Neonatalogy congenital malformation of neonate

1. COLLEGE OF HEALTH SCIENCE
DEPARTMENT OF MIDWIFERY
COURSE NEWBORN CARE
FOR POSTBASIC
Congenital malformation
1
03-01-2023 BY SHambel N.

2. Learning objective
• Student able understand
– Different types of congenital malformation
– Differentiate types, pathophysiology and
management of hydrocephalus
– Describe Neural tube defects (NTDs
– Understand the d/c b/nMyelomeningocele and
meningocele

3. Hydrocephalus
 It is the progressive enlargement of the ventricular system secondary
to excessive cerebrospinal fluid (CSF) volume.
 It is caused by an imbalance between CSF production, absorption,
and impaired CSF circulation.
 associated with increased intracranial pressure (ICP) and an
enlarging head.
 an occipitofrontal head circumference of >2 standard deviations of
normal is consistent with macrocephaly due to hydrocephalus.
 It occurs when the ventricles are >15 mm wide.
 Occasionally, hydrocephalus can present with normal head size but
with marked ventricular dilatation.

4. Hydrocephalus…

5. Hydrocephalus..
 Cerebrospinal fluid is primarily produced in the choroid plexus that
lines the ventricles (mostly by lateral ventricles in humans).
 Approximately 80% is choroid plexus in origin, and the remainder is
contributed from substances of the brain and spinal cord.
 Cerebral fluid acts as a buffer between the brain and the skull.
 Normally secretion of CSF occurs at a rate of 0.3 to 0.4 mL/min
(500 mL/d).
 Total volume of CSF ranges from 10 to 30 mL for preterm infants
and 40 mL for full-term infants; 99% of CSF is water.

6. Hydrocephalus..

7. Hydrocephalus..
CSF drains from lateral ventricles via the foramen of
Monro into the third ventricle, via the aqueduct of
Sylvius into the fourth ventricle, and then into the
subarachnoid space via the foramina of Luschka and
Magendie.
CSF enters the venous circulation by way of the
absorptive arachnoid villi that line the superior sagittal
sinus.
Disruption in this pathway can cause hydrocephalus

8. Diagram to show intracerebral drainage of cerebrospinal fluid. Reproduced from
Levene 1987, with permission of Churchill Livingstone, Elsevie

9. Hydrocephalus..
• Two mechanisms exist to explain the pathologic accumulation of
CSF:
Non-communicating (or obstructive) hydrocephalus
• This may be any blockage along the ventricular CSF pathway that
keeps it from reaching the subarachnoid space or disrupts the normal
reabsorptive function of the arachnoid villi.
• For example,
– blockage may be from aqueductal stenosis, ventriculitis, or
– a clot following an extensive intraventricular hemorrhage resulting in
non-communicating hydrocephalus.

10. Hydrocephalus…
Communicating (absorptive) hydrocephalus
• Results when CSF is able to pass through all the foramina,
including the foramina at the base of the skull (cisterna magna),
• but is not absorbed into the venous drainage of the cerebral
circulation because of the obliteration of the arachnoid villi, as in
bacterial meningitis or following an extensive subarachnoid
hemorrhage
Incidence
• The incidence of neonatal hydrocephalus alone is unknown.
• When included in the diagnosis of spina bifida, it occurs in 2 to 5
births per 1000.

11. Pathophysiology
Congenital hydrocephalus(CH)
• It is a state of progressive ventricular enlargement that starts before
birth and is apparent on the first day of life.
• CH is non-communicating (obstructive) in presentation and results
from developmental malformations of the brain that disturb CSF
pathways.
• Most malformations occur between 6 and 17 weeks of gestation.
• usually accompanied by other anomalies of the brain, namely
holoprosencephaly or encephalocele.
• Fifty percent of CH cases presenting as fetal hydrocephalus are
associated with myelomeningocele, Arnold-Chiari malformation,
aqueduct stenosis,

12. Pathophysiology
Post-infectious hydrocephalus
• May be either communicating or noncommunicating.
• Bacterial meningitis (eg, group B Streptococcus, Escherichia coli, or
Listeria monocytogenes) and subsequent arachnoiditis cause
communicating hydrocephalus due to loss of the CSF absorptive
sites.
• However, a ventriculitis leads to obstruction within the ventricular
system, usually the floor of the third ventricle and within the
aqueduct of Sylvius (tuberculosis or toxoplasmosis).
• Indirectly related to the CSF circulatory disturbance can be the
formation of postinfectious subdural effusion with increased ICP
and subsequent hydrocephalus

13. Risk factors
• Congenital malformations (eg, aqueductal
stenosis),
• central nervous system hemorrhages,
• infections

