VILLOCENTESI O AMNIOCENTESI? Vantaggi e svantaggi da una esperienza di analisi cromosomiche prenatali

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1 VILLOCENTESI O AMNIOCENTESI? Vantaggi e svantaggi da una esperienza di analisi cromosomiche prenatali Prof. Giuseppe SIMONI TOMA, Advanced Biomedical Assays, S.p.A. Controversie e nuove tecnologie nella diagnosi prenatale del primo trimestre: dal laboratorio alle procedure strumentali Bologna, 5 Aprile 2008

2 1994- January 15th 2008: AF AND CVS FREQUENCIES OF UNBALANCED FETAL KARYOTYPES AT AMNIOCENTESIS AND CVS AF N CASES UNBALANCED ABNORMALITIES* % INDICATION Maternal age 70, % Previous child/fetus with chr abnorm % Balanced chr abnorm. In parents % Increased risk at screening test 8, % Other 4, % TOTAL 84, (1.9%) CVS N CASES UNBALANCED ABNORMALITIES* % INDICATION Maternal age % Previous child/fetus with chr abnorm % Balanced chr abnorm. In parents % Increased risk at screening test % Other % TOTAL (4.25%) *UN B A L.A B N OR M. T R IS 21 T R IS 18 T R IS 13 SEX C H R.A N EUP L. M OSA IC S SUP ER N.M A R KER S D E N OVO R EA R R. D EL/ D UP OT H ER

3 TYPES OF UNBALANCED ABNORMALITIES FOUND AT AMNIOCENTESIS N CASES TRIS TRIS TRIS SEX CHR.ANEUPL ,X 53 OT H ER SEX C H R A B N 165 MOSAICS 219 SUPERN.MARKERS 47 TRIPLOIDS 27 OTHERS 158 TOTAL 1612 REL. PROPORTION (%) 43.24% 10.79% 4.47% 13.52% 13.59% 2.92% 1.67% 9.80% 3.29% 10.24% FREQUENCIES OF UNBALANCED FETAL KARYOTYPES AT AMNIOCENTESIS ACCORDING TO MATERNAL AGE N OF CASES N OF UNBALANCED ABNORMALITIES % AGE 35 years % < 35 years %

4 FREQUENCIES OF THE DIFFERENT TYPES OF UNBALANCED FETAL KARYOTYPES AT AMNIOCENTESIS ACCORDING TO MATERNAL AGE TRIS 21 TRIS 18 TRIS 13 SEX CHR.ANEUPL. 45,X OT H ER SEX C H R MOSAICS SUPERN.MARKERS TRIPLOIDS OTHERS SUBTOTAL TOTAL < 35Y N CASE (%) 35Y N CASE (%) 51 (29,1) 398 (49,7) 5 (2,9) 73 (9,1) 5 (2,9) 27 (3,4) 40 (22,9) 109 (13,6) 32 (18,3) 106 (13,2) 5 (2,9) 25 (3,1) 0 7 (4,0) 33 (18,9) 37 (21,1) 60 (7,5) 175 (17.9) 801 (82.1) (0,4) 8 (1,0) 101 (12,6)

5 TYPES OF UNBALANCED ABNORMALITIES FOUND AT CVS N CASES TRIS TRIS TRIS SEX CHR.ANEUPL ,X 102 OT H ER SEX C H R A B N 74 MOSAICS confirmed at AF 88 SUPERN.MARKERS 16 TRIPLOIDS 40 OTHERS 53 TOTAL 1310 REL. PROPORTION (%) 47.56% 17.56% 6.41% 13.44% 6.72% 1.22% 3.05% 4.05% 7.79% 5.65% FREQUENCIES OF UNBALANCED FETAL KARYOTYPES AT CHORIONIC VILLI SAMPLING ACCORDING TO MATERNAL AGE N OF CASES N OF UNBALANCED ABNORMALITIES % AGE 35 years 20, % < 35 years 5, %

6 FREQUENCIES OF THE DIFFERENT TYPES OF UNBALANCED FETAL KARYOTYPES AT CVS ACCORDING TO MATERNAL AGE TRIS 21 TRIS 18 TRIS 13 SEX CHR.ANEUPL. 45,X OT H ER SEX C H R A B N MOSAICS SUPERN.MARKERS TRIPLOIDS OTHERS SUBTOTAL TOTAL < 35Y N CASE (%) 35Y N CASE (%) 20 (29,0) 276 (53,8) 5 (7,2) 69 (13,5) 5 (7,2) 24 (4,7) 13 (18,8) 64 (12,5) 8 (11,6) 16 (23,2) 39 (7,6) 1 (1,4) 12 (2,3) 2 (2,9) 11 (2,1) 7 (10,1) 20 (3,9) 69 (11.9) 5 (7,2) (88.1) 9 (1,8) 55 (10,7)

