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68wm6 p2 Mis Com New

Miscellaneous Complications of the Newborn

QuestionAnswer
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