SA Maternal Serum Antenatal Screening (SAMSAS) Program

SA Pathology, Department of Genetics & Molecular Pathology, WCH site

Outline

Aim

The aim of the SAMSAS Programme 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 Programme 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 programme for the detection of open neural tube defects, Down syndrome and other pregnancy pathologies. http://www.wch.sa.gov.au/services/az/divisions/labs/geneticmed/birthdefect.html ,Updates, Nuchal Translucency Progress Reports and Publications

We are the longest running programme 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 20wks.

In September 2000 we commenced first trimester screening for pregnancies between 10 and 14 weeks.

We develop and manage our own software and algorithms, having one of the largest 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.

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) Programme exists to provide pregnant women with forewarning on those few occasions when a pregnancy does not proceed to a normal outcome.

The SAMSAS Programme offers screening for a range of fetal abnormalities such as neural tube defects (spina bifida and anencephaly), Down syndrome and some other conditions. The SAMSAS Programme 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 Programme 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 the booklet “ Information for parents about Maternal Serum Screening”. For this information please refer to the Information for Families section below.

Download and print the form here requires you have the pdf plugin.

Maternal serum screening is best ordered from the SAMSAS Programme using one of the Programme’s request forms (call (08) 8161 7285 for a supply). These come in pads of 25 with each request form accompanied by a copy of the booklet "Information for Parents about Maternal Serum Screening". This booklet 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. The instruction "send to WCH" should be clearly written upon the request form to ensure the request is forwarded to the SAMSAS Programme.

Ordering with Medical Director
With patient record open:
Click on "Obstetrics" tab (?located at the end of the tabs, eg documents, past history, letters etc)
Click on "Screening"
Table appears( mimicing our "gestational age assessment" area of our request form) labelled South Australian Maternal Serum Antenatal Screening.
Enter in gestational age information and weight.
Place SAMSAS request form (torn from pad) in printer and print.

Testing

Testing is performed every working day. 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 10 and 13 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 10w0d - 13w6d,
(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 booklet,
(f) send the blood specimen to the Women's and Children's Hospital, for interstate or remote areas check with SAMSAS on what services are available.

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 - 13w6d 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 booklets 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 and neural tube defects remains in place with the accepted timing of the blood sample being 14w0d 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

Further information
Electronic reporting is available in various forms, please contact SAMSAS for options.

Reallocation of telephone codes for the Women’s and Children’s Hospital has resulted in the first four digits of the SAMSAS number to be changed to 8161-.
Our new numbers are: telephone: (08) 8161 7285   fax: (08) 8161 8085
Our new website address is: http://www.wch.sa.gov.au/samsas.html

Our e-mail address is: samsas.program@health.sa.gov.au

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 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 but specify "send to WCH".

(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;
(c) send the blood specimen to Women’s and Children’s Hospital.

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, IMVS for the blood measurements. 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  (print information booklet from here)

What is screening for Neural Tube Defects and Down syndrome? 

What are Neural Tube Defects and Down syndrome?

What are the tests?

What can the tests tell?

What do ‘increased risk’ and ‘not at increased risk’ mean?

What are the further tests?

Will the screening tests detect all abnormalities in your baby?

Must you have further testing?

What happens if your baby is found to have a neural tube defect or Down syndrome?

Where can I get more information?

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

Increased risk of Neural tube defect

What does it mean? Is there something wrong with my baby?

Why have I got this report?

What is a neural tube defect?

What does "increased risk" mean?

What is the further testing?

Could my baby have something else?

Must I have further testing?

What happens if my baby is shown to have a neural tube defect?

Where can I get more information?

Increased risk of Down Syndrome

What does it mean? Is there something wrong with my baby?

Why have I got this report?

What does "increased risk" mean?

What is Down syndrome?

Must I have further testing?

What is the further testing?

Could my baby have something else?

What happens if my baby is shown to have Down syndrome?

Where can I get more information?

Other relevant information and related links

Spina Bifida and Hydrocephalus

Down Syndrome Society of South Australia Inc

Spina Bifida Association of Tasmania Inc
Telephone +61 3 6223 4537

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 (10 weeks to 13 weeks and 6 days)

First trimester screening for Down syndrome

SAMSAS is pleased to announce we can now offer combined ultrasound+biochemical screening for fetal Down sydrome in first trimester. This service is offered in a collaboration between SAMSAS and a number of ultrasonology practices who 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:

• Newsletter Updates 9, 10, 11 , 12 and 13
  
  
• Nuchal Translucency Progress Reports 1, 2, 3, 4, 5 , 6 and 7

Second Trimester Screening (14 weeks to 20 weeks)

Newsletters

The following newsletters are PDF files, or Printable Document Format (for printing or viewing), you will need to have the free PDF plug-in before you can access the files.

Update 7 - May 1999

What's in an "increased risk of Down syndrome" report? 

Update 8 - August 2000 

What’s in an “increased risk of NTD” report ?

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 10

First Trimester Service

Update 10

Box Plots of Affected Cases - First Trimester

Update 11 - June 2003

Down Syndrome Audit First Trimester Screening

Update 12 - November 2003

Age Specific Performance Data and Aid for Pre-Test Counselling

Update 13 - June 2007

Trends in Maternal Serum Screening and Invasive Prenatal Testing in SA Following Introduction of First Trimester Combined Screening

Nuchal Translucency Progress Report 1 - December 2001

Nuchal Translucency Progress Report 2 - May 2003

Nuchal Translucency Progress Report 3 - April 2004

Nuchal Translucency Progress Report 4 - April 2005

Nuchal Translucency Progress Report 5 - March 2006

Nuchal Translucency Progress Report 6 - February 2007

Nuchal Translucency Progress Report 7 - February 2008

Trisomy 18 Discussion Paper April 2005

Presentations

requires PDF plug-in

SA Maternal Serum Screening to date - March 2008

Trends in Screening for Down syndrome in South Australia 1995-2004 - Presentation SMFM (Abstract) 30, AJOG V195:6 Sup.S February 2007

Trends in Screening for Neural Tube Defects in South Australia 1986-2004 - Poster SMFM (Abstract) 643, AJOG V195:6 Sup.S February 2007

Biochemical Update Fetal Medicine Course - ASUM Presentation Sept 2005

1st and 2nd Trimester Markers and Pregnancy Outcome - ASUM Presentation Sept 2005

Screening for Down Syndrome - The Odds are with you - HGSA Fremantle Aug 2004

Performance of Second Trimester Maternal Serum Screening in South Australia - Aug 1998

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

The defintive version of this paper is available at www.blackwell-synergry.com; 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 

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

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

Supervising Technical Officer
Renata Esca

Technical Staff

Eva Martin
Lyn Raniolo

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

Head - Antenatal Screening Programme

Robert Cocciolone
Telephone: (08) 8161 7285
Facsimile:   (08) 8161 8085
Email: robert.cocciolone@health.sa.gov.au

Location

Department of Genetics & Molecular Pathology
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
SA Pathology, Department of Genetics & Molecular Pathology
4th Floor Rogerson Building
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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