SA Maternal Serum Antenatal Screening (SAMSAS) Program

SA Pathology
Genetics and Molecular Pathology Directorate, WCH site

Aim

The aim of the SAMSAS Program is to provide information and support to obstetricians, general practitioners and midwives as they manage the pregnancies under their care. To this end the SAMSAS Program maintains a close liaison with ultrasonographers, health centres, antenatal clinics and counselling support structures.

Who are we?

We are an accredited laboratory providing an audited antenatal screening program for the detection of open neural tube defects, Down syndrome and other pregnancy pathologies. Refer to SAMSAS

Updates

Nuchal Translucency Progress Reports

Presentations

Publications

SA Birth Defects Register Reports.

We develop and manage our own software and algorithms, having one of the largest audited databases in Australia. Our software system is integrated with the State Neonatal Screening database. Our audits are published in the SA Birth Defects Register Reports.

We are the longest running program in Australia:

• In 1978 we introduced screening for open neural tube defects.
• In 1990/91 we commenced screening for Down syndrome & other pregnancy pathologies for pregnancies in the second trimester period between 15 and 20 wks.
• In September 2000 we commenced first trimester screening for pregnancies between 10 weeks and 13 weeks 6 days.
• In April 2009 the first trimester screening window was lowered to 9 weeks for maternal blood samples, refer to Update 14.
• August 2009 Revised Age Specific Performance Data and Counselling Aid, refer to
  Update 15.

What do we do?

Most pregnancies end with the birth of a normal, healthy baby. A few do not.

The South Australian Maternal Serum Antenatal Screening (SAMSAS) Program exists to provide pregnant women with forewarning on those few occasions when a pregnancy does not proceed to a normal outcome.

The SAMSAS Program offers screening for a range of fetal abnormalities in both singleton and twin pregnancies, such as neural tube defects (spina bifida and anencephaly), Down syndrome, Trisomy 18 and some other conditions. The SAMSAS Program provides information for parents about the testing procedures used and about the choices available should the screening results show a possibility of an abnormal pregnancy.

All testing is voluntary, and there are no preconditions to the extent of testing.

The SAMSAS Program supports women in their choice and the healthcare professionals who are supporting them in the management of their pregnancy.

How to access the service

Ordering a maternal serum screening test

Specific request forms are recommended for this type of service as they distinguish this testing from other routine serology performed during pregnancy. Our specific request forms contain the information required to order the testing and are recommended to be used in conjunction with pre-test information for parents “ Screening for Neural Tube Defects, Down syndrome and Trisomy 18”. For this information please refer to the Information for Families section below.

Download and print the form (493kb)

Maternal serum screening is best ordered from the SAMSAS Program using one of the Program’s request forms (call (08) 8161 7285 for a supply). These come in pads of 50 with each request form accompanied by a copy of pre-test information for parents, “Screening for Neural Tube Defects, Down syndrome and Trisomy 18”. This sheet is provided to facilitate pre-test counselling about the procedure. It is for parents to take away with them.

In the absence of a SAMSAS request form a standard pathology request form can be used, but as a minimum we require the patient's DOB, weight in kilos, gestation and the name of the imaging group for a 1st trimester screen. Send samples to SA Pathology.

Testing
Mothers can have their blood specimen taken at any one of the blood collection centres around the State. They do not have to come to the Women’s and Children’s Hospital for blood collection. Specimen required is 5-10 mL clotted blood.

For first trimester screening

Requesting first trimester screening:
Two request forms are required, one for the blood analysis and one for the nuchal translucency ultrasound scan.

Blood Analysis

1.  5-10 mL clotted blood sample, taken between 9 and 14 weeks gestation is required. A list of collection centres is provided on the reverse of the SAMSAS request form.
2.  Use a SAMSAS request form, telephone (08) 8161 7285 if you require some of these:
(a) the test request is “first trimester screen",
(b) complete the gestational age information, the gestation must be between 9w0d - 14w0d,
(c) specify the ultrasound practice performing the nuchal translucency scan,
(d) refer patient to the Privacy Disclosure on the SAMSAS request form,
(e) give the patient the SAMSAS pre-test information sheet,
(f) send the blood specimen to SA Pathology.

Ultrasound
3.  Book a Nuchal Translucency scan with the imaging group of choice. The imaging group must have accredited sonographers to perform Nuchal Translucency scans. If uncertain, check with the practice providing this service. The fetus must be between 11w0d – 14wk0d gestation at the time of the scan
4.  Complete an ultrasound request form, specifying “risk of fetal abnormality”; and "Copy to SAMSAS". To comply with the National Privacy Legislation and Fair Information Code, refer patient to the Privacy Disclosure on the SAMSAS request form.

