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N113 Risky Newborn
N113 - High Risk Newborn
| Question | Answer |
|---|---|
| Hereditary influences | Abnormality in a single gene or pair of gene Congenital anomalies & diseases |
| Autosomal dominant | One parent carries trait, 50% chance of child having trait. Huntington's disease. One copy of gene = trait. |
| Autosomal recessive | Both parents must carry recessive trait to pass it on to child 25% chance of child having trait. 50% chance of being a carrier, 25% chance of being unaffected. |
| X-linked recessive & dominant | Occurs mainly in males, only X has an abnormality - colorblindness, hemophilia. Women are carriers. |
| Chromosomal abberations | Trisomy 21 - Downs syndrome. Extra chromosome 21, produces distinctive physical characteristics, mongoloid slant of eyes, low set ears, simian line |
| Entire single chromosome missing | Monosomy - incompatible with life. Only monosomy compatible with life is Turner's syndrome. Have single X chromosome & always female |
| Structural chromosomal abnormality | Non-disjunction-paired chromosomes fail to separate during cell division. |
| Multifactorial inheritance | When multiple genes & environmental influences precipitate disorders. Not necessarily inherited, follows bloodline. Something goes wrong during development - cleft palate. |
| Environment & birth defects | Often a sex bias, additive effect, the more family members who have the defect, the greater the risk. |
| Structural birth defects | Cardiovascular defect, cleft lip & palate, gastrointestinal atresias, renal defects, neural tube defects. |
| Inborn errors of Metabolism | Abnormal metabolic conditions - PKU |
| Genetic evaluation & counseling | Need to study entire family for accuracy. |
| Preconception screening | Check hereditary of both partners for disease or birth defects, examine family photographs, carrier testing - cystic fibrosis. |
| Tetragens | Agents in fetal environment that increase or cause birth defect. |
| Types of tetragens | Maternal infectious agents (viruses/bacteria), Maternal disorders (DM or PKU), drugs, tobacco, alcohol, pollutants, chemicals, radiation, |
| Prenatal diagnosis | Chorionic villus sampling, amniocentesis, ultrasound |
| Birth injuries | Occur during birth process - hematoma, caput succedaneum (crosses suture line), cephalhematoma (doesn't cross suture line). Fractures - clavicle, long bones (femur & humerus), skull |
| Facial Paralysis | Pressure on facial nerve during delivery. May need help with sucking, eye drops if eye doesn't close, tape eye lid shut. |
| Brachial palsy | Upper plexus damage - Erb palsy Assessment - asymmetry of movement w/moro reflex Treatment - preventing contractures, maintain proper position, ROM |
| Phrenic nerve paralysis | Diaphragmatic paralysis - injury is unilateral |
Created by:
jrb265
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