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Flashcards in Common congenital disorders Deck (8)
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1

congenital anomalies

range of abnormalities affecting structure and or function or organs

genetic (trisomies T21, T18, T13. monosomies Turners, klinfelter)
environmental
teratogenic

1. malformation- abnormal/partial or not formed (major to minor)
2. deformation: abnormal modification or normal forming factor
3. disruption vascular or mechanical process
4. dysplasia intrinsic abnormalities at cellular level

2

syndrome

pattern of anomalies creating a recognisable phenotype

3

single gene disorders

autosomal recessive- sickle cell, PKU, CF, albinism

autosomal dominant- achondroplasia, Di George Williams

X linked recessive- Duchene, Fragile X

non genetic: intrauterine environment (socioeconomic status, maternal age, nutrition, radiation), dietary deficiency, drugs and toxins, infection, multi factoral

4

inauterine environement that can cuase anomalies

oligohydramnios
multiple pregnancies
amniotic bands

5

dietary factors

folic acid deficiency: neural tube defects such as spina bifida, meningocele

vitamin A deficiency- late trimester. preterm delivery, anaemia, blindness
(excess= birth defects)

vitamin D= hypoglycaemia, low birth weight, bone and growth problems

thalidomide

6

anti epileptics that are teratogenic

sodium valporate
phenytoin
carbamezepine

topiramate- cleft palate

alcohol- fetal alcohol syndrome
recreational - smoking, cocaine, heroin

7

infections and anomalies

CMV
rubella
parvovirus
syphilis
zika virus

8

detection of anomalies before birth

antenatal care: hx, meds, infection
ultrasound
amniocentesis
chronic villous sampling

at birth: rupture of membranous, mode of delivery

NIPE- heart, hips, eyes, testes
hearing test*
new born screening: CF, SCD, CHX, 6 x IMD (metabolic)

schedule of growing skills, preschool assessments, educational attainment