THE SPINE DOESN’T LOOK SO RIGHT!

FETAL CASE ON HEMIVERTEBRAE

MOMINA ZULFEEN
OUTLINE

• CASE
• USG FINDINGS
• HISTORY
• CONGENITAL SPINE DEFECTS
• HEMIVERTEBRAE
• DIAGNOSIS, D.D
• ASSOCIATIONS
• Algorithm
• MANAGEMENT
• KEYPOINTS
CASE
• 32 year old G3P2 at 20+ weeks gestation with previous 2 term c/s
• EDC – Dec 12 2019
• Efts 1/1900. AFP normal. Anatomy scan at 18+wks showed vertebral anomaly, referred to HRC
• Detailed scan done at 21 weeks.
• No history of fever/rash/recent travel. TORCH negative. GCT normal.
• H/O LGA in second pregnancy. Infant had renal thrombosis at 12 months of age ?dehydration.
Thrombophilia screen negative.
• Patient Sephardic Jewish, Partner Ashkenazi. Ashkenazi panel negative.
• No addictions/teratogens.
• No family history of birth defects.
FINDINGS ON DETAILED ANATOMY SCAN

• Active foetus
• Biometry corresponding to gestation – 21w
• HEAD-normal
• Face- Normal
• Abdomen- Normal. Kidneys normal, Bladder normal. Stomach bubble seen. AF normal.
SPINE

• Abnormal spine with short segment kypho-scoliosis in mid lumbar spine and suggestion of hemi-
vertebra at one or more levels
• Non mineralization /absent sacral spine
Spine sag and axial L1 hemivert and small sacrum
L1 level Above hemivertb

Below hemivertb Sacral level

EXTREMITIES

• Upper right and left limbs normal, radius normal

• Lower limbs-
• Bilateral talipes equinovarus.
• Restricted movement of the legs which are persistently crossed position.
• Rest of fetal anatomy normal.
Persistent crossed legs, minimal movement
Normal dactyly
Normal radius
HEART
• Suspected small membranous VSD
Significant narrowing of LVOT and transverse segment of aortic arch.
3 VV normal
Narrowing of aortic arch
 KIDNEYS VISUALIZED
NORMAL BLADDER,3VC

NO CLEFT.NORMAL
NORMAL BRAIN SWEEPS
HISTORY

• Obstetrician Ian Donald and engineer Tom

Brown developed the first prototype systems
based on an instrument used to detect industrial
flaws in ships.
• The first sonographic appearance of vertebral
ossification centres were demonstrated in 1988
using water bath and vertebral column of a
17week born fetus!
• In 1991, sonographic evaluation of distal spine
reported.
• From 1998 , 3D ultrasounds were reported
Gray, Diana L., James P. Crane, and M. A. Rudloff. "Prenatal diagnosis of neural tube defects: origin of midtrimester vertebral ossification centers as
determined by sonographic water‐bath studies." Journal of ultrasound in medicine 7.8 (1988): 421-427.
Budorick, N. E., Pretorius, D. H., Grafe, M. R., & Lou, K. V. (1991). Ossification of the fetal spine. Radiology, 181(2), 561-565.
DEVELOPMENT AND EMBRYOLOGY

• 206 skeletal elements , 3 cell types, 3 cell

lineages Cranial neural Paraxial Lateral plate
• The spine is formed by a process- crest cells mesoderm mesoderm
somatogenesis • Craniofacial • Axial • Limbs
• The somites are regularly placed and spaced skeleton skeleton • ULLL
• Proximo-
distal
CONGENITAL SPINE DEFECTS
• Embryologically,
• Fusion defects
• Formation defects
Cord
• Segmentation defects spared
• Prevalence 0.5-1 %
• Majority involve thoracic spine (64%) >
thoracolumbar > lumbar > lumbosacral spine
• Male to female – 0.31 multiple vs 0.68 single
• Diabetics 2x
FORMATION AND SEGMENTATION DEFECTS

• Formation defect:
Failure of development of one ossification centre  hemivertb.

• Segmentation defect:
2 adjacent  block vertb
Specific regions  U/L bars

Debnath, U. K., Goel, V., Harshavardhana, N., & Webb, J. K. (2010). Congenital scoliosis–Quo vadis?. Indian journal of orthopaedics, 44(2), 137.
Segmentation defects Formation defects

COURTESY- Kaplan, K. M., Spivak, J. M., & Bendo, J. A. (2005). Embryology of the spine and associated congenital abnormalities. The Spine
Journal, 5(5), 564-576.
HEMI VERTEBRA

• Hemi vertebra are triangular shape vertebrae in

which only one half of the body develops.
• Incidence 0.5-1/1000. F:M 3:1
• Etiology- Interrupted vascular supply
• Classification-
• Unsegmented – fusion above and below
• Partial – above or below
• Fully segmented- separated
• Leads to kyphosis, scoliosis, lordosis or
shortening of spine
DIAGNOSTIC FEATURES

