Kelainan Kongenital Mayor

Kuliah Klarifikasi

1. SPINA BIFIDA
Failure of fusion of the vertebral arches.
This mesodermal defect may be associated with a
defect of ectoderm and neuroectoderm.

Spina Bifida
Incidence 2 2.5 / 1,000 births

Genetic Predisposition
10% incidence of positive family histories
5% incidence of Spina Bifida / Encephalocele
in sibling of an affected child
10-15% incidence if two siblings affected

Causes & Risk factors

Causes

Risk factors

Doctors aren't
certain

Race hispanics, whites

Sex girls > boys
Family history
Folate deficiency
Medication
Diabetes
Obesity
Increased body temp

Family history of
neural tube defects
and folic acid
deficiency
Combination of
genetic and
environmental risk
factors

Types of spina bifida

1.

spina bifida
occulta
2. spina bifida
cystica
Meningocele
Myelomeningocel
e

Spina Bifida
Symptoms

symptoms are caused by complications

of spina bifida

People with spina bifida

occulta are almost
always completely
asymptomatic

The most common complications

Various degrees of leg paralysis, spine
curvature (scoliosis), hip, foot, and leg
deformities, and problems with bowel and
bladder control
Infection in the tissues surrounding the
brain (meningitis).
Hydrocephalus
Obesity (due to inactivity) and urinary tract
disorders (due to poor drainage)
Growth hormone deficiency resulting in
short stature
Although most people with spina bifida

 Treatment should address any disability,

physical, emotional, or educational, that
interferes with that persons potential
Achieve the highest possible level of
function and independence

There is no cure for spina bifida

Management

Peran bidan

Bumil
Neonat
us

400 Microgram
folic acid daily
Continue for 1st
three months of
pregnancy

Deteksi dini
Perawatan cele
Rujukan tepat

Hidrosefalus
Hydrocephalus is the buildup of fluid in the cavities
(ventricles) deep within the brain

Hydrocephalus

Cerebrospinal fluid normally flows through the

ventricles and bathes the brain and spinal
column
The pressure of too much cerebrospinal fluid
associated with hydrocephalus can damage
brain tissues and cause a large spectrum of
impairments in brain function
Hydrocephalus is caused by an imbalance
between how much cerebrospinal fluid is
produced and how much is absorbed into the
bloodstream.

 Rarely happens

Often related to inflammation of brain

tissue from disease or injury
The most common problem is a partial
obstruction of the normal flow of
cerebrospinal fluid

Overprodu
Overprodu
c
c
tion
tion

Poor
Poor
absorptio
absorptio
n
n

Obstructio
Obstructio
n
n

Excess cerebrospinal fluid in the ventricles

occurs for one of the following reasons

Risk factors in newborns

Abnormal
Bleeding
developme
within the
nt of the
ventricles
CNS
(premature)
Infection in
the uterus
during a
pregnancy

Symptoms in infants
Changes in the head

Physical symptoms

An unusually large head

Vomiting

A rapid increase in the size of the head

Sleepiness

A bulging or tense soft spot (fontanel)

on the top of the head

Irritability

Poor feeding

Seizures

Eyes fixed downward (sunsetting of the

eyes)

Deficits in muscle tone and strength,

responsiveness to touch, and expected
growth

Penatalaksanaan
Umum

Khusus

Pengawasan suhu atau pencegahan

hipotermi.

Pengukuran lingkar kepala, catat dan

buat grafiknya

Pencegahan infeksi.

Pengawasan dan pencegahan muntah

Observasi aktivitas,reaksi dan

rangsangan,serta adanya dilatasi pupil
strabismus.

Pengawasan kejang

Pemberian makanan dan minuman

(small frequent feeding)

Pencegahan Dekubitus

Intake-output.

Perawatan sehabis BAK dan BAB.

