
[New Latin amniocentēsis : AMNION + Greek kentēsis, act of pricking (from kentein, to prick).]
For more information on amniocentesis, visit Britannica.com.
Removal of fluid from the amniotic cavity. This is accomplished by passing a long, fine needle through the abdominal wall and through the underlying wall of the pregnant uterus, and aspirating a sample into a syringe. The purpose is to obtain stray cells shed from the fetus into the fluid, which can provide evidence of genetic abnormalities, especially Down's syndrome. Because the risk of conceiving such an infant increases with age, amniocentesis is commonly advised at about 16 weeks of pregnancy in any mother over about 35. The procedure is combined with ultrasound scanning, which allows the fetus, the placenta, and the needle to be visualized, and damage thus avoided. There is a very small risk of inducing miscarriage (less than 1% in good hands). Preliminary tests on the mother's blood may indicate how strongly amniocentesis is to be advised.
— Stuart Judge
See antenatal development; congenital abnormalities; pregnancy; ultrasound.
| Where It's Done | Who Does It | How Long It Takes | Discomfort/Pain |
| Hospital, clinic or doctor's office. | Doctor with sonographer. | 20-45 minutes. | Some discomfort when needle enters the skin and then the uterus. |
| Results Ready When | Special Equipment | Risks/Complications | Average Cost |
| 1-2 weeks. | Syringe with needle, collecting tubes, and ultrasound guidance equipment. | Miscarriage rate of 0.5%-2%, injury to the fetus or placenta (rare), bleeding, and infection. Risk lowest when performed at 14-16 weeks. | $$$ |
Amniotic fluid analysis.
PurposeA sample of fluid that fills the amniotic sac surrounding the baby is drawn (see figure) and cells shed from the baby's skin and digestive tract are cultured (grown in the laboratory), allowing analysis of genes and chromosomes and measurement of other substances in the fluid.
Using ultrasound as a guide, a doctor uses a hollow needle to withdraw some of the amniotic fluid surrounding the fetus. Fetal cells in this fluid are then analyzed for various chromosomal abnormalities.

It cannot be performed as early in pregnancy as CVS, and takes longer for results.
The next stepIf an abnormality is detected, you will be referred to a genetic counselor, who can explain the implications of the test results.
One of the main concerns women have about amniocentesis is whether it will hurt. You will feel some discomfort when the needle enters the skin, and more when it penetrates the uterus, but most women find the test quite tolerable. If you are offered a local anesthetic, keep in mind that it will require an extra needle stick, which also adds time to the procedure and causes a slight burning sensation at first. Also remember that it numbs only the skin, not the uterine wall.
Many women worry about the needle accidentally pricking the baby. This is extremely uncommon, especially with direct ultrasound visualization. But it may put your mind at ease to know that for certain tests needles are deliberately put into fetuses, and they actually tolerate this quite well.
Definition
Amniocentesis is a procedure used to diagnose fetal defects in the early second trimester of pregnancy. A sample of the amniotic fluid, which surrounds a fetus in the womb, is collected through a pregnant woman's abdomen using a needle and syringe. Tests performed on fetal cells found in the sample can reveal the presence of many types of genetic disorders, thus allowing doctors and prospective parents to make important decisions about early treatment and intervention.
Purpose
Since the mid-1970s, amniocentesis has been used routinely to test for Down syndrome, by far the most common, nonhereditary, genetic birth defect, afflicting about one in every 1,000 babies. By 1997, approximately 800 different diagnostic tests were available, most of them for hereditary genetic disorders such as Tay-Sachs disease, sickle cell anemia, hemophilia, muscular dystrophy, and cystic fibrosis.
Amniocentesis, often called amnio, is recommended for women who will be older than 35 on their due-date. It is also recommended for women who have already borne children with birth defects, or when either of the parents has a family history of a birth defect for which a diagnostic test is available. Another reason for the procedure is to confirm indications of Down syndrome and certain other defects which may have shown up previously during routine maternal blood screening.
