Patient FAQs
Why should Ultra-Screen be offered to all pregnant women?
Patients are becoming increasingly sophisticated in their knowledge of risk assessment options, with study after study indicating that the vast majority of patients prefer to know their risk of a fetus with Down syndrome during their first trimester.
With the Ultra-Screen® protocol from NTD, physicians can provide patients with the standard of care in first trimester Down syndrome screening. This simple, non-invasive procedure enables a quick, efficient, reliable assessment of a patient’s risk for Down syndrome more accurately, with detection rates as high as 95% and false positive rates as low as 2% with an optional fetal nasal bone assessment. (References)
What exactly is measured with the Ultra-Screen protocol?
The Ultra-Screen protocol measures biochemical and biophysical markers. The biophysical markers include nuchal translucency (NT) measured during a routine ultrasound examination. An optional fetal nasal bone assessment may be added to the protocol to measure the presence or absence of a fetal nasal bone. The biochemical markers determined from a simple, safe maternal blood specimen tested for free Beta hCG screen and pregnancy associated plasma protein-A (PAPP-A). The protocol combines the data from the blood screen with the information obtained during the NT ultrasound measurement to calculate an initial risk assessment for Down syndrome and trisomy 18/13.
The advantages of the Ultra-Screen protocol include:
- 91% detection rate with 5% false positive rate (in the first trimester) (References)
- Patients shown to be at risk have added time to consider follow-up diagnostic procedures such as CVS or amniocentesis
With the addition of an optional Fetal Nasal Bone Assessment, the detection rate increases to 95% with a 2% false positive rate. Data from 18,000 patients in 12 investigational studies indicates that the nasal bone is absent in approximately 70% of Down syndrome cases and just 1.5% of unaffected cases in the first trimester of pregnancy. (References)
What are the advantages of the Ultra-Screen protocol?
- For those shown to be at low risk, Ultra-Screen® reduces the use of unnecessary diagnostic procedures that increase health risks to patient and fetus
- For those shown to be at high risk, Ultra-Screen® gives the patient and physician more time to consider follow-up diagnostic options such as CVS (chorionic villus sampling) or amniocentesis
- Safe, simple and non-invasive, so patients are more likely to undergo the screening
- Provides separate twin reports
- Provides separate trisomy 18/13 results
Why is the Ultra-Screen protocol more effective?
Free Beta hCG and associated PAPP-A are considered to be effective markers for Down syndrome, detecting approximately 60-65% of Down syndrome cases. With the inclusion of an ultrasound examination for nuchal translucency, the combined protocol offers a 91% detection rate for Down syndrome with a 5% false positive rate. (References)
Why is total hCG not an effective first trimester marker?
Total hCG is not an effective first trimester marker for Down syndrome. To maximize the inherent benefits of first trimester screening, free Beta hCG must be used instead of total Beta hCG. (References)
Laboratories that lack the technology to measure free Beta hCG may attempt to use total Beta hCG during the first trimester. However, Free Beta hCG and total Beta hCG are not the same. Make sure you are receiving the protocol used in the BUN and FASTER studies.
What sort of follow-up testing should I recommend if the results show a high risk?
When Ultra-Screen risk assessments indicate that a patient is at increased risk for Down syndrome or trisomy 18/13, health care professionals often recommend two types of follow-up diagnostic tests to confirm the presence of birth defects or chromosomal abnormalities; Chorionic Villus Sampling (CVS) and amniocentesis. Both CVS and amniocentesis carry a small risk of complications, including miscarriage.
Chorionic Villus Sampling (CVS)
Performed in the first trimester of pregnancy, CVS involves the withdrawal of a small amount of chorionic tissue from the placenta. This tissue is then cultured and a karyotype analysis is performed.
Amniocentesis
Typically performed between 15-20 weeks of pregnancy, amniocentesis involves a small amount of amniotic fluid being withdrawn from the uterus, and a karotype analysis is performed.
Does the Ultra-Screen protocol cover open neural tube defects?
Although the Ultra-Screen protocol represents the best first trimester screening option for Down syndrome and trisomy 18/13, it does not screen for open neural tube defects. Therefore it is highly recommended for patients to undergo AFP screening for open neural tube defects during the second trimester.
What are the advantages of dried blood sampling?
NTD Labs utilizes a patented dried blood sampling technique) that’s simple and safe. Maternal blood specimens are spotted on an absorbent filter medium using a simple finger stick method that can be performed in a physician’s office or in a test lab, or by the patient using a home test kit. No phlebotomist is required. Practices may continue to use venous blood if they prefer, however some of the logistical issues may be lost such as:
- Simple, safe collection and transport
- Reduced biohazard risk
- Patient convenience, no extra trip to the blood drawing station required
NTD’s dried blood sampling also enhances the reliability of the data and reduces the risk of case file errors since patient demographics; ultrasound information and blood collection are all entered onto a single form.
How much scientific evidence is there to support the use of the Ultra-Screen protocol for Down syndrome screening?
There is a large body of evidence to support the Ultra-Screen protocol as the standard of care in first trimester Down syndrome screening. The efficacy of NTD’s patented Ultra-Screen protocol for first trimester screening utilizing NT ultrasound measurements and 2 biochemical markers – free Beta and PAPP-A has been proven in 18 clinical studies and 2 NIH-sponsored trials involving more than 190,000 patients.