14. Clinical presentation
Head circumference
• Daily head circumferences (HC) performed by a primary medical
caregiver improve the reliability of the measurements.
• Normal head growth is 0.5 to 1 cm/wk. An abnormally increased
HC remains a hallmark of clinical findings.
• In addition, distended scalp veins, separating scalp sutures, a full or
bulging fontanel, and cerebral bruit are signs of significantly
increased ICP
• Feeding intolerance, with or without vomiting

15. Clinical presentation…
• Eye findings. The “setting-sun sign” of the eyes shows
increased appearance of sclera above the iris and is
suggestive of increased ICP.
• It is an important but inconsistent sign in
preterm and term infants
• Behavioral state changes- Irritability or
lethargy
• Seizures character

16. Diagnosis
 Antenatal diagnosis
– ultrasound as early as 15 to 18 weeks’ gestation.
– Amniocentesis is advisable to evaluate chromosomal abnormalities
(trisomy 13 and 18), fetal sex (X-linked aqueductal stenosis), and α-
fetoprotein levels.
– Maternal serology for suspected intrauterine infection (toxoplasmosis,
syphilis, or cytomegalovirus).
 Newborn physical examination.
– Head growth of 2 cm/wk is a sign of progressive ventricular dilation.
 Make a note of the parents’ head sizes.
 Infants with X-linked aqueductal stenosis
– may have a characteristic flexion deformity of the thumb.
 Infants with Dandy-Walker malformation -have occipital cranial prominence

17. Management
Fetal hydrocephalus
• If fetal pulmonary maturity can be assured, consider prompt cesarean
delivery
• If the lungs are immature, there are options:
– Immediate delivery with the risk of prematurity.
– Delayed delivery until the lungs are mature with the risk of persistently
increasing ICP.
– Antenatal steroids can be administered for induction of lung maturity, with
delivery of the infant as soon as lung maturity is established.
– Fetal surgery options of in utero ventricular drainage with ventriculoamniotic
shunt or transabdominal external drainage.
• Consultation. Ideal management calls for a team approach with the
obstetrician, neonatologist, neurosurgeon, ultrasonographer, geneticist,
ethicist, and family members.

18. Management…
Congenital aqueductal stenosis or neural tube defects
• Decompress by prompt placement of a ventricular
bypass shunt into an intracranial or extracranial
compartment.
• Surgical management-The method of choice is
placement of a ventriculoperitoneal (VP) shunt.
• The outcome may be better with “early” shunting.

19. Long-term complications of shunts
• scalp ulceration
• infection (usually staphylococcal)
• arachnoiditis
• occlusion
• development or clinical worsening of an inguinal hernia or hydrocele,
• organ perforation (secondary to intraperitoneal contact of a catheter with a
hollow viscus),
• blindness,
• endocarditis,
• renal and heart failure.
• The age of< 6 month appears to be a major risk factor for shunt infection in
infants.

20. Neural tube defects (NTDs)
are malformations of brain and spinal cord
It is abnormalities occurs when the neural tube fails to
close properly, leaving the developing brain or spinal
cord exposed to the amniotic fluid.
In normal development, the closure of the neural tube
occurs over a 4- to 6-day period with completion
around the 29th day post-conception

21. Causes
 Combination of environmental and genetic causes
 Genetic syndrome - Meckel-Gruber syndrome (autosomal
recessive), which presents with encephalocele, microcephaly,
polydactyly, cystic dysplastic kidneys
 Teratogens :
 - Drugs -antifolates (aminopterin, methotrexate, phenytoin,
phenobarbital, valproic acid), thalidomide
 -Radiation
 Infection and maternal illnesses.
 Nutritional deficiencies . - notably, folic acid deficiency, vitamin B12

22. Risk factor
• All pregnancies are at risk for an NTD. However,
women with a history of a previous pregnancy with (
NTD).
• women with first degree relative with(NTD)
• women with type 1 diabetes mellitus
• women with seizure disorders on Na valproic acid.
• women or their partners who themselves have an NTD.

23. Clinical presentation
 The most severe NTDs are the obvious cranial defect in
anencephaly
 Open spinal defects of the thoracic and/or lumbar spine with
open spinal NTDs, both with exposure of neural tissue.
 Intact skin cover may show an obvious mass (eg, an
occipital encephalocele)
 Bulging of the skin cover over the occipital or spinal defect
 Small openings sometimes missed on initial examination,
dimples, or hair patches.

