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Congenital Defects (Common Defects to Know (Thalassaemia: Microcytic…
Congenital Defects
Common Defects to Know
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X- linked: Haemophilia A, DMD (xp21)
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Terms
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Anomaly: Single gene defect, chromosomal, polygenic
Secondary anomaly: Teratogenic (OH, rads, meds)
Sequence: 1 problem leading to series of others (Pierre- Robin, Potters)
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Reducing incidence
Prevention:
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Vaccine, supplement (Folate, I2)
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Screening:
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Nuchal fold, triple test, 1st and 2nd TM, anomaly scan 20 weeks