Common congenital disorders

Question 1

congenital anomalies

Answer 1

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

Question 2

syndrome

Answer 2

pattern of anomalies creating a recognisable phenotype

Question 3

single gene disorders

Answer 3

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

Question 4

inauterine environement that can cuase anomalies

Answer 4

oligohydramnios
multiple pregnancies
amniotic bands

Question 5

dietary factors

Answer 5

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

Question 6

anti epileptics that are teratogenic

Answer 6

sodium valporate
phenytoin
carbamezepine

topiramate- cleft palate

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

Question 7

infections and anomalies

Answer 7

CMV
rubella 
parvovirus
syphilis
zika virus

Question 8

detection of anomalies before birth

Answer 8

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