- No FAQs found
- ATM Sequencing and Deletion/Duplication
- ABL Kinase Domain Mutation in CML, Cell-based
- ABO Group and Rh Type
- Acid-Fast Bacillus (AFB) Identification, Sequencing and Stain, Paraffin Block
- ADAMTS13 Activity with Reflex to ADAMTS13 Inhibitor
- Alcohol Metabolites, Quantitative, Urine
- Alpha-Globin Common Mutation Analysis
- Alpha-Globin Gene Deletion or Duplication
- Alpha-Globin Gene Sequencing
- Anti-PF4 and Serotonin Release Assay (SRA) for Diagnosing Heparin-induced Thrombocytopenia/Thrombosis (HIT/HITT)
- Antiphospholipid Antibodies
- APC Sequencing and Deletion/Duplication
- ASCVD Risk Panel with Score
- Autoimmune Epilepsy Evaluation
- Autoimmune Diseases, Tests for
- BAP1 Sequencing and Deletion/Duplication
- BLM Sequencing and Deletion/Duplication
- Bordetella pertussis toxin (PT) antibody
- B-cell and T-cell Clonality Assays by PCR
- B-Type Natriuretic Peptide (BNP)
- BCR-ABL1 Gene Rearrangement, Quantitative PCR
- Beta-Globin Complete
- Biotin: Interference with Laboratory Assays
- BRCA Ashkenazi Jewish Screen
- BRCA Ashkenazi Jewish Screen with Reflex to BRCA Panel (BRCA1, BRCA2)
- BRCA Panel (BRCA1, BRCA2)
- BRCA Panel Plus
- BRCA1 and BRCA2 Deletion/Duplication
- BRCAvantage®, Rearrangements
- BRCAvantage™, Single Site
- CDH1 Sequencing and Deletion/Duplication
- CDKN2A Sequencing and Deletion/Duplication
- CHEK2 Sequencing and Deletion/Duplication
- Clostridium difficile Diagnostic Testing
- C1 Inhibitor, Protein and Functional Tests
- Calreticulin (CALR) Mutation Analysis
- Carbapenem Resistant Enterobacteriaceae Culture Screen
- Cardio IQ Lipoprotein Fractionation, Ion Mobility
- CardioIQ® Insulin Resistance Panel with Score
- CDH1 Sequencing and Deletion/Duplication
- Cervical Cancer, TERC, FISH
- CFvantage® Cystic Fibrosis Expanded Screen
- Chlamydia trachomatis/Neisseria gonorrhoeae RNA, TMA
- Chromogranin A Testing
- Chromosomal Microarray, POC, ClariSure®, Oligo-SNP
- Chromosomal Microarray, Postnatal, ClariSure® Oligo-SNP
- Chromosomal Microarray, Prenatal, ClariSure® Oligo-SNP
- Chromosome Analysis and AFP with Reflex to AChE, Fetal Hgb, Amniotic Fluid
- Chromosome Analysis, Amniotic Fluid
- Chromosome Analysis, Blood
- Chromosome Analysis, Blood with Reflex to Postnatal, ClariSure® Oligo-SNP Array
- Chromosome Analysis, Chorionic Villus Sample
- Chromosome Analysis, High Resolution
- Chromosome Analysis, High Resolution with Reflex to Postnatal, ClariSure® Oligo-SNP Array
- Chromosome Analysis, Mosaicism
- Chromosome Analysis, Neonatal Blood
- Chromosome Analysis, Sister Chromatid Exchange
- Chromosome Analysis, Tissue
- Chromosome DEB Assay for Fanconi anemia
- Chronic Lymphocytic Leukemia (CLL) - Diagnostic and Prognostic Testing
- Comprehensive Hereditary Cancer Panel
- Culture, Fungus
- Culture, Urine, Routine
- Cystic Fibrosis Screen
- Cytomegalovirus (CMV) and Epstein Barr Virus (EBV) PCR
- Cytomegalovirus (CMV) IgG avidity
- D-Dimer, Quantitative
- Dementia, Secondary Causes
- Dengue Virus Testing
- Diagnosis of Intestinal Parasites
- Donor Testing
- Drug Monitoring, Antidepressants, With Confirmation, Urine and Serum
- Drug Testing, General Toxicology (Blood, Urine, or Serum)
- Drug Toxicology Alcohol Metabolite, with Confirmation, Oral Fluid
- Drug Toxicology Monitoring, Oral Fluid Testing
- FH Gene Sequencing and Deletion/Duplication
- FLCN Sequencing and Deletion/Duplication
- FLT3 Mutation Analysis
- Factor V (Leiden) Mutation Analysis
- Factor VIII Activity, Clotting
- Familial Hypercholesterolemia (FH) Panel
- Familial Hypercholesterolemia (FH) Single Site
- Familial Mediterranean Fever Mutation Analysis
- First Trimester Screen, hCG
- First Trimester Screen, Hyperglycosylated hCG (h-hCG)
- FISH, Angelman
- FISH, MET Amplification
- FISH, Myeloma, 17p-, rea 14q32 with Reflexes
- FISH, Prader-Willi
- FISH, Prenatal Screen
- Follicular Lymphoma, EZH2 Mutation, COBAS
- HOXB13 Sequencing and Deletion/Duplication
- Helicobacter pylori (H pylori) Antibody Discontinuation
- Heparin, Anti-Xa
- Hepatitis B Surface Antibody, Quantitative
- Hepatitis B Surface Antigen, Quantitative, Monitoring
- Hepatitis C Antibody with Reflex to HCV RNA, PCR with Reflex to Genotype
- Hepatitis C Viral RNA Genotype 1 NS5A Drug-resistance
- Hepatitis C Viral RNA Genotype 3 NS5A Drug Resistance
- Hepatitis C Viral RNA NS3 Drug Resistance
- Hepatitis C Viral RNA, Genotype, LiPA
- Hepatitis C Virus Antibody and RNA Testing
- Hereditary Breast Cancer Panel
- Hereditary Cancer Single Site(s)
- Hereditary Colorectal Cancer Panel
- Hereditary Endocrine Cancer Panel
- Hereditary Hemochromatosis DNA Mutation Analysis
- Herpes Simplex Virus (HSV) Type-Specific IgG Antibodies
- Herpes Simplex Virus Type 2 (HSV-2) IgG Inhibition, ELISA
- HIV Pre-exposure Prophylaxis (PrEP) Testing
- HIV-1 Coreceptor Tropism, Proviral DNA
- HIV-1 Coreceptor Tropism, Ultradeep Sequencing
- HIV-1 Integrase Genotype
- HIV-1 Resistance, Proviral DNA (RTI, PI, Integrase Inhibitors)
- HIV-1/2 Antigen and Antibodies, Fourth Generation, with Reflexes
- HPV mRNA E6/E7
- Infliximab and Adalimumab Drug and Anti-drug Antibody Testing
- Influenza A and B Antigen, Immunoassay
- Influenza Type A and B Antibodies
- Insulin, Intact, LC/MS/MS
- Integrated Screen, Part 1
- Integrated Screen, Part 2
- Intrinsic Factor Blocking Antibody
- Isocitrate Dehydrogenase 1 and 2 (IDH1/IDH2) Mutation Analysis (IDH1 and IDH2 Mutation)
- LDL Cholesterol Calculations
- LeukoVantage® Myeloid Neoplasm Mutation Panels
- Li-Fraumeni Syndrome, TP53 Sequencing and Deletion/Duplication
- Lupus Anticoagulant (LA) Evaluation with Reflex
- Lyme Disease Testing
- Lynch Syndrome Panel
- Lynch Syndrome, MLH1 Sequencing and Deletion/Duplication
- Lynch syndrome, MSH2 Sequencing and Deletion/Duplication (Including EPCAM)
- Lynch Syndrome, MSH6 Sequencing and Deletion/Duplication
- Lynch Syndrome, PMS2 Sequencing and Deletion/Duplication
- MEN1 Sequencing and Deletion/Duplication
- MUTYH Sequencing and Deletion/Duplication
- Maternal Serum AFP
- Melanoma, BRAF V600E and V600K Mutation Analysis, THxID®
- Metanephrines, Fractionated, Free, LC/MS/MS, Plasma
- Methylenetetrahydrofolate Reductase (MTHFR), DNA Analysis
- Microalbumin (Urinary Albumin Excretion)
- Myeloproliferative Neoplasm Diagnosis: Molecular Evaluation
- NF1 Sequencing and Deletion/Duplication
- NAFLD Fibrosis Score
- Nevoid Basal Cell Carcinoma (NBCCS) (Gorlin) Syndrome Panel (PTCH1, SUFU)
- No FAQs found
- PALB2 Sequencing and Deletion/Duplication
- PTEN Sequencing and Deletion/Duplication
- Pain Management and CYP2D6/CYP2C19
- Pain Management Antipsychotics, With Confirmation, Serum and Urine
- Pain Management, Naltrexone, Quantitative, Urine
- Partial Thromboplastin Time, Activated (aPTT)
- Penta Screen
- Pharmacogenomics Panel
- PIK3CA Mutation Analysis
- Platelet Antibody Screen (Indirect)
- PNH with FLAER (High Sensitivity)
- Porphyria Testing
- Prothrombin Time with INR
- PTH, Intact and Calcium
- SMARCA4 Sequencing and Deletion/Duplication
- STK11 Sequencing and Deletion/Duplication
- Streptococcus pneumoniae (Pneumococcal) Antibody Tests
- Saccharomyces cerevisiae Antibodies (ASCA) (IgG, IgA)
- SARS-CoV-2 Antibody Testing
- Sequential Integrated Screen, Part 1
- Sequential Integrated Screen, Part 2
- Serum Integrated Screen, Part 1
- Serum Integrated Screen, Part 2
- Serum Pregnancy Tests
- Sickle Cell Screen
- Stepwise, Part 1
- Stepwise, Part 2
- SureSwab® Trichomonas vaginalis RNA, Qualitative TMA
- TP53 Sequencing and Deletion/Duplication
- T4, Free
- Tamoxifen and Metabolites, LC-MS/MS
- Testosterone Testing
- Total Testosterone, LC/MS/MS
- Triple Screen
- Tuberous Sclerosis Complex Panel (TSC1, TSC2)
- No FAQs found
- VHL Sequencing and Deletion/Duplication
- Varicella Zoster Virus Antibody (IgG)
- Vitamin D Testing
- von Willebrand Comprehensive Panel
- No FAQs found
- No FAQs found
First Trimester Screen, hCGTest code(s) 16145, 16968 (NY)
This is an outdated version of this FAQ. It was effective 04/20/2012 to 04/23/2013.
The current version is available here.
Question 1. My patient had a negative First Trimester Screen, hCG test. What should I do next?
A negative screen means it is unlikely the fetus has either Down syndrome or trisomy 18. But a negative screen does not guarantee the birth of a healthy baby. The demographic information provided at the time of testing is used in calculating the patient’s Down syndrome and trisomy 18 risk. Please check the demographic information to ensure accuracy of calculated results.
The first trimester screening test screens only for Down syndrome and trisomy 18. Guidelines recommend neural tube defect screening be performed in the second trimester.1 The Maternal Serum AFP test is available for this purpose.
Most patients with negative screening tests choose not to proceed with a diagnostic test.
Question 2. My patient’s result was “screen positive” for Down syndrome. What should I do next?
A positive Down syndrome screen result means there is an increased risk for the fetus to be affected with Down syndrome or other chromosome abnormalities. The demographic information provided at the time of testing is used in calculating the patient’s Down syndrome and trisomy 18 risk. Please check the demographic information to ensure accuracy of calculated results.
Guidelines recommend counseling women with a positive screening test. Such counseling may include a discussion of the significance of the screening results and diagnostic testing options (eg, careful ultrasound examination of the fetus, chorionic villus or amniocentesis testing). Guidelines do not recommend repeating Down syndrome positive screening tests.
Question 3. My patient result was screen positive for trisomy 18. What should I do next?
A positive trisomy 18 result means there is an increased risk for the fetus to be affected with trisomy 18 or other chromosome abnormalities. The demographic information provided at the time of testing is used in calculating the patients Down syndrome and trisomy 18 risk. Please check the demographic information to ensure accuracy of calculated results.
Guidelines recommend counseling women with a positive screening test. Such counseling may include a discussion of the significance of the screening results and diagnostic testing options (eg, careful ultrasound examination of the fetus, chorionic villus or amniocentesis testing). Guidelines do not recommend recalculating or repeating trisomy 18 positive screening tests.
Question 4. The report indicates a different gestational age than what I determined. How is the gestational age calculated?
We report the gestational age, based on the crown-rump length (CRL), in decimal weeks; for example, 11 weeks 4 days is reported as 11.6 weeks. If the CRL is not provided, we derive the gestational age from the expected date of delivery (EDD) and the sample collection date provided; we use an exact calculation of calendar days. Gestational wheels may be inaccurate by several days or more.
Question 5. When is it appropriate to change the gestational age or estimated date of delivery (EDD) on a maternal serum screen result report?
The criteria for changing the EDD of a pregnancy consists of multiple factors including the average ultrasound age (AUA). The earliest ultrasound at which the AUA was calculated should be used for dating purposes. It is generally accepted that the accuracy of AUA is +/- 7 days in the first trimester and +/- 10 days in the second trimester. If the estimated gestational age indicated on a maternal serum screening test report is within the time interval estimated by ultrasound, then the dates should not be changed.
If you want to change the EDD for a patient who had a maternal serum screening test performed, please contact Quest Diagnostics Nichols Institute (phone number on the test report) or call Quest Diagnostics Genetic Testing Center at 1-866 GENE-INFO. If the revised EDD results in an acceptable gestational age for the maternal serum screening test (10 to 13.9 weeks’ gestation for first trimester screening), a revised risk assessment can be calculated using measurements from the original specimen. If the revised gestational age is <10 weeks, a second specimen, collected between 10 and 13.9 weeks’ gestation, should be submitted to obtain an accurate risk assessment. If the revised gestational age exceeds 13.9 weeks, an accurate first trimester risk assessment cannot be provided.
Question 6. My patient has a family history of Down syndrome or trisomy 18. What impact does this have on these results?
Please call 1-866-GENE-INFO to discuss this case with a genetic counselor. Documentation of the abnormality in the family may enable a more specific risk assessment or indicate whether additional studies should be performed.
Question 7. My patient had a normal maternal serum screen, but her risk for Down syndrome was higher than her age-related risk. How do I explain this?
A cutoff of 1 in 270, the risk of a 35-year old, is used to determine if a pregnancy is "screen negative" or "screen positive" for Down syndrome. This cutoff is used regardless of the woman’s age, since it’s the historical cutoff for offering diagnostic testing (amniocentesis).
When counseling a pregnant woman, it may be helpful to compare her age-related risk (ie, pre-test risk) with her screen-derived risk (post-test risk) and the general population risk (1 in 600 live births). This allows the woman and her partner to better understand her risk of carrying a Down-syndrome affected fetus and to weigh it against the risks and consequences of amniocentesis.
Question 8. What does a low PAPP-A result mean and is there a follow-up test?
There is no consensus as to exactly what constitutes a low PAPP-A value in first trimester screening. However, low PAPP-A levels have been associated with low birth weight, reduced fetal growth, hypertension, pre-eclampsia, pre-term labor, and fetal demise. When a physician considers a woman’s PAPP-A to be low, he/she usually treats her as if she has a high risk pregnancy and follows her more closely as the pregnancy progresses.
Question 9. What is a Down syndrome pseudo-risk in a twin gestation? Why don't we give twin-specific risks?
Prenatal screening in twin pregnancies is complex. The serum markers can be measured in a woman with a twin gestation and then divided by corresponding medians for unaffected twins in order to provide a “pseudo-risk” for Down syndrome. This calculation accounts for the presence of two fetuses, but does not take into account the chorionicity of the pregnancy or the nuchal translucency measurement of each specific fetus. The result is a pregnancy-specific pseudo-risk, rather than a fetus-specific risk.
Question 10. In a twin gestation, why is there no risk assessment reported for trisomy 18?
Prenatal screening in twin pregnancies is complex. A trisomy 18 risk assessment is not calculated for twin gestations due to insufficient screening marker data from affected twin pregnancies.
- ACOG Committee on Practice Bulletins. ACOG Practice Bulletin No. 77: screening for fetal chromosomal abnormalities. Obstet Gynecol. 2001;109:217-222.
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