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M6 13-005

Exam 10: Misc Complications of the Newborn

Phenylketonuria (PKU) A genetic disorder that causes central nervous system damage from toxic levels of the amino acid phenylalanine in the blood
Phenylketonuria (PKU): Causes (1) A deficiency of the liver enzyme phenylalanine hydrolase, which is needed to convert phenylalanine to tyrosine, for use. (2) It is an autosomal recessive disorder.
Phenylketonuria (PKU): S/S Digestive problems. Failure to thrive. Vomiting & later progress to seizures. Musty urine odor. Eczema. Hypertonia. Hyperactive behavior. Intellectual disability.
Phenylketonuria (PKU): Therapeutic Management -Positive screening test. -Low-phenylalanine diet (NLT 3 weeks of life and ongoing) -The infant receives a special formula low in phenylalanine, and low protein foods are introduced when solids begin. -Fruits, veggies, starches.
Phenylketonuria (PKU): Nursing Considerations Ensure all newborns are screened for PKU at the appropriate time. parents in regulating the diet to meet infant’s changing phenylalanine needs.
Down Syndrome caused by the presence of all or part of a third copy of chromosome.
Down Syndrome: Etiology 1) Statistically greater risk when maternal age > 35. Increase in congenital abnormalities when paternal age > 55. (2) However, the majority (about 80%) of infants with Down syndrome are born to women younger than age 35
Down Syndrome: 3 Phenotypes Trisomy 21 (nonfamilial trisomy 21). Translocation of chromosomes 15 and 21 or 22. Mosaicism.
Trisomy 21 (nonfamilial trisomy 21) 1)Attributable to an extra chromosome 21. 2)Occurs in about 95% of all cases.
Translocation of chromosomes 15 and 21 or 22 1) This type of genetic aberration is usually hereditary. 2) Not associated with advance parental age. 3) Occurs in about 3% to 4% of cases.
Mosaicism 1) Refers to cells with both normal and abnormal chromosomes. 2) The degree of physical and cognitive impairment is related to the percentage of cells with the abnormal chromosome makeup. 3)Occurs in 1% to 2% of cases.
Down Syndrome: Diagnostic Evaluation Alpha-fetoprotein (AFP) screening. Multiple Marker screening. Chorionic villus sampling. Amniocentesis. Nuchal translucency.
Alpha-fetoprotein (AFP) screening the predominant protein in fetal plasma and low levels of maternal serum AFP suggests chromosomal abnormalities such as Trisomy 21.
Multiple Marker screening Maternal alpha-fetoprotein (AFP), Unconjugated estriol and Human chorionic gonadotropin (HCG) levels (Triple screen), and a 4th marker, the placental hormone inhibin A, improves accuracy for identifying trisomy 21 in women younger than age 35.
Chorionic villus sampling usually performed between 10 and 12 weeks to diagnose fetal chromosomal, metabolic or DNA Abnormalities.
Amniocentesis Most common purpose for midtrimester (15 to 20 weeks). Amnio is to examine fetal cells present in amniotic fluid to identify chromosome abnormalities.
Nuchal translucency An area at the back of the fetal neck that does not return ultrasound echoes. May also indicate the possibility of Down syndrome and other chromosome abnormalities.
Down Syndrome: Clinical Manifestations (Head) Separated sagittal suture. Brachycephaly. Skull rounded and small. Flat occiput. Enlarged anterior fontanel.
Down Syndrome: Clinical Manifestations (Face) Flat profile.
Down Syndrome: Clinical Manifestations (Eyes) Oblique palpebral fissures (upward, outward slant). Innerepicanthal folds. Speckling of iris. Short, sparse eyelashes.
Down Syndrome: Clinical Manifestations (Nose) Small, depressed nasal bridge (saddle nose)
Down Syndrome: Clinical Manifestations (Mouth) High, arched, narrow palate. Protruding tongue that may be fissured at lip and furrowed on surface. Hypoplastic mandible. Downward curve (especially when crying). Mouth kept open.
Down Syndrome: Clinical Manifestations (Hands) Broad, short stubby fingers. Incurved little finger. Transverse palmar crease. Increased ulnar loops on fingers.
Down Syndrome: Clinical Manifestations (Chest) Shortened rib cage. Twelfth rib anomaly.
Down Syndrome: Clinical Manifestations (Feet) Wide space between big and second toes. Plantar crease between big and second toes. Broad, stubby, and short.
Down Syndrome: Clinical Manifestations (Musculoskeletal) Short stature. Hyperflexibility, muscle weakness. Hypotonia.
