Maternal Serum Screening

Genzyme Genetics Maternal Serum Screening Program offers the following options for screening for Down syndrome, trisomy 18 and open neural tube defects:

• FirstScreen^® combines maternal serum with a nuchal translucency (NT) ultrasound measurement More >
• SequentialScreen^SM combines the results of two blood tests performed in the first and the second trimester with a Nuchal Translucency (NT) measurement and provides early information for patients at highest risk More >
• IntegratedScreen^SM combines two blood samples taken in the first and the second trimester with an NT measurement More >
• SerumIntegratedScreen^SM uses the same biochemical markers as IntegratedScreen, but does not use the NT ultrasound measurement More >
• Afp4^® maternal serum quadruple marker screening More >
• AFP3^® maternal serum triple marker screening More >
• MSAFP maternal serum alphafetoprotein screening for open neural tube defects following CVS or first trimester screening

FirstScreen^®

FirstScreen is performed between the 10th and the 13th week of gestation. Measurements of the maternal serum markers pregnancy associated plasma protein (PAPP-A) and human chorionic gonadotropin (hCG) are combined with an NT ultrasound measurement to estimate the fetal risk for Down syndrome or trisomy 18. FirstScreen detects approximately 83% of Down syndrome pregnancies and 80% of trisomy 18 pregnancies. (Detection rates are based on statistical results of large multicenter prospective studies. See, e.g., SURUSS J Med Screen 2003 10:56-104).

SequentialScreen^SM

SequentialScreen is a two-part screening test that combines the results of screening performed in the first and second trimesters (including an NT measurement) into one risk assessment. SequentialScreen provides early answers for those patients at highest risk for Down syndrome and trisomy 18 through a “screen positive” result issued after first trimester testing. Those who are not identified as at increased risk will return for the second part of screening.

In the first trimester, between the 10th and the 13th week of gestation, PAPP-A and hCG are measured in a maternal blood sample and an NT ultrasound measurement is obtained. In the second trimester, a maternal blood sample taken between the 15th and the 21st week of gestation is analyzed for alphafetoprotein (AFP), unconjugated estriol (uE3), hCG, and dimeric Inhibin-A. For those patients who are not “screen positive” after Part I, all the first and second trimester data are combined to provide a single estimate of risk.

SequentialScreen leads to the detection of approximately 90.4% of Down syndrome pregnancies (with an overall False Positive Rate (FPR) of 3.7%), 90% of trisomy 18 pregnancies, and 80% of open neural tube defect pregnancies. For those patients who complete Part I only, SequentialScreen leads to the detection of about 70% of Down syndrome pregnancies (with a FPR of 1.2%), and 80% of trisomy 18 pregnancies. (Detection rates are based on statistical results of large multi-center prospective studies. See, e.g., SURUSS J Med Screen 2003 10:56-104).

IntegratedScreen^SM

IntegratedScreen combines the results of screening performed in the first and second trimesters with an NT ultrasound measurement into one risk assessment. In the first trimester, between the 10th and the 13th week of gestation, PAPP-A is measured in a maternal blood sample and an NT ultrasound measurement is obtained. In the second trimester, a maternal blood sample taken between the 15th and the 21st week of gestation is analyzed for alphafetoprotein (AFP), unconjugated estriol (uE3), hCG and dimeric Inhibin-A. All the first and second trimester data are combined to provide a single estimate of risk. IntegratedScreen detects approximately 92% of Down syndrome pregnancies, 90% of trisomy 18 pregnancies and 80% of open neural tube defect pregnancies. (Detection rates are based on statistical results of large multi-center prospective studies. See, e.g., SURUSS J Med Screen 2003 10:56-104).

SerumIntegratedScreen^SM

SerumIntegratedScreen combines results of screenings performed in the first and second trimester into one risk assessment, but does not use an NT ultrasound measurement. In the first trimester, between the 10^th and the 13th week of gestation, PAPP-A is measured in a maternal blood sample. In the second trimester, a maternal blood sample is taken between the 15th and the 21st week of gestation. The maternal serum markers AFP, hCG, uE3 and dimeric Inhibin-A are measured. SerumIntegratedScreen combines the first and second trimester measurements to provide a single estimate of risk.

SerumIntegratedScreen detects approximately 87% of Down syndrome pregnancies, 90% of trisomy 18 pregnancies and 80% of open neural tube defect pregnancies. (Detection rates are based on statistical results of large multi-center prospective studies. See, e.g., SURUSS J Med Screen 2003 10:56-104).

Afp4^®

The introduction of dimeric Inhibin-A as a 4th marker (along with AFP, hCG and uE3) to the triple marker screening protocol makes this screening tool the most sensitive available for the detection of Down syndrome that includes only second trimester biomarkers. Afp4 has fewer false-positive results than AFP3, thereby reducing the number of women referred unnecessarily for amniocentesis.

The results, together with patient age, weight, ethnic background, diabetic status, family history and gestational age, are combined into an algorithm to generate patient-specific risks.

