SOUTH AUSTRALIAN MATERNAL SERUM ANTENATAL …€¦ · SOUTH AUSTRALIAN MATERNAL SERUM ANTENATAL...

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SOUTH AUSTRALIAN MATERNAL SERUM ANTENATAL SCREENING (SAMSAS © ) PROGRAM “providing obstetric support” Robert Cocciolone, Head, Antenatal Screening, Department of Genetic Medicine, WCH www.wch.sa.gov.au/samsas.html

Transcript of SOUTH AUSTRALIAN MATERNAL SERUM ANTENATAL …€¦ · SOUTH AUSTRALIAN MATERNAL SERUM ANTENATAL...

Page 1: SOUTH AUSTRALIAN MATERNAL SERUM ANTENATAL …€¦ · SOUTH AUSTRALIAN MATERNAL SERUM ANTENATAL SCREENING (SAMSAS ©) PROGRAM “providing obstetric support” Robert Cocciolone,

SOUTH AUSTRALIAN MATERNAL SERUM ANTENATAL SCREENING (SAMSAS © ) PROGRAM

“providing obstetric support”

Robert Cocciolone,

Head, Antenatal Screening, Department of Genetic Medicine, WCH

www.wch.sa.gov.au/samsas.html

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SOUTH AUSTRALIAN MATERNAL SERUM ANTENATAL SCREENING (SAMSAS© ) PROGRAM

Longest running program in Australia,

-1978 Neural Tube Defect (NTD) screening

-1990/91 Down syndrome & other pregnancy pathologies(15-20wks).

- June 2001 First Trimester Down syndrome screening (10-14wks).

Develop and manage own software and algorithms, with one of the largest databases in Australia.

Services SA, TAS & NT.

Offer Screening service support to PMH in WA

Integrated with Neonatal Screening database.

Electronic access to Cytogenetic and Ultrasound reports.

Access to WCH pregnancy outcome data.

SAMSAS audits published in the SA Birth Defects Register Report.

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Pre Test InformationPost Test Information

Information for

Health Professionals

about Maternal Serum Screening

MSS is offered as a program with access to pre & post test information, counselling and diagnostic services – cvs, amnio& ultrasound.

www.wch.sa.gov.au/samsas.html

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SAMSAS©

Biochemical Markers;2nd Trimester 1st TrimesterAFP free ββββ hCG free ββββ hCGuE3 Papp-A

Other Markers; Nuchal Translucency

Maternal age Gestational age Maternal weight

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Background Risk of Background Risk of AneuploidyAneuploidy vsvs Maternal AgeMaternal Age

0.0001

0.001

0.01

0.1

1

10

20 25 30 35 40 44

Years

Risk %

↑↑ Trisomy 21Trisomy 21

↑↑ Trisomy 18Trisomy 18

↑↑ Trisomy 13Trisomy 13

47 xxx/47 xxx/xxy/xyyxxy/xyy

45x45x

TriploidyTriploidy

SnijdersSnijders et al 1995et al 1995

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SnijdersSnijderset al 1995et al 1995

65% Trisomy 2165% Trisomy 21

00

2020

4040

6060

8080

100100

1010 1515 2020 2525 3030 3535 4040

15% Trisomy 1315% Trisomy 13

12% Trisomy 1812% Trisomy 18

<1% <1% TriploidyTriploidy

95% 47xxx/xxy/xyy95% 47xxx/xxy/xyy

20% 45x20% 45x

%%

Background Risk of Background Risk of AneuploidyAneuploidy↓↓ with GAwith GA

Nicolaides et al., The 11-14-week scan, London 1999

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Age Specific Performance Comparison of 1st and 2nd Trimester Screening.

Maternal Age vs Recall and Detection

0.0

10.0

20.0

30.0

40.0

50.0

60.0

70.0

80.0

90.0

100.0

15 20 25 30 35 40 45

Maternal Age at Delivery

%

%RR 2nd %DR 2nd %RR 1st %DR 1st

RR

DR

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SAMSAS©

1 : 101 : 51 : 1Fetal loss per case of Down

syndrome detected

2040250Amniocenteses performed per case detected

First trimester combined screening

Second trimester

biochemical screening

Maternal Age Screening alone

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Marker Levels Change Significantly with Gestation

Measured levels are converted toMultiples Of the Population Median or MoM values.