Peran bidan

Penatalaksa
naan umum

Penatalaksa
naan khusus

Rujukan
tepat

Gastroschizis & Omphalocele

Intestines herniate through the abdominal wall

gastroschisis

omphalocele

Omphaloce
le

Gastroschis
is

Incidence 1:6,000-10,000 1:20,000-30,000

Covering
Sac

Present (may beAbsent

ruptured)

Fascial
Defect

Small to large

Cord
Attach.

Umbilical the sacAbd wall

Small (vascular
compromise)

Omphalocele

Gastroschisis

Herniated
Bowel

Protected

Edematous and
matted

Other organs

Liver often in sac

Remain in abd.

IUGR

Less common

Common

NEC

If sac is ruptured

18 %

How will you manage this?

Delivery Room Management:

Gastroschisis

ABCs of resuscitation
Warm, saline-soaked lap sponges, plastic
wrap or bowel bag to cover the
intestines
Decompression of the bowel ASAP
Avoid volvulus of the mesenteric vessels
Avoid tearing bowel mesentery or
causing unnecessary damage to bowel
Remember importance of
thermoregulation and controlling fluid
losses

Anus imperforata
the opening to the anus is missing or blocked.

 rectum berakhir di bawah m.levator ani

sehingga jarak antara kulit dan ujung
rectum paling jauh 1 cm.
rectum terletak pada m.levator ani tapi
tidak menembusnya
rektum berakhir di atas m.Levator ani,
jarak antara ujung buntu rectum dengan
kulit perineum >1 cm

Rendah
Rendah

IntermeIntermediate
diate

Tinggi
Tinggi

Macam letak

Gejala

Gx obstruksi
usus

apertura anal
(-)

Muntah +
abdomen
kembung

Mekonium
keluar dari
suatu orifisium
abnormal

Kesukaran
defekasi

Manajemen

Kolostomi

diseksi postero
sagital atau
plastik anorektal
posterosagital

Peran bidan

Deteksi
dini

Pemeriksa
an fisis
cermat
(colok
dubur [-])

Rujukan
tepat

Atresia esofagus

 Terdapat 5 tipe atresia

saat lahir ( busa pada sekter
oral disertai dengan tersedak
dan sianosis)
prenatal (polihidramnion)
Manifestasi pada kelainan ini

Tipe atresia esofagus

Gejala

Salivasi dan drooling berlebihan

Tiga tanda utama trakeoesofageal fistula:
batuk, tersedak, sianosis
Apnea
Meningkatnya distress pernafasan setelah
feeding
Distensi abdomen
Kebiruan pada kulit (sianosis) ketika diberi
makan
Batuk, gagging, tersedak ketika diberi makan
Sulit untuk diberi makan

Penatalaksanaan

Termoregulasi
Lewatkan selang orogastrik dan lakukan
aspirasi kantung untuk menghindari pnemonia
aspirasi
Infus cairan & nutrisi parenteral
Rujukan tepat Operasi definitif

Hirschsprungs disease
kelainan bawaan penyebab gangguan pasase usus,
dinding usus yang menyempit tidak ditemukan
ganglion parasimpatis

 70 % rektosigmoid, 10 % sampai
seluruh kolon & sekitarnya ,5 %
seluruh usus sampai pilorus
mulai dari spingter ani internus ke
arah proksimal
Aganglion pl. Meissner dan Aurbach
dalam lapisan dinding usus

 berat badan bayi tidak akan

bertambah
gangguan pertumbuhan
perut bayi terlihat
menggembung
muntah
tinja akan keluar terlambat
/tidak BAB
Gejala

 Tindakan bedah sementara

Tindakan bedah definitif
Konservatif: pasang sonde, & rectal
tube
Enterokolitis nekrotikans,
pneumatosis usus, abses perikolon,
perforasi dan septikemia

Manajem
en

Manajem
en

Kompllik
asi

Komplikasi & manajemen

Peran bidan

Detek
si dini

Mekoneum (-)
hingga 24 jam
pertama

Kenali
gejala

Distensi perut
Muntah