7 A -Birth defects

Question	Answer
Birth 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
Types of birth defects	structural functional/developmental
Birth defects are	structural 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
Structural birth defects	affect 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"
Functional/developmental birth defects	affects how body part functions often lead to intellectual and developmental disability e.g. down syndrome, blind, deaf, metabolic disorder (phenylketonuria) eft syndrome - neuro disorder
Genetic factors:	chromosomal disorders, single, multiple gene defects consanguinity - when parents are related by blood advanced maternal age is a risk factors
Micronutrient deficiencies	lack of folic acid in pregnant women can cause neural tube disorders lack of iodine - can cause maternal hypothyroidism results in cretinism
Maternal infections	rubella, measles can cause abnormal eye, inner ear heartt exposure to zika can cause microcephaly
Anencephaly	birth defect in which child is born without parts of brain
Anophthalmia and microphthlamia	defect 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
Other causes of birth defects	chronic 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
Type of UUS	dating 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
2nd trimester USS	between 18-20 weeks, long look at baby growth, and organ development and function
Who gets diagnostic tests	pregnant women with elevated levels ofa-fetoprotein or abnormal results confirm birth defect above 35 years old, have previous birth defect pregnancy
When 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
When 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 .
Screening test maternal blood tests	end 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)
Screening tests amniocentesis	14 -20 weeks sample of amniotic fluid, analysed for down syndrome
Further tests performed	2 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
Coarctation	birth defect in aorta, narrowed than usual
spina bifida	affects spin, NTD
Omphalcele	birth defect of abdominal wall - intestines, liver, stick outside belly through belly button

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	Created by Elizabeth Then over 6 years ago