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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.

Amniocentesis is a diagnostic test generally used to identify chromosome abnormalities like Down
syndrome, trisomy 18 and trisomy 13 during pregnancy. Amniocentesis can also be used to identify some
other birth defects, such as spina bifida.

Amniocentesis involves removing a small amount of amniotic fluid (the fluid surrounding the developing
baby) with a thin needle inserted through the mother's abdomen. Using the ultrasound, the doctor is able
to locate and remove this fluid without touching the developing  baby. In the fluid are skin cells from the
baby, and these cells contain the baby’s chromosomes. These cells are removed from the amniotic fluid,
and the chromosomes are studied in the laboratory.  Since Down syndrome, trisomy 18 and trisomy 13
are caused by an extra chromosome, these conditions, as well as other chromosome abnormalities, can be
detected by amniocentesis.

The results of the amniocentesis are usually available in about two weeks. Although amniocentesis is
considered a safe procedure when performed by medical experts at a state-approved PDC, there is a small
risk of miscarriage with this procedure (less than 1 in 300). A genetic counselor will discuss with you the
risks, benefits and limitations of amniocentesis.

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.
Amniocentesis is an invasive procedure used to obtain amniotic fluid for prenatal diagnosis of a fetus

(e.g., assessment of fetal lung maturity).

In the 1950s the measurement of bilirubin concentrations present in amniotic fluid in monitoring the

rhesus diseases was first reported. Amniocentesis for fetal chromosome analysis was also initiated in the

1950s. The first application was for fetal sex determination. Down syndrome via amniocentesis was first

detected in 1968.

Cells naturally are exfoliated from the surface and from the mucosae of the fetus and some of these cells

survive for a time in the fluid surrounding the fetus in the amniotic cavity. Soluble biochemical material of

clinical