The risk of bearing a child with a nonhereditary genetic defect such as Down syndrome is directly related to a woman's age—the older the woman, the greater the risk. Thirty-five is the recommended age to begin amnio testing because that is the age at which the risk of carrying a fetus with such a defect roughly equals the risk of miscarriage caused by the procedure–about one in 200. At age 25, the risk of giving birth to a child with this type of defect is about one in 1,400; by age 45 it increases to about one in 20. Nearly half of all pregnant women over 35 in the United States undergo amniocentesis and many younger women also decide to have the procedure. Notably, some 75% of all Down syndrome infants born in the United States each year are to women younger than 35.
One of the most common reasons for performing amniocentesis is an abnormal alpha-fetoprotein (AFP) test. Alpha-fetoprotein is a protein produced by the fetus and present in the mother's blood. A simple blood screening, usually conducted around the 15th week of pregnancy, can determine the AFP levels in the mother's blood. Levels that are too high or too low may signal possible fetal defects. Because this test has a high false-positive rate, another test such as amnio is recommended whenever the AFP levels fall outside the normal range.
Amniocentesis is generally performed during the 16th week of pregnancy, with results usually available within three weeks. It is possible to perform an amnio as early as the 11th week, but this is not usually recommended because there appears to be an increased risk of miscarriage when done at this time. The advantage of early amnio and speedy results lies in the extra time for decision making if a problem is detected. Potential treatment of the fetus can begin earlier. Important, also, is the fact that elective abortions are safer and less controversial the earlier they are performed.
Precautions
As an invasive surgical procedure, amnio poses a real, although small, risk to the health of a fetus. Parents must weigh the potential value of the knowledge gained, or indeed the reassurance that all is well, against the small risk of damaging what is in all probability a normal fetus. The serious emotional and ethical dilemmas that adverse test results can bring must also be considered. The decision to undergo amnio is always a matter of personal choice.
Description
The word amniocentesis literally means "puncture of the amnion," the thin-walled sac of fluid in which a developing fetus is suspended during pregnancy. During the sampling procedure, the obstetrician inserts a very fine needle through the woman's abdomen into the uterus and amniotic sac and withdraws approximately one ounce of amniotic fluid for testing. The relatively painless procedure is performed on an outpatient basis, sometimes using local anesthesia.
The physician uses ultrasound images to guide needle placement and collect the sample, thereby minimizing the risk of fetal injury and the need for repeated needle insertions. Once the sample is collected, the woman can return home after a brief observation period. She may be instructed to rest for the first 24 hours and to avoid heavy lifting for two days.
The sample of amniotic fluid is sent to a laboratory where fetal cells contained in the fluid are isolated and grown in order to provide enough genetic material for testing. This takes about seven to 14 days. The material is then extracted and treated so that visual examination for defects can be made. For some disorders, like Tay-Sachs, the simple presence of a telltale chemical compound in the amniotic fluid is enough to confirm a diagnosis. Depending on the specific tests ordered, and the skill of the lab conducting them, all the results are available between one and four weeks after the sample is taken.
Cost of the procedure depends on the doctor, the lab, and the tests ordered. Most insurers provide coverage for women over 35, as a follow-up to positive maternal blood screening results, and when genetic disorders run in the family.
An alternative to amnio, now in general use, is chorionic villus sampling, or CVS, which can be performed as early as the eighth week of pregnancy. While this allows for the possibility of a first trimester abortion, if warranted, CVS is apparently also riskier and is more expensive. The most promising area of new research in prenatal testing involves expanding the scope and accuracy of maternal blood screening as this poses no risk to the fetus.
Preparation
It is important for a woman to fully understand the procedure and to feel confident in the obstetrician performing it. Evidence suggests that a physician's experience with the procedure reduces the chance of mishap. Almost all obstetricians are experienced in performing amniocentesis. The patient should feel free to ask questions and seek emotional support before, during and after the amnio is performed.
Aftercare
Necessary aftercare falls into two categories, physical and emotional.
PHYSICAL AFTERCARE. During and immediately following the sampling procedure, a woman may experience dizziness, nausea, a rapid heartbeat, and cramping. Once past these immediate hurdles, the physician will send the woman home with instructions to rest and to report any complications requiring immediate treatment, including:
EMOTIONAL AFTERCARE. Once the procedure has been safely completed, the anxiety of waiting for the test results can prove to be the worst part of the process. A woman should seek and receive emotional support from family and friends, as well as from her obstetrician and family doctor. Professional counseling may also prove necessary, particularly if a fetal defect is discovered.
