Congenital Anomalies Ppt
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Transcript of Congenital Anomalies Ppt
CONGENITAL ANOMALIES
DEFINITIONS
•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:
INCIDENCE
Global incidence - About 30 to 70/1000 live birth.
In India - 2.5 to 4 %
Most common type of birth defect-CNS abnormalities(22%)
RISK FACTORS:
Advanced maternal age -(Down’s syndrome).
Consanguinity -(Mental Retardation).
Maternal malnutrition-eg.iodine deficiency(MR) & folic acid deficiency(CNS Defects).
ETIOLOGY:
ETIOLOGY: 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
ETIOLOGY: 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.
DIAGNOSTIC APPROACHES
1) PRENATAL DIAGNOSIS
2) POSTNATAL DIAGNOSIS
PRENATAL DIAGNOSIS:
@ DIAGNOSIS @o Amniocentesis at 14-16
weeks.
o Chorionic villi sampling.o Maternal serum alpha-feto
protein & gonadotrophin.o USG.o Amniography.o Fetoscopyo Protein assay,DNA
diagnosiso Radiographyo Antenatal screening
@ PURPOSE @o Chromosomal
abnormalities and inborn errors of metabolism
o Cytogenic studyo Neural tube defect &
trisomyo Fetal profileo Soft tissue abnormalitieso Wellbeing of the fetus
o Maternal disease,metabolic & endocrine functions.
POSTNATAL DIAGNOSIS:
@ DIAGNOSIS @
o Maternal and family history
o Physical examinationo Biochemical assayo Cytogenic studyo Blood testo Hormonal assayo Radiographyo USG
@ PURPOSE @
o Early detection o Appropriate
management
COMMON CONGENITAL ANOMALIES
CENTRAL NERVOUS SYSTEM
ANENCEPHALYMENINGOENCEPHALOCEL
E-
CENTRAL NERVOUS SYSTEMA.Normal spineB.Spina bifida occultaC.MeningoceleD.Meningomyelocele
CENTRAL NERVOUS SYSTEM
Meningocele Meningomyelocele
CENTRAL NERVOUS SYSTEM
Hydrocephalus Microcephaly
CENTRAL NERVOUS SYSTEM
Macrocephaly Syringomyelia
CENTRAL NERVOUS SYSTEM
OTHERS: Agenesis of cranial nerves porencephaly
CONGENITAL HEART DISEASES 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
CONGENITAL HEART DISEASES Ebstein’s anomaly
GI SYSTEM ABNORMALITIES
Tracheo-esophageal fistula
Esophageal atresia
GI SYSTEM ABNORMALITIES
Pyloric stenosis Duodenal atresia
GI SYSTEM ABNORMALITIES
Meconium ileus Hirscprung disease(congenital megacolon)
GI SYSTEM ABNORMALITIES
Exomphalos Gastroschisis
GI SYSTEM ABNORMALITIES
Diaphragmatic hernia Umbilical hernia
GI SYSTEM ABNORMALITIES
Femoral hernia Intestinal obstruction
RESPIRATORY SYSTEM ABNORMALITIES
Choanal atresia Pulmonary agenesis
RESPIRATORY SYSTEM ABNORMALITIES
OTHERS
Tracheo-esophageal fistula Congenital atelectasis Congenital stridor Congenital cyanosis
GENITOURINARY SYSTEM ABNORMALITIES
Renal agenesis Hydronephrosis
GENITOURINARY SYSTEM ABNORMALITIES
Polycystic kidney Horse shoe kidney
GENITOURINARY SYSTEM ABNORMALITIES
Hypospadias Phimosis
GENITOURINARY SYSTEM ABNORMALITIES
Undescended testis Hydrocele
GENITOURINARY SYSTEM ABNORMALITIES
OTHERS:
Posterior Urethral valve(PUV) Congenital inguinal hernia Malformations of reproductive organs
MUSCULOSKELETAL ABNORMALITIES
Club foot(talipes) Club foot-types
MUSCULOSKELETAL ABNORMALITIES
Congenital dislocation of hip
Dislocated hip baby
MUSCULOSKELETAL ABNORMALITIES
Polydactyl Webbed fingers
MUSCULOSKELETAL ABNORMALITIES
Amelia and phocomelia
MUSCULOSKELETAL ABNORMALITIES
Hurler syndrome
MUSCULOSKELETAL ABNORMALITIES
Marfan syndrome-hand Marfan syndrome-feet
MUSCULOSKELETAL ABNORMALITIES
OTHERS:
Muscular dystrophy Congenital scoliosis Osteogenesis imperfecta
BLOOD DISORDERS
Thalassemia Hemophilia Sickle cell Anemia Congenital spherocytosis
METABOLIC DISORDERS
Cystic fibrosis G6PD Deficiency Phenylketonuria Congenital lactose intolerance Glycogen storage diseases Wilson’s disease Inborn errors of metabolism,etc.,
ENDOCRINE ABNORMALITIES
Congenital hypopituitarism(Dwarfism)
Congenital goiter
ENDOCRINE ABNORMALITIES
OTHERS:
Congenital hypothyroidism(cretinism) Congenital adreno genital hyperpalsia Diabetes mellitus
CHROMOSOMAL ABNORMALITIES
Down’s syndrome(Trisomy-21)
CHROMOSOMAL ABNORMALITIES
Edward’s syndrome
CHROMOSOMAL ABNORMALITIES
OTHERS:
Turner’s syndrome Klinefelter’s syndrome
MISCELLANEOUS 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
MISCELLANEOUS
Microagnatha Cleft lip
MISCELLANEOUS
Cleft palate Cleft paalte
PREVENTION: 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
GENETIC COUNSELING: Prospective genetic counseling:o It is for true prevention of diseaseo 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
PREVENTION:
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.
PREVENTION: 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.