Congenital anomalies.pdf

Congenital Abnormalities
Prepared By:
Reena Bhagat
Senior Nursing Instructor
Maternal Health Nursing
BPKIHS

Introduction
 A congenital abnormality ( birth defect) is
an abnormality in body structure or function
that it present at birth.
 While most congenital abnormalities can be
recognized at birth, unfortunately some
internal abnormalities (e.g. of the heart) or
functions (e.g. hemophilia) can sometimes
only be diagnosed weeks or months after
birth.
2/23/2023 Reena Bhagat 2

Contd..
 About 2.5 to 3 percent of all infants have
a congenital abnormality.
 Congenital anomalies can be caused by
single gene defects, chromosomal
disorders, multifactorial inheritance,
environmental teratogens or micronutrient
malnutrition.

Definitions
 Congenital anomalies can be defined as
structural or functional anomalies (for example,
metabolic disorders) that occur during
intrauterine life and can be identified
prenatally, at birth, or sometimes may only be
detected later in infancy, such as hearing
defects.
 Congenital anomalies are also known as birth
defects, congenital disorders or congenital
malformations. In simple terms, congenital
refers to the existence at or before birth (WHO)

Causes of Congenital Abnormalities
The causes are not fully understood and some
factors have been implicated. They include:
 Chromosomal abnormalities: e.g. Down
syndrome, in which there is an extra
chromosome and Turner syndrome where the
chromosome is a missing or partially missing.
 Gene abnormalities: These are often inherited
from either one parent or both parents (e.g
autosomal dominant, autosomal recessive, x
linked recessive), when there is a defect in the
genetic maternal contained in the ovum or
sperm an abnormality will result.

Contd..
 Teratogens: These are substances in the
environments which can damage the fetus. The
very small delicate organs have little resistance to
infection or noxious substances which can reach
them through the placenta. If an adverse factor
reaches the embryo at a time when body organ are
forming, these organs can be damaged e.g.
infection and drugs.
 Infection: Maternal rubella, cytomegalovirus,
toxoplasma either latent or overt in the first
trimester, produce congenital malformation of the
fetus.

Contd..
 Drugs: Certain drugs taken by the mother in early
pregnancy can cause abnormality. e.g. lithium,
warfarin or anticonvulsants. Great care is
exercised when prescribing drugs for the pregnant
woman and midwives should advise woman not
to take drug unless prescribed by a doctor.
 Radiation: Radio active substances have a
harmful effect on the fetus. Woman whose work
brings them into content with radiation are
advised to discontinue this employment prior to
pregnancy. Diagnostic radiography is avoided in
pregnancy as for as possible.

Contd..
 Multifactorial causes most of the malformations
probably result from delicate and complex
interaction between environment and genetic
factor, e.g. neural tube defects, congenital heart
defects
 Maternal malnutrition, metabolic and endocrinal
disorders like uncontrolled diabetes, epilepsy are
related with increased incidence of fetal
malformation. The high blood glucose
concentration damages the fetus.
 Unknown: In spite of a growing body of
knowledge the specific cause of around 80% of
abnormalities remains unspecified.

Tracheoesophageal fistula
It is an abnormal connection between the
trachea and the esophagus.

Epidemiology
 1 in 3500 births
 Male predominance.
 Common in prematurity.
 50% with associated anomalies.
 Cardiac anomalies.( 14.8 – 24 %)

Risk factors
 First pregnancy
 Age of mother below 20 yrs
 Elderly mothers
 Multiple births
 Trisomy 18( Edward’s syndrome)

Pathophysiology
Defective separation due to deviated or incomplete septum
or due incomplete fusion of tracheal folds result in fistula
formation between the trachea and the esophagus
Respiratory tract is then separated from the esophagus.
At 4-5 weeks of gestation, a laryngo-tracheal groove is
formed and divides the foregut into two longitudinal
furrows.
Upper part of esophagus develops from retro- pharyngeal
segment of primitive gut and the lower part from the first
part.

