CONGENITAL ANOMALIES
CONGENITAL ANOMALY:
CONGENITAL MALFORMATION:
• It includes all biochemical,structural and functional disorders present at the birth.
• It include only the structural defects present at the birth.
CONGENITAL ANOMALY:
CONGENITAL MALFORMATION:
• It includes all biochemical,structural and functional disorders present at the birth.
• It include only the structural 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 malnutritioneg.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.
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Amniocentesis at 14-16 weeks. Chorionic villi sampling. Maternal serum alpha-feto protein & gonadotrophin. USG. Amniography.
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Fetoscopy Protein assay,DNA diagnosis Radiography
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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
Maternal disease,metabolic & endocrine functions.
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Maternal and family history Physical examination Biochemical assay Cytogenic study Blood test Hormonal assay Radiography USG
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Early detection Appropriate management
COMMON CONGENITAL ANOMALIES
ANENCEPHALY
MENINGOENCEPHALOCELE-
A.Normal spine B.Spina bifida occulta C.Meningocele D.Meningomyelocele
Meningocele
Meningomyelocele
Hydrocephalus
Microcephaly
Macrocephaly
Syringomyelia
OTHERS:
Agenesis of 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
Meconium ileus
Hirscprung disease(congenital 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
Cystic fibrosis
G6PD Deficiency
Phenylketonuria
Congenital lactose intolerance
Glycogen storage diseases
Wilson’s disease
Inborn errors of metabolism,etc.,
Congenital hypopituitarism(Dwarfism)
Congenital goiter
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 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
They may found as a single defect or a syndrome
6.Congenital biliary atresia,etc
Microagnatha
Cleft lip
Cleft palate
Cleft paalte
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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
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Prospective genetic counseling
b.
Retrospective genetic counseling
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a) b) c)
Prospective genetic counseling: It is for true prevention of disease It aims at preventing or reducing heterozygous marriage by screening procedures and explaining the risk of affected children.
Retrospective genetic counseling: It is done after a hereditary disorder has already occurred. Methods: Contraception MTP 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.
