcerebellar plane.
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CNS AND FETAL BRAIN ANOMALIES
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CNS AND FETAL BRAIN ANOMALIES
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CNS AND FETAL BRAIN ANOMALIES
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CNS AND FETAL BRAIN ANOMALIES
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CNS AND FETAL BRAIN ANOMALIES
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CNS AND FETAL BRAIN ANOMALIES
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CNS AND FETAL BRAIN ANOMALIES
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CNS AND FETAL BRAIN ANOMALIES
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FETAL CNS
ANOMALIE
S INFIRST
TRIMESTER
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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
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CNS AND FETAL BRAIN ANOMALIES
ACRANIA/EXENCEPHALY/ANENCEPHALY
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CNS AND FETAL BRAIN ANOMALIES
ACRANIA/EXENCEPHALY/ANENCEPHALY
Normal Normal
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CNS AND FETAL BRAIN ANOMALIES
OPENSPINABIFIDA
NORMAL
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CNS AND FETAL BRAIN ANOMALIES
ENCEPHALOCELE
Normal fetal brain US at 11weeks
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MECKEL GRUBER SYNDROME
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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
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CNS AND FETAL BRAIN ANOMALIES
HOLOPROSENCEPHALY
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CNS AND FETAL BRAIN ANOMALIES
HOLOPROSENCEPHALY
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CNS AND FETAL BRAIN ANOMALIES
HOLOPROSENCEPHALY
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CNS AND FETAL BRAIN ANOMALIES
SACROCOCCYGEAL TERATOMA
NORMAL
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FETAL CNS
ANOMALIES
IN2ND&3RD
TRIMESTER
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CNS AND FETAL BRAIN ANOMALIES
HYDROCEPHALUS: VENTRICULOMEGALY
NORMAL
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CNS AND FETAL BRAIN ANOMALIES
HYDROCEPHALUS: VENTRICULOMEGALY
NORMAL
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CNS AND FETAL BRAIN ANOMALIES
ARACHNOID CYST
NORMAL
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CNS AND FETAL BRAIN ANOMALIES
NORMAL
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CNS AND FETAL BRAIN ANOMALIES
BRAIN TERATOMA
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CNS AND FETAL BRAIN ANOMALIES
CEREBELLAR DYSPLASIAS
NORMAL
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CNS AND FETAL BRAIN ANOMALIES
NORMAL
CNS AND FETAL BRAIN ANOMALIES
Butterfly
sign CPC: Choroid Plexus Cyst
CNS AND FETAL BRAIN ANOMALIES
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CNS AND FETAL BRAIN ANOMALIES
DANDY-WALKER MALFORMATION
NORMAL
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CNS AND FETAL BRAIN ANOMALIES
DURALSINUSTHROMBOSIS
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CNS AND FETAL BRAIN ANOMALIES
HYDRANENCEPHALY
NORMAL
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CNS AND FETAL BRAIN ANOMALIES
HEMIMEGALENCEPHALY
NORMAL
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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
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CNS AND FETAL BRAIN ANOMALIES
SCHIZENCEPHALY
Open-lip schizencephaly
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CNS AND FETAL BRAIN ANOMALIES
MIGRATION DISORDER
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CNS AND FETAL BRAIN ANOMALIES
MEGACISTERNA MAGNA
NORMAL
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CNS AND FETAL BRAIN ANOMALIES
MACROCEPHALY
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CNS AND FETAL BRAIN ANOMALIES
MICROCEPHALY
NORMAL
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CNS AND FETAL BRAIN ANOMALIES
PORENCEPHALIC CYST
NORMAL
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CNS AND FETAL BRAIN ANOMALIES
HEMIVERTEBRA
NORMAL
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CNS AND FETAL BRAIN ANOMALIES
HEMIVERTEBRA
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CNS AND FETAL BRAIN ANOMALIES
TUBEROUS SCLEROSIS
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CNS AND FETAL BRAIN ANOMALIES
SEPTO-OPTIC DYSPLASIA
NORMAL
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CNS AND FETAL BRAIN ANOMALIES
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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
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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.
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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).
• Pooh RK. Fetal Neuroimaging of Neural Migration Disorder. Ultrasound Clin. 2008;3(4):541-552.
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