Afp4 screening leads to detection of approximately:

• 81% of Down syndrome pregnancies
• 80% of trisomy 18 pregnancies
• 80% of open neural tube defects

AFP3^®

Three biochemical markers, AFP, hCG and uE3, are analyzed in maternal serum.

The results, together with patient age, weight, ethnic background, diabetic status, family history and gestational age, are combined into an algorithm to generate patient-specific risks.

AFP3 screening leads to detection of approximately:

• 74% of Down syndrome pregnancies
• 80% of trisomy 18 pregnancies
• 80% of open neural tube defects

Maternal Serum Screening Education Materials

Carrier Screening and Diagnostic Testing for Ashkenazi Jewish Population (PDF)

CFplus^TM - Cystic Fibrosis Mutation Analysis (PDF)

Fragile X Testing (PDF)

Prenatal Diagnosis of Chromosome Abnormalities (PDF)

Maternal Serum Screening (PDF)

Preimplantation Genetic Diagnosis (PGD) (PDF)

Maternal Serum Screening Reporting

• All patient-specific information is confirmed before an abnormal report is issued. If errors in patient-specific information are identified, such as over- or under-estimation of gestational age, patient weight, etc., a recalculation is performed immediately and a revised report is issued at no additional cost.
• Patient-specific risks for Down syndrome and open neural tube defects are graphically represented for individual patients in each report.
• Our programs are directed by a board certified clinical chemist.
• All maternal serum screening results are reported by telephone or fax as soon as they become available. Test results are also available online for registered users at www.genzymegold.com.
• Please note: Biparietal diameter (BPD) ultrasound examination increases screening accuracy and efficiency, and is therefore the recommended protocol for gestational age dating.
• If you practice in California and would like information regarding that state’s screening program, please call Client Services at (800) 745-4363.

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		Select a test .... Acetylcholinesterase (AChE) Testing AFP3® - Triple Marker Test AFP4® - Quadruple Marker Test Amniotic Fluid Alphafetoprotein (AFAFP) Testing Angelman Syndrome Protocol Angiotensin Converting Enzyme (ACE) Analysis Ashkenazi Jewish Carrier Testing Bloom Syndrome Mutation Analysis Canavan Disease Mutation Analysis CFTR Intron 8 Poly (T) Analysis Chitotriosidase Assay Cri-Du-Chat Microdeletion Analysis Cystic Fibrosis Expanded Mutation Analysis - CFplus™ Cystic Fibrosis Gene Sequencing Cytogenetics – Amniotic Fluid Chormosome Analysis Cytogenetics – Blood Chromosome Analysis Cytogenetics – Chorionic Villi Sampling Chromosome Analysis Cytogenetics – Chromosome Breakage Analysis (Blood) Cytogenetics – Products of Conception (POC) Chromosome Analysis DiGeorge/Velocardiofacial (22q11) Syndrome Microdeletion Analysis Fabry Disease Enzyme Analysis Fabry Disease Mutation Analysis by Sequencing Factor II (Prothrombin) G20210A Mutation Analysis Factor V Leiden Mutation Analysis Familial Dysautonomia Mutation Analysis Fanconi Anemia Group C Mutation Analysis FirstScreen™ - First Trimester Screening Fragile X Syndrome Mutation Analysis Gaucher Disease Enzyme Analysis Gaucher Disease Mutation Analysis Glycogen Storage Disease Type 1a Mutation Analysis InSight (Interphase FISH for Rapid Detection of X, Y, 13, 18, 21) IntegratedScreen™ - Integrated Screening Kallmann Syndrome Microdeletion Analysis Maple Syrup Urine Disease (MSUD) Mutation Analysis Maternal Cell Contamination Analysis Maternal Serum Alphafetoprotein (MSAFP) Screening Microdeletion Analyses Miller-Dieker Syndrome Microdeletion Analysis MTHFR (C677T) Mutation Analysis Mucolipidosis Type IV Mutation Analysis Niemann-Pick Disease Type A Mutation Analysis Pompe Disease Test Pompe Disease Mutation Analysis (GAA) by Sequencing Prader-Willi Protocol Preimplantation Genetic Diagnosis (PGD) - Aneuploidy Preimplantation Genetic Diagnosis (PGD) - Translocations Rh c/E Mutation Analysis Rh D Mutation Analysis SequentialScreen™ SerumIntegratedScreen™ - Integrated Screening Sickle Cell Anemia Mutation Analysis Smith-Magenis Syndrome Microdeletion Analysis Spinal Muscular Atrophy (SMA) Steroid Sulfatase Deficiency (X-linked Ichthyosis) Subtelomere Analysis Tay-Sachs Disease Mutation Analysis Tay-Sachs Enzyme Analysis (Hexosaminidase A) TRAP (Tartrate Resistant Acid Phosphatase) Williams Syndrome Microdeletion Analysis Wolf-Hirschhorn Syndrome Microdeletion Analysis Y Chromosome Microdeletion Analysis Zygosity Testing