Reference is therefore 1 MoM

beta hCG at 10 wks GA

Patient 120 IU/L = 2 multiples Median 60 IU/L

MoMs are independent of gestational age and concentration Units

LogMoM values are used in calculations as they exhibit a Gaussian distribution ( Mean +/- SD)

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492492492N =

Unaffected 2nd Trimester

UE3_MOMBHCG_MOMSAFP_MOM

3

2

1

0490490490490N =

Unaffected 1st Trimester

PAPP_A_MoMBHCG_MOMSAFP_MOMNT_MOM

3

2

1

0

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RISKS

1. Open Neural Tube Defects (NTD) 2. Down syndrome3. Other

NTD Down syndrome

2nd Trimester 1st & 2nd Trimester↑ AFP ≥ 2 MoM ↑ Risk ≥ 1 in 300Independent of Maternal Age Age DependentMorphology scan CVS / Amnio

~ 1/30 will have a NTD ~ 1/20 or 1/40 will have DS

Other Not NTD & Not DS: AFP < 2 MoM & DS risk is < 1 in 300But

Biochemical results fall outside the Normal expected.

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A review of SAMSAS pregnancies screened N = 67,965. 1,976 or 2.9% had a raised AFP > 2 MoM. Conditions found in the raised AFP group. NTD 61 (1 in 32)

32 anencephaly 27 meningomyelocoele 2 encephalocoele

Other Fetal Anomalies 19 (1 in 104)

5 exomphalocoele 9 gastroschisis 2 triploidy 2 trisomy 13 1 Turner syndrome

FDIU 48 (1 in 41) Fetal death at time of screen

Other Pregnancy Complications subsequent to maternal serum screen.

75 (1 in 26)

Missed Abortion, PROM, stillbirth, other fetal demise.

Unsuspected Twins 47 (1 in 42)

TOTAL ANOMALIES IN RAISED

AFP GROUP 250 ( 1 in 8)

NAD in 1726/1976 or 87.4% with raised maternal serum AFP.

NTDAnencephaly 2nd Trimester

UE3_MOMBHCG_MOMSAFP_MOM

10

9

8

7

6

5

4

3

2

1

0

Gastroschisis 2nd Trimester

UE3_MOMBHCG_MOMSAFP_MOM

10

9

8

7

6

5

4

3

2

1

0

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A review of SAMSAS pregnancies screened N = 65,328. 3,481 or 5.3 % were reported at increased risk for Down syndrome. Conditions found in the increased risk group. Down syndrome 84 (1 in 41)

T18, T13, Triploidy 9 (1 in 386)

Male & Female Sex Chromosome Abnormalities

12 (1 in 290)

Unbalanced & balanced de novo karyotypes

4 (1 in 870)

Balanced Translocations or inversions 17 (1 in 204) TOTAL ANOMALIES in increased

risk group 126 (1 in 28)

NAD in 3355/3481 or 96.4% with an increased risk report.

Down syndrome

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T18 2nd Trimester

UE3_MOMBHCG_MOMSAFP_MOM

5.0

4.0

3.0

2.0

1.0

0.0

Triploidy 2nd Trimester

UE3_MOMBHCG_MOMSAFP_MOM

5

4

3

2

1

0

T21 2nd Trimester

UE3_MOMBHCG_MOMSAFP_MOM

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2

1

0

Turners 2nd Trimester

UE3_MOMBHCG_MOMSAFP_MOM

5

4

3

2

1

0

Diandric

Digynic

(GA Overestimate)

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Down syndrome First Trimester

PAPP_A_MoMBHCG_MOMNT_MOM

6

5

4

3

2

1

0

Trisomy 18 First Trimester

PAPP_A_MoMBHCG_MOMNT_MOM

8

7

6

5

4

3

2

1

0

Turners syndrome First Trimester

PAPP_A_MoMBHCG_MOMNT_MOM

8

7

6

5

4

3

2

1

0

Triploidy First Trimester

PAPP_A_MoMBHCG_MOMNT_MOM

9

8

7

6

5

4

3

2

1

0

Digynic

Diandric

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AneuploidyPapp-A↓

AneuploidyUE3↓

Aneuploidy Beta hCG↓

AneuploidyBeta hCG↑

AneuploidyAFP↓

Congenital Abnormality/Twins/Non ViabilityAFP↑

ConditionMarker

~thus far~

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Not NTD & Not Downs Profiles

SAMSAS screened pregnancies N=62,563

1st Trimester N= 26,914 2nd Trimester N= 35,649

Profile

Non Downs

N= 206 (0.77%)

Profile

Not NTD Not Downs

N= 123 (0.35%)

Total N = 329 (0.53%)

OUTCOMES

NOT KNOWN

N = 25 (7.6%)

NORMAL

N = 103 (31.3%)

FETAL DEATH

N = 171 (52%)

ABNORMAL

N = 30 ( 9.1%)

9 x Triploidy, 9 x T18

3 x T15, 3 x Anenceph.1st Tr

2 x Turners, 2 x Mult. Abn.