Risks
Most of the risks and short-term side effects associated with amniocentesis relate to the sampling procedure and have been discussed above. A successful amnio sampling results in no long-term side effects. Risks include:
Normal Results
Negative results from an amnio analysis indicate that everything about the fetus appears normal and the pregnancy can continue without undue concern. A negative result for Down syndrome means that it is 99% certain that the disease does not exist.
An overall "normal" result does not, however, guarantee that the pregnancy will come to term, or that the fetus does not suffer from some other defect. Laboratory tests are not 100% accurate at detecting targeted conditions, nor can every possible fetal condition be tested for.
Abnormal Results
Positive results on an amnio analysis indicate the presence of the fetal defect being tested for, with an accuracy approaching 100%. Prospective parents are then faced with emotionally and ethically difficult choices regarding treatment options, the prospect of dealing with a severely affected newborn, and the option of elective abortion. At this point, the parents need expert medical advice and counseling.
Parental Concerns
There is a risk of miscarrage with this procedure.
When to Call a Doctor
If there is excess bleeding, a doctor should be contacted.
Resources
Books
Hassold, Terry and Schwartz, Stuart. "Chromosome Disorders." In Harrison's Principles of Internal Medicine, ed. Eugene Braunwald, et al. Philadelphia: McGraw-Hill, 2001.
Miesfeldt, Susan and Jameson, J. Larry. "Screening, Counseling, and Prevention of Genetic Disorders." In Harrison's Principles of Internal Medicine, ed. Eugene Braunwald, et al. Philadelphia: McGraw-Hill, 2001.
Wallach, Jacques. Interpretation of Diagnostic Tests, 7th ed. hiladelphia, PA: Lippincott Williams & Wilkens, 2000.
Organizations
American College of Obstetricians and Gynecologists. 409 12th St., S.W., P.O. Box 96920, Washington, DC 20090-6920.
Organizations
National Institutes of Health.
[Article by: Mark A. Best]
Amniocentesis is generally recommended when there is a family history of genetic disorders or when the woman is over age 35 and therefore at a higher risk of having a baby with a chromosomal abnormality. The procedure is usually carried out around the 14th or 15th week of pregnancy, when there is sufficient amniotic fluid and abortion is still an option. It can also be used in the third trimester (after 30 weeks) when Rh incompatibility (see erythroblastosis fetalis) is suspected, or to determine the status of the fetus in early or late delivery or when there are signs of fetal distress.
See also birth defects; chorionic villus sampling; embryo biopsy.
A procedure for finding certain disorders in a fetus during pregnancy. In amniocentesis, a small amount of the salty liquid that surrounds the fetus in the amniotic sac is drawn out through a needle inserted into the mother's abdomen. The fluid generally contains some isolated cells from the fetus. These cells are analyzed to detect abnormalities in the chromosomes of the fetus, such as Down's syndrome, and may also be used to judge some other conditions, such as the maturity of the fetus's lungs.
| ammonotelic, ammonolysis, ammonium sulfate | |
| amnion, amoeba, amoebapore |
Transabdominal perforation of the amniotic sac for the purpose of obtaining a sample of amniotic fluid, which contains cells shed from the skin of the fetus as well as biochemical substances.
A procedure in which fluid is drawn from the amniotic sac by a hollow needle and tested, especially to determine the sex of the fetus and the presence of any genetic or chromosomal abnormalities.

| Amniocentesis | |
|---|---|
| Intervention | |
| ICD-9-CM | 75.1 |
| MeSH | D000649 |
Amniocentesis (also referred to as amniotic fluid test or AFT) is a medical procedure[1] used in prenatal diagnosis of chromosomal abnormalities and fetal infections,[2] in which a small amount of amniotic fluid, which contains fetal tissues, is sampled from the amnion or amniotic sac surrounding a developing fetus, and the fetal DNA is examined for genetic abnormalities. This process can be used for prenatal sex discernment and hence this procedure has legal restrictions in some gender-biased countries.
|
Contents
|
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 fetus and extracts approximately 20 ml of amniotic fluid.
