Ch36 study guide (hemolytic disorders and congenital anomalies) Flashcards
most common result of ABO incompatibility
hyperbilirubinemia
occurs most often when the blood groups of mother and baby are different
hemolytic disease of the newborn
condition that occurs when an Rh-negative mother has an Rh-positive fetus who inherits the dominant Rh-positive gene from the father
Rh incompatibility (isoimmunization)
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
maternal sensitization
complication of Rh incompatibility in which erythrocytes are destroyed by maternal Rh-positive antibodies
- this can result in an increase in fetal bilirubin levels
fetal hemolytic anemia
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
erythroblastosis fetalis
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
hydrops fetalis
most common cause of hemolytic disease in the newborn
ABO incompatibility
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
exchange transfusion
maternal blood test, used to determine whether the mother has antibodies to the Rh antigen
Indirect Coombs test
test performed on cord blood to determine whether there are maternal antibodies to the Rh antigen in the fetal blood
Direct Coombs test
structural or function abnormality that occurs during intrauterine life and is identified prenatally, at birth, postnatally, during infancy, or thereafter
congenital anomaly
a biochemical autosomal recessive genetic disorder that causes a blockage in a critical metabolic pathway
- examples include phenylketonuria and galactosemia
inborn errors of metabolism
a small head circumference restricting brain growth and leading to cognitive impairment
microcephaly
urinary meatus opens slow the glans penis or anywhere along the ventral surface of the penis, scrotum, or peritoneum
hypospadias
urinary meatus opens on the dorsal surface of the penis
epispadias
abnormal development of the bladder, abdominal wall, and pubic symphysis that causes the bladder, urethra, and ureteral orifices to be exposed
exstrophy of the bladder
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
hydrocephalus
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
congenital heart defects
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
talipes equinovarus
The most common defect of the CNS resulting from failure of the neural tube to close at some point during fetal development
spina bifida (neural tube defect)
The most common congenital anomaly of the nose consisting of unilateral or bilateral Bony or soft tissue septum obstructing the posterior nares
choanal atresia
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
spinal bifida occulta
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
meningocele (spina bifida manifesta)
covered (with us peritoneal sac) defect of the umbilical ring into which varying amounts of the abdominal organs herniate
omphalocele
Herniation of the bowel through a defect in the abdominal wall to the right of the umbilical cord
- no membrane covers the intestines
gastroschisis
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
esophageal atresia
Congenital anomaly characterized by an abnormal connection between the esophagus and the trachea
tracheoesophageal fistula
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
imperforate anus
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
developmental dysplasia of the hip (DDH)
Herniation of the brain and meninges through a skull defect, usually in the occipital area
encephalocele
Congenital disorder characterized by the absence of both cerebral hemispheres and the overlying skull
- it is incompatible with life
anencephaly
Disorder characterized by displacement of the abdominal organs into the thoracic cavity through a defect in the formation of the diaphragm
congenital diaphragmatic hernia
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
myelomeningocele (spina bifida manifesta)
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
cleft lip or palate
Erroneous or abnormal sexual differentiation
ambiguous genitalia
Studies involving the analysis of chromosomes and molecular DNA
- they are done to confirm or rule out a suspected genetic disorder
cytogenic studies
