Confidence of being sure:Trigene test

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  • 1/1000 false negative. After validation, it will be confirmatory test. Case studies 100,000
  • Confidence of being sure:Trigene test

    1. 1. Confidence of Being Sure:Case Studies in the diagnosis of FetalChromosomal Abnormalities DR. AMALA NAZARETH MD. DGO. MBBS SPECIALIST OB/GYN PRIME HEALTHCARE GROUP
    2. 2. Prenatal Testing PRENATAL TESTING WIDELY USED AND RECOMMENDED TOSCREEN CHROMOSOMAL ABNORMALITIES IN DEVELOPINGFETUS DOWN’S SYNDROME (TRISOMY 21), EDWARDS SYNDROME(TRISOMY 18) AND PATAU’S SYNDROME (TRISOMY 13) CAN BEDETECTED BY PRENATAL EVALUATION.
    3. 3. Prevalence of Disorders DISORDER PREVALENCE COMPATIBILITY WITH LIFEDOWN’S SYNDROME 1 IN 629 BIRTHS • INTELECTUAL ANDTRISOMY 21 1 IN 1340 (AT 25YRS) LEARNING DISABILITY 1 IN 353 (AT 35YRS) • CHARACTERISTIC 1 IN 35 (AT 45 YRS) FEATURES • CARDIAC AND INTESTINAL DEFORMITIES • INCREASED INFECTION RISKEDWARD’S SYNDROME 1 IN 5500 BIRTHS • HALF DIE WITHIN 1STTRISOMY 18 INCREASES WITH YEAR OF LIFE INCREASED MATERNAL AGE • SEVERE INTELLECTUAL DISABILITYPATAU’S SYNDROME INCREASES WITH HIGHER 80% DIE WITHIN THE 1STTRISOMY 13 MATERNAL AGE MONTH SURVIVORS HAVE FAILURE TO THRIVE
    4. 4. Routine Prenatal Diagnosis Invasive Non Invasive CHORION VILLUS SAMPLING  TRIPLE MARKER TESTS  ULTRASOUND ( DOUBLE AMNIOCENTESIS MARKERS)  CELL FREE FETAL DNA IN THE MATERNAL BLOOD
    5. 5. Non-invasive Prenatal Diagnosis from Maternal blood Current evidence suggests that non-invasive prenatal testing from maternal blood …. – Is a major step forward to improve the identification of pregnancies at a high risk for trisomy 21, 18 and 13 – Has the potential to significantly reduce the number of invasive procedures – Is not considered as diagnostic for the time being
    6. 6. Common Misconceptions about NIPDNon-invasive prenatal diagnosis does replace– invasive testing– first trimester risk screening– ultrasound screeningCaveats– rare complexities (e.g. confined placental mosaicism)– performance in low risk situations
    7. 7. Suggested AlgorithmSerum Screening and/or And/ Sequencing of the Cell-freeUltrasound examination Or DNA Trisomy 21, 18 and 13Invasive Cytogenetic Diagnosis Genetic Counseling • Continue Pregnancy Terminate Pregnancy • Prepare for affected infant
    8. 8. TRIGENE – Non invasive Prenatal Diagnosis• More than 70 thousand cases• 100% detection rate• 0.1% false-positive rate• No false-negative case were reported
    9. 9. Clinical Cases 1T21 case missed by biochemical screeningAge : 31Screening test : 1/510 ( Low risk )Noninvasive Test : T21Karyotyping : 47 , XX , +21
    10. 10. Clinical Cases 2T13Age: 32Screening test: Low riskNoninvasive Test : T13Karyotyping : 47 , XX , +13
    11. 11. Clinical Cases 3T13Age: 32Screening test: Low riskNoninvasive Test : T18Karyotyping : 47 , XX , +18
    12. 12. Clinical Cases 4T13Age: 34Screening test: High riskNoninvasive Test : T18Karyotyping : 47 , XX , +18
    13. 13. Advantage of Non-invasive Pre natal diagnosis• Non- invasive- Only 5ml of maternal peripheral blood is required• No Risk - Absolutely safe without any risk of miscarriage• Early Diagnosis - Can be done at the early stage of pregnancy, ~12 weeks of pregnancy• Highly accurate - close to diagnostic test, 100% sensitivity and99.9% specificity
    14. 14. Thank you

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