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8 SUMMARY OF PRENATAL DIAGNOSIS OF MOSAICISM AT AMNIOCENTESES TYPE OF MOSAICISM Autosomes Sex chromosome Marker chromosome TOTAL N CASES % on total cases 219/84847=0,26%* *Frequencies of True Fetal Mosaicisms at CVS: 10,53% X 2.05% /100= 0.23%

9 VANTAGGI DELL ANALISI CITOGENETICA SUI VILLI CORIALI MARGINI DI TEMPO SUFFICIENTI PER INDAGINI SUPPLEMENTARI (FISH, ANALISI MOLECOLARI, MLPA ) IDENTIFICAZIONE DI MOSAICISMO SU VILLI CORIALI CONFERMA DEL MOSAICO NEGLI AMNIOCITI (TFM) ESCLUSIONE DI UPD FETALE NEI CASI DI CPM ASSOCIAZIONE DEL RITARDO DI CRESCITA FETALE IDIOPATICO CON CPM

10 Confined placental mosaicisms Kalousek D., 1984

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12 TIPO I TIPO II TIPO III

13 MOSAICISM IN CHORIONIC VILLI CONFIRMATORY AMNIOCENTESIS MOSAICISM IN AMNIOCYTES CONFIRMATORY FETAL BLOOD SAMPLING

14 RISULTATI Frequenze dei differenti tipi di mosaico mosaicismo CV: 498 (2,05%) 380 AF Table 1: Incidences of the different types of mosaicisms (CPM and TFM) found after chrionic villous and amniocytes karyotyping TYPE NATURE TROPHOBLAST MESENCHYME (direct) (culture) AMNIOCYTES RELATIVE FREQUENCIES I CPM Abnormal Normal Normal 36,58% (139/380) II CPM Normal Abnormal Normal 44,7% (170/380) III CPM Abnormal Abnormal Normal 8,1% (31/380) IV TFM Abnormal Normal Abnormal 1,58% (6/380) V TFM Normal Abnormal Abnormal 4.7% (18/380) VI TFM Abnormal Abnormal Abnormal 4,2% (16/380) *Summary of prenatal diagnosis of Mosaicisms at amniocentesis: 219/84847= 0.26% 10.53%* (40/380) (40/380) = 0.23% CVS = 0.23% CVS SAMPLES SAMPLES

15 RISULTATI Probabilità di conferma nel feto Table 2: Probabilities of confirmation on amniocytes of Mosaic or Non Mosaic abnormal cell line considering the different combinations of the affected placental tissues TROPHOBLAST MESENCHYME (direct) (culture) CONFIRMATION A N 4,14% (6/145) MA N Type IV/Type I+IV=3/112+3= 2,6% NMA N 3/27+3= 10% N A 9,6% (18/188) N MA Type V/Type II+V= 6/150+6= 3,8% N NMA 12/20+12= 37,5% A A 34% (16/47) MA MA Type VI/Type III+VI= 9/19+9= 28,5% NMA MA 3/9+3= 25% MA NMA 4/0+4= 100% NMA* NMA* 0/3+0= 0% A=Abnormal; N=Normal; MA=Mosaic Abn; NMA=Non Mosaic Abn;*exhotic chr

16 203 TOTAL CASES OF WHICH 51 INVOLVED AN IMPRINTED CHROMOSOME

17 VANTAGGI DELL ANALISI CITOGENETICA SU AMNIOCITI CELLULE DERIVATE DA DIVERSI TESSUTI E PARTI FETALE MIGLIORE RISOLUZIONE DEL BANDEGGIO CROMOSOMICO

