CONGENITAL ANOMALIES

CONGENITAL ANOMALY:

It includes all biochemical,structural and functional disorders present at the birth.

CONGENITAL MALFORMATION:

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 (Downs syndrome).

Consanguinity (Mental Retardation).

Maternal malnutritioneg.iodine deficiency(MR) & folic acid deficiency(CNS Defects).

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

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 Fallots tetralogy Mitral or aortic regurgitation Dextrocardia

Ebsteins 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 Wilsons disease Inborn errors of metabolism,etc.,

Congenital hypopituitarism(Dwarfism)

Congenital goiter

 OTHERS:
Congenital

hypothyroidism(cretinism) Congenital adreno genital hyperpalsia Diabetes mellitus

Downs syndrome(Trisomy-21)

Edwards syndrome

 OTHERS:
Turners

syndrome Klinefelters 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 Prospective genetic counseling Retrospective genetic counseling

a. b.


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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.

o o a) b) c)

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.