Birth Defects Flashcards
1
Q
Vacterl Association
A
Vertebral anomalies Anal atresia Cardiac anomalies Tracheo-esophageal fistula Renal Limb Leading hypothesis is that it evolves in the trophoblastic day 7 stage
2
Q
Acutane as a Teratogen
A
Tetralogy of Fallot
3
Q
Teratogens
A
Thalidomide Vitamin A analogues Cholesterol synth inhibitors Anticonvulsants ACE Inhibs Ethyl alcohol
4
Q
Targeted Ashkenazi Jewish screening
A
1/4 chance heterozygote for a AR disease: Tay-Sachs (hexosaminidase A), Canavan, Gaucher, Niemann-Pick, Bloom, Fanconi, mucolipidosis
5
Q
Hemoglobinopathy screening
A
MCV
6
Q
CF screening
A
Generally genetic screen of parents - 50 % caught with one mutation DF508
Mom then dad if she’s positive then amniocentesis if both
7
Q
Lung Fluid Regulation
A
Secretion driven by Cl
Reabsorption by Na
8
Q
Apgar Score
A
t
Assigned at 1 and 5 minutes and then every 5 minutes until 7 or more or 20 minutes
9
Q
Differential Oxygenation
A
Pre-ductal blood (head and right arm well-oxygenated)
Rest not and blue
10
Q
Newborn Vitals
A
110-140 bpm
40-60 R/min
BP = 60-90/30-60 mmHg