18 REPORTED DETECTION RATES (d.r( d.r.).)

19 REPORTED DETECTION RATES Detection Rates SURUSS (U.K.) (n=47'507) FASTER (U.S.A.) (n=38'033) I TRIMESTER (9-13wg) MESUREMENTS (+MAT. AGE) TRIS 21* TRIS 21* TRIS 18 & OTHER Combined-1 NT+f-β-hCG 65% / / Combined-2 Combined-1+PAPP-A 83% 85% 78% Combined-3 Combined-2+AFP 84% / / Combined-4 Combined-3+uE3 86% / / *False Positive Rate: 5% False Positive Rate: 6% Detection Rates SURUSS (U.K.) (n=47'507) FASTER (U.S.A.) (n=36'171) II TRIMESTER (14-22wg) MESUREMENTS (+MAT. AGE) TRIS 21* TRIS 21* TRIS 18 & OTHER DOUBLE AFP+f-β-hCG 71% / / TRIPLE DOUBLE+uE3 77% 70% / QUADRUPLE TRIPLE+inhA 83% 81% 69% *False Positive Rate: 5% False Positive Rate: 8,9% Detection Rates SURUSS (U.K.) (n=47'507) FASTER (U.S.A.) (n=36'171) I+II TRIMESTER MESUREMENTS (+MAT. AGE) TRIS 21* TRIS 21* TRIS 18 & OTHER Integrated (NT+PAPP-A) + QUADRUPLE 93% 86% / *False Positive Rate: 5%

20 RELATIVE INCIDENCE OF +21,+18,+13,X0,TRIPLOIDS ON THE TOTAL FETAL CHROMOSOMOPATHY IN OUR SURVEY CV (582 cases with a significant chromosomopathy: Chr. Abnormality N Cases Relative % XXX and XYY excluded) <35 (69 abn. cases) 35 (513 abn. cases) TRIS % TRIS % TRIS % X % TRIPLOIDY 2 2.9% 37/ % TRIS % TRIS % TRIS % X % TRIPLOIDY % 389/ % AF (976 cases with a significant chromosomopathy: XXX and XYY excluded) <35 (175 abn. cases) 35 (801 abn. cases) Chr. Abnormality N Cases Relative % TRIS % TRIS % TRIS % X % TRIPLOIDY 0-68/ % TRIS % TRIS % TRIS % X % TRIPLOIDY 3 0.4% 509/ %

21 PERCENTAGES OF CHROMOSOMAL ABNORMALITIES ACTUALLY DETECTED BY PRENATAL SCREENING ON THE TOTAL FETAL CHROMOSOMOPATY (1) 1 TRIMESTER TRISOMY ,+13,X0,TRIPLOIDS 1 TRIMESTER age OBSERVED % a d.r. b DETECTABLE % a % c OBSERVED % a d.r. b DETECTABLE % a % c COMBINED-2 < % % 85% 24.6% -4.4% 45.7% -8.1% 24.6% (17/69) 22.0% (113/513) 78% 19.2% -5.5% 17.2% -4.8% 1 TRIMESTER age Σ% OBSERVED Σ% DETECTABLE % d COMBINED-2 < % 75.8% 43.8% 62.9% -9.80% % a ON TOTAL FETAL CHROMOSOMOPATHY b Best Reported Detection Rate c partial (DETECTABLE%-OBSERVED%) d total (DETECTABLE%-OBSERVED%)

22 PERCENTAGES OF CHROMOSOMAL ABNORMALITIES ACTUALLY DETECTED BY PRENATAL SCREENING ON THE TOTAL FETAL CHROMOSOMOPATY (2) 1I TRIMESTER TRISOMY ,+13,X0,TRIPLOIDS 2 TRIMESTER age OBSERVED % a d.r. b DETECTABLE % a % c OBSERVED % a d.r. b DETECTABLE % a % c DOUBLE TRIPLE QUADRUPLE DOUBLE TRIPLE QUADRUPLE < % % 71% 20.7% -8.4% 77% 22.4% -6.7% 83% 24.2% -4.9% 71% 35.3% -14.4% 77% 38.3% -11.4% 83% 41.2% -4.5% 9.7% (17/175) 13.9% (111/801) N.R. / / N.R. / / 69% 6.7% -3.0% N.R. / / N.R. / / 69% 9.6% -4.3% 2 TRIMESTER age Σ% OBSERVED Σ% DETECTABLE % d DOUBLE TRIPLE QUADRUPLE DOUBLE TRIPLE QUADRUPLE < % 63.50% / / 30.9% / / 50.8% -8.00% % a ON TOTAL FETAL CHROMOSOMOPATHY b Best Reported Detection Rate c partial (DETECTABLE%-OBSERVED%) d total (DETECTABLE%-OBSERVED%)

23 IN SUMMARY 100% TOTAL FETAL CHROMOSOMOPATHY 50% 43.8% 56% 62.9% 37% 30.9% 69% 50.8% 49% 0% DETECTABLE NOT DETECTED <35 35 < st TRIM-COMBINED 2nd TRIM-QUADRUPLE

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