2 x Metabolic

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Frequency of death and/or major anomaly in fetuses with an Frequency of death and/or major anomaly in fetuses with an increased nuchal translucency and a normal increased nuchal translucency and a normal karyotypekaryotype

Death or major anomalyDeath or major anomaly

69%69%

> 6.5 mm

14%14%

3.5-4.42.5-3.4NTNT

3%3%

5.5-6.4

33%33%

4.5-5.4

23%23%

NicolaidesNicolaides KH. Fetal nuchal translucency. Am J KH. Fetal nuchal translucency. Am J ObstetObstet GynecolGynecol 20042004

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1st Trimester ? Fail

PAPP_A_MoMBHCG_MOMSAFP_MOM

3

2

1

0

•N= 149

•Not Known= 4

•Normal= 2 (Obese~no NT)

•Fetal Death= 137

•Abnormal= 6 (1xTriploidy,2xXO,2xT15,1xAnencephaly)

•Anomalies Found 143/145

•Odds 1/1 ( 98.6%)

Not viable at time of screen.

No NT measured

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1st Trimester ? Fail

PAPP_A_MoMBHCG_MOMSAFP_MOM

3

2

1

0

•N= 149

•Not Known= 4

•Normal= 2 (Obese~no NT)

•Fetal Death= 137

•Abnormal= 6 (1xTriploidy,2xXO,2xT15,1xAnencephaly)

•Anomalies Found 143/145

•Odds 1/1 ( 98.6%)

Not viable at time of screen.

No NT measured

•N= 57

•Not Known= 7

•Normal= 39

•Fetal Death= 3

•Abnormal= 8 (4xTriploidy,1xT18,1xOther,1xAnencephaly,1xRenal)

•Anomalies Found 11/50

•Odds 1/4.5 ( 22%)

1st Trimester Not Downs

PAPP_A_MoMBHCG_MOMSAFP_MOMNT_MOM

3.0

2.0

1.0

0.0

Viable at time of screen.

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2nd Trimester ? Fail

UE3_MOMBHCG_MOMSAFP_MOM

3

2

1

0

•N= 24

•Not Known= 2

•Normal= 0

•Fetal Death= 18

•Abnormal= 4(2xT18,1xAnencephaly,1xMultiple Con. Abn.)

•Anomalies Found 22/22

•Odds 1/1 (100%)

Not viable at time of screen.

No NT measured

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2nd Trimester ? Fail

UE3_MOMBHCG_MOMSAFP_MOM

3

2

1

0

2nd Trimester Not NTD Not Downs

UE3_MOMBHCG_MOMSAFP_MOM

3

2

1

0

•N= 24

•Not Known= 2

•Normal= 0

•Fetal Death= 18

•Abnormal= 4(2xT18,1xAnencephaly,1xMultiple Con. Abn.)

•Anomalies Found 22/22

•Odds 1/1 (100%)

•N= 99

•Not Known= 12

•Normal= 62

•Fetal Death= 13

•Abnormal= 12(4xTrip.,6xT18,1xMultiple Con. Abn.,1xMetabolic)

•Anomalies Found 25/87

•Odds 1/3.5 ( 28.6%)

Not viable at time of screen.

No NT measured

Viable at time of screen.

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1st Trimester ? Fail

PAPP_A_MoMBHCG_MOMSAFP_MOM

3

2

1

0

1st Trimester Not Downs

PAPP_A_MoMBHCG_MOMSAFP_MOMNT_MOM

3.0

2.0

1.0

0.0

2nd Trimester ? Fail

UE3_MOMBHCG_MOMSAFP_MOM

3

2

1

0

2nd Trimester Not NTD Not Downs

UE3_MOMBHCG_MOMSAFP_MOM

3

2

1

0

Mat. Age = 32.3 Mat. Age = 30.4

Mat. Age = 32.1 Mat. Age = 29.0

Maternal Age in Failed groups was sig. older P < 0.05.

This comparison suggests an association between early pregnancy loss and maternal age.

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≤ 0.5 MoMAneuploidy/Non ViabilityPapp-A↓

≤ 0.5 MoMAneuploidy/Non ViabilityUE3↓

≤ 0.5 MoMAneuploidy/Non ViabilityBeta hCG↓

≥ 2 MoMAneuploidy/Non ViabilityBeta hCG↑

≤ 0.5 MoMAneuploidy/Non ViabilityAFP↓

≥ 2 MoMCongenital Abnormality/Twins/Non ViabilityAFP↑

Significant LevelsConditionMarker

~rule of thumb~ ≤ 0.5 MoM or ≥ 2 MoM means likely poor outcome

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SAMSAS T21 & Non NTD Non Downs distributions

0

0.1

0.2

0.3

0.4

0.5

0.6

0.7

0.8

0.9

1

1.1

1.2

-3 -2 -1 0 1 2 3 4 5 6 7

Discriminatory variable

T21

Non NTD Non Downs

UnaffectedThe best way to detect these pregnancies is through discriminatory algorithms and distributions as we do for T21, utilizing multiple markers.

False -ves

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Pregnancy Outcome Unit Epidemiology Branch

Department of Health Adelaidehttp://www.dh.sa.gov.au/pehs/pregnancyoutcome.htm

• Perinatal Mortality Rate for SA in 2003 was 0.99% of all Births (≥400g/20wks)

Exclude Deaths due to: Include Deaths due to:

1. Infection 1. Spontaneous Preterm <37wks2. Antepartum Haemorrhage 2. IUGR3. Haemolytic Disease 3. Unexplained IUD4. Maternal Disease 4. Hypertension/Pre-eclampsia5. Birth Trauma & Intrapartum Asphyxia 5. Fetal Abnormality

Goetzel et al First Trimester Markers and Pregnancy Loss, Obstet Gynecol 2004;104:30-6.

Corrected Mortality Rate = 0.73%SAMSAS Recall Rate = 0.53%Differential of 0.2% = Miss Rate. Equivalent to 1/500 pregnancies.

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Missed 1st Trimester Fetal Deaths

PAPP_A_MoMBHCG_MOMSAFP_MOMNT_MOM

3.0

2.5

2.0

1.5

1.0

.5

0.0

Missed 2nd Trimester Fetal Deaths

UE3_MOMBHCG_MOMSAFP_MOM

3

2

1

0

1st Trimester Not Downs

PAPP_A_MoMBHCG_MOMSAFP_MOMNT_MOM

3.0

2.0

1.0

0.0

2nd Trimester Not NTD Not Downs

UE3_MOMBHCG_MOMSAFP_MOM

3

2

1

0

Detected Detected

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What does a risk report mean? % Recall % Det. ODDS

Adverse Outcome

ODDS Affected

Miss Rate

2nd Tr Raised NTD

Risk

3% >90% 1 / 8 1 / 30 1 / 10,000

2nd Tr Raised DS

Risk

5% 65% 1 / 30 1 / 40 1 / 2,500

1st Tr Raised DS

Risk

5% 90% 1 / 10 1 / 20 1 / 3,500

Not NTD Not Downs ? Viability

0.5% 75% 1 / 4 1 / 500

Summary data ~ SAMSAS yearly audits SA Birth defects Register Reports

Reassurance of ≥≥≥≥ 99.8 % & Anomaly Risk of 2.5 – 25%

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“providing obstetric support”Helen Liston

Lyn Raniolo

Renata Bird

Diana Penhall

Chris Rothe

Eva MartinLeonie Thomas

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Search ResultsSearch based on Trisomy 18 as keyword

Trisomy 1845 Patients

28/45MSS & U/S Data8/28

Increased MSS T18 Risk

20/28No MSS T18

Risk

“Normal”Livebirths from

Guthriecard search

4/8Normal

Karyotype

4/8Trisomy 18

Positive Predictive Value 1 in 2

Jeffrey Siegmann, ASUM 1999

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RISKS

1. Open Neural Tube Defects (NTD) 2. Down syndrome3. Other ( + Edwards syndrome)

NTD Down syndrome Edwards syndrome

2nd Trimester 1st & 2nd Trimester 1st & 2nd Trimester ↑ AFP ≥ 2 MoM ↑ Risk ≥ 1 in 300 ↑ Risk ≥ 1 in 300Independent of Maternal Age Age Dependent Age Dependent

Morphology scan CVS / Amnio Morphology scan CVS / Amnio

~ 1/30 will have a NTD ~ 1/20 or 1/40 ~1/10 or 1/20will have DS

Other

Not NTD & Not DS : AFP < 2 MoM & DS risk is < 1 in 300But

Biochemical results fall outside the Normal expected.

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Twins 2nd Trimester

UE3_MOMBHCG_MOMSAFP_MOM

10

9

8

7

6

5

4

3

2

1

0

T13 2nd Trimester

UE3_MOMBHCG_MOMSAFP_MOM

5

4

3

2

1

0

-1

Spina Bifida 2nd Trimester

UE3_MOMBHCG_MOMSAFP_MOM

10

9

8

7

6

5

4

3

2

1

0

Gastroschisis & Spina Bifida 2nd Trimester

OUTCOME

Spina Bif idaGastroschisis

10

9

8

7

6

5

4

3

2

1

0

SAFP_MOM

BHCG_MOM

UE3_MOM