Types of TEF
Type A: In this type, only an esophageal atresia
(EA) is present; there is no TEF. This occurs in
about 8% of cases.
Type B: In this rare type, the bottom portion of the
esophagus ends in a blind pouch, while the upper
portion of the esophagus is connected to
your windpipe by a TEF. Type B occurs about 2% of
the time.
Type C: This is the most common type. It occurs in
about 85% of infants born with a TEF. In this type,
the upper part of the esophagus ends in a blind
pouch, while the lower part is connected to the
windpipe by a TEF. 2/23/2023 Reena Bhagat 14

Contd.
Type D
This is the rarest type. It occurs in under 1% of
cases. In this type, the TEF links both portions of
the esophagus (upper and lower) to the windpipe.
Type E
Known as an H-type fistula, in this type, the
esophagus connects to the stomach in a standard
manner. At the same time, a TEF links the
esophagus and windpipe together. This type occurs
in 4% of cases.

Clinical Features
• Excessive salivation and constant drooling
of saliva from the mouth.
• Violent response during feeding : (3 C s)
• Coughing
• Chocking
• Cyanosis
• Fluid returns through the mouth and nostrils.
• Frothy salivation.
• Abdominal distension in types C, D, E.
• Aspiration Pneumonia.

Investigations
1. Prenatal
2. Postnatal
Prenatal:
a) USG : reveals polyhydramnios, absence
of fluid filled stomach, a small abdomen,
and a distended esophageal pouch.
b) Fetal MRI: Confirmatory.

Contd..
Postnatal:
X-Rays: done using radio opaque catheter
in the esophagus to check for obstructions.
Bronchoscopy: shows fistula between
trachea and esophagus.
Inability to pass nasogastric tube due to
resistance.

Management
 Management at maternity ward
• Withhold fluid by mouth
• Frequent suctioning to prevent lung infection
• Antibiotic should be administered Transferred
immediately to a pediatric surgical unit
 Operation (Surgical correction)
• Thoracotomy and ligation of tracheoesophageal fistula.
• Anastomosis of proximal and distal oesophagus.
• Replacement of the gap between proximal and distal
oesophagus at 6-8 months of age by isolated segment
of color or by gastric tube.

Contd..
Preoperative management:
• Initiate nothing by mouth (NPO) status.
• Elevate the head of the bed 30 to 45 degrees to
prevent reflux and aspiration.
• Monitor hydration status and fluid and electrolyte
balance.
• Administer and monitor parenteral iv fluid
infusion. Patent and clean airway is maintained. If
necessary gentle oropharyngeal suction may be
done.
• Have oxygen and suctioning equipment readily
available should the newborn experience
respiratory distress. 2/23/2023 Reena Bhagat 20

Contd..
• Assist with diagnosis studies to rule out other
anomalies.
• Use comfort measures to minimize crying and
prevent respiratory distress.
• Temperature should be maintained at 37°C. The
baby should be wrapped properly by cotton wool,
if the incubator or radiant warmer is not available.
• 0.5mg vitamin K is given IM as single dose and
broad spectrum antibiotics are started.
• Following investigation report should be collected
e.g. hematocrit, urine examination, blood sugar,
serum electrolytes, x-ray chest and abdomen.

Contd..
• Fresh blood should be arranged after proper
grouping and cross matching.
• Parents of the baby should be informed about the
surgical condition, type of surgery and prognosis.
• Document frequent observations of the newborn's
condition.
• Other pre-operative care same as other major
operation.

Contd..
Post operative care
• Frequent oropharyngeal suction proximal to
anastomosis is done carefully.
• Maintenance of vital signs and if necessary
ventilatory assistance is given.
• Antibiotic and intravenous fluid are started.
• Feeding through the gastrostomy tube after 48
hours following x-ray chest is given.
• Dilatation of the esophagus by soft red rubber
catheter 14 days post operative should be started.

Complications
Early:
 Pneumothorax
 anastomotic leak
 Recurrence of fistula
 Pneumonitis and atelectasis due to aspiration
of food and secretions
Late
 Anastomotic structure
 Gastro esophageal reflux
 Tracheal stenosis

Cleft lip/ Cleft Palate
 The dictionary meaning of cleft is a crack, fissure, split
or gap.
 Cleft lip and cleft palate are birth defects that occur
when a baby’s lip or mouth do not form properly
during pregnancy. Together, these birth defects
commonly are called “orofacial clefts”.
 Cleft lip and palate is a congenital birth defect which is
characterized by complete or partial cleft of lip and/or
palate.
 Not life threatening unless associated with other
syndrome
 Severity may vary from trace of notching of upper lip
to complete non fusion of lip, primary palate and
secondary palate. 2/23/2023 Reena Bhagat 25

