GOVERNMENT AYURVED COLLEGE NAGPUR

DEPARTMENT OF BALROG

CONGENITAL ANOMALIES IN CHILDRENS

Presented ByPrashant

NagreKomal Mishra

Guided byVd.Nikam Mam

Vd.Shriwas Mam

A congenital anomaly is a structural abnormality of any type that is present at birth.

Congenital anomalies may be induced by genetic or environmental factors. Most common congenital anomalies, however, show the family patterns expected of multifactorial inheritance (determined by a combination of genetic and environmental factors).

About 3% of all liveborn infants have an obvious major anomaly.

The incidence is about 6% in 2-year-olds and 8% in 5-year-olds.

Congenital anomalies may be single or multiple and of

minor or major clinical significance.

During the first 2 weeks of development, teratogenic agents usually kill the embryo or have no effect.

During the organogenesis period (3rd – 8th weeks), teratogenic agents disrupt development and may cause major congenital anomalies.

During the fetal period (9th week – 9th month) teratogens may produce morphological and functional abnormalities, particularly of the brain and eyes.

Causes of congenital anomalies;

1-Genetic factors such as chromosomal abnormalities and mutant genes.

2-Environmental factors e.g.: the mother had German measles in early pregnancy will cause abnormality in the embryo.

3-Combined genetic and environmental factors (mutlifactorials factors).

Types of abnormalities

Malformations: this occurs during the formation of the structures of the organ (during organogenesis) results in partial or complete non formation or alterations in the normal structure. This occurs in the 3rd to the 8th week of gestation. Ex. Cleft lip and or cleft palate.

Disruptions: results in morphological change of the already formed structure due to exposure to destructive process. e.g.: vascular accidents leading to intestinal atresia, amniotic band disruption.

Deformations: due to mechanical forces that affect a part of the fetus over a long period. Ex: talipes equinovarus deformity.

Syndrome: is a group of anomalies occurring together due to a common cause .

The genetic factors leading to congenital anomalies may be due to chromosomal abnormalities, gene mutations or may be multifactorial..

Chromosomal abnormalities occur due to: - late maternal age at the time of pregnancy

(leads to chromosomal non-disjunction), - radiation (causes chromosome deletions,translocations or

breaks), - viruses as German measles, - autoimmune diseases, - and some chemical agents as anti-biotic drugs.

Syndrome examples

• CHARGE– Colobomas– Heart defects– Atresia of the choanae – Retarded growth– Genital anomolies– Ear anomalies

• VACTERL– Verterbral anomalies (A)– Anal A– Cardiac A– Tracheoesophageal A – Renal A– Limb A

Environmental factors

• Infectious agents

• Radiation

• Chemical Agents

• Hormones

• Maternal Disease

• Nutritional Deficiencies

• Hypoxia

Infectious Agents• Rubella (German Measles)

– Malformations of the eye• Cataract (6th week) • Microphthalmia

– Malformations of the ear (9th week)• Congenital deafness

– Due to destruction of cochlea– Malformations of the heart (5th -10th week)

• Patent ductus arteriosis• Atrial septal defects• Ventricular septal defects

Infectious Agents (cont.)• Rubella (German measles)

– May be responsible for some brain abnormalities• Mental retardation

– Intrauterine growth retardation– Myocardial damage– Vascular abnormalites– Incidence

• 47%- during 1st four weeks• 22% - 5th – 8th weeks• 13% - 9th – 16th week

Infectious Agents (cont.)• Cytomegalovirus

– Disease is often fatal early on– Malformations

• Microcephaly– Cerebral calcifications– Blindness

• Chorioretinitis– Kernicterus (a form of jaundice)

– multiple petechiae of skin

– Hepatosplenomegaly

Infectious Agents (cont.)• Herpes Simplex Virus

– Intrauterine infection of fetus occasionally occurs– Usually infection is transmitted close to time of delivery– Abnormalities (rare)

• Microcephaly• Microphthalmos• Retinal dysplasia• Hepatosplenomegaly• Mental retardation

– Usually child infected by mother at birth• Inflammatory reactions during first few weeks

Infectious Agents (cont.)• Varicella (chickenpox)

– Congenital anomalies • 20% incidence following infection in 1st trimester• Limb hypoplasia• Mental retardation• Muscle atrophy

• HIV/AIDS– Microcephaly– Growth retardation– Abnormal facies (expression or appearance of the face)

Infectious Agents (cont.)• Toxoplamosis

– Protozoa parasite (Toxoplama gondii)• Sources

– Poorly cooked meat– Domestic animals (cats)– Contaminated soil with feces

• Syphilis– Congenital deafness– Mental retardation– Diffuse fibrosis of organs (eg. liver & lungs)

• In general most infections are pyrogenic– Hyperthemia can be teratogenic

• Fever

Radiation• Teratogenic effect of ionizing radiation well established

– Microcephaly– Skull defects– Spina bifida– Blindness– cleft palate– Extremity defects

• Direct effects on fetus or indirect effects on germ cells

• May effect succeeding generations

• Avoid X-raying pregnant women

Chemical agents/Drugs• Role of chemical agents & drugs in production of anomalies is

difficult to assess– Most studies are retrospective

• Relying on mother’s memory– Large # of pharmaceutical drugs used by pregnant women

• NIH study – 900 drugs taken by pregnant women– Average of 4/woman during pregnancy– Only 20% of women use no drugs during pregnancy

– Very few drugs have been positively identified as being teratogenic

Drugs

• Thalidomide– Antinauseant & sleeping pill– Found to cause amelia & meromelia

• Total or partial absence of the extremities– Intestinal atresia– Cardiac abnormalities– Many women had taken thalidomide early in pregnancy (in

Germany in 1961)

Drugs (cont.)

