2. • It includes all
biochemical,structural and
functional disorders present at
the birth.
CONGENIT
AL
ANOMALY:
• It include only the structural
defects present at the birth.
CONGENITAL
MALFORMA
TION:
3. Global incidence - About 30 to 70/1000 live
birth.
In India - 2.5 to 4 %
Most common type of birth defect-CNS
abnormalities(22%)
9. 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
,DNAdiagnosis
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.
10. o Maternal and family
history
o Physical examination
o Biochemical assay
o Cytogenic study
o Blood test
o Hormonal assay
o Radiography
o USG
o Early detection
o Appropriate management
47. ⦿Many congenital anomalies
do not fit into particular
categories of either
metaboli or chromosomal
disorders or to a specific
system.
⦿They may found as a
single defect or a
syndrome
⦿It includes,
1.Congenital cataract,
2.congenital glaucoma,
3.color blindness,
4.congenital deafness,
5.Mental retardation
6.Congenital biliary
atresia,etc
50. ⦿ 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
51. 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
52. ⦿ 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.
53. ⦿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.