Causes of asymmetric fetal growth restriction
Maternal or placental
Cause of symmetric fetal growth restriction
Fetal problems (chromosomal abnormalities, infection, erythroblastosis)
1 month to 1 year, 90% of deaths within 1st 6 months, male, African-American, low parental SES.
Why intrauterine infection results in preterm premature rupture of membranes
Releases of collagenases, elastases that promote membrane rupture and release of prostaglandins that promote smooth muscle contraction
When can a primigravada mother have Rh incompatability
Prior history of incompatible transfusion
Enzyme deficiency that gives rise to galactosemia
Galactose-1-phosphate uridyltransferase deficiency (GALT)
Presentation of galactosemia
Liver damage (fatty change and portal fibrosis), cataracts, diarrhea, E. coli septicemia w/o pancreatic abnormalities
Familial hypercholesterolemia presentation
Genetic factors that indicate good prognosis for retinoblastoma
Absence of N-myc or 1p deletion. Presence of hyperdiploidy and high levels of Trk A (nerve growth factor receptor that allows for differentiation).
Most common location of teratoma presentation in a fetus
Midline at the sacrococcygeal area
Irregular, red-blue skin lesions that are flat and spreading
Diagnostic tests for fetal lung development
Amniotic L:S ratio and lamellar bodies (in differentiated pneumocytes)
1st trimester infection that causes heart defects
Teratogen that causes limb defects
Condition that leads to fetal anemia with congestive heart failure and hydrops
Erythroblastosis fetalis. Maternal antibody coats fetal RBCs that causes hemolysis and anemia which leads to heart failure.
Recurrence rate in multifactorial inheritance patterns
When can phenylalanine restriction be lifted in a person with PKU?
Adulthood, once neural development is complete. PKU only affects CNS tissue.
Condition not associated with diabetic embryopathy
Condition characterized by multiple recurrent severe infections from birth
Adenosine deaminase deficiency
Condition characterized by cholestasis in children that progresses to chronic liver disease
Fetal effects of CMV
Severe anemia, myocardial injury, hydrops, retardation and renal tubular epithelial damage.
Pathology associated with high dose oxygen
Less serious consequences than Rh incompatibility
Most common tumor of infancy
Most common cystic fibrosis mutation
3-base pair deletion F-508
Genetic causes of WAGR syndrome
11p deletion, WT1 deletion and PAX6 deletions can lead to Wilms, Aniridia, GU defects and mental Retardation.
Trisomy associated with horseshoe kidney
18 (Edwards syndrome)
Myophosphorylase deficiency that causes muscle cramping
Trisomy associated with polydactyly, cleft lip, cyclopia and holoprosencephaly.
13 (Patau syndrome)
Syndrome associated with cystic hygroma, aortic coarctation and renal anomalies
45X (Turner syndrome)
Significant hemorrhage at time of delivery or uteroplacental insufficiency with growth retardation
Fetal infections that develop slowly? Quickly? At birth?
Slowly: CMV, syphilis and toxoplasmosis. Quickly: GBS. At birth: HSV.
Decreased skin pigmentation and a mousy odor
von Gierke disease (liver failure)
Lysosomal acid maltase deficiency
Pompe disease (cardiomegaly + heart failure)
Niemann-Pick disease (hepatosplenomegaly and mental retardation)
Listeria effect on neonate
CMV and todo effect on neonate
Severe CNS damage
Large, pink, intranuclear inclusions in RBCs w/fetal anemia, cardiac failure and hydrops
Fibrous bands that mess up normal limb development
Child presents with abnormal limb, vertebrae and craniofacial development
Retinoic acid embryopathy due to down-regulation of the TGF-beta signaling pathway and decreased expression of HOX genes.
Saber shin periosteitis
Can be used to link haplotypes with disease
Translocation that produces gametes capable of producing trisomies of monosomies
Vertebral defects, imperforate ANus, TEF, and Renal dysplasia
Cytogenic abnormality occurs in just the trophoblast
Only placenta is affected
Causes of necrotizing enterocolitis
Intestinal ischemia, PAF induced apoptosis, bacterial overgrowth and formula feeding
Infant does not pass stool and has cystic fibrosis
70% of retinoblastoma mutations are what type
Mutation associated with severe CF phenotypes
Why CF patients get pancreatitis
CFTR also controls pancreatic bicarbonate transport
Neurotransmitter defect that may cause SIDS
Abnormalities in medullary centers that regulate response to hypoxia, hypercarbia and thermal stress may involve decreased levels of serotonin and cause cardiorespiratory failure.