Chapter 36 - Hemolytic Disorders and Congenital Anomalies

Question 1

Complications That Affect Newborns

Answer 1

Problems of gestational age or intrauterine growth that do not follow normal patterns
Acquired problems resulting from maternal or newborn physiologic factors
Physical problems

Question 2

Hyperbilirubinemia

Answer 2

(lyzed RBC - goes to liver and baby’s liver can’t process so baby yellow)
Bilirubin level in blood is increased
Breakdown of hemoglobin formed after it is released from hemolyzed RBC’s
Characterized by yellow discoloration of the skin, mucous membranes, sclera, and various organs
Referred to as jaundice or icterus
Caused by an accumulation of unconjugated bilirubin and hemolyzed RBCs under the skin

Question 3

Pathologic jaundice (hyperbilirubinemia)

Answer 3

Level of serum bilirubin that, if left untreated, can result in kernicterus (acute bilirubin encephalopathy)
IVF
Bili lights
Exchange transfusion
(heat in room 85 degrees, need baby to eat every 2 hours to get them to poop to get bilirubin out)

Question 4

Acute Bilirubin Encephalopathy

Answer 4

Caused by deposition of bilirubin in brain
***Normally bilirubin does not damage-bound to albumin-carried to liver to become conjugated-if albumin binding sites are full circulates as unconjugated (indirect) bilirubin-highly lipid soluble and crosses blood brain barrier
Can develop in newborns who show no apparent signs of clinical jaundice
Bili 25 or >
Associated with acute and long-term symptoms of neurologic damage
Never present at birth
Kernicterus-irreversible-chronic sequela of bilirubin toxicity

Question 5

ABO incompatibility

Answer 5

Fetal blood type is A, B, or AB, and the maternal type is O
Naturally occurring anti-A and anti-B antibodies are transferred across the placenta to the fetus
Maternal antibodies cross placenta, causing hemolysis of fetal RBC’s
Exchange transfusions required occasionally

Question 6

Rh incompatibility (isoimmunization)

Intrauterine transfusion-can do as frequently as q 2 weeks into umbilical vein

Answer 6

Rh-positive offspring (inherited Rh positive gene from father) of an Rh-negative mother are at risk
- Mother forms antibodies against the fetal blood cells
Erythroblastosis fetalis-fetus compensates for by producing a large # of immature erythrocytes
Hydrops fetalis-most severe form of

(babies producing RBC by 9 wks of gestation)

Question 7

Care Management of Hyperbilirubinemia

Answer 7

Determine blood type of woman prenatally
Rh immunoglobulin
Rhogam (RHoD) immunoglobulin-destroys fetal RBC’s in maternal circulation and blocks maternal antibody production
90% effective-give at Rh – mom 28 weeks,72 hours after delivery, after invasive procedure

Question 8

Case Management of Hyperbilirubinemia

Answer 8

Inderect Coomb’s test-First prenatal visit of RH – woman, determines if mom has antibodies to Rh antigen
Cord blood to lab-indirect Coomb’s test antibody titer performed if titer is 1:64 exchange transfusion

Question 9

Congenital Anomalies

Answer 9

Congenital disorder present at birth; can be caused by genetic or environmental factors, or both
Physical, metabolic, anatomic, or behavioral deviations from the normal pattern of development
Presence of one anomaly warrants need to evaluate for further anomalies

Question 10

Most common major congenital anomalies that cause serious problems in neonate

Answer 10

Congenital heart disease
Neural tube defects
Cleft lip or palate
Clubfoot
Developmental dysplasia of the hip

Question 11

Most common of all congenital anomalies

Answer 11

Cardiovascular system anomalies

81 per 10,000 births

Question 12

Congenital heart defects (CHDs)

Answer 12

are anatomic abnormalities in the heart that are present at birth but may not be diagnosed immediately
***VSD most common 30-35% of all CHD (hole in ventricle)

Question 13

Neural Tube Defects (NTD)

Answer 13

Defects in the closure of the neural tube during fetal development
Environmental influences: maternal anticonvulsants, MTX, folic acid deficiency, maternal diabetes
–> Folic acid supplement 0.4 mg/day (400 g to prevent NTD)
NTD 1:1000 births
Encephalocele-herniation of the brain and meninges through a skull defect
Anacephaly-absence of both cerebral hemispheres and of the overlying skull: incompatible with life

Question 14

Central nervous system anomalies (neural tube defects)

Answer 14

Encephalocele 
Anencephaly
Spina bifida
Meningocele; myelomeningocele
Hydrocephalus
Microcephaly

