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68wm6 p2 Mis Com New
Miscellaneous Complications of the Newborn
| Question | Answer |
|---|---|
| What is Phenylketonuria (PKU)? | A genetic disorder that causes central nervous system damage from toxic levels of the amino acid phenylalanine in the blood |
| What causes Phenylketonuria (PKU)? | A deficiency of the liver enzyme phenylalanine hydrolase, which is needed to convert phenylalanine to tyrosine |
| S/Sx of Phenylketonuria (PKU): | *Feeding difficulties *Vomiting *Hypertonia *Irritability *Eczema *Musty odor of urine *Mental retardation *Hypopigmentation |
| What is the Tx of Phenylketonuria (PKU)? | (Dietary changes, low-phenylalanine diet) *Special formula for infants *Diet primarily fruits, vegetables, and starches with phenylalanine-free protein supplement *Small amounts of phenylalanine are allowed |
| At what age of the parents is Down Syndrome a greater risk for the child? | *Maternal age > 35 *Paternal age > 55 |
| What are the three phenotypes of down syndrome? | *Trisomy 21 (nonfamilial trisomy 21) *Translocation of chromosomes 15 and 21 or 22 *Mosaicism |
| What causes Trisomy 21? | Attributable to an extra chromosome 21 |
| What phenotype of down syndrome is not associated with advanced parental age, but is instead hereditary? | Translocation of chromosomes 15 and 21 or 22 |
| What phenotype of down syndrome refers to cells with both normal and abnormal chromosomes? | Mosiacism |
| What determines the degree of physical and cognitive impairments in an infant with mosiacism down syndrome? | The degree of physical and cognitive impairment is related to the percentage of cells with the abnormal chromosome makeup |
| What is the most common phenotype of down syndrome? | Trisomy 21. Occurs in about 95% of all cases |
| How is down syndrome Diagnosed? | *Alpha-fetoprotein (AFP) screening *Multiple Marker screening *Chorionic villus sampling *Amniocentesis *Nuchal translucency |
| What causes hemolytic disease of the newborn? | *Incompatability between blood of mother and fetus *Rh incompatibility *ABO incompatibility |
| What is Periventricular-Intraventricular Hemorrhage? | bleeding around and into the ventricles of the brain |
| What infants does Periventricular-Intraventricular Hemorrhage (PIVH) occur in most frequently? | Occurs most often in infants of less than 32 weeks gestation or weight less than 1500g |
| When does hemmorhage from PIVH (Periventricular-Intraventricular Hemorrhage) occur most commonly? | First few days after birth |
| List four S/Sx of PIVH (Periventricular-Intraventricular Hemorrhage): | *Full or bulging fontanelles *Lethargy *Poor muscle tone *Deterioration of respiratory status with cyanosis or apnea *Drop in hematocrit levels *Decreased reflexes *Seizures |
| Congenital abnormalities are how much more likely in an infant born to a diabetic mother? | Three times more likely |
| What are the most frequent genetic abnormalities in infants born to diabetic mothers? | *Cardiac (Cardiomegaly is common and may lead to heart failure) *Urinary tract *Gastrointestinal *Neural tube defects *Caudal regression syndrome |
| What can the diabetic mother do to reduce the incidence of congenital abnormalities in her unborn child? | The incidence of anomalies is less if blood glucose levels remain within normal limits, especially before conception and in the early weeks of gestation |
| How does the fetus compensate for the mothers higher glucose, and what can it result in once born? | Fetal pancreas secretes large amounts of insulin, It can result in Hypoglycemia once removed from mothers suger rich blood. |
Created by:
Shanejqb
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