Case Presentations

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Case Presentations

• Ermos Nicolaou
• Fetal Medicine Centre
• C H Baragwanath Hospital

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Case 1

• Mrs S B A
• 32 year old patient, P1G2
• LNMP 22/10/2003
• Triple Trimester Screening AFP 2 MOM ( screen
  positive for NTD)
• Repeat AFP 1 week later confirms result
• Referred to FMC

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• On scan
• Normal growth, Gest age 17 w 5d
• Male fetus
• Lemon sign
• Prominent posterior ventricles
• Spine

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Head and Brain
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NEURAL TUBE DEFECTS- Discussion

• These include
• Anencephaly
• Spina bifida
• Encephalocoele
• In anencephaly there is absence of the cranial
  vault  (acrania) with secondary degeneration of
  the brain
• Encephaloceles are cranial defects, usually
  occipital, with herniated fluid-filled or
  brain-filled cysts

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NEURAL TUBE DEFECTS Spina Bifida

• In spina bifida the neural arch, usually in the
  lumbosacral region, is incomplete with secondary
  damage to the exposed nerves

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Spina Bifida Prevalence

• Subject to large geographical and temporal
  variations
• In the UK the prevalence is about 5 per 1,000
  births
• Anencephaly and spina bifida, with an
  approximately equal prevalence, account for 95
  of the cases and encephalocele for the remaining
  5

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Spina Bifida - etiology

• Chromosomal abnormalities,
• single mutant genes,
• maternal diabetes mellitus
• ingestion of teratogens, such as antiepileptic
  drugs, are implicated in about 10 of the cases
• precise etiology for the majority of these
  defects is unknown

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Spina Bifida -Prevalence

• When a parent or previous sibling has had a
  neural tube defect, the risk of recurrence is
  5-10.
• Periconceptual supplementation of the maternal
  diet with folate ( 5mg daily) reduces the risk
  of developing these defects by about 50

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Spina bifida

• Diagnosis of spina bifida requires the systematic
  examination of each neural arch from the cervical
  to the sacral region both transversely and
  longitudinally
• In the transverse scan the normal neural arch
  appears as a closed circle with an intact skin
  covering, whereas in spina bifida the arch is "U"
  shaped and there is an associated bulging
  meningocoele (thin-walled cyst) or
  myelomeningocoele

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Spina bifida
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Spina bifida

• The diagnosis of spina bifida has been greatly
  enhanced by the recognition of associated
  abnormalities in the skull and brain
• secondary to the Arnold-Chiari malformation and 
  include frontal bone scalloping (lemon sign), and
  obliteration of the cisterna magna with either an
  "absent" cerebellum or abnormal anterior
  curvature of the cerebellar hemispheres (banana
  sign).

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NEURAL TUBE DEFECTSSpina bifida
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NEURAL TUBE DEFECTSSpina bifida
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NEURAL TUBE DEFECTSSpina bifida

• A variable degree of ventricular enlargement is
  present in virtually all cases of open spina
  bifida at birth, but in only about 70 of cases
  in the midtrimester

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Prenatal Diagnosis

• elevated maternal serum alpha-feto-protein (AFP)
• level II ultrasound
• amniocentesis - elevated AFP and
  acetylcholinesterase

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MANAGEMENT

• 1. Surgery
• There is some experimental evidence that in-utero
  closure of spina bifida may reduce the risk of
  handicap because the amniotic fluid in the third
  trimester is thought to be neurotoxic
• 2. Supportive
• for complications
• physiotherapy
• anticonvulsants
• ophthalmology follow-up

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Prognosis

• In spina bifida the surviving infants are often
  severely handicapped, with paralysis in the lower
  limbs and double incontinence
• In male fetuses there may be sexual dysfunction.
• Despite the associated hydrocephalus requiring
  surgery, intelligence may be normal

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• Parents are undecided regarding the way forward.
• Possibly opt for TOP

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Case No 2

• Mrs T L B
• 26 year old patient P2 G3
• Presenting at 34 weeks with an intrabdominal
  solid- cystic mass
• So far the pregnancy was uneventful

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Scan

• Normal growth
• Normal amniotic fluid
• Normal liver, stomach, spleen, kidneys, bladder
• GIT appears normal
• Female fetus

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34 weeks
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Management

• Due to advanced gest age and EFW of 2.5Kg no
  invasive testing was done
• DD
• Ovarian cyst/ haemorrhagic cyst/ torsion/dermoid
  cyst (unlikely)
• GIT related mass (meconium pseudocyst)
• MRI performed 1 week later
• Strong suspicion of Ovarian pathology

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Fetal ovarian cysts

• Definition
• Fetal ovarian cysts represent cystic lesions
  confined to the lower abdomen of a female fetus,
  when the stomach, bladder and both kidneys appear
  normal.
• The diagnosis is made by exclusion of other
  cystic lesions of fetal abdomen. The cysts may
  achieve a considerable size, reaching up to 5 cm
  for large cysts.
• The cysts can be unilateral or bilateral,
  unilocular or multilocular

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Etiology

• There is controversy with respect to the cause of
  these cysts.
• ? excessive stimulation of the fetal ovary by hCG
  from the placenta may be a significant factor in
  cyst formation.

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Ultrasound features

• These criteria are diagnostic of fetal ovarian
  cysts in most cases
• 1. Presence of a cystic structure that is
  regular in shape and located at one side of the
  fetal abdomen.
• 2. Integrity of the urinary and gastrointestinal
  tracts.
• 3. Female sex of the fetus.
• The diagnosis is always presumptive.
• Torsion can be suspected when  intracystic
  flocculation is observed followed by
  sedimentation on the sloping part of the cyst.
  
• Most cases of fetal ovarian cysts are diagnosed
  in late second trimester of pregnancy or in early
  third trimester.

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Prognosis

• Continuous ultrasound monitoring of antenatally
  diagnosed fetal ovarian cysts is recommended.
• The tendency of simple cysts to regress near term
  or in the early neonatal period does not justify
  in-utero therapy.
• In cases where fetal ovarian cysts show evidence
  of in-utero torsion, induction of labor may be
  considered provided lung maturity has been
  established.

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Case No 3

• Ms C B
• 23 year old patient
• P0G1, presenting at 24 weeks for ? IUGR
• On scan No IUGR
• But Prominent Gallbladder in the fetus
• Otherwise normal scan with normal growth

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25w
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• Patient went to Jhb Gen Hospital
• Referred back to C H B with ? Gall bladder
  pathology

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36w
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Discussion

• Whether all echogenic foci in the fetal
  gallbladder represent true gallstones remains
  unknown.
• Echogenic foci are usually seen in the fetal
  gallbladder during the third trimester.
• No predisposing fetal risk factors or clinical
  sequelae are usually evidemt.
• Many echogenic foci, but not all, will resolve.

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Discussion

• Series of 26 fetuses (Brown D L et al, Radiology,
  182 (1)73-6)
• The echogenic foci were associated with
• distal shadowing in eight fetuses (30),
• comet-tail artifact in nine (35),
• and no distal artifact in nine (35).

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Discussion

• Postnatal sonographic or pathologic follow-up
  studies were available in 17 cases.
• In nine of these 17 infants, the echogenic foci
  had resolved.
• In three, the foci have persisted, but none of
  the children have become symptomatic
• the longest period of follow-up with stones still
  present is
• 4 1/2 years