Aneuploidy and NTD screening

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Presentation transcript:

Aneuploidy and NTD screening Karen Marchand, MS, CGC Lauren Briere, MS, CGC August 27, 2008 August 27th, 2008 Karen Marchand CGC & Lauren Briere CGC BIDMC OB/GYN RESIDENT DIDACTIC SESSION

Overview Markers First trimester screen Quad screen Sequential screen Interpretation factors Adverse outcomes August 27th, 2008 Karen Marchand CGC & Lauren Briere CGC BIDMC OB/GYN RESIDENT DIDACTIC SESSION

Nuchal Translucency Measured between 11w2d and 13w6d Increased: aneuploidy, malformations, parvo, genetic conditions > 3.0mm- offer CVS, plan for fetal cardiac echo after 20 weeks August 27th, 2008 Karen Marchand CGC & Lauren Briere CGC BIDMC OB/GYN RESIDENT DIDACTIC SESSION

(pregnancy-associated plasma protein A) PAPP-A (pregnancy-associated plasma protein A) Measured in 1st trimester Produced by placenta Decreased: trisomies 13, 18, and 21 August 27th, 2008 Karen Marchand CGC & Lauren Briere CGC BIDMC OB/GYN RESIDENT DIDACTIC SESSION

(human chorionic gonadotropin) hCG (human chorionic gonadotropin) Measured in 1st and 2nd trimesters (more sensitive in 2nd) Produced by placenta Increased: trisomy 21 Decreased: trisomies 13 & 18 August 27th, 2008 Karen Marchand CGC & Lauren Briere CGC BIDMC OB/GYN RESIDENT DIDACTIC SESSION

AFP (Alpha fetoprotein) Measured in 2nd trimester Produced by fetal liver Increased (>2.50 MoM): NTDs, AWDs . . . Decreased: Down syndrome August 27th, 2008 Karen Marchand CGC & Lauren Briere CGC BIDMC OB/GYN RESIDENT DIDACTIC SESSION

(unconjugated estriol) uE3 (unconjugated estriol) Measured in 2nd trimester Produced by placenta (precursors from fetal liver & adrenals) Decreased: trisomies 18 & 21, SLOS, STS August 27th, 2008 Karen Marchand CGC & Lauren Briere CGC BIDMC OB/GYN RESIDENT DIDACTIC SESSION

Inhibin Measured in 2nd trimester Produced by placenta Increased: trisomy 21 August 27th, 2008 Karen Marchand CGC & Lauren Briere CGC BIDMC OB/GYN RESIDENT DIDACTIC SESSION

First Trimester Screening Free beta hCG & PAPP-A (9w0d 13w6d) Nuchal translucency (11w2d13w6d) 85% detection rate for Down syndrome 90% detection rate for trisomies 18 & 13 Does not screen for fetal malformations August 27th, 2008 Karen Marchand CGC & Lauren Briere CGC BIDMC OB/GYN RESIDENT DIDACTIC SESSION

Nuchal translucency August 27th, 2008 Karen Marchand CGC & Lauren Briere CGC BIDMC OB/GYN RESIDENT DIDACTIC SESSION

August 27th, 2008 Karen Marchand CGC & Lauren Briere CGC BIDMC OB/GYN RESIDENT DIDACTIC SESSION

Quad Screen hCG, uE3, AFP, & Inhibin (15-21w) 75-80% detection rate for Down syndrome 65% detection rate for trisomy 18 85-90% detection rate for open defects Does not screen for trisomy 13 August 27th, 2008 Karen Marchand CGC & Lauren Briere CGC BIDMC OB/GYN RESIDENT DIDACTIC SESSION

Sequential screening First trimester screening PLUS Quad screening (through the SAME lab) >92% detection rate for Down syndrome & trisomy 18 ~90% detection rate for trisomy 13 ~85-90% detection rate for open defects August 27th, 2008 Karen Marchand CGC & Lauren Briere CGC BIDMC OB/GYN RESIDENT DIDACTIC SESSION

August 27th, 2008 Karen Marchand CGC & Lauren Briere CGC BIDMC OB/GYN RESIDENT DIDACTIC SESSION

Interpretation Factors Maternal age Gestational age # of fetuses (or recent twin demise) Maternal weight Maternal race Vaginal bleeding FHx NTD FHx trisomy Pre-existing IDDM Maternal AED use Smoking August 27th, 2008 Karen Marchand CGC & Lauren Briere CGC BIDMC OB/GYN RESIDENT DIDACTIC SESSION

Increased risk? Ultrasound If too early, redraw If dating off (>1 week) or twins, recalculate Dating correct: Aneuploidy – do not re-draw Open defect – redraw if AFP <3.0 MoM August 27th, 2008 Karen Marchand CGC & Lauren Briere CGC BIDMC OB/GYN RESIDENT DIDACTIC SESSION

(Risk factors are cumulative!) Adverse Outcomes Low PAPP- A: IUFD,IUGR, preterm delivery High hCG: IUFD, pre-eclampsia High AFP : IUGR, IUFD, preterm delivery, pre-eclampsia, placental abruption Low uE3: IUGR, IUFD High Inhibin: IUGR, preterm delivery, pre-eclampsia (Risk factors are cumulative!) August 27th, 2008 Karen Marchand CGC & Lauren Briere CGC BIDMC OB/GYN RESIDENT DIDACTIC SESSION