CONGENITAL & HEREDITARY DISEASES

CONGENITAL & HEREDITARY DISEASES

Intrauterine Injury

common causes

Maternal infections

TORCH complex

HIV

Babies with weakened immune system

can get infections and certain types of cancer that a healthy babies would normally be able to fight off.

Vertical transmission of human immunodeficiency virus (HIV) from the infected mother to the child

after birth

breastfeeding

before birth

a virus that attacks the body's immune system

Cytomegalic Inclusion Disease (CID)

injury to the fetal brain and eyes

blindness

mental retardation

How

caused by cytomegalovirus affecting a pregnant or immune weakened individual

What

an infection that is largely asymptomatic

Rubella

chronic progressive infection

infection progress faster than normal

neurological disturbances

congenital deafness

loss of hearing at birth or may develop later

congenital cardiac malformations

defects or anomalies of the heart since birth

congenital cataracts

Rubella virus (Rubivirus rubellae)

a mild illness acquired in childhood

Others

herpes simplex virus

infant mortality

death of an infant before the first birthday

intrauterine fetal anemia

amount of red blood cells in a fetus fall below normal levels.

intrauterine fetal death

baby died inside uterus before birth

microcephaly

skin and eye lesions

transmitted from infected mother to fetus

a sexually transmitted infection

Toxoplasmosis

Causes

encephalitis — inflammatory disorder of brain

congenital epilepsy

congenital blindness

How?

eating raw or partially cooked meat infected with the parasite

feces of infected animals

What?

infection during pregnancy is a major risk factor

Young women show low rates of immunity

a parasitic infection caused by Toxoplasma gondii

Radiation

Increase chance of cancer in later life

Abnormal brain function

Fetal abnormalities

Fetus with stunted growth

fetuses with an age greater than fifteen weeks have a lower radiation sensitivity

an increased rate of development of childhood leukemia

vulnerable especially the first fifteen weeks of fetal development

exposure of a pregnant woman may harm the fetus

Drugs and Chemicals

Alcoholic beverages

the level of alcohol consumption that puts a fetus at risk is controversial

severe drinking problem

should be cautioned not to become pregnant until their alcoholism is controlled

fetal alcohol syndrome

congenital malformations affecting the genital tract and cardiovascular system

abnormal cranial and facial development

physical and mental retardation

Drugs

Intrauterine fetal demise (IUFD)

disturb blood flow through the placenta causing fetal death

Neonatal abstinence syndrome (NAS)

Impaired fetal growth

addiction in both the fetus and the mother

Many new drugs/antibiotics have unknown possible effects

Narcotics usage such as heroin, methadone, cocaine, codeine, morphine etc

Cigarettes

causes

Decrease amount of oxygen to the baby

sudden infant death syndrome (SIDS)

unexplained death of a child under the age of one year

premature births

birth of smaller than normal infants

Intrauterine growth retardation (IUGR)

FDA "Degree of Possible Risk to the Fetus"

Cat X

Severe risk to fetus greatly outweighs any possible benefit to patients

Absolutely contraindicated in pregnancy

Cat D

Potential benefit to patients outweighs risk to fetus

No safer alternative drug is available

Positive evidence of risk to fetus

Cat C

No human studies available to assess risk

Risk to fetus cannot be ruled out

Cat B

no adequate human studies

No risk to fetus based on animal studies

Cat A

No risk to fetus in well-controlled studies in humans.

what?

3rd - 8th week after conception

most vulnerable to injurious effects of environmental agents

injury to the developing embryo

uterine = uterus

intra = within

Objectives

Understand the methods for diagnosing congenital abnormality.

List abnormalities of sex chromosomes and describe their clinical manifestations.

Describe common genetic abnormalities and their methods of transmission.

List the causes of Down syndrome and describe its clinical manifestations.

Describe the role of chromosome abnormalities in congenital disease.

Describe examples of intrauterine malformations and its common causes

What is congenital disease?

any abnormality present at birth

type

minor

cosmetics significance

examples

Polydactyly

Central

Any other fingers

Post

Pinky finger

Pre

Thumb

Cleft Lip

>10% live birth

major

create significant medical problems for the patient

extrinsic

e.g. Fetal disruptions

oligohydramnios (lack of amniotic fluid)

fetal deformation due to compression or mispositioning

intrinsic defects of development

majority of congenital diseases

e.g. mistakes in the genome

maybe genetic, environmental or both

may not be detected at birth