Performed between 10 weeks, 0 days and 13 weeks, 6 days gestation, the test combines ultrasound markers with the analysis of five biological markers to increase the detection rates and assess risk for:
Chromosomal Abnormalities
The chromosome abnormalities screened for in this test including:
- Trisomy 21 (Down syndrome)
- Trisomy 18 (Edwards Syndrome)
- Trisomy 13 (Patau syndrome)
Optional Early Onset Preeclampsia (EOPE)
Early onset preeclampsia is defined as preeclampsia resulting in the delivery of the fetus before 34 weeks’ gestation. It is estimated to occur in approximately 0.5% of all pregnancies. Early onset preeclampsia is less common than the late form of the disorder, but contributes more to the morbidity and mortality of pregnant mothers and babies.
NTD also offers stand -alone preeclampsia screening that does not include a risk assessment for Down syndrome, Trisomy 18 (Edwards Syndrome), or Trisomy 13 (Patau syndrome).
Optional Y Chromosome Assessment
Y chromosome assessment is an option available to patients who are pregnant with singletons that will assess the presence or absence of the Y chromosome. The presence of a Y chromosome is predictive of a male fetus, while the absence of the Y chromosome typically indicates the fetus is female. The result of this added evaluation will further refine the risk analyses for Down syndrome, Trisomy 18, Trisomy 13 and early onset preeclampsia.
Optional Other Obstetric Complications
By analyzing the biochemical markers in patient’s blood, Maternal Fetal ScreenSM | T1 casts a wide net and also offers insight into other maternal and fetal issues, such as aneuploidy, low birth weight, fetal loss, and stillbirth.
*Information provided if second trimester screening is included
How It Works
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Biochemical:
A maternal blood sample is analyzed for five biochemical markers: free Beta hCG, PAPP-A (pregnancy-associated plasma protein-A), AFP (alpha fetoprotein), PIGF (placental growth factor) and dimeric inhibin A (DIA).
Read more about the importance of biochemical markers in prenatal screening.
The Advantages of Free Beta hCG:
NTD Eurofins is the only laboratory that utilizes free beta hCG in their prenatal screening protocol. The use of free beta hCG in screening for Down syndrome and other chromosomal abnormalities has been demonstrated to be more effective than intact or total hCG. Intact/total hCG, while an effective second trimester marker, is far less effective during the first trimester.
The American College of Medical Genetics (ACMG) technical guidelines on prenatal screening state the following:
“Before 11 weeks, free beta hCG is discriminatory but hCG is not. Between 11 and 13 gestational weeks, free beta hCG is univariately a more discriminatory Down syndrome screening marker than hCG.”
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Biophysical:
An ultrasound examination is needed to confirm gestational age, measure the nuchal translucency (NT), and assess the fetal nasal bone.
Research shows that the fetal nasal bone is absent in approximately 70% of all Down syndrome cases. With the Fetal Nasal Bone Assessment option added to the Maternal Fetal Screen | T1SM protocol, physicians can raise the detection rate and lower the false positive rate for Down syndrome.
If early onset preeclampsia screening is ordered, mean arterial pressure (MAP) and evaluation of the uterine artery doppler pulsatility index is recommended to maximize the detection efficiency.
Uterine Artery Doppler Pulsatility Index
Normal First Trimester Uterine Artery Doppler (UtAD)
Abnormal First Trimester Uterine Artery Doppler (UtAD)
Need nuchal translucency or uterine artery doppler pulsatility index certification? We can help.
MAP Protocol
- Make sure the patient is sitting comfortably with her feet on the floor, legs uncrossed, for about 5 minutes.
- Blood pressure (BP) measured in both arms simultaneously.
- Recordings at 1-minute intervals until stable.
- Enter Left Arm and Right arm BP’s on NTD’s Test Requisition
- MAP is calculated by NTD Labs.
Detection Rates
Test Results
Turn around time: Results can be expected 2-5 days from the time the sample is received at the laboratory. Turn around time is 3-6 days when adding additional EOPE and Y Chromosome Assessment test options.
Early Detection, Early Assurance with Instant Risk Assessment from eReports
First Trimester ScreenSM | Fß with Instant Risk Assessment from eReports enables physicians to present a complete risk assessment for Down syndrome and Trisomy 18 (Edwards Syndrome) and Trisomy 13 (Patau syndrome) during a single office visit and ensure same-day results notification for the patient. As early as 10 weeks gestation, a maternal blood sample can be collected and submitted to NTD. The results of the blood screen are maintained and made available to the physician when the patient undergoes her nuchal ultrasound exam between 11 weeks, 1 day and 13 weeks, 6 days of gestation. To save time, NTD provides web-based access to your patient’s biochemistry data through a secure eReports website.
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Specimen Requirements and Shipping Instructions
View the NTD Genetic Testing Sample Collection and Shipping Requirements Sheet.
What it looks for
· Down syndrome
· Trisomy 18 (Edwards Syndrome)
· Trisomy 13 (Patau Syndrome)
· Early Onset Preeclampsia
Learn more about why NTD Eurofins has been the laboratory to trust for over 30 years.
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The detection of Y chromosome assay has been validated for a minimum presence of 4% fetal fraction in the cell free DNA extraction. Therefore failure to detect Y chromosome signal may occur where there is less than 4% fetal fraction. It has been noted that with increased maternal weight, the likelihood of less than 4% fetal fraction increases. For example, at 11-13 weeks gestation over 11% of the mothers that weigh over 240 lbs have fetal fraction <4% (Ashoor G, et al. Fetal fraction in maternal plasma cell-free DNA at 11-13 weeks’ gestation: relation to maternal and fetal characteristics. Ultrasound Obstet Gynecol. 2013 Jan;41(1):26-32. PMID: 23108725).