Down Syndrome: Clinical Manifestations (Abdominal) Reduced birth weight. Protruding, muscles lax and flabby. Diastasis recti. Umbilical hernia.
Down Syndrome: Clinical Manifestations (Other Problems) Congenital heart malformation (septal defects). Respiratory tract infections. Dysfunction of immune system. Thyroid dysfunction (congenital hypothyroidism). Increased incidence of leukemia.
Down Syndrome: Therapeutic Management No cure exists for Down syndrome,however surgery to correct serious congenital anomalies. They benefit regular medical care &evaluations of sight and hearing. Periodic testing of thyroid function.
Down Syndrome: Nursing Considerations Family support and education Allow parents to express concerns Assist in preventing problems Involve parents in infant care to promote bonding.
Hemolytic Disease: Causes Incompatibility between blood of mother and fetus. Rh incompatibility. ABO incompatibility.
Hemolytic Disease: Therapeutic Management Isoimmunization is prevention. Diagnosis of the disease is determined by Hx & Dx test to identify infections of blood abnormalities. If infant is jaundiced, Coombs test. Serum Bilirubin levels.
Periventricular-Intraventricular Hemorrhage (PIVH) Defined as bleeding around and into the ventricles of the brain
Periventricular-Intraventricular Hemorrhage (PIVH): Pathophysiology Occurs most often in infants of less than 32 weeks or weight less than 1500g. First few days (72 hours) are the most common time for hemorrhage to occur. Results from rupture of the fragile blood vessels around the ventricles.
PIVH Grade I bleeding occurs just in the germinal matrix
PIVH Grade II bleeding also occurs inside the ventricles
PIVH Grade III ventricles are enlarged by the blood
PIVH Grade IV there is bleeding into the brain tissues around the ventricles
PIVH most often associated with... Hypoxic injury to the vessels. Increased or decreased blood pressure. Increased or fluctuating cerebral blood blow. Rapid blood volume expansion. Hypercarbia. Anemia. Hypoglycemia.
PIVH Manifestations: S/S Lethargy. Poor muscle tone. Deterioration of respiratory status with cyanosis or apnea. Drop in hematocrit levels. Decreased reflexes. Full or bulging fontanelles. Seizures.
PIVH Therapeutic Management Ultrasonography on preterm infants. Treatment is supportive. -Maintain respiratory function. -Handle other complications. Hydrocephalus may develop. -Lumbar taps. -Ventriculoperitoneal shunt.
PIVH Nursing Considerations Aspects of care may increase cerebral blood flow and blood pressure. Nurse must be alert for early signs of PIVH. Care: Daily head circumference. Changes in neurologic status. Reduced environmental stressors. Parental support and teaching.
Infant of a Diabetic Mother (IDM): Risks Neonatal mortality is 5 x that of infants of non-diabetic mothers. Congenital anomalies are three times more likely in infants of diabetic mothers.
Infant of a Diabetic Mother (IDM): Most Frequent Neonatal Anomalies Cardiac. Urinary tract. Gastrointestinal. Neural tube defects. Caudal regression syndrome. Cardiomegaly is common and may lead to heart failure.
Infant of a Diabetic Mother (IDM): Manifestations Infant may be SGA. Macrosomic: 4000-4500g or 8lb13 oz-9 lb 15oz: -50% gestational -40% pregestational Fetal pancreas secretes large amounts of insulin. Hypoglycemia. Risk for injury during birth. Higher risk of asphyxia and RDS.
Infant of a Diabetic Mother (IDM): Manifestations (Other Complications) Hypocalcemia Low magnesium levels Polycythemia with hyperbilirubinemia Increased likelihood of premature delivery
Infant of a Diabetic Mother (IDM): Therapeutic Management Includes controlling the mother’s diabetes throughout the pregnancy to decrease complications. Be prepared for shoulder dystocia or cephalopelvic disproportion and C- Section.
Infant of a Diabetic Mother (IDM): Nursing Considerations (Assessment) Signs of complications, trauma, and congenital anomalies at delivery and during transition. Respiratory problems. Hypoglycemia. Rapid respirations, low temp and poor muscle tone.
Infant of a Diabetic Mother (IDM): Nursing Considerations (Interventions) Monitor glucose levels ( 40-45mg/dl) Feed infant early Parental support
Why is the infant of a diabetic mother often hypoglycemic after delivery? Due to the abrupt loss of maternal glucose and the overproduction of insulin by the infant.
Created by: jtzuetrong