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Repro 4.2
| Question | Answer |
|---|---|
| What is a birth defect? | Abnormality present at birth. Can affect body structure, function, and/or metabolism/body chemistry |
| What are the statistics of birth defects in the US? | 120,000 (1 in 33) Babies in the US are born with birth defects each year. |
| (TRUE OR FALSE) The leading cause of death in the first year of life are birth defects | TRUE |
| Define a congenital defect: | A physical anomaly which is present at birth |
| What causes birth defects? (THREE FACTORS) | -Chromosomal -Single genetic defects -Environmental factors |
| Define birth defects from chromosomal anomalies: | -Aneuploidy (too many or too little chromosomes) -Trisomy 21 (down syndrome) -Trisomy 13/18 can lead to death within the first few months |
| Define birth defects from single gene defects: | -hemophilia, cystic fibrosis, achondroplasia (dwarfism) |
| Define birth defects from environmental factors: | teratogens |
| Define teratogens: | Environmental substances that can cause birth defects |
| Give examples of teratogens: | -Alcohol -Drugs (cocaine, Accutane for acne) -STDs |
| How can we prevent birth defects? | -Genetic testing -Don't smoke or drink or take drugs -STD screening -Folic Acid 4mg |
| The neural tube gives rise to what? | The CNS (brain and spinal cord) |
| Explain the timing in which the neural tube forms: | The neural tube forms EARLY ~5-28 days. It forms before the mother is aware she's even pregnant |
| what are the two types of neural tube anomalies? | -Anencephaly -Spina bifida |
| what is anencephaly? | The upper neural tube doesn't close all the way. This leads to the fetus brain and skull not developing properly |
| What is spina bifida? | The lower neural tube doesn't close all the way resulting in physical and mental disabilities. |
| Why is Folic acid important? (central dogma) | It increases DNA synthesis, rapid cell growth, and methylation. It's also a cofactor in central dogma. |
| Why is Folic acid important? (preventing birth defects) | It decreases birth defects by 50-70% |
| What did the government do to prevent birth defects? | Added folic acid to grains like cereal, corn, flour |
| What are 4 ways birth defects can be diagnosed before birth? | Blood tests Ultrasound CVS amniocentesis |
Created by:
bythedeli