Question 15

Spina Bifida

Answer 15

Spina bifida-most common defect of CNS
Spina bifida occulta-milder form-skin covering defect-bulging-hairy patch
Spina bifida manifesta-herniation of the meninges
Myelomeningocele-herniation of the meninges and spinal cord-with or without skin covering-

Question 16

Hydrocephalus

Answer 16

Excessive CSF in ventricles
Usually obstruction not letting ventricles drain
Increased head circumfrence
Fontanels full
Increasing ICP-vomiting, irritability

Question 17

Microcephaly

Answer 17

HC 2 standard deviations below mean

Decreased brain growth

Question 18

Respiratory system anomalies

Answer 18

Laryngeal web (uncommon) - Incomplete separation of two sides of the larynx-usually between vocal cords
Choanal atresia (obligate nose breathers) - Posterior nares are blocked
Congenital diaphragmatic hernia - Defect in the formation of the diaphragm-high mortality rate

Question 19

Gastrointestinal system anomalies

Answer 19

Facial clefts—lip or palate
Esophageal atresia and tracheoesophageal fistula
Omphalocele
Gastroschisis
Gastrointestinal obstruction
Imperforate anus

Question 20

Cleft lip and palate

Answer 20

Among most common
Cleft lip with or without cleft palate 10.48 per 10,000 births
Cleft palate alone 6.39 per 10,000 births
Surgical repair-sometimes several surgeries
Feeding problems, risk of aspiration
Speech therapy
Orhodontics
(can have feeding problems, usually have special bottle, sometimes breast feeding works better)

Question 21

Esophageal Atresia and TEF

Answer 21

EA-esophogus end in blind pouch
Tracheoesophagael fistula (TEF) abnormal connection between the esophagus and trachea
Surgically repaired
Can be seen on US

Question 22

Omphalocele and Gastroschisis

Answer 22

Omphalocele-covered defect of umbilical ring, organs can herniate-50% have underlying chromosomal disorder
Gastorschisis-herniation of bowel through defect in abdominal wall to the right of the umbilical cord-no membranes covering
(have to have c-section; go to surgery soon after birth; short gut syndrome; will be on TPN - will kill liver so have to have liver and bowel transplant)

Question 23

Imperforate Anus

Answer 23

1:5000 births 
Occur greater in male than female
No anal opening
Sometimes fistula
(can get fixed then fine)

Question 24

Musculoskeletal system anomalies

Answer 24

Developmental dysplasia of the hip (DDH)-abnormal development of one or all the components of the hip joint
Breech higher risk
Check for with Ortolani and Barlow tests
Clubfoot-severel variants-due to how foot can be positioned
Polydactyly (mult digits)
(have to be in harness to hold hips)

Question 25

Genitourinary system anomalies

Answer 25

Hypospadias-abnormally located urinary meatus, anywhere along the ventral surface of the penis
Exstrophy of the bladder-rare, cover with sterile,nonadherent dressing-surgery within 48 hours
Ambiguous genitalia

Question 26

Key Points

Answer 26

Hyperbilirubinemia caused by variety of factors, including maternal-fetal Rh and ABO incompatibility

Question 27

Key Points

Answer 27

Erythroblastosis fetalis leads to anemia, edema, and the cytotoxic effects of unconjugated bilirubin

Question 28

Key Points

Answer 28

Injection of Rho(D) immunoglobulin in Rh-negative and Coombs’ test–negative women bestows passive immunity and minimizes possibility of isoimmunization

Question 29

Key Points

Answer 29

Neonatal exchange transfusion with type O, Rh-negative RBCs serves to treat anemia and acidosis and to remove bilirubin, maternal antibodies, and fetal RBCs that are beginning to hemolyze

Question 30

Key Points

Answer 30

Major congenital defects are leading cause of death in term neonates

Question 31

Key Points

Answer 31

Most common major congenital anomalies causing serious problems in the neonate
Congenital heart disease
Neural tube defects
Cleft lip or palate
Clubfoot
Developmental dysplasia of the hip

Question 32

Key Points

Answer 32

Minor anomalies may be part of a characteristic pattern of malformations

Question 33

Key Points

Answer 33

Current technology permits the prenatal diagnosis of many congenital anomalies and disorders

Question 34

Key Points

Answer 34

Most widespread use of postnatal testing for genetic disease is routine screening of newborns for inborn errors of metabolism

Question 35

Key Points

Answer 35

Curative and rehabilitative problems of an infant with a congenital disorder are often complex and require a multidisciplinary approach to care

Question 36

Key Points

Answer 36

Parents need special instruction (CPR, oxygen therapy, nutrition requirements) before taking home a high risk infant

Question 37

Key Points

Answer 37

Supportive care given to parents of infants with an abnormal condition must begin at birth or at time of diagnosis and continue for years