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Dr.  Ronald  Sanchez – Magbitang ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
DOWN SYNDROME
 
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DOWN SYNDROME
DOWN SYNDROME ,[object Object],[object Object],[object Object],[object Object],[object Object]
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[object Object],[object Object],Karyotype  for trisomy Down syndrome. Notice the  three copies of chromosome 21.
[object Object],[object Object],SEX chromosomes Trisomy 21 (3 copies of chromosone 21)
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[object Object],[object Object],[object Object],[object Object],Graph showing increased chance of Down syndrome compared to maternal age
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Prenatal Screening ,[object Object],[object Object],[object Object],[object Object]
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Screening for:  alpha feto protein; estriol, human chorionic gonadotropin; PAPPA; inhibin-alpha Uses  ultrasound  to measure  Nuchal  Translucency  in addition to the freeBeta  hCG  and   PAPPA  (pregnancy-associate plasma protein A, Mendelian Inheritance in Man (OMIM)  176385 ). *  NIH has confirmed that this first trimester test is more accurate than second trimester screening methods 5% 91% 10–13.5 Nuchal translucency/free beta/PAPPA screen This test measures the  alpha  feto  protein , produced by the fetus, and free beta   hCG , produced by the placenta. 2.8% 80% 13–22 AFP/free beta screen This test measures the maternal serum  alpha  feto  protein  (a fetal liver protein),  estriol  (a pregnancy hormone),  human  chorionic   gonadotropin  (hCG, a pregnancy hormone), and high  inhibin -Alpha  (INHA) 7.5% 79% 15–20 Quad screen This test measures the maternal serum  alpha  feto  protein  (a fetal liver protein),  estriol  (a pregnancy hormone), and  human  chorionic   gonadotropin  (hCG, a pregnancy hormone). 8.5% 75% 15–20 Triple screen Description False positive rate Detection rate When performed (weeks gestation) Screen Common first and second trimester Down syndrome screens
[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],Ultrasound of fetus with Down syndrome and megacystis.
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BASIC MEDICAL SURVEILLANCE ESSENTIALS FOR PEOPLE WITH DOWN'S SYNDROME. CARDIAC DISEASE. CONGENITAL AND ACQUIRED (One of a set of guidelines drawn up by the Down’s Syndrome Medical Interest Group)
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Physical Features of Down Syndrome ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
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What are some of the most common heart defects and how are they treated?
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The Heart with TETRALOGY OF FALLOT ,[object Object],[object Object],[object Object],[object Object],[object Object]
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Other Medical Problems Associated with Down Syndrome
Other Medical Problems in Down Syndrome ,[object Object],[object Object],[object Object],[object Object]
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Evaluation of Growth in Down Syndrome  ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
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Thank You ! Dr.  Ronald  Sanchez - Magbitang
Panglao Island, Bohol
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Sources/References: ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
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Down Syndrome

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  • 24. Screening for: alpha feto protein; estriol, human chorionic gonadotropin; PAPPA; inhibin-alpha Uses ultrasound to measure Nuchal Translucency in addition to the freeBeta hCG and PAPPA (pregnancy-associate plasma protein A, Mendelian Inheritance in Man (OMIM) 176385 ). * NIH has confirmed that this first trimester test is more accurate than second trimester screening methods 5% 91% 10–13.5 Nuchal translucency/free beta/PAPPA screen This test measures the alpha feto protein , produced by the fetus, and free beta hCG , produced by the placenta. 2.8% 80% 13–22 AFP/free beta screen This test measures the maternal serum alpha feto protein (a fetal liver protein), estriol (a pregnancy hormone), human chorionic gonadotropin (hCG, a pregnancy hormone), and high inhibin -Alpha (INHA) 7.5% 79% 15–20 Quad screen This test measures the maternal serum alpha feto protein (a fetal liver protein), estriol (a pregnancy hormone), and human chorionic gonadotropin (hCG, a pregnancy hormone). 8.5% 75% 15–20 Triple screen Description False positive rate Detection rate When performed (weeks gestation) Screen Common first and second trimester Down syndrome screens
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  • 27. BASIC MEDICAL SURVEILLANCE ESSENTIALS FOR PEOPLE WITH DOWN'S SYNDROME. CARDIAC DISEASE. CONGENITAL AND ACQUIRED (One of a set of guidelines drawn up by the Down’s Syndrome Medical Interest Group)
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  • 50. What are some of the most common heart defects and how are they treated?
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  • 70. Other Medical Problems Associated with Down Syndrome
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  • 97. Thank You ! Dr. Ronald Sanchez - Magbitang
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