• Aminoteptrin– Antagonist of Folic Acid– Antineoplastic agent which inhibits mitosis– Defects

• Anencephaly• Meningocele• Hydrocephalus• Cleft lip & palate

Drugs (cont.)• Anticonvulsants (to treat epilepsy)

– Diphenylhydantoin (phenytoin)• Craniofacial defects• Nail & digital hypoplasia• Growth abnormalities• Mental deficiency• The above pattern is know as “fetal hydantoin

syndrome”– Valproic acid

• Neural tube defects• Heart defects• Craniofacial & limb anomalies

Drugs (cont.)• Antipsychotic drugs (major tranquilizers)

– Phenothiazine & lithium• Suspected teratogenic agents

• Antianxiety drugs (minor tranquilizers)– Meprobamate, chlordiazepoxide,

• Severe anomalies in 11-12% of offspring where mothers were treated with the above compared to 2.6% of controls

– diazepam (valium)• Fourfold in cleft lip with or without cleft palate

Drugs (cont.)• Anticoagulants

– Warfarin (A.K.A cumadin or cumarol)• Teratogenic• Hypoplasia of nasal cartilage• Chondrodysplasia• Central nervous system defects

– Mental retardation– Atrophy of the optic nerves

• Antihypertensive agents– angiotensin converting enzyme (ACE) inhibitor

• Growth dysfunction, renal dysfunction, oliogohydramnios, fetal death

Drugs (cont)• Propylthiouracil

– Goiter– Mental retardation

• Potassium iodide– Goiter– Mental retardation

• Streptomycin– deafness

• Sulfonamides– kernicterus

• Imipramine (antidepr.)– Limb deformaties

• Tetracyclines– Bone & tooth anomalies

• Amphetamines– Oral clefts– CV abnormalities

• Quinine– Deafness

• Aspirin– Potentially harmful in large

doses

Alcohol• Relationship between alcohol consumption & congenital

abnormalities• Fetal alcohol syndrome

– Craniofacial abnormalities• Short palpebral fissures• Hypoplasia of the maxilla

– Limb deformities• Altered joint mobility & position

– Cardiovascular defects• Ventricular septal abnormalites

– Mental retardation– Growth deficiency

Cigarette Smoking

• Has not been linked to major birth defects– Smoking does contribute to intrauterine growth retardation

& premature delivery– Some evidence that is causes behavioral disturbances

Hormones• Androgenic Agents

– Synthetic progestins were used frequently to prevent abortion• Ethisterone & norethisterone

– Have considerable androgenic activity» Masculinization of female genitalia

• Diethylstilbesterol– Commonly used in the 1940’s & 1950’s to prevent

abortion; in 1971 determined that DES caused increased incidence of vaginal & cervical cancer in women who had been exposed to DES in utero

– In addition high % suffered from reproductive dysfunction

• Oral Contraceptives– Low teratogenic potential, discontinue if pregnancy

suspected• Cortisone-cleft palate in mice (not humans)

Digestive system anom.)Cleft lip/palate

• Incidence: about 1 in 600 live births• Cleft lip with or without cleft palate• Syndromic: associated with another syndrome. Syndromic

cleft lip/palate is more common in males• Nonsyndromic: isolated finding, not associated with any

particular syndrome. Non syndromic tends to be equal between males and females.

• Consider submucous cleft palate with bifid uvula

Cleft lip/palate

Tongue Tie (Ankylogossia)

Gastroschisis

Omphalocele

Esophagial fistula,Hirschsprungs dis,

imperforated anus,intestinal atresia

Nervous systemAncephalous

Spina bifida

HYDROCEPHALUS&MICROCEPHALUS

EYE

Anopthalmos&blue sclera,cloboma

congenital catracrt ,cystic eye ball,dermoid,micropthalmia

EARAccessary

auricle,micro&macrotia,Periauricular sinus

CVS Anomelies

• Tetralogy of fallot• VSD• ASD• Stenosis of arotic

valve

Respiratory anomelies

Tracheoesophageal fistula&cyst of lung

Renal anomeliesPolycystic kidney ,Horshoe kidney

,Renal dysplasias

Bladder exstrophy

Genital systemBicornuate

Uterus&hypo&epispadia

Ambiguous genitalia

Congenital hydrocele &hernia

Limbs anomelies

Polydactyl,syndactyly,ectrodactyly

Phocomelia syndrome,meromalia

Club Foot

Twin-Twin Transfusion Syndrome

Ambras syndrome

Craniopagus parasiticus

Fibrodysplasia ossificans progressiva

Progeria

Cystic hygroma

Sacrococcygeal teratoma

Hemangioma

Prevention of birth defects

• Good prenatal care• Iodine supplementation eliminates mental retardation & bone

deformities– Prevent cretinism

• Folate/Folic Acid supplementation– incidence of neural tube defects

• Avoidance of alcohol & other drugs during all stages of pregnancy– incidence of birth defects

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