Ch36 study guide (hemolytic disorders and congenital anomalies)

Question 1

most common result of ABO incompatibility

Answer 1

hyperbilirubinemia

Question 2

occurs most often when the blood groups of mother and baby are different

Answer 2

hemolytic disease of the newborn

Question 3

condition that occurs when an Rh-negative mother has an Rh-positive fetus who inherits the dominant Rh-positive gene from the father

Answer 3

Rh incompatibility (isoimmunization)

Question 4

term used to refer to an Rh-negative mother’s formation of antibodies capable of destroying the RBCs of an Rh-positive fetus
- this occurs with exposure of the mother to Rh-positive blood during pregnancy, birth, abortion, amniocentesis, or trauma

Answer 4

maternal sensitization

Question 5

complication of Rh incompatibility in which erythrocytes are destroyed by maternal Rh-positive antibodies
- this can result in an increase in fetal bilirubin levels

Answer 5

fetal hemolytic anemia

Question 6

complication of Rh incompatibility that results in fetal compensation for RBC destruction by producing large numbers of immature erythrocytes to replace those that are hemolyzed

Answer 6

erythroblastosis fetalis

Question 7

the most severe form of Rh incompatibility
- it is characterized by marked anemia, cardia decompensation, cardiomegaly, hepatosplenomegaly, hypoxia, and fluid leakage out of the intravascular space, resulting in generalized edema and fluid effusion into the peritoneal, pericardial, and pleural spaces

Answer 7

hydrops fetalis

Question 8

most common cause of hemolytic disease in the newborn

Answer 8

ABO incompatibility

Question 9

type of blood transfusion accomplished by alternatively removing a small amount of the infant’s blood and replacing it with an equal amount of donor blood

Answer 9

exchange transfusion

Question 10

maternal blood test, used to determine whether the mother has antibodies to the Rh antigen

Answer 10

Indirect Coombs test

Question 11

test performed on cord blood to determine whether there are maternal antibodies to the Rh antigen in the fetal blood

Answer 11

Direct Coombs test

Question 12

structural or function abnormality that occurs during intrauterine life and is identified prenatally, at birth, postnatally, during infancy, or thereafter

Answer 12

congenital anomaly

Question 13

a biochemical autosomal recessive genetic disorder that causes a blockage in a critical metabolic pathway
- examples include phenylketonuria and galactosemia

Answer 13

inborn errors of metabolism

Question 14

a small head circumference restricting brain growth and leading to cognitive impairment

Answer 14

microcephaly

Question 15

urinary meatus opens slow the glans penis or anywhere along the ventral surface of the penis, scrotum, or peritoneum

Answer 15

hypospadias

Question 16

urinary meatus opens on the dorsal surface of the penis

Answer 16

epispadias

Question 17

abnormal development of the bladder, abdominal wall, and pubic symphysis that causes the bladder, urethra, and ureteral orifices to be exposed

Answer 17

exstrophy of the bladder

Question 18

excess CSF in the ventricles of the brain as a result of overproduction, decrease in reabsorption, or aqueduct flow obstruction of CSF
- it is characterized by bulging fontanels, widening of sutures, an abnormal increase in the circumference of the head, and increasing CSF pressure

Answer 18

hydrocephalus

Question 19

term used to refer to the group of anatomic abnormalities of the heart that are present at birth and are the most common of all congenital malformations
- ventricular septal defects and tetralogy of Fallot are two common forms of this type of congenital disorder

Answer 19

congenital heart defects

Question 20

the most common form of clubfoot
- the foot points downward and inward, the ankle is inverted, and the Achilles tendon is shortened, all making the food appear C shaped

Answer 20

talipes equinovarus

Question 21

The most common defect of the CNS resulting from failure of the neural tube to close at some point during fetal development

Answer 21

spina bifida (neural tube defect)

Question 22

The most common congenital anomaly of the nose consisting of unilateral or bilateral Bony or soft tissue septum obstructing the posterior nares

Answer 22

choanal atresia

Question 23

Type of neural tube defect in which the posterior portion of the laminate failed to close but the spinal cord or meninges do not herniate or protrude through the defect and there is no abnormality of the spinal cord, nerve roots, or meninges
- often a birthmark or hairy patches present above the defect

Answer 23

spinal bifida occulta

Question 24

type of neural tube effect in which an external sac containing the meninges and cerebrospinal fluid protrudes through a defect in the vertebral column and is typically covered in skin

Answer 24

meningocele (spina bifida manifesta)

Question 25

covered (with us peritoneal sac) defect of the umbilical ring into which varying amounts of the abdominal organs herniate

Answer 25

omphalocele

Question 26

Herniation of the bowel through a defect in the abdominal wall to the right of the umbilical cord
- no membrane covers the intestines

Answer 26

gastroschisis

Question 27

Congenital anomaly in which the passageway from the mouth to the stomach ends in a blind pouch, thus failing to form a continuous passageway to the stomach

Answer 27

esophageal atresia

Question 28

Congenital anomaly characterized by an abnormal connection between the esophagus and the trachea

Answer 28

tracheoesophageal fistula

Question 29

Term used to describe absence of an anal opening

- commonly it is accompanied by a fistula from the rectum to the perineum or to the GU system

Answer 29

imperforate anus

Question 30

Term used to describe a spectrum of disorders related to the abnormal development of one or all of the components of the hip joint that may develop at any time during fetal life, infancy, or childhood

Answer 30

developmental dysplasia of the hip (DDH)

Question 31

Herniation of the brain and meninges through a skull defect, usually in the occipital area

Answer 31

encephalocele

Question 32

Congenital disorder characterized by the absence of both cerebral hemispheres and the overlying skull
- it is incompatible with life

Answer 32

anencephaly

Question 33

Disorder characterized by displacement of the abdominal organs into the thoracic cavity through a defect in the formation of the diaphragm

Answer 33

congenital diaphragmatic hernia

Question 34

Type of neural tube defect in which an external sac containing the meninges, CSF, and spinal cord protrudes through a defect in the vertebral column
- the sac can tear, allowing CSF to leak out and pathogens to enter

Answer 34

myelomeningocele (spina bifida manifesta)

Question 35

Commonly occurring congenital midline fissure, or opening, in the lip or pallet resulting from failure of the primary palate to fuse
- one or both deformities may occur and nasal deformity may also be present

Answer 35

cleft lip or palate

Question 36

Erroneous or abnormal sexual differentiation

Answer 36

ambiguous genitalia

Question 37

Studies involving the analysis of chromosomes and molecular DNA
- they are done to confirm or rule out a suspected genetic disorder

Answer 37

cytogenic studies