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.