CONGENITAL MALFORMATION

congenital malformations
Introduction
Congenital anomalies are major causes
Of still birth and neonatal death

Major congenital malformations occur in

approximately 3 to 4 percent of live birth

Birth defects can be isolated or present in a

characteristic combination.
 Most common single defects are
congenital hip dislocation
club foot
cleft lip
cleft palate
cardiac septal defect
defect in neural tube closure
 In ancient times, birth defects were believed to be
result from the action of supernatural

Definition
Malformations
 Malformations are defects of organs or body
parts due to an intrinsically abnormal
developmental process.
 structure is not formed, is partially formed, or
is formed in an abnnormal fashion.

 Malformations often result from a defect in

embryonic development
except-CNS,genitalia.teeth…

 Malformations can be classified as major and

minor.
major malformation
 are those that have medical and/or social
implications
 These often require surgical repair.
eg. the neural tube defects such as meningomyelocele
or orofacial clefting (cleft lip and palate), are common major
malformations
Minor malformation
 have mostly cosmetic significance. They rarely are

medically significant or require surgical intervention.

 They represent part of the normal variation in the

general population.

 Minor anomalies are common

 Approximately 50 percent of minor
anomalies are located in the head and neck

 Infants with three or more minor anomalies

are at increased risk of having a major defect
or syndrome.(20%)

eg. clinodactyly (incurving of the fifth

finger), and single transverse palmar creases
Deformation
 are abnormalities of the position of body
parts due to mechanical forces that modify a
normally formed structure
Intrinsic or extrinsic factors
 often can be corrected by management
eg. clubfoot, congenital dysplasia of the hip, and
plagiocephaly (lopsided or flattened skull due to compression).
Disruption
 Are defects of organs or body parts that result

from destruction of or interference by external

factor with normal development
 two mechanism
 amniotic band
 Interruption of blood supply
Patterns of Defects
 Syndrome

is a pattern of anomalies that occur together and

are pathogenetically related.
eg.Down syndrome
 Sequence

is a pattern of anomalies in which a single known

defect in development causes a cascade of subsequent
abnormalities
eg. Potter sequence
 Developmental field defect
is a pattern of anomalies caused by disturbance of a region of
the embryo that develops in a contiguous physical space.
eg. Bladder exstrophy and cloacal exstrophy
 Association 
is defined as two or more anomalies that are not
pathogenetically related and occur together more frequently
than expected by chance.
In general, the etiology of associations is not defined.
eg.VATER/VACTERL
ETIOLOGY
 Not known — 43.1 percent
 Multifactorial — 22.8 percent
 Familial — 14.4 percent
 Chromosomal — 10.1 percent
 Single gene — 4.1 percent
 Teratogen — 4.1 percent
Maternal illness
Maternal infection
Drug
Envt agent(physical,chemical)
 Uterine factor
 Nutrition
TERATOGENS
 is an agent that can cause abnormalities in the form or
function of a developing fetus.
 Approximately 4 to 6 percent of birth defects are
caused by exposure to teratogens in the envt
 include maternal illnesses (eg, diabetes mellitus or
PKU), infectious agents (eg, TORCH infections),
physical agents (eg, radiation or heat exposure), and
drugs (eg, thalidomide, antiepileptic drugs) and
chemical agents (eg, mercury).
 Depends on maternal genotype, fetal genotype, the
dose of the agent, route of exposure, timing of
exposure, and concurrent exposures or illnesses
during gestation.
 Types
 Chemical Retinoic acid Hydrocephalus, microtia, CNS
migrations defects
Thalidomide Limb reduction defects
Valproic acid Neural tube defects
Phenytoin Dysmorphic features, nail
hypoplasia,
heart defects
Lithium Ebstein anomaly
ACE inhibitors Renal and skull defects
Misoprostol Fetal death, vascular disruptions
(eg, terminal transverse limb defects)

DES Cervical cancer in female progeny

 Physical Ionizing Radiation Fetal death,
growth retardation
Hyperthermia Microcephaly, MR,
seizures
 Biological Cytomegalovirus Microcephaly, MR
Toxoplasmosis Microcephaly, MR
Rubella Microcephaly, MR
MaternalDiabetes CHD, NTD, sacral
anomalies,
Phenylketonuria Microcephaly, CHD, MR
 Major malformations

 Head and craniofacial structures

Skull
Anencephaly
Encephalocele (occipital, frontal)
Holoprosencephaly
Hydrocephaly
Eyes
Microphthalmia
Anophthalmia
Colobomas (iris, retina)
Ears
Severe microtia
 Mouth and throat
Cleft lip*
Cleft palate*
Severe micrognathia (Robin sequence)
Macro or microglossia
 Neck
Cystic hygroma
 Chest
Pectus excavatum
Absent or hypoplastic clavicles
 Back
Meningomyelocele
Spina bifida
 Abdomen
Omphalocele
Gastrochisis
 Genitalia
Ambiguous genitalia
 Extremities
Arms
Absent or limb deficiencies
 Hands and feet
Polydactyly, complete syndactyly, polysyndactyly
Absent digits
Ectrodactyly

Cardiovascular and great vessels*
Tetralogy of Fallot
Truncus arteriosus
Hypoplastic left heart
Ventricular or atrial septal defect
Transposition of the great vessels
Interrupted aortic arch type B
Total anomaly of pulmonary venous return
Hypoplasia or coarctation of the aorta
 Neural tube defects (NTDs)
 INCIDENCE
depends upon ethnic, geographic, and nutritional
factors.
It usually ranges from one to seven per 1000 live
births
Girls are affected more often than boys.
For a woman delivered of a child with
myelomeningocele, the risk of recurrence in
subsequent pregnancies is 2.5 percent (about 20 times
the rate in the general populati
TYPES OF NTDS
open NTD
closeNTD
spinalNTD
Spina bifida — Spina bifida refers to a cleft in
the spinal column.
 Meningocele
 meningomyelocele or myelomeningocele
 Cranial defects
Anencephaly
Exencephaly
Encephalocele
 ETIOLOGY AND RISK FACTORS
Folic acid deficiency
Environmental factors
Drugs-valproic acid, carbamazepine,
folic acid antagonists
DM
Genetic factors
 Screening
maternal AFP
Diagnosis
u/s
amniotic AFP
Management principle
counseling
abc
surgery
 orofacial clefts
 Include:
1, Unilateral cleft lip
2,Unilateral cleft lip and palate
3,Bilateral cleft lip and palate
4,Isolated cleft palate
 Prevalence
cleft lip with cleft palate 50%
cleft lip 25%
cleft palate 25%
• CL/P is more common than CP and varies by ethnicity
• CL/P high in Native Americans and Asians (1/500
newborns), low in American blacks (1/2000
newborns), and at an intermediate level in Caucasians
(1/1000 newborns).

• isolated CP occurs in only 1/2500 newborns and

does not display variation by ethnicity.
• 85 percent of bilateral cleft lips and 70 percent of
unilateral cleft lip are associated with cleft palate
 Etiolgy
 genetic defects
 Environmental agents
Medications 
Cigarette smoking
Alcohol 
Folate deficiency 
 Management principle
feeding mgt
surgical repair
speech therapy
orthodontic therapy
Thank you