• Abnormal curvature of the spine should prompt further investigation

• Segmentation anomalies appear as abrupt angulation
• Hemivertebrae appear as a triangular structure with absent or diminished contralateral element
• 1/3rd have multiple levels
• Most common – Midthoracic and lower lumbar
• 3D / MRI suited
Mild scoliosis-needs further Hemivertebra Post natal Xray
testing thoracolumbar level

Courtesy - Creasy, R. K., Resnik, R., Iams, J. D., Lockwood, C. J., Moore, T., & Greene, M. F. (2013). Creasy and Resnik's Maternal-Fetal Medicine:
Principles and Practice E-Book. Elsevier Health Sciences.
DIFFERENTIAL DIAGNOSIS-SCOLIOSIS

• Transient positional curvature of spine

• Caudal regression
• NTD
• Limb body wall complex
• Amniotic band sequence
• Arthrogryposis
ISOLATED OR ASSOCIATED?

• Frequently (2/3) associated with other anomalies

• Renal – 20-40%
• Cardiac – 10-15%
• The term association is used to describe the ‘non- random’ tendency of some malformations to occur
together more commonly than would be expected by chance
• Prognosis depends upon the associated abnormalities
• Isolated -50% progress slowly, 25% stable 25% progress rapidly
• Recurrence- isolated single –none ; multiple isolated – 5-10%, AR- 25%

Paoletti, Debra, Meiri Robertson, and Sock Bee Sia. "A sonographic approach to prenatal classification of congenital spine anomalies." Australasian
journal of ultrasound in medicine 17, no. 1 (2014): 20-37.
Creasy, R. K., Resnik, R., Iams, J. D., Lockwood, C. J., Moore, T., & Greene, M. F. (2013). Creasy and Resnik's Maternal-Fetal Medicine: Principles and
Practice E-Book. Elsevier Health Sciences.
SYNDROMES AND ASSOCIATIONS

Syndromes Associations
• Extensive list of syndromes are identified • Non – random
• Usually with one identifiable cause. Eg. genetic • No identifiable cause
• Most common- • Include acronyms
• Goldenhar syndrome • VATERR
• Klippel-feil syndrome • VACTERL
• Alagille syndrome • MURCS – mullerian, renal, cervico-thoracic
aplasias
• Jarcho-Levin syndrome
• OEIS – Omphalocele, cloacal extrophy,
• Gorlin syndrome imperforate anus, spinal deformity
Jones, K. L., Jones, M. C., & Del Campo, M. (2013). Smith's Recognizable Patterns of Human Malformation E-Book: Expert Consult-Online and Print.
Elsevier Health Sciences.
VACTERL

• V: vertebral anomalies
• hemivertebrae
• congenital scoliosis
• caudal regression
• spina bifida
• A: anorectal anomalies
• anal atresia
• C: cardiac anomalies; cleft lip
• TE: tracheo-esophageal fistula +/- esophageal atresia
• R: renal anomalies; radial ray anomalies
• L: limb anomalies
• polydactyly
• oligodactyly

Solomon, B. D. (2011). Vacterl/Vater association. Orphanet journal of rare diseases, 6(1), 56.
DIAGNOSIS

• At least three of the above features (in each category) is considered necessary for the diagnosis of this
condition
• The following slide shows images of possible anomalies

Khalid, S., Faizan, M., Alam, M. M., Hassan, F., Zaheer, S., & Khalid, M. (2013). Congenital longitudinal radial deficiency in infants: spectrum of
isolated cases to VACTERL syndrome. Journal of clinical neonatology, 2(4), 193.
ADDITIONAL IMAGING

• Fetal echo for detailed cardiac imaging

• Fetal MRI is currently the preferred imaging for further imaging
• Recent times, low dose Fetal CT is being performed with excellent results.

Victoria, T., Epelman, M., Coleman, B. G., Horii, S., Oliver, E. R., Mahboubi, S., ... & Jaramillo, D. (2013).
Low-dose fetal CT in the prenatal evaluation of skeletal dysplasias and other severe skeletal
abnormalities. American Journal of Roentgenology, 200(5), 989-1000.
ANATOMY –SONOGRAPHY

• Vertebral anomalies are usually picked by clues- abnormal spine curvature and unpaired ossification
centres
• Usual GA at diagnosis 18-28 weeks.
• A satisfactory examination of the fetal spine requires expertise and meticulous scanning, and the results
are heavily dependent upon fetal position.
• Complete evaluation of the fetal spine from every projection is not part of the basic examination,
although transverse and sagittal views are usually informative. (ISUOG)
• The following flow chart shows the algorithm to aid in identification of anomaly

