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Cnmnpcpsp

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  • 1. California Prenatal Screening Program CPSP FIRST TRIMESTER COMBINED = NT Plus 1 st Trimester Analytes FULL INTEGRATED = NT Plus 1st & 2 nd Trimester Analytes SERUM INTERGRATED = 1st & 2 nd Trimester Analytes Only QUAD SCREEN ONLY = 2 nd Trimester Analytes Only
  • 2. NUCHAL TRANSLUCENCY (NT) What Is It? NT is the sonolucent zone at the posterior aspect of the fetal neck. This space represents the sonographic appearance of subcutaneous fluid behind the fetal neck.
  • 3. Sonographic Appearance of NT
  • 4. NUCHAL TRANSLUCENCY “Normal” Size Changes with Gestational Age
    • The “normal” nuchal translucency increases with gestational age
    • The NT measurement can only be performed with a CRL of 45 mm to 84 mm.
    • ~11 ½ weeks to ~14 weeks EGA
  • 5. NUCHAL TRANSLUCENCY Increases with Gestational Age
    • 3.4 mm is the 99 percentile for all gestational ages up to 14 weeks
    CRL 2.7 1.9 84mm 14 2 / 7 weeks CRL 2.1 1.2 45mm 11 2 / 7 weeks 95 percentile (mm) Median (mm)
  • 6. NUCHAL TRANSLUCENCY (NT) Why Measure It?
    • The risk of fetal GENETIC AND ANATOMIC birth defects increases as the nuchal translucency increases.
    • More sensitive & comprehensive than maternal serum analytes alone because an Abnormal NT will detect chromosomal abnormalities not detected by analytes
      • T13
      • Turners Syndrome
      • Triploidy
      • Sex Chromosome abnormalities
  • 7. NUCHAL TRANSLUCENCY Increase Size of NT Increase Risk of Genetic Birth Defect Obstet Gynecol:2006;107:6 75 > 8.5 65 ≥ 6.5 50 5.5 – 6.4 30 4.5 – 5.4 20 3.5 – 4.4 7 2.5 – 3.4 ½ are T 13, 18, 45x, Triploidy (%) 99 percentile = 3.4 mm (mm) ½ are T21 NT size mm
  • 8. NUCHAL TRANSLUCENCY (NT) Why Measure It?
    • ABNORMAL NT IS ASSOCIATED WITH ANATOMICAL DEFECTS NOT DETECTED BY SERUM SCREENING
  • 9. NUCHAL TRANSLUCENCY Increased NT with Normal Chromosomes Increased Risk of Cardiac or Other Major ANATOMIC ANOMALIES Souka AJOG 2005 ; 192: 1005 30 / 45 > 6.5 20 / 25 5.5 – 6.4 7 / 20 4.5 – 5.4 3 / 10 3.5 – 4.4 1 / 1 2.5 – 3.4 % / % Cardiac / Other Major NT size mm
  • 10. NUCHAL TRANSLUCENCY Why Measure It? Increases Sensitivity vs Maternal Analytes
    • QUAD screen < 35yo will
    • detect 68% of T21 at 16 weeks.
    • SERUM INTEGRATED < 35yo will
    • detect 77 % of T21 at 16 weeks.
    • FULL INTEGRATED < 35yo will
    • detect 85% of T21 at 16 weeks.
  • 11. NUCHAL TRANSLUCENCY Why Measure It?
    • Earlier results with analytes drawn as early as 10 weeks 0 days & NT performed @ 11 1/2 weeks. The CPSP allows an Instant Risk Calculation with the addition of the NT measurement when analytes are available.
    • If a woman is found to be at an increased risk for fetal aneuploidy, she can be offered genetic counseling and choose to proceed with CVS as early as 11 ½ weeks providing chromosome results @ 12 ½ weeks EGA
  • 12. COMPLETE THE SCREENING
    • For women < 35 yo t he first trimester combined result is PRELIMINARY and will detect ~ 62% of babies affected with a Down syndrome utilizing the CPSP screen positive cut off of 1 %.
    • To complete the full integrated CPSP program a second blood test ( Quad Screen) is required between 15 and 20 weeks which allows the test to detect an additional 20 % or more of Down syndrome babies for a final detection rate of ~ 85 %.
    • Overall < 5 % of patients may have a positive test in the second trimester indicating an increased risk for a genetic birth defect.
  • 13. NT MORE THAN 99 PERCENTILE 3.5 OR MORE FROM 45-84 MM
  • 14. NT > 99 % tile @ 3.5 mm or more
    • By Early spring 2011 an NT of 3.5 alone will be considered screen positive by the CPSP with no maternal analyte testing recommended for aneuploidy.
    • The result will be screen positive @ 1/5 and remain screen positive @ 1/5 regardless of additional maternal analyte results.
    • AFP and SLOS testing is still recommended between 15-20 weeks.
  • 15. NT 3.5 mm or Greater Level 2 Sono and Fetal Echo Recommended by ACOG & CPSP
    • Chromosomal abnormalities
    • Genetic syndromes
    • Cardiac Anomalies
    • Other structural anomalies
    • Fetal Infection
    • Fetal Anemia
    • Fetal Hypoproteinemia
    Souka AJOG 2005;192:1005-21 Kagan Obstet Gynecol 2006;107:6
  • 16. CYSTIC HYGROMA 50% RISK OF ANEUPLOIDY
  • 17. Other Sono Markers to evaluate T13 T 18 MEGACYSTIS 20% ANEUPLOIDY OMPHALOCELE 60% ANEUPLOIDY
  • 18. First Trimester Serum Analytes
    • PAPP -A Low levels in the first trimester have been associated with preeclampsia, fetal growth restriction, preterm birth, and fetal demise. PAPP-A levels less than the 5%tile are associated with a 1 to 4 %risk of pregnancy loss before 20 weeks, and increased risk of IUGR wit a PPV of up to 24%.
    • hHCG Low levels (below the 5%tile) in the first trimester have been associated with a 1-4% risk of pregnancy loss before 20 weeks. hHcg levels below the 1%tile have been associated with significantly increase drisk of IUGR with a PPV of 14%.
  • 19. First Trimester Serum Analytes
    • PAPP-A levels <5%tile (<0.38 MOM)
      • Serial ultrasounds at 26 and 32 weeks
      • Maternal education regarding s/s of PTL
      • Heightened clinical awareness of development of PIH and IUGR
      • Consider follow up appointments every 2 weeks after 20 weeks due to prematurity
      • Consider referral to perinatologist if concerns develop
  • 20. First Trimester Serum analytes
    • PAPP-A <1 st %tile (<0.23 MOM)
      • Serial ultrasound examinations monthly starting at 24 weeks
      • Maternal education regarding s/s of PTL
      • Heightened clinical awareness of development of PIH and IUGR
      • Serial antenatal testing beginning at 32-34 weeks
      • Consider follow up appointments every 2 weeks after 20 weeks due to prematurity. Refer to perinatology if concerns develop
  • 21. First Trimester Serum Analytes
    • hHcg <1 st %tile (0.38 MOM)
      • Serial ultrasound examinations at 26 and 32 weeks
      • Maternal education regarding s/s PTL
      • Consider appointments every 2 weeks after 20 weeks
      • Refer to perinatology if concerns develop