CONGENITAL ANOMALIES CONGENITAL ANOMALY CONGENITAL MALFORMATION It includes

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.

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-0 ne 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.

o Amniocentesis at 14 -16 weeks. o Chorionic villi sampling. Maternal serum alpha-feto protein & gonadotrophin. USG. Amniography. Fetoscopy Protein assay, DNA diagnosis Radiography Antenatal screening o o o o 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.

o o o o Maternal and family history Physical examination Biochemical assay Cytogenic study Blood test Hormonal assay Radiography USG o o 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 � G 6 PD 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. 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

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 a. Prospective genetic counseling b. Retrospective genetic counseling

Prospective genetic counseling: o o 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: o o a) b) c) 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 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. � �