Contd..
 The approximate incidence is 1 in 700 live births,
among them, 85% are associated with cleft palate.
 Isolated cleft palate occurs in 1 in 2000 live births
 Negroids having least incidence (0.4/1000) and
mongoloid and afghans(4.9/1000) having the
highest incidence.
 Cleft lip is more common among males and cleft
palate is more commonly among females.
 Unilateral clefts accounting for 80% of incidence
and bilateral for remaining 20%.
 Among unilateral clefts, clefts involving left side
are seen in 70% of cases.

Contd..
Incomplete fusion of embryonic structures
surrounding primitive oral cavity.
Approximately 1 in 1000-2000 birth but there is
geographical variation.
Pathophysiology
Cleft lip and cleft palate is congenital abnormality
is the result of failure of the fusion between the
frontonasal process with the maxillary process.
The cleft lip or palate may be unilateral or lateral
and may occur together or in isolation.

Contd..
Etiology
 Unknown
 Evidence of hereditary influence
 Increased frequency in relatives.
 Higher incidence in monozygotic twins than in
dizygotic twins.
 Prenatal exposure to toxic substances e.g.
phenytoin, valproic acid, thalidomide, tobacco
etc.
 Occurs with other congenital anomalies

Cleft Lip( Hare lip)/ Cleft Palate
 Cleft lip is congenital incomplete closure of the
lip. A cleft lip involves a congenital fissure or
longitudinal opening in the upper lip.
 It may be lateral (85%) or bilateral (15%). It is
more common on the left side than right.
Causes:
 Multi factorial inheritance
 Environmental factors
 Heredity

Pathophysiology
 During the 6th week of gestation of fetal
development period, the maxillary process is
needed to fuse with the nasal elevations on the
frontal prominence and merging of the upper lip
at the midline is completed between 7 to 8th
weeks of gestation.
 But if the failure, maxillary process is failed to
fuse with nasal elevation then cleft lip will
develop.

Contd..
Diagnosis:
Examination: The midwife will easily recognize
cleft lip (visible deformity).
Problem: Serious feeding problems rarely occur
with cleft lip.
Management of cleft lip :
If baby breastfeeds successfully, discharge and
follow up in one week to assess weight. The parents
are taught to feed their baby successfully.

Contd..
• If baby cannot breastfeed, give expressed breast
milk use in alternative feeding method, such as a
spoon/cup. The baby is best fed in the upright
position to minimize regurgitation of feeds through
the nose.
• Frequent burping after each feeding.
• Provide emotional support and reassurance to the
mother.
• Explain importance of feeding to ensure adequate
growth until surgery can be done. Refer for
surgical repair. Usually this correction
accomplished at 6 to 12 weeks of age or when the
infant weight at least 10 pounds, and is free of oral,
respiratory or systemic infection.

Contd..
• Although surgery can be performed at any age.
Repair at an early age can be more successful
than done when the child is older, more active,
and better able to interfere with the healing
process.
• Early correction of cleft lip enables more normal
sucking patterns and facilitates bounding and
improves nutritional status.

Cleft Palate
 Incomplete fusion of palatal structures, may
involve soft or hard palate; may extend into nose,
forming oronasal passageway.
 Longitudinal opening in the roof of the mouth
failure of fusion of palate parts of the maxillary,
processes leads to various degree of cleft palate.
Incomplete cleft palate: Involving soft palate and
part of the hard palate.
Complete cleft palate: Involving both the soft and
hard palate. Unilateral when the cleft palate is
associated with one sided cleft lip. Bilateral when
the cleft palate is associated with bilateral cleft lip.

Contd..
Incidence: Approximately 1 in 2000 birth. It is
more common in boys than girls.
Causes:
 Exact causes is unknown.
 Heredity. Risk increase with the relatives and
monozygotic twins having the defects.
 Chromosomal defects
 Environmental factors
 Teratogenic drugs (phenytoin), alcohol
consumption, smoking during pregnancy.

