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N113 Risky Newborn

N113 - High Risk Newborn

QuestionAnswer
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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