24. Diagnosis of NTD
 Prenatal screen using maternal serum `-fetoprotein
(AFP) at 14–16 weeks’ gestation.
– Elevated levels are indicative of open NTDs a
 Prenatal diagnosis.
– fetal ultrasonography with anomaly screening.
– Measurement of the amniotic fluid AFP and
acetylcholinesterase.
• Amniocentesis is usually done between 16 and 18 weeks’
gestation, although it can technically be done as early as 14
weeks’ gestation

25. Neural Tube Defects..
the common Neural Tube Defects
• Spina Bifida - 60%
• Anencephaly - 30%
• Encephalocele - 10%

26. Spinal bifida
A midline defect of the :
– bone
– skin,
– spinal column, &/or
– spinal cord.
• occurs when the lower end of the neural tube fails to close.
• Thus, the spinal cord and backbones do not develop properly.
• Sometimes, a sac of fluid protrudes through an opening in the back,
and a portion of the spinal cord is often contained in this sac

27. Spina Bifida
• Spina Bifida is divided into two subclasses :
1 - Spina Bifida Occulta(closed ) :
 - mildest form ( meninges do not herniate through the opening in the spinal
canal )
 Sometimes called hidden spinal bifida
 There is small gap in the spine
 No longer opening or sac on the bac
2 -Spina Bifida Cystic ( open) :
- meningocele and myelomeningocele

28. Fig The varieties of spina bifida

29. Spinal bifida occulta
 Failure of fusion of the vertebral arch .
 The meninges do not herniate through the bony defect. This lesion is covered by
skin.
Symptoms :
 Difficulties controlling bowel or bladder .
 weakness and numbness in the feet
 recurrent ulceration
Signs :
 Overlying skin lesion :
 tuft hair - lipoma - birth mark or small dermal sinus
 Usually in the lumbar region .

30. Diagnosis
- X-ray.
- Clinical by P/E

31. Management of spinal bifida occulta
Surgery to close the gap b/n vertebreate
Physical or occupational therapy to improve
muscle strength
 treating bladder or bowel problems if the have

32. Spinal bifida Cystic
The 2 major types of defects seen here are
myelomeningoceles and meningoceles.
lumobosacral regions are the most common
sites for these lesions .
 Cervical and thoracic regions are the least
common sites.

33. Myelomeningocele
sac of the fluid come through opening in the
baby's back

34. Myelomeningocele
• The spinal cord and nerve roots herniate into a
sac comprising the meninges.
• This sac protrudes through the bone and
musculocutaneous defect.

35. Myelomeningocele
Occur with certain neurologic anomalies
such as :
- hydrocephalus
- Chiari II malformation

36. Myelomeningocele
 These account for 80% of spina bifida cystica lesions.
 They are associated with herniation of nervous tissue and permanent
neurological deficit
 Defect in the lumbar or thoracic spine with herniation of the meningeal sac
and spinal cord tissue with leakage of CSF

37. Clinical features of myelomeningocoele
• The spinal abnormality is obvious at birth; clinical
• Site of lesion. About 70% are lumbosacral.
• Covering of sac. Usually meninges, but occasionally the sac is ruptured, leading to CSF leakage
and consequent risk of meningitis.
• Neurological examination:
– motor loss – this is generally lower motor neuron in type and the extent depends on the site
of the lesion.
– sensory loss – this depends on the position of the lesion, and the level is often
asymmetrical.
– neurogenic bladder – the patient usually dribbles urine constantly and has a distended
expressible bladder.
– patulous anal tone.
• Hydrocephalus
• muscle imbalance

38. myelomeningocoele
Diagnosis :
-Antenatal :
- Elevated Alfa fetoprotein .
-US (Polyhydramonis ) .
At birth :
- Clinical finding

39. Management of myelomeningocele
• A careful assessment of the newborn infant by appropriate specialists
• Treatment is always discussed with the parents, whose wishes should be
considered.
• Many centres use Lorber’s criteria for conservative treatment.
• Lorber followed a large number of babies with meningomyelocoele, and
identified the following bad prognostic criteria:
– Total paralysis of the legs.
– Thoracolumbar or thoracolumbosacral lesions.
– Severe kyphoscoliosis.
– Hydrocephalus at birth.
– Other major congenital malformations

40. Management of myelomeningocele
• If one or more of these features was present at birth, Lorber recommended
conservative management.
• This consists of nursing care only, but does not rule out subsequent reappraisal of
the need for neurosurgery.
• Some centres close the skin lesion routinely even if opting for palliative care.
• If active treatment is pursued, which it increasingly is, the following approach
would be adopted:
– Early neurosurgery. Closure of the sac within 24 hours of birth,
– Orthopaedic assessment and treatment as necessary.
– Supportive care. Pressure sores need to be prevented by careful positioning and skin care
– Psychological careful support and counselling.
– Genetic counselling for future pregnancies.