Contd..
Pathophysiology
During embryonic development the lateral and
medial tissue forming the upper lip fuse between
weeks 7 and 8 weeks of gestation, the palate tissue
forming the hard and soft palates fuse between 7
and 12 weeks of gestation. Cleft lip and palate
result when these tissue fail to fuse.
Diagnosis
 Prenatal diagnosis by USG as early as 14-16
weeks of pregnancy to rule out abnormalities.
 Examination after birth

Contd..
Problems with cleft palate
• Deformity of the face and dentine.
• Vocal-nasal intonation (speech problem) rise and
fall of the pitch of the voice in speaking.
• Mechanical difficulty in swallowing. Nasal
regurgitation. Hence the children are
malnourished.
• Dental crippling: The upper two central incisors
protrude out producing disfigurement.
• Aspiration of food stuff leading to repeated chest
infection
• Severe feeding problem.
• Hearing Impairment caused by recurrent otitis media

Contd..
Management of cleft palate
Refer for surgical repair/ surgical correction. The
cleft palate repairs the defect before one year of
age to enhance normal speech development or
repair by 9-18 months of age before phonation.

Contd..
Midwifery Management
• Providing adequate nutrition.
• Give expressed breast milk using a spoon/cup.
• Provide emotional support and reassurance to the
mother.
• The parents are taught to feed their baby
successfully and fed in the upright position to
minimize regurgitation of feeds through the nose.
• Explain importance of feeding to ensure adequate
growth until surgery can be done.
• If the baby has a cleft palate, give expressed
breast milk using an alternative feeding method.

Contd.
Clean mouth with water after feeding.
Feed the infant in an upright position to present
aspiration. Feed slowly.
Assess for achievement of adequate suction during
feeding.
Burp the infant frequently to reduce the risk for
vomiting and aspiration burp him or her in the
sitting position on your lap to prevent trauma to the
month on your shoulder.
After feeding position the new born on his or her
side in an infant seat.

Contd..
 If the baby has a cleft lip but the palate is intact
allow the baby attempt to breastfeed. If the baby
breastfeed successfully and there is no other
problems requiring hospitalization, discharge the
baby.
 Follow up in one week to check growth and
weight gain. If the baby cannot breastfeed well
because of the cleft, give expressed breast milk
using an alternative feeding method.

Contd.
 Promoting parental bonding.
o Encourage the parents to express their feelings
about this highly visible anomaly.
o Emphasize the newborn's positive features and
role model nurturing behaviors when Interacting
with the infant.
o Encourage parents to interact with the newborn.
o Provide support to the parents, especially related
to feeding difficulties and reassurance to mother.
o

Contd...
 Providing parental education
o Explain about the surgical intervention.
o Show the family photos taken before and after
surgical repair in other babies. These photos can
alleviate some of their anxiety.
 Preoperative management
o The baby should be free from any oral, respiratory
or systematic infection and should show
satisfactory weight gain.
o The baby is admitted prior to repair.
o The spoon feeding is started with a care not to
injure the oral mucosa.

Contd.
 Other preparation same as other minor operation
o Explanation about the procedure.
o Psychological support.
o Take the written consent.
o Change clean cotton gown.
o Give preoperative medication according to
doctor’s instruction.

Contd..
 Postoperative management
o The foot end of the cot is raised to drain out any
saliva or blood. Close observation of suture site
for sign and symptoms of bleeding.
o The midwife must keep a tray containing a bowel
with sterile saline, clean swabs.
o The midwife must be careful for upper airways
obstruction due to edema.
o Assess vital signs.
o The baby should be sedated early to prevent
tension on the suture line by crying.

Contd..
o Give analgesics according to doctor's instruction.
o Use elbow restraints to maintain suture line
integrity/to prevent trauma on suture side.
o Start feeding 4-6 hours after surgery with sterile
water or 5% dextrose if this tolerated, then given
expressed breast milk by spoon. Arrange sitting
position during feeding.
o The midwife must pay attention to the lip is
cleaned gently.
o Burp frequently.
o Parent should also have adequate instruction of
feeding prior to discharge.

Contd..
Discuss positioning infant upright during feeding
and on side after feeding to prevent aspiration.
Long-term follow up should be done for
orthodontia, speech therapy, and possible hearing
problems and correcting dental abnormalities.
REMEMBER:
Management: Surgical repair, and multidisciplinary
team approach (pediatric, plastic surgeons,
orthodontists, speech and language therapists,
audiologists, midwives, social workers).

Congenital anomalies.pdf

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