CONGENITAL

ANOMALIES
 • It includes all
biochemical,structural and
CONGENITAL functional disorders present at
ANOMALY: the birth.

CONGENITAL • It include only the structural

MALFORMATION: defects present at the birth.
Global incidence - About 30 to 70/1000 live
birth.

In India - 2.5 to 4 %

Most common type of birth defect-CNS

abnormalities(22%)
Advanced maternal age -
(Down’s syndrome).

Consanguinity -
(Mental Retardation).

Maternal malnutrition-
eg.iodine deficiency(MR) &
folic acid deficiency(CNS
Defects).
 A) GENETIC FACTORS:

 Chromosomal abnormalities-eg.Down’s
syndrome
 Single gene disorders
* Autosomal inheritance
.Dominant traits-0ne affected parent
.Recessive traits-Both parents
* X- linked or sex linked inheritance
.Dominant traits-daughter affected
.Recessive traits-son affected
 Polygenic or multifactorial inheritance
.combination of polygenic &
environmental factors
 B) ENVIRONMENTAL:
 Intra uterine infections – STORCH
(Syphilis,Toxoplasmosis,Rubella,cytomegalaovirus and Herpes
Virus)
 Drugs intake during pregnancy -
Steroids,Anticonvulsants,Cocaine,Lithium,etc.,
 X-Ray exposure during pregnancy
 Maternal diseases - DM, CF, endocrine abnormalities , iodine
deficiency, folic acid deficiency, malnutrition.,
 Abnormal intrauterine environment - bicornuate uterus,septed
uterus,polyhydramnios,etc.,
 Maternal addiction - alcohol, tobacco & smoking
 Environmental pollution - air.
o Amniocentesis at 14-16 weeks.
o Chorionic villi sampling.
o Maternal serum alpha-feto
protein & gonadotrophin.
o USG.
o Amniography.
o Fetoscopy
o Protein assay,DNA diagnosis
o Radiography
o Antenatal screening
o Chromosomal abnormalities
and inborn errors of
metabolism
o Cytogenic study
o Neural tube defect & trisomy
o Fetal profile
o Soft tissue abnormalities
o Wellbeing of the fetus
o Maternal disease,metabolic &
endocrine functions.
o Maternal and family
history o Early detection
o Physical examination o Appropriate management
o Biochemical assay
o Cytogenic study
o Blood test
o Hormonal assay
o Radiography
o USG
COMMON

CONGENITAL

ANOMALIES
ANENCEPHALY MENINGOENCEPHALOCELE-
A.Normal spine
B.Spina bifida occulta
C.Meningocele
D.Meningomyelocele
 Meningomyelocele
Meningocele
Hydrocephalus Microcephaly
Macrocephaly Syringomyelia
 OTHERS:
 Agenesisof cranial nerves
 porencephaly
 Ventricular septal defect(VSD)
 Atrial septal defect(ASD)
 Patent ductus arteriosus(PDA)
 Co-arctation of aorta
 Transposition of great vessels
 Tricuspid atresia
 Aortic stenosis
 Pulmonic stenosis
 Fallot’s tetralogy
 Mitral or aortic regurgitation
 Dextrocardia
 Ebstein’s anomaly
Tracheo-esophageal fistula Esophageal atresia
Pyloric stenosis Duodenal atresia
 Hirscprung disease(congenital
Meconium ileus megacolon)
Exomphalos Gastroschisis
Diaphragmatic hernia Umbilical hernia
Femoral hernia Intestinal obstruction
Choanal atresia Pulmonary agenesis
 OTHERS

 Tracheo-esophageal fistula
 Congenital atelectasis
 Congenital stridor
 Congenital cyanosis
Renal agenesis Hydronephrosis
Polycystic kidney Horse shoe kidney
Hypospadias Phimosis
Undescended testis Hydrocele
 OTHERS:

 Posterior Urethral valve(PUV)

 Congenital inguinal hernia
 Malformations of reproductive organs
Club foot(talipes) Club foot-types
Congenital dislocation of hip Dislocated hip baby
Polydactyl Webbed fingers
Amelia and phocomelia
 Hurler syndrome
Marfan syndrome-hand Marfan syndrome-feet
 OTHERS:

 Muscular dystrophy
 Congenital scoliosis
 Osteogenesis imperfecta
 Thalassemia
 Hemophilia
 Sickle cell Anemia
 Congenital spherocytosis
 Cysticfibrosis
 G6PD Deficiency
 Phenylketonuria
 Congenital lactose intolerance
 Glycogen storage diseases
 Wilson’s disease
 Inborn errors of metabolism,etc.,
 Congenital Congenital goiter
hypopituitarism(Dwarfism)
 OTHERS:

 Congenital hypothyroidism(cretinism)
 Congenital adreno genital hyperpalsia
 Diabetes mellitus
 Down’s syndrome(Trisomy-21)
Edward’s syndrome
 OTHERS:

 Turner’s syndrome
 Klinefelter’s syndrome
 Many congenital anomalies  It includes,
do not fit into particular 1.Congenital cataract,
categories of either
2.congenital glaucoma,
metaboli or chromosomal
disorders or to a specific 3.color blindness,
system. 4.congenital deafness,
5.Mental retardation
6.Congenital biliary
 They may found as a atresia,etc
single defect or a
syndrome
Microagnatha Cleft lip
Cleft palate Cleft paalte
 Genetic counseling
• It is a problem solving approach or communication
process in relation to genetic disorders or congenital
anomalies in the family.
• It is non-directive information to the individual or
family who discuss the importance to their own
situations.

• It is of two types.They are

a. Prospective genetic counseling
b. Retrospective genetic counseling
 Prospective genetic counseling:
o It is for true prevention of disease
o It aims at preventing or reducing heterozygous marriage
by screening procedures and explaining the risk of
affected children.

 Retrospective genetic counseling:

o It is done after a hereditary disorder has already
occurred.
o Methods:
a) Contraception
b) MTP
c) Sterilization
 Discourage consanguineous marriages
 Avoid late marriage and pregnancy > 35 years
 Promotion of health of girl child and pre pregnant health
status of the females by prevention of
malnutrition,anemia,folic acid deficiency,iodine
deficiency,etc.
 Encourage the immunization of all female child by MMR.
 Protection of individuals & whole communities against
mutagens (X-ray,drugs ,alcohol)
 Immunization by anti-D immunoglobin to the Rh-negative
mothers after abortion.
 Elimination of active and passive smoking of tobacco by
mothers.
 Avoidance of drug intake without consulting physician
in the first trimester of pregnancy.
 Prevention of intrauterine infections and promotion of
sexual hygiene.
 Efficient antenatal care.
 Promotion of therapeutic abortion after prenatal
diagnosis.
 Discouraging reproduction after birth of a baby with
congenital anomalies.
 Increasing public awreness about the risk factors and
etiological factors of congenital anomalies and their
preventive measures.