41. Meningocele
simply herniation of the meninges through the bony
defect (spinal bifida).

42. Meningocele
• These account for 20% of spinal bifida cystical lesions.
• Bony defect with herniation of meninges but not the spinal
cord. The lesion is covered with skin
• In this condition there is no herniation of nervous tissue, and
consequently no neurological deficit.
• There is a risk of meningitis if the sac leaks CSF
simply herniation of the meninges through the
bony defect (spinal bifida).

43. Meningocele
• Fluid-filled sac with meninges involved but neural
tissue unaffected .
• The spinal cord and nerve roots do not herniate into this
dorsal dural sac.
• The primary problems with this deformity are cosmetic

44. Meningocele
• Neonates with a meningocele usually have normal
findings upon physical examination and a covered
(closed) dural sac.
• Neonates with meningocele do not have associated
neurologic malformations such as hydrocephalus or
Chiari II.
• May complicated by CSF infection.

45. Treatment of meningocele
The key priorities in the treatment of meningocele
are to prevent infection from developing through
the tissue of the defect on the spine
 to protect the exposed structures from additional
trauma
Surgery (within the first few days of life) to close
the defect
prevent infection or further trauma

46. Anencephaly
 In this condition the forebrain is absent
 congenital absence of a major portion of the brain, skull, and scalp
 is the most severe prenatally detected neural tube defect
 the cerebral hemispheres can develop in this condition, any exposed brain
tissue is subsequently destroyed
 Anencephaly is incompatible with life and results in stillbirth or neonatal
death.
 Anencephaly is sometimes divided into two subcategories.
 The milder form is known as meroacrania, which describes a small defect in the cranial
vault covered by the area cerebrovasculosa.
 The more severe form is holoacrania, in which the brain is completely absent

47. Anencephaly
• Failure of development of most of the cranium and
brain.
• Infants are born without the main part of the forebrain-
the largest part of the cerebrum.

48. Clinical presentation
• The fetus usually blind, deaf and unconscious
• partially destroyed brain, deformed forehead, and large ears
and eyes with often relatively normal lower facial structures
• Symptoms
– Mom- Polyhydramnios
– Baby- absence of brain/skull

49. Anencephaly
Diagnosis
– Prenatal screening
• Triple Screen( alpha fetoprotein ,hcg ,esraiol )
• Ultrasound
• amniocentesis
– clinically at delivery

50. Anencephaly
Treatment
– None, incompatible with life
Management
– Comfort Measures
– Support Parents

51. Encephalocele
 Is a condition failure of midline closure of the skull,
usually with herniation of the brain.
 Up to 80% of cases occur in the occipital region
 This lesion occurs about 28 days after conception.
 The prognosis depends on the amount of brain in the sac.
 If the infant is microcephalic with a large encephalocoele,
the prognosis is very poor.
 Neurosurgery is necessary to close the defect.

52. Encephalocele
• Extrusion of brain
and meninges
through a midline
Skull defect .
• - Often associated
with cerebral
malformation

53. Diagnosis of encephalocele
• Amniocentesis
– AFP - indication of abnormal leakage
• Blood test
– Maternal blood samples of AFP
• Ultrasonography
– For locating back lesion vs. cranial signs

54. Prognosis of encephalocele depends on
1. the presence and amount of brain in the
herniated sac
2. the presence or absence of hydrocephalus
3. the presence or absence of microcephaly
4. the presence or absence of other anomalies
that suggest a syndromic

55. Management of encephalocele
A complete physical examination is indicated to rule
out an associated syndrome
Consultation with a medical genetics specialist should
be obtained, and with a pediatric neurosurgeon if the
parents are considering surgery.
surgical treatment is performed as soon as possible
surgical treatment for frontal/sincipital encephaloceles
include removal of the encephalocele
Other supportive care

56. Management of NTD
 Identify
– Prenatal
– At birth
 Protect pre-op and post-op
– Skin integrity to prevent infection
– Special handling to reduce nerve damage
 Support
– Parental coping
– Pictures of similar defects corrected
 Genetic Counseling
– For future pregnancy
– In early pregnancy, therapeutic abortion
 Education
– Symptoms of hydrocephalus and Symptoms of meningitis
– Follow up for monitoring to assess neurologic damage

57. Prevention of NTD
 All women of childbearing age who are capable of
becoming pregnant should consume 0.4 mg of folic acid
daily.
 Women with a previous pregnancy resulting in a fetus
affected by an NTD should consume 4 mg of folic acid.
 Folic acid should ideally be taken before conception and at
least through the first few months of gestation
 use dietary contain folic acid and supplementation of folic
acid