ISUOG
 Abnormal spine

Flared
Abnormal curvature Short spine
vertebrae-NTD

Segmentation defects- No distal convergence of

Open Closed Other gross anomalies Distal convergence +
isolated vertebral arch

Segmental spinal
?sacral agenesis
dysplasias
Consider LBWC, VACTER, Look for other
VACTERL Look for other
abnormalities-
abnormalities-
cardiac,renal
pulmonary,cardiac,renal

Adopted from Creasy, R. K., Resnik, R., Iams, J. D., Lockwood, C. J., Moore, T., & Greene, M. F. (2013). Creasy and Resnik's Maternal-Fetal Medicine:
Principles and Practice E-Book. Elsevier Health Sciences.
 REVIEW OF LITERATURE
• A literature search performed through pubmed using MeSH terms ("Spine/abnormalities"[MAJR]) AND
"Ultrasonography, Prenatal"[MeSH Terms] “, 96 relevant articles found and filtered for terms
hemivertebrae and scoliosis.
• Included case reports, case series on scoliosis and 7 retrospective observational studies on
hemivertebrae.
CASE REPORTS ASSOCIATIONS n
Down syndrome 1
Pentalogy of cantrell 1
VACTERL 20
OEIS 4
LBWC 2
BODY STALK 1
NTD 20
SPONDYLOCOSTAL DYSOSTOSIS 2
PUBLISHED OBSERVATIONAL STUDIES –ANTENATAL
Reference Isolated Coexisting Systems Sig findings

Zelop et al 11 16 Cardiac ,intestinal Coexisting anomaly-

,renal , limb 50% survival

Goldstein et al 3 "ultrasonography, prenatal"[mesh])

23 and ( Cardiac, renal, cranial,
intestinal, skeletal
"scoliosis/congenital"[mesh] or "scoliosis/diagnosis"[
Weisz et al 2 4 VATER, gastroschisis

Forrester et al 2 40 Cardiac, skeletal, cleft Incidence hemivertb –

lip, intestinal, cloacal 1.33/1000. N
karyotype in all
Segata et al 10 7 VACTER, talipes, Normal karyotype
exomphalos
Wax et al (2008) 5 14 5 syndromic- jarco Normal karyotype in
Levin, LBWC all. 20% growth
73% other anomalies restricted
• Recent article by Basude et al on ‘Fetal hemivertebra :associations and perinatal outcome” published in
2015 is the largest series to date.

Basude S, McDermott L, Newell S, et al. Fetal hemivertebra: associations and perinatal outcome. Ultrasound Obstet Gynecol. 2015;45(4):434-438.
doi:10.1002/uog.13401
ANTENATAL MANAGEMENT
MULTIDISCIPLINARY APPROACH
Obstetric counselling and management depend on the
• Time of diagnosis
• Isolated or multiple
• Associated malformations
• Chromosomal analysis and further imaging to be offered
• AFP if there is a question of NTD
• Serial scans.
• Involve Genetics. Neonatology, Pediatric orthopedics. Radiologist.
• Option for termination. Post birth treatment options and prognosis.
• Hospital delivery. C/S for obstetric indications.
 NEONATAL MANAGEMENT
• Usual neonatal care for most cases of isolated HV
• Careful physical examination, neonatal CXR. Pediatric orthopaedic surgery.
• Surgical management:
3 key factors
• Early diagnosis
• Anticipation of scoliosis
• Prevention of deterioration
• Surgical options
• Spinal fusion
• Growing rods, MAGnetic expansion control growing rods
• Vertebral column
• Hemi vertebra resection
• Vertical expandable prosthetic titanium rib

https://www.chop.edu/news/early-confirmation-spine-deformities-improves-prenatal-counseling
OUR PATIENT

Counselling included:
• Empathic discussion on ultrasound findings
• Pattern of malformation suggestive of VACTERL and other possible syndromes
• Discussion on management options
1. no further testing and post natal testing
2. non invasive fetal MRI, serial ultrasounds, fetal echo
3. invasive testing amniocentesis with karyotyping and microarray
4. termination of pregnancy-opted
5. discussion on recurrence
• Amniocentesis – attempted, needle long enough. Declined further testing.
• Fetal echo, MRI - declined
• Pediatric, Genetic counselling done
COURSE IN HOSPITAL

• Patient induced with misoprostol in Mount Sinai hospital

• Unfortunately ended up in scar rupture and needed laparotomy (RF C/S*2)
• Autopsy NA
• No post natal pictures available
KEY POINTS

• Abnormal angulations of fetal spines suggest further testing

• Fetal 3D skeletal imaging is an excellent modality . Fetal MRI for suspected associations
• Most cases of significant scoliosis and other associated abnormalities are part of a
syndrome/association with poor prognosis
• Isolated hemi vertebrae have an excellent long term prognosis
Imaging and Imagining the Fetus: The Development of Obstetric Ultrasound" (The Johns Hopkins University Press, 2013
Malcolm Nicolson, a history of medicine professor at the University of Glasgow