If used for prenatal genetic diagnosis, fetal cells are separated from the extracted 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 (trisomy 21), Edwards syndrome (trisomy 18), and Turner syndrome (monosomy X). In regard to the fetus, the puncture heals and the amniotic sac replenishes the liquid over the next 24–48 hours.[3][4]
Early in pregnancy, amniocentesis used for diagnosis of chromosomal and other fetal problems such as:
Amniocentesis can predict fetal lung maturity, which is inversely correlated to the risk of infant respiratory distress syndrome. In pregnancies of greater than 30 weeks, the fetal lung maturity may be tested by sampling the amount of surfactant in the amniotic fluid. Several tests are available that correlate with the production of surfactant. These include the lecithin-sphingomyelin ratio ("L/S ratio"), the presence of phosphatidylglycerol (PG), and more recently, the surfactant/albumin (S/A) ratio. For the L/S ratio, if the result is less than 2:1, the fetal lungs may be surfactant deficient. The presence of PG usually indicates fetal lung maturity. For the S/A ratio, the result is given as mg of surfactant per gm of protein. An S/A ratio <35 indicates immature lungs, between 35-55 is indeterminate, and >55 indicates mature surfactant production(correlates with an L/S ratio of 2.2 or greater).
Amniocentesis can also be used to detect problems such as:
An emerging indication for amniocentesis is in the management of preterm rupture of membranes where measurement of certain amniotic fluid inflammatory markers may be helpful. If amniotic fluid IL-6, a marker of inflammation, is elevated, the fetus is at high risk and delivery should be considered.[7]
Amniocentesis is performed between the 15th and 20th week of pregnancy; performing this test earlier may result in fetal injury.[8] The term "early amniocentesis" is sometimes used to describe use of the process between weeks 11 and 13.[9]
Complications of amniocentesis 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%).[10] Three more recent studies from 2000-2006 estimated the procedure-related pregnancy loss at 0.6-0.86%. [11] A more recent study (2006) has indicated this may actually be much lower, perhaps as low as 1 in 1,600 (0.06%). [12]. Unlike the previous studies, the number in this study only reflects the loss that resulted from amniocentesis complications and excluded the cases when parents decided for an abortion following the test results.[11] In contrast to amniocentesis, 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.[13]
Amniotic fluid embolism has been described as a possible risk.[14]
Recent studies have discovered that amniotic fluid can be a rich source of multipotent mesenchymal, hematopoietic, neural, epithelial, and endothelial stem cells.[15][16][17]
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. These stem cells would also, if used to treat the same individual they came from, sidestep the donor/recipient issue which has so far stymied all attempts to use donor-derived stem cells in therapies.
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[citation needed]. Tissues obtained from amniotic cell lines show promise for patients suffering from congenital diseases/malformations of the heart, liver, lungs, kidneys, and cerebral tissue.[18]
The first amniotic stem cells bank in US is active in Boston, Massachusetts.[19][20][21][22]
|
|||||||||||||||||||||||||||||
|
|||||||||||||||||||||||||||||||||||||||||||||||
This entry is from Wikipedia, the leading user-contributed encyclopedia. It may not have been reviewed by professional editors (see full disclaimer)
Dansk (Danish)
n. - fostervandsprøve
Nederlands (Dutch)
vruchtwaterpunctie
Français (French)
n. - amniocentèse
Deutsch (German)
n. - Fruchtwasserentnahme
Ελληνική (Greek)
n. - αμνιοκέντηση
Italiano (Italian)
amniocentesi
Português (Portuguese)
n. - âmniocentese (f) (Med.)
Русский (Russian)
взятие на анализ околоплодных вод
Español (Spanish)
n. - amniosíntesis
Svenska (Swedish)
n. - fostervattensprov
中文(简体)(Chinese (Simplified))
羊膜穿刺术
中文(繁體)(Chinese (Traditional))
n. - 羊膜穿刺術
עברית (Hebrew)
n. - בדיקת מי-שפיר