Congenital anomalies include structural, functional, and biochemical disorders present at birth. The global incidence is 30-70 per 1000 live births, and in India it is 2.5-4%. Genetic and environmental factors can cause congenital anomalies. Genetic counseling provides information to families about genetic disorders and helps prevent transmission of hereditary conditions. Measures to prevent congenital anomalies include promoting pre-pregnancy health, immunizations, avoiding teratogens and infections during pregnancy, and prenatal screening and diagnosis.
2. • It includes all
biochemical,structural and
functional disorders present at
the birth.
CONGENITAL
ANOMALY:
• It include only the structural
defects present at the birth.
CONGENITAL
MALFORMATION:
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,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.
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.