Birth Defects Birth Defects

Birth Defects

• Serious problems some babies are born with that threaten their health or ability to live

• 3/100 U.S. children have a birth defect

Environmental Causes

1. Mother’s diet

2. Diseases or infections of mother during pregnancy

3. Harmful substances – alcohol, tobacco, drugs used by mother

4. Medicine

5. Radiation

Hereditary Causes

• A dominant defective gene is passed from one parent– parent carries and has trait

• A recessive defective gene is passed from each parent– parent carries but do not have trait

Errors in Chromosomes

• Too many or too few chromosomes

• A child with Down Syndrome has an extra chromosome #21

• Occurs 1 in 800 births

• Risk increases if mother is over age 35

Hereditary Birth DefectsHereditary Birth Defects

Cerebral Palsy

Causes problems of the motor system

Cleft Lip – Cleft Palate

• A gap in the upper lip or palate• Can be corrected with surgery

Cystic Fibrosis

Affects the respiratory and digestive systems

Down Syndrome

• An extra #21 chromosome• Results in: – Intellectual disability– Physical growth delays– Characteristic facial features

Muscular Dystrophy

Progressive weakness and shrinking of the muscles

PKU - Phenylketonuria

•Inability to process a specific protein•A blood sample is taken from newborns for testing

Sickle Cell Anemia

Malformed red blood cells interfere with supplying oxygen to the body

Spina Bifida

• Incompletely formed spinal cord

• Folic Acid (in multivitamin or pill-form) reduces incidences of Spina Bifida by 70%

Tay-Sachs Disease

• Lacks a chemical in blood making body unable to process and use fats

• The condition leads to brain damage and death, usually by age 4

Hemophilia

A rare bleeding disorder in which the blood doesn't clot normally.

Club Foot

• Foot appears to have been rotated internally at the ankle

• With treatment, the vast majority of patients recover completely during early childhood

Dwarfism

Dwarfism can be caused by over 200 distinct medical conditions

Environment Related Environment Related Birth Defects Birth Defects

Environment Related Birth Defects

• Harm to the baby varies greatly:– What substance was taken by mother– How much and how often it was taken– The stage of development of the baby

Fetal Alcohol Syndrome

Physical and mental problems for the baby resulting from the mother drinking alcohol while pregnant

Tobacco/Nicotine

The more a mother smokes,the smaller her baby is likely to be

Inhalants

• Fumes that are inhaled into the lungs

Illegal Drugs

• Heroin

• LSD

• Marijuana

• Cocaine

• Methamphetamines

Effects of Thalidomide

• Once prescribed in the 1950’s as a sleeping aide

• Babies were born without limbs and with organ defects

Caffeine

• Increase baby's heart rate• Baby may have lower birth weight

Prescription Drugs

X Rays

Radiation can cause birth defects

Rubella (German Measles)

• If a mother is infected while pregnant– Cause miscarriage, preterm birth, or stillbirth– Can result in deafness, blindness, heart disease, or mental

retardation of baby

• A vaccine is available

Sexually Transmitted Diseases

• Syphilis

• Gonorrhea

• Hepatitis B

• Genital Herpes

• AIDS

Premature Babies

Uncommon Birth DefectsUncommon Birth Defects

Mermaid Syndrome

If the mother during pregnancy has:

•A major illness•Physical/mental stress•Excessive exposure to radiation •An inherited genetic disorders•Inadequate prenatal care

• 1 in 70,000 births

Shiloh Pepin

• Surgery- not an option

• She had a partially working kidney, no lower colon, and no genital organs.

• Died at age 10 of pneumonia

Ambras Syndrome

• Excessive hair over the face and body

• Only 40 known cases at the current time

Cyclopia

• One eye in the middle of their head

• Related to cancer treatment drugs taken by pregnant women

Foetus in Foetu

• A child born with his twin inside them

• Lives off it like a parasite

• Surgery can usually remove

Progeria

• 1 in 8,000,000• Aged well

beyond their years

• Lose hair and develop wrinkles

• Most die by adolescence

Vestigial Tail

Born with a semi-functional tail

Cri du Chat

• Birth defect in the larynx

• Removal of genes from chromosome 5

Hypospadias

• The opening of the urethra is not located at the tip of the penis.

• Not treated: can lead difficulty performing sexual intercourse or urinating while standing.

• 5 out of every 1,000 boys born in the United States have this.

Anencephaly

• Neural tube defect that occurs when the rostral (head) end of the neural tube fails to close

• Between the 23rd and 26th day of conception

• Results in the absence of a major portion of the brain, skull, and scalp.

Hydrocephalus

• Excess fluid surrounds the brain• Shunt is placed in cerebral area to drain fluid

Birth Defect Statistics (babies per year)

• Down syndrome: 6,916

• Cleft lip and/or cleft palate: 6,776

• Heart defects: 6,527

• Musculoskeletal defects : 5,799 Stomach/intestinal defects: 2,883

• Eye defects: 834