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CONGENITAL ANOMALY:
CONGENITAL MALFORMATION:
In India - 2.5 to 4 %
A) GENETIC FACTORS:
Chromosomal abnormalities-eg.Downs 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.
Amniocentesis at 14-16 weeks. Chorionic villi sampling. Maternal serum alpha-feto protein & gonadotrophin. USG. Amniography. Fetoscopy Protein assay,DNA diagnosis Radiography Antenatal screening
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Chromosomal abnormalities and inborn errors of metabolism Cytogenic study Neural tube defect & trisomy Fetal profile Soft tissue abnormalities Wellbeing of the fetus
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Maternal and family history Physical examination Biochemical assay Cytogenic study Blood test Hormonal assay Radiography USG
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COMMON CONGENITAL
ANOMALIES
ANENCEPHALY
MENINGOENCEPHALOCELE-
Meningocele
Meningomyelocele
Hydrocephalus
Microcephaly
Macrocephaly
Syringomyelia
OTHERS:
Agenesis
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 Fallots tetralogy Mitral or aortic regurgitation Dextrocardia
Ebsteins anomaly
Tracheo-esophageal fistula
Esophageal atresia
Pyloric stenosis
Duodenal atresia
Meconium ileus
Exomphalos
Gastroschisis
Diaphragmatic hernia
Umbilical hernia
Femoral hernia
Intestinal obstruction
Choanal atresia
Pulmonary agenesis
OTHERS
Tracheo-esophageal
Renal agenesis
Hydronephrosis
Polycystic kidney
Hypospadias
Phimosis
Undescended testis
Hydrocele
OTHERS:
Club foot(talipes)
Club foot-types
Polydactyl
Webbed fingers
Hurler
syndrome
Marfan syndrome-hand
Marfan syndrome-feet
OTHERS:
Cystic
fibrosis G6PD Deficiency Phenylketonuria Congenital lactose intolerance Glycogen storage diseases Wilsons disease Inborn errors of metabolism,etc.,
Congenital hypopituitarism(Dwarfism)
Congenital goiter
OTHERS:
Congenital
Downs syndrome(Trisomy-21)
Edwards syndrome
OTHERS:
Turners
Many congenital anomalies do not fit into particular categories of either metaboli or chromosomal disorders or to a specific system.
It includes, 1.Congenital cataract, 2.congenital glaucoma, 3.color blindness, 4.congenital deafness, 5.Mental retardation 6.Congenital biliary atresia,etc
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 Prospective genetic counseling Retrospective genetic counseling
a. b.
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o o a) b) c)
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.