SAMSAS will coordinate the results with the ultrasound practice and you will receive a single report giving the risks calculated for the pregnancy. Post-test information sheets are provided with all reports issued by SAMSAS on pregnancies found at increased risk of fetal abnormality.

Availability of first trimester screening
Combined ultrasound and biochemistry screening is not at present offered through all hospitals/clinics or ultrasound practices. Check with the hospital/clinic or ultrasound practices concerned.

Costs
For privately insured patients SAMSAS continues its policy of accepting ‘Medicare only’ for the serum biochemistry analyses. There may be a gap payment for the ultrasound measurement. Check with the practice providing this service.

Second trimester screening of pregnancies for fetal Down syndrome, , Trisomy 18 and neural tube defects remains in place with the accepted timing of the blood sample being 14w1d to 20w6d. We recommend that if a pregnancy is screened in first trimester then any request in second trimester be confined to a Neural Tube Defect (NTD) only screen. Please note that first trimester screening does not include detection of fetal Neural Tube Defects.

Gestational Age Windows for Antenatal Screening for Birth Defects

For second trimester screening

The following procedure will ensure the best results:

1.  As soon as a patient decides she wants the screening test, arrange for the blood measurements.

2.  A 5-10 mL clotted blood specimen is required. This can be taken at the same time as the antenatal serology specimen, on or after 14 weeks and 1 day gestation. Your usual blood collection arrangements can be used. Your patient does not have to come to the Women’s and Children’s Hospital for this collection.

3.  Use a SAMSAS request form (telephone (08) 8161 7285 if you require some of these, or download it from this site), or your regular pathology request form.
(a) The test request is "second trimester screen";
(b) complete the gestational age information (weeks+days and date estimated, or EDD). This will be amended if necessary by SAMSAS when the ultrasound scan information is available;

Results
The blood results will be forwarded automatically to the requesting doctor. SAMSAS will be following the outcome of all screened patients through their usual audit procedures to ensure the continuation of effective screening practice.

Costs
Patients will receive an account from SA Pathology. This account will be fully covered by Medicare.

Further information
Electronic reporting is available in various forms, please contact SAMSAS for options.
Please don’t hesitate to call SAMSAS ((08) 8161 7285 or e-mail) if there are any concerns or questions you may have about SAMSAS antenatal screening services.

Information for Families

Information about Antenatal Screening Tests

Contents

> What is screening for Neural Tube Defects, Down syndrome and Trisomy 18?
> What are Neural Tube Defects, Down syndrome and Trisomy 18?
> What are the tests?
> What can the tests tell?
> What do ‘increased risk’ and ‘not at increased risk’ mean?
> What are the further tests?
> Must you have further testing?
> Will the screening tests detect all affected pregnancies?
> What happens if your baby is found to have a Neural Tube Defect, Down syndrome or
    Trisomy 18?
> Where can I get more information?

What does it mean if I get a “high risk result“?

Increased risk of Neural tube defect

Increased risk of Down Syndrome

Increased risk of Trisomy 18

Other relevant information and related links

Spina Bifida  (healthdirect Australia)

Hydrocephalus  (healthdirect Australia)

Down Syndrome Society of South Australia Inc

Forms

Forms for ordering a maternal serum screening test are described in the section " How to access the service" above.

Resources/Publications/Research Activities

First Trimester Screening (9 weeks to 14 weeks and 0 days)

First trimester screening for Down syndrome - refer to Publication and Presentation sections for detailed SAMSAS data.

SAMSAS is pleased to announce we can now offer combined ultrasound+biochemical screening for fetal Down syndrome in first trimester. This service is offered as a collaboration between SAMSAS and a number of Medical Imaging practices who are FMF accredited and can offer nuchal translucency measurements.

Medical literature indicates that this combined approach provides a greater detection of fetal Trisomy 21 (up to 90%) at a lower false positive rate (around 5%) than either serum biochemistry or early ultrasound screening can when used separately (see table). SAMSAS is collecting its data and working with other centres interstate to establish an Australian Standard for first trimester screening.

For further information please see the following:

• Newsletter Updates
• Nuchal Translucency Progress Reports

Second Trimester Screening (14 weeks to 20 weeks)

Newsletter Updates

Update 16 - January 2017

Update 15 - August 2009
      - Revised Age Specific Performance Data and Counselling Aid

Update 14 - March 2009
      - Changes to Maternal Serum Screening

Update 13 - June 2007
      - Trends in Maternal Serum Screening and Invasive Prenatal Testing in SA Following Introduction of First Trimester Combined Screening

Update 12 - November 2003
      - Age Specific Performance Data and Counselling Aid

Update 11 - June 2003
      - Down Syndrome Audit First Trimester Screening

Update 10a
      - First Trimester Service

Update 10b
      - Box Plots of Affected Cases - First Trimester

Update 9 for South Australia - July 2001
      - Welcome to First Trimester Screening
      - Locations for First Trimester Nuchal Translucency Scans in SA

Update 9 for Tasmania - October 2001
      - Welcome to First Trimester Screening
      - Locations for First Trimester Nuchal Translucency Scans in TAS

Update 8 - August 2000
      - What's in an "increased risk of NTD" report ?

Update 7 - May 1999
     - What's in an "increased risk of Down syndrome" report? 

Trisomy 18 Discussion Paper April 2005

Nuchal Translucency Progress Report 12 - January 2013

Nuchal Translucency Progress Report 11 - January 2012

Nuchal Translucency Progress Report 10 - November 2010

Nuchal Translucency Progress Report 9 - January 2010

Nuchal Translucency Progress Report 8 - February 2009

Nuchal Translucency Progress Report 7 - February 2008

Nuchal Translucency Progress Report 6 - February 2007

Nuchal Translucency Progress Report 5 - March 2006

Nuchal Translucency Progress Report 4 - April 2005

Nuchal Translucency Progress Report 3 - April 2004

Nuchal Translucency Progress Report 2 - May 2003

Nuchal Translucency Progress Report 1 - December 2001

Publications

ADAM12 A promising new maternal serum marker in screening for Down syndrome in both first and second trimesters of pregnancy. Poster
Robert Cocciolone, Renata Bird, Eva Martin, Diana Penhall, Lyn Raniolo (HGSA ASM, Adelaide SA, August 2008)

Combining first and second trimester markers for Down syndrome screening: Think twice
Robert Cocciolone, Kate Brameld, Peter O'Leary, Eric Haan, Peter Muller, Karen Shand   Aust N Z J Obstet Gynaecol 2008; 48: 492-500 - Authors' Version
The definitive version of this paper is available at
http://www3.interscience.wiley.com/cgi-bin/fulltext/121476797/PDFSTART

Trends in state/population-based Down syndrome screening and invasive prenatal testing with the introduction of first-trimester combined Down syndrome screening, South Australia, 1995-2005
Muller PR, Cocciolone R, Haan EA, et al Am J Obstet Gynecol 2007;196:315.e1-315.e7.
Editorial &Paper

Karyotypes found in the population declared at increased risk of Down syndrome following maternal serum screening
Richard G. Ryall et al. Prenatal Diagnosis 2001; 21: 553-557 - Authors' Version

The impact of maternal serum screening on the birth prevalence of Down’s syndrome and the use of amniocentesis and chorionic villus sampling in South Australia
Tracy Cheffins et al. British Journal of Obstetrics and Gynaecology December 2000, Vol 107, pp. 1453-1459 

Improved performance in a prenatal screening programme for Down syndrome incorporating serum-free hCG subunit analyses
R.G. Ryall et al. Prenatal Diagnosis, Vol. 12, 251-261 (1992)

Epidemiology of Down syndrome in South Australia, 1960-89
Alan J. Staples et al.  Am. J. Hum. Genet. 49:1014-1024, 1991

Hours

Monday to Friday 9am – 5pm

Contact Information

Laboratory Staff

Dannielle Ghezzi  - Supervising Technical Officer
Christine Blunsden - Technical Officer(part time)
Geraldine Slack – Data entry and Admin officer

Khoa Lam - Scientist

Telephone: (08) 8161 7285
Facsimile:   (08) 8161 8085
Email: samsas.program@health.sa.gov.au

Head Scientist - Antenatal Screening Program

Enzo Ranieri
Telephone: (08) 8161 6739
Facsimile:   (08) 8161 8085
Email: enzo.ranieri@sa.gov.au

Associated staff

Dr Michael Metz

Ms Elizabeth Gjerde

Location

Department of Biochemical Genetics
4th Floor Rogerson Building
Women’s & Children’s Hospital
72 King William Road
North Adelaide
South Australia 5006

Mailing Address

South Australian Maternal Serum Antenatal Screening (SAMSAS) Program
Department of Biochemical Genetics
4th Floor Rogerson Building
SA Pathology (at Women’s & Children’s Hospital)
72 King William Road
North Adelaide South Australia 5006

Phone/Fax/Email

Phone : 08 8161 7285
Fax:      08 8161 8085
Email: samsas.program@health.sa.gov.au

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last modified: 20 Nov 2018

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