amniotic Fluid Test (AFT)

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Amniocentesis

Amniocentesis (also referred to as amniotic fluid test or AFT), is a medical procedure used in prenatal diagnosis of chromosomal abnormalities and fetal infections [1], in which a small amount of amniotic fluid, which contains fetal tissues, is extracted from the amnion or amniotic sac surrounding a developing foetus, and the fetal DNA is examined for genetic abnormalities.

Procedure

Before the start of the procedure, a local anesthetic can be given to the mother in order to relieve the pain felt during the insertion of the needle used to withdraw the fluid. After the local is in effect, a needle is usually inserted through the mother's abdominal wall, then through the wall of the uterus, and finally into the amniotic sac. With the aid of ultrasound-guidance, a physician punctures the sac in an area away from the foetus and extracts approximately 20 ml of amniotic fluid. After the amniotic fluid is extracted, the fetal cells are separated from the sample. The cells are grown in a culture medium, then fixed and stained. Under a microscope the chromosomes are examined for abnormalities. The most common abnormalities detected are Down syndrome, Edward syndrome (trisomy 18) and Turner syndrome (monosomy X). In regards to the fetus, the puncture heals and the amniotic sac replenishes the liquid over the next 24–48 hours.

Indications & results

Early in pregnancy, used for diagnosis of chromosomal problems:

  • Anencephaly
  • Down Syndrome (Trisomy 21)
  • Trisomy 13
  • Trisomy 18
  • Rare, inherited metabolic disorders
  • Spina Bifida

Later on, it also can be used to find problems such as:

  • Infection
  • Rh incompatibility

Risks and drawbacks

Amniocentesis is performed between the 16th-20th week of pregnancy; performing this test early can lead to injury to the baby's limbs. Most people do the test during the 18th week of pregnancy.[2] The term "early amniocentesis" is sometimes used to describe use of the process between weeks 11 and 13.[3]. Approximately 6 percent of pregnant women take or consider taking the amniocentesis test.[4]

Although the procedure is routine, and almost 70% of women who undergo the test report little to no discomfort[5], possible complications include infection of the amniotic sac from the needle, and failure of the puncture to heal properly, which can result in leakage or infection. Serious complications can result in miscarriage. Other possible complications include preterm labor and delivery, respiratory distress, postural deformities, fetal trauma and alloimmunisation of the mother (rhesus disease). Studies from the 1970s originally estimated the risk of amniocentesis-related miscarriage at around 1 in 200 (0.5%).[6] A more recent study (2006) has indicated this may actually be much lower, perhaps as low as 1 in 1,600 (0.06%).[6] In contrast, the risk of miscarriage from chorionic villus sampling (CVS) is believed to be approximately 1 in 100, although CVS may be done up to four weeks earlier, and may be preferable if the possibility of genetic defects is thought to be higher [7].

One simple drawback is that administration may be painful.

Amniotic fluid embolism has been described as a possible risk.[8]

Amniocentesis and stem cells

Recent studies have discovered that amniotic fluid can be a rich source of multipotent mesenchymal, hematopoietic, neural, epithelial and endothelial stem cells.[9][10][11]

A potential benefit of using amniotic stem cells over those obtained from embryos is that they side-step ethical concerns among pro-life activists by obtaining pluripotent lines of undifferentiated cells without harm to a fetus or destruction of an embryo.

Artificial heart valves, working tracheas, as well as muscle, fat, bone, heart, neural and liver cells have all been engineered through use of amniotic stem cells.[12] Tissues obtained from amniotic cell lines show promise for patients suffering from congenital diseases/malformations of the heart, liver, lungs, kidneys, and cerebral tissue.[13]

The first amniotic stem cells bank in US is active in Boston, Massachusetts.[14][15][16]

See also

References

  1. ^ "Diagnostic Tests - Amniocentesis". Harvard Medical School. http://www.health.harvard.edu/diagnostic-tests/amniosentesis.htm. Retrieved 2008-07-15. 
  2. ^ See Wiser Pregnancy Amniocentesis Experience data http://pregnancy.wisertogether.com/learn-from-peers.php?id=29
  3. ^ Sundberg K, Bang J, Smidt-Jensen S, et al. (September 1997). "Randomised study of risk of fetal loss related to early amniocentesis versus chorionic villus sampling". Lancet 350 (9079): 697–703. doi:10.1016/S0140-6736(97)02449-5. PMID 9291904. http://linkinghub.elsevier.com/retrieve/pii/S0140-6736(97)02449-5. 
  4. ^ Wiser Pregnancy data - http://pregnancy.wisertogether.com/learn-from-peers.php?id=29
  5. ^ Wiser Pregnancy http://pregnancy.wisertogether.com/learn-from-peers.php?id=29
  6. ^ a b Amniocentesis Risk Overrated?
  7. ^ NEJM - The safety and efficacy of chorionic villus sampling for early prenatal diagnosis of cytogenetic abnormalities
  8. ^ Dodgson J, Martin J, Boswell J, Goodall HB, Smith R (May 1987). "Probable amniotic fluid embolism precipitated by amniocentesis and treated by exchange transfusion". Br Med J (Clin Res Ed) 294 (6583): 1322–3. PMID 3109636. 
  9. ^ "Scientists See Potential In Amniotic Stem Cells". http://www.washingtonpost.com/wp-dyn/content/article/2007/01/07/AR2007010700674.html. 
  10. ^ "Isolation of amniotic stem cell lines with potential for therapy". http://www.nature.com/nbt/journal/v25/n1/abs/nbt1274.html. 
  11. ^ "Stem Cells - BiocellCenter". http://www.biocellcenter.com/en/services_research/stem_cells/. Retrieved 2010-01-11. 
  12. ^ "ITALY - Stem cells from amniotic liquid, new hopes". http://www.stem-cells-news.com/1/2009/05/italy-stem-cells-from-amniotic-liquid-new-hopes/#more-375. 
  13. ^ "Stem cells scientific updates - BiocellCenter". http://www.biocellcenter.com/en/services_research/scientific_updates/. Retrieved 2010-01-11. 
  14. ^ "European Biotech Company Biocell Center Opens First U.S. Facility for Preservation of Amniotic Stem Cells in Medford, Massachusetts | Reuters". http://www.reuters.com/article/pressRelease/idUS166682+22-Oct-2009+PRN20091022. Retrieved 2010-01-11. 
  15. ^ "Europe's Biocell Center opens Medford office - Daily Business Update - The Boston Globe". http://www.boston.com/business/ticker/2009/10/europes_biocell.html. Retrieved 2010-01-11. 
  16. ^ "The Ticker - BostonHerald.com". http://www.bostonherald.com/business/general/view/20091022the_ticker. Retrieved 2010-01-11. 

External links

  • Amniodex is an interactive decision support intervention designed for women faced with the decision of whether to undergo amniocentesis.
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