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Non-Invasive Prenatal Testing:
Cell Free Fetal DNA
The cell free fetal DNA (cffDNA) screening test is a non-invasive prenatal test.
It will determine with a high degree of accuracy whether your baby may
have a genetic chromosome disorder such as Down's Syndrome,
Trisomy 13, or Trisomy 18.
When can the test be done?
It may be done during pregnancy as early as the tenth week after the first day of your last menstrual period, but is generally offered at 12 week's gestation for optimal results.
How does the test work?
Small amounts of fetal derived DNA fragments normally enter the mother’s bloodstream. These small fragments can be measured by a simple blood test that poses no harm to you or your baby.
The DNA is then analyzed. An abnormal chromosome pattern may be detected.
What types of chromosome abnormalities may be identified?
This test will screen for such abnormalities as Trisomy 21 (Down’s Syndrome), Trisomy 13, and Trisomy 18.
In addition, abnormal sex chromosome conditions such as Turner’s Syndrome and Klinefelter Syndrome may also be detected.
Are there limitations to the test?
As with any screening test, a false positive (the test is abnormal in the absence of an abnormality) or a false negative (the test is normal and a chromosome abnormality does exist) may occur in rare cases. To minimize false positive or false negative results, the cell free DNA test is recommended for certain high risk categories of patients, such as age 35 years or older, or a personal or family history of prior genetic disease pregnancy.
In addition, not all birth defects, genetic disorders, or health related illnesses are detected by either the cffDNA test or the BUN test.
If my test is abnormal, what happens next?
If you have an abnormal test result, you will be referred to a maternal-fetal medicine specialist. Additional testing may be offered at that time.
Can the test tell me the sex of my unborn baby?
Yes. As part of the test’s results, the baby’s sex will be identified.
When you are given your test results, you are given the option not to know the baby’s sex until after delivery, if you so desire.
Do I have to do the cell free fetal DNA test?
The cell free DNA test is an optimal non invasive screening test for those with a personal or family history of a genetic abnormality, or those who are 35 years or older. It is an alternative non-invasive prenatal test option to the BUN (Blood, Ultrasound, Nuchal Translucency) test. For those patients that are under 35 years of age, or have no personal or family history of genetic disease, the optimal screening test remains the BUN test.
Counseling is provided before the cffDNA test or any other non-invasive prenatal screening test such as the BUN test is performed. This allows you an opportunity to discuss your personal situation with one of our providers.
After counseling and risk factor assessment, you are given the option to do either the cffDNA test or the BUN test. You may also decline doing any non invasive prenatal testing. The final decision is up to you.
Will my health insurance cover the cffDNA screening test?
The cffDNA prenatal screening test is one option for non-invasive prenatal screening.
Currently, many health plans only cover the cffDNA prenatal screening test for women at increased risk for aneuploidy. These include women 35 years of age or older, fetuses with ultrasonographic findings that indicate an increased risk of aneuploidy, a history of a previous child affected with an aneuploidy, or a parent carrying a chromosome abnormality associated with an increased risk of trisomy 13 or trisomy 21.
It is recommended that patients who are in a low risk category for aneuploidy abnormalities be screened by the alternative non-invasive test known as the BUN test.
What if I have further questions?
Please feel free to discuss any of your concerns with one of our obstetric providers. We are more than happy to answer all your questions regarding non-invasive prenatal screening options.