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Acknowledgement
The Women's and Children's Hospital is located on the traditional lands for the Kaurna people, and we respect their spiritual relationship with their Country. We also acknowledge that the Kaurna people are the custodians of the Adelaide region, and that their cultural and heritage beliefs are still as important to the living Kaurna people today.

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SA Maternal Serum Antenatal Screening Program

SAMSAS aims to provide information and support to obstetricians, general practitioners and midwives as they manage the pregnancies under their care. SAMSAS liaises with ultrasonographers, health centres, antenatal clinics and counselling supports.

The South Australian Maternal Serum Antenatal Screening Program (SAMSAS) is an accredited laboratory service providing comprehensive risk assessment for the detection of Down syndrome (trisomy 21) and other autosomal aneuploidies, and for open neural tube defects (NTD).

SAMSAS utilises a population specific algorithm within its specialised SA Pathology software, and has the largest audited database in Australia. Together with a long experience of service provision, we are able to provide the highest performance of any program nationally or internationally. The programme is internally audited annually, and these audits are published in the SA Birth Defects Register Reports. In addition, the laboratory is audited triennially by a national accreditation agency, and participates routinely in international External Quality Assurance programs.

The SAMSAS goal is to provide clear and precise risk information and support to

  • Women and their families, enabling them to make the best decisions for the future management of their family; and
  • Obstetricians, general practitioners and midwives as they manage the pregnancies under their care.

To facilitate this, the SAMSAS Program works closely with radiology clinics, health care centres, antenatal clinics and counselling support groups to ensure all necessary information is available to generate sound risk assessment.

To assist in achieving these goals, we provide:

  • Updates
  • Nuchal Translucency Progress Reports
  • Presentations
  • Publications
  • SA Birth Defects Register Reports

History

SAMSAS is the longest continuously running antenatal maternal serum screening program in Australia, with a long history of providing a world-class service.

  • In 1978 we introduced screening for open neural tube defects.
  • In 1990/91 we commenced screening for Down syndrome and other pregnancy pathologies for pregnancies in the second trimester period between 15 and 20 weeks.
  • In September 2000 we commenced first trimester screening for pregnancies between 10 weeks and 13 weeks 6 days.
  • We now perform screening from between 9 weeks to 20 weeks 6 days.

SAMSAS tests over 20,000 pregnancies (about 85%) each year, from South Australia, Tasmania and Northern Territory. First trimester tests account for the great majority (> 90%). SAMSAS screening detects nearly 96% of fetuses with Down syndrome with first trimester screens and > 90% with second trimester screens.

What SAMSAS screens for

The SAMSAS Program is designed to detect an increased risk of a pregnancy being affected by Down syndrome, or by an open neural tube defect. In either case, further diagnostic testing is necessary to confirm the increased risk.

Trisomy 18 or Trisomy 13, both of which are fatal within a few weeks of birth, can also be detected although with a slightly lower success rate. In addition, we may identify potential cases of fetal Triploidy and Turner syndrome and also in second trimester, cases of the very rare Smith Lemli Opitz and Cri Du Chat syndromes and X-linked Ichthyosis. Although these last two have been detected in similar programmes, detection cannot be guaranteed.

The mechanics of screening

Screening, which is voluntary, may be performed during either the first trimester or the second trimester, as in the chart below:

Gestational age timeframe for antenatal screening

First trimester

  • Blood sample 9w0d – 14w0d, optimal gestation 10 – 12 weeks
  • Ultrasound 11w0d – 14w0d, optimal gestation 11 – 12 week

Second trimester

  • Blood sample 14w1d – 20w6d, optimal gestation 16 weeks

How to access this service

Hours

Monday to Friday, 9:00am – 5:00pm

Location

Level 4, Rogerson Building, Department of Biochemical Genetics

First trimester screening

Two request forms are required, one for the blood test (the SAMSAS request form) and one for the nuchal translucency ultrasound scan (which does not need to be performed on the same day as the blood test).

Blood Test

  1. Provide the patient with the SAMSAS pre-test information sheet
  2. Use a SAMSAS request form (see below to order SAMSAS request forms)
  3. Complete ALL sections of the form
  4. The test request is First Trimester Screen
  5. Specify the ultrasound practice performing the nuchal translucency scan
  6. Refer patient to the Privacy Disclosure on the SAMSAS request form
  7. If performing blood collection on site, the sample type is 5-10 ml clotted blood sample (serum). Send the blood specimen to SA Pathology.

Ultrasound

  1. Complete an ultrasound request form, specifying “risk of fetal abnormality”; and "Copy to SAMSAS".
  2. The fetus must be 11w0d – 14w0d gestation at time of scan.
  3. Refer patient to book a Nuchal Translucency scan with the radiology clinic.

The ultrasound clinics routinely forward their reports to SAMSAS. Once received, staff will combine the scan results with the serum biochemistry. You will receive a single report giving the aneuploidy risks calculated for the pregnancy.

View the First Trimester Screening NT Provider Progress Report 14 .

Second trimester screening

A single SAMSAS request form for the blood test is required.

Blood Test

  1. Provide the patient with the SAMSAS pre-test information sheet
  2. Use a SAMSAS request form (click link below to order SAMSAS request forms)
  3. Complete ALL sections of the form
  4. The test request is Second Trimester Screen
  5. Refer patient to the Privacy Disclosure on the SAMSAS request form
  6. If performing blood collection on site the sample type is 5-10 ml clotted blood sample (serum). Send the blood specimen to SA Pathology.

Completing the request form

For the best screening, careful documentation of the following factors is critical:

  • Maternal weight: increased weight causes haemo-dilution, and it is greatly preferred that the patient be weighed, rather than weight estimated.
  • Accurate gestational age: since biochemistry values are normalised for the given gestation, ultrasound data, if it exists, is preferred to clinical LMP.
  • Maternal age: is included as a factor in the risk calculation algorithm.
  • Age of egg donor: in IVF pregnancies, it is the age of the egg donor, mother or otherwise, that counts.
  • Ethnicity: biochemical results can change based on different ethnicities.
  • Pregnancy complications: factors such as smoking or insulin dependent diabetes are linked to different levels of serum analytes. For example, if a patient is a smoker, the PAPP-A will be lower. Since low PAPP-A is a marker for T21, if we are unaware that the patient is a smoker we could issue an incorrect higher risk.

Completing all the sections on the request form assists us in accurate calculation of risks and helps avoid unnecessary anxiety and/or invasive testing for the patient.

Reports

Important Note: please contact SAMSAS on 08 8161 7285 immediately if any risk calculation data should be different from that shown on the report.

Increased risk test results

The increased risk cut-off is 1 in 250. Any risk above this value is deemed increased risk (e.g. 1 in 200). Any risk below 1:250 is deemed not at increased risk (e.g. 1 in 1000). The risk is calculated for the date of blood collection.

Increased risk information sheets are provided with all increased risk reports issued by SAMSAS, and should assist the practitioner in communication with the affected family and with, if required, acquisition of diagnostic information.

Since this is a screening test and not diagnostic, some of the “Increased Risk” reports will be false positives, so that on subsequent diagnostic testing, a fetus may be found to have normal chromosomes. We calculate that only about one in 10 increased risk results will be confirmed on diagnostic confirmation at low probability levels like 1:200 or 1:250; however at higher probability levels especially over 1:50, the chance of abnormal chromosomes is much higher.

Low PAPP-A

Low PAPP-A in the absence of chromosomal abnormalities is the most common marker associated with adverse pregnancy outcomes. PAPP-A levels ≤0.37 MoM are below the 5th centile. See below for further information.

Turn-around time

Once we have all the information we need, we can issue a report for first trimester screening within 1-2 business days and second trimester screening within 2-3 business days.

The most common cause of delay is awaiting gestational age, IVF information, or an NT scan report. Carefully filling out all sections of the request form initially assists in preventing delays.

Screen results are forwarded automatically to the requesting doctor. If you have not received a report in a timely manner, please call SAMSAS on 08 8161 7285.

Electronic reporting is available, please contact SAMSAS if required.

Costs

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

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.

Frequently asked questions

What is a suboptimal risk report?

If SAMSAS has not been provided with an NT measurement from a scan report, or if the scan has not been performed within the required gestational ages, a suboptimal report will be issued. This report consists of a risk assessment calculated on biochemistry alone. An amended risk assessment will be issued upon the receipt of an NT measurement from the ultrasound provider.

Why is risk for NTDs not reported in first trimester?

The analyte AFP that is used for NTD is not discriminatory in the first trimester. It only becomes a useful marker at >14 weeks gestation.

Why do we just get a risk for T21 and T18 if you screen for other pathologies?

Trisomy 21 (Down syndrome) and T18 (Edwards syndrome) are the most common aneuploidies in pregnancy. Some aneuploidies share the same analyte pattern as T18, but are much rarer. For example, the incidence for T18 is 1 in 10,000 live births, whereas for T13 it’s 1 in 20,000 live births. As T18 is the most likely diagnosis, we only report for this, but a high risk for T18 may lead to diagnosis of other aneuploidies.

We may also detect an abnormal analyte pattern in conjunction with a low risk for aneuploidy. This will be commented on in the individual report.

What if the scan and the blood are performed at different gestational ages?

When the blood and scan are done on different days, the gestational age when the blood was collected is used in the risk generation assessment.

In line with RANZCOG guidelines and international best practice, SAMSAS uses the CRL measurement to date the pregnancy. SAMSAS uses a population specific equation for establishing estimated gestational age for a given CRL.

The patient has attended too late for screening, what can I offer them?

If the patient is >20 weeks 6 days, then a detailed ultrasound examination of the foetus is recommended as an alternative screening strategy.

The blood has been tested by another laboratory. Can SAMSAS use this to calculate a risk?

No. Median values for our population have been established on our own instrument and they are not transferable to values from another instrument from another laboratory.

Can you do a risk if there is a twin demise?

Where one fetus of a twin pregnancy has demised, biochemistry will remain biased by markers from the demised twin for up to 4 – 6 weeks. Since the date of demise of the twin is usually unknown, SAMSAS will calculate a risk based on NT and maternal age alone, in line with the ISUOG guidelines.

What are MoMs?

Because the levels of the biochemistry analytes change with gestational age (days) during the pregnancy, it would be difficult and confusing to report with reference ranges. To overcome this, the median value of an analyte is calculated for each gestational day of a pregnancy and a patient’s biochemistry values are divided by these medians to generate MoM values – “multiples of the median”. Therefore a MoM of 1 means the patient result is exactly on the median. A MoM of 0.5 means the patient result is half the median. A MoM of 2 means the patient result is double the median.

For more information see: Prenatal screening and diagnostic testing for fetal chromosomal and genetic conditions.

Can SAMSAS call the patient for information, or inform them of a result?

SAMSAS supports the practitioner-patient relationship, and believes that patient trust in this relationship is best upheld by communication remaining directly between practitioner and patient.

Additionally, laboratory staff are not clinically trained and do not have access to all the clinical information. Therefore, it is laboratory policy not to contact the patient.

Ordering SAMSAS request forms

Specific request forms are necessary for this type of service, as they name the information required. This distinguishes aneuploidy screening from serology and other tests performed routinely during pregnancy. Our specific request forms have tick-boxes or spaces for the information required and are recommended to be used in conjunction with pre-test information for parents: “Screening for neural tube defects, Down syndrome and Trisomy 18”.

Access request form.

Please call SAMSAS on 08 8161 7285 or email samsas.program@sa.gov.au for new request form pads. Please provide us with the doctor’s details (provider number, name, and address). We can also send pads of the pre-test information sheets for patients. This sheet is provided to facilitate pre-test counselling about screening.

Resources

Newsletters

Earlier updates and reports are available upon request. Please contact us if you require copies of reports not available here.

  • 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

Nuchal translucency progress reports

Birth defects register reports

Publications
  • ADAM12 A promising new maternal serum marker in screening for Down syndrome in both first and second trimesters of pregnancy. View here.
    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. View here.
    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. View editorial and 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. View here.
  • 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

Contact

Phone

(08) 8161 7285 (laboratory staff)

Email

samsas.program@health.sa.gov.au

Fax

(08) 8161 8085

Mailing address

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

Staff

Department Head, Screening Program

Enzo Ranieri

Telephone

(08) 8161 6739

Email

enzo.ranieri@sa.gov.au

Facsimile

(08) 8161 8085