Fichas
7 A -Birth defects
Fichas del conjunto (22)
- 1Birth defects:probelm that happens which a baby is developing in a womb
most happen during first 3 months of pregnancy
are inborn errors of development
represent considerable clinical health challenge - 2Types of birth defectsstructural
functional/developmental - 3Birth defects arestructural changes that can affect parts of the body or part
can vary from mild - severe
depends on organ of body part involved
depends on severity, body part affected, expected lifespan - 4Structural birth defectsaffect development of body parts like skeleton and organs
e.g neural tube defects and congenital heart defects
cleft lip or palate - baby's lip or mouth does not form properly called "orofacial clefts" - 5Functional/developmental birth defectsaffects how body part functions
often lead to intellectual and developmental disability
e.g. down syndrome, blind, deaf, metabolic disorder (phenylketonuria)
eft syndrome - neuro disorder - 6Genetic factors:chromosomal disorders, single, multiple gene defects
consanguinity - when parents are related by blood
advanced maternal age is a risk factors - 7Micronutrient deficiencieslack of folic acid in pregnant women can cause neural tube disorders
lack of iodine - can cause maternal hypothyroidism results in cretinism - 8Maternal infectionsrubella, measles can cause abnormal eye, inner ear heartt
exposure to zika can cause microcephaly - 9Anencephalybirth defect in which child is born without parts of brain
- 10Anophthalmia and microphthlamiadefect in baby's eyes
ano - baby born with both or one eye
micro - defect in both eyes did not develop fully, so they are small - 11Other causes of birth defectschronic maternal illness - increased risk of congenital heart disease, with maternal diabetes, HTN
exposure to high doses of radiation - hiroshima attack
multifactorial or unknown causes - genetics and envrionmnet - 12Type of UUSdating scan - confirm due dtae and last menstrual period
nuchal tranalucency - risk of chromosomal abnormality
morphology scan - baby's body and position of placenta, cord, amniotic fluid, uterus, cervix - 132nd trimester USSbetween 18-20 weeks, long look at baby growth, and organ development and function
- 14Who gets diagnostic testspregnant women with elevated levels ofa-fetoprotein or abnormal results
confirm birth defect
above 35 years old, have previous birth defect pregnancy - 15When and why?nucal translucency USS - 1st trimester
NT scan
between 11 - 13 weeks 6 days gestation
'combined first trimester screening'
determines thickness at back of baby's neck
=indicates risk of birth defects such as down syndrome - 16When and why?high level USS or level 2 (morphology) - 18-22 weeks, look for any signs of birth defects indicated from screening tests
chorionic villus sampling CVS- diagnostic test at 12 weeks, sample of placenta (chorionic villus) tested from chromosomal disorders or high risk baby having serious condition CF . - 17Screening test maternal blood testsend of 1st trimester - 11= 13 weeks = 2 screening tests to check for chromosomal disorders
maternal blood screen - blood test for birth disorder is 2 proteins are high or low
(human chorionic gonadotropin (hCG) and pregnancy associated plama protein (PAPP-A) - 18Screening tests amniocentesis14 -20 weeks
sample of amniotic fluid, analysed for down syndrome - 19Further tests performed2 trimester - 15 -20 weels 2 x screening tests are performed:
maternal serum screen - blood test for neural tube defects, down syndrome, USS for back of baby neck
depending on no. of protein tested, also called quad screen or triple screen
anomaly USS - comprehensive USS, for structural abnormalities, or physical, heart, limbs - 20Coarctationbirth defect in aorta, narrowed than usual
- 21spina bifidaaffects spin, NTD
- 22Omphalcelebirth defect of abdominal wall - intestines, liver, stick outside belly through belly button
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- El usuario ha eliminado su información de asignaturas Fichas sobre 7 A -Birth defects, creado por Usuario eliminado el 23/06/2018.
- Creado por
- Usuario eliminado · jun 2018
- Actualizado
- 23 jun 2018
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- 18
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- Creado por Elizabeth Then · 15 jun 2018
- Copiado por Elizabeth Then · 23 jun 2018
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