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Erstellt von Elizabeth Then
vor etwa 6 Jahre
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Frage | Antworten |
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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