- Joined
- Feb 20, 2021
They can do the NIPT (dna blood tests) at like 6 weeks now and the newest ones are super accurate. The older generation of blood tests were shitty and gave odds (I.e. you have a 1 in 20 chance on DS) so amnio was the only way to be sure, but these new tests are almost as accurate as amnio.
Amniocentesis also carries a slightly elevated risk of miscarriage, especially when performed before the 15th week of pregnancy. Unfortunately, it's a double edged sword, because the longer the fetus is allowed to grow, the harder it is to obtain a usable sample of amniotic fluid, because as the fetus gets bigger, there's less room to work inside the amniotic sac. For these reasons, amniocentesis is usually only done in cases where there are no better alternatives, including cases where less invasive prenatal testing has indicated the possibility of an issue with the fetus.
These initial screening methods include the anatomical ultrasound; the triple/quad test, which measures hormone levels in maternal blood to screen for neural tube defects and the three most common aneuploidies (Trisomy 13, Trisomy 18, and Trisomy 21/Down syndrome); and NIPT ("non-invasive prenatal testing"), a more sensitive and specific method of testing for a broader range of chromosomal abnormalities via analysis of the tiny fragments of fetal DNA which circulate in maternal blood during pregnancy. This is called cell-free fetal DNA, or cffDNA, and because it actually comes from the baby, NIPT is very good at indicating the presence of the three common aneuploidies, with sensitivity >99%. The "sensitivity" of a test refers to its ability to correctly identify cases of a disease; that is, how often the test is negative in a patient that actually has the condition being tested for. NIPT successfully identifies more than 99 out of 100 cases of Trisomy 13, Trisomy 18, or Trisomy 21. This is pretty good, but NIPT is actually considered a screening rather than a "diagnostic" test. It's still possible that a fetus with a positive NIPT screen will actually be genetically normal. There are lots of reasons why this can happen, and I can sperg about those upon request. Amniocentesis is still the gold standard for fetal diagnostics, and in most cases, an abnormal NIPT screening will be followed up by an amniocentesis or by chorionic villus sampling (CVS), which is basically the same idea, just a different kind of specimen. An advantage of the NIPT assay is that it can also be customized to look for other chromosome abnormalities in individual cases, such as when a woman suffers repeated fetal or infant losses, or when there is concern that a disease "runs in the family".
For both the older tests (the "triple" or "quad" screen) and NIPT, the results are only expressed as odds, as @MirnaMinkoff mentioned above. The difference is that the NIPT is more specific because it is analyzing actual fetal chromosome material, not just maternal hormones which may correlate with fetal abnormalities. However, because the sample is generated from maternal whole blood, there is a possibility of the mother's genetic material contaminating the sample and giving inaccurate results. It is also possible for there to be insufficient fetal genetic material (called the "fetal fraction") in the mother's blood. This usually happens when the test is done too early, usually before the 10th week of pregnancy. Amniocentesis, unlike NIPT, uses genetic material taken directly from fetal cells, so it is much more accurate.
These initial screening methods include the anatomical ultrasound; the triple/quad test, which measures hormone levels in maternal blood to screen for neural tube defects and the three most common aneuploidies (Trisomy 13, Trisomy 18, and Trisomy 21/Down syndrome); and NIPT ("non-invasive prenatal testing"), a more sensitive and specific method of testing for a broader range of chromosomal abnormalities via analysis of the tiny fragments of fetal DNA which circulate in maternal blood during pregnancy. This is called cell-free fetal DNA, or cffDNA, and because it actually comes from the baby, NIPT is very good at indicating the presence of the three common aneuploidies, with sensitivity >99%. The "sensitivity" of a test refers to its ability to correctly identify cases of a disease; that is, how often the test is negative in a patient that actually has the condition being tested for. NIPT successfully identifies more than 99 out of 100 cases of Trisomy 13, Trisomy 18, or Trisomy 21. This is pretty good, but NIPT is actually considered a screening rather than a "diagnostic" test. It's still possible that a fetus with a positive NIPT screen will actually be genetically normal. There are lots of reasons why this can happen, and I can sperg about those upon request. Amniocentesis is still the gold standard for fetal diagnostics, and in most cases, an abnormal NIPT screening will be followed up by an amniocentesis or by chorionic villus sampling (CVS), which is basically the same idea, just a different kind of specimen. An advantage of the NIPT assay is that it can also be customized to look for other chromosome abnormalities in individual cases, such as when a woman suffers repeated fetal or infant losses, or when there is concern that a disease "runs in the family".
For both the older tests (the "triple" or "quad" screen) and NIPT, the results are only expressed as odds, as @MirnaMinkoff mentioned above. The difference is that the NIPT is more specific because it is analyzing actual fetal chromosome material, not just maternal hormones which may correlate with fetal abnormalities. However, because the sample is generated from maternal whole blood, there is a possibility of the mother's genetic material contaminating the sample and giving inaccurate results. It is also possible for there to be insufficient fetal genetic material (called the "fetal fraction") in the mother's blood. This usually happens when the test is done too early, usually before the 10th week of pregnancy. Amniocentesis, unlike NIPT, uses genetic material taken directly from fetal cells, so it is much more accurate.
I'm sure everyone who is reading this knows, but just in case, amniocentesis is a procedure in which an extremely long, thin needle is poked through the mother's abdomen, into the uterus and amniotic sac (where the fetus is growing) and a sample of the fluid inside drawn out. This fluid is then analyzed for various substances, including bacteria; indicators of fetal lung maturity including lecithin, sphingomyelin, and phosphatidylglycerol; and genetic material. It can be invaluable, but it is risky. Also, considering that NIPT is not reliable until at least 10 weeks of gestation and results may take several weeks to become available, depending on the lab capabilities, it's possible that after an amniocentesis can be done confirming a "bad" diagnosis, it's too late for a woman to be able to abort, either because of legal restrictions or because of personal misgivings. In situations where the suspected fetal condition is something other than the big 3 aneuploidies, it can take even longer, because the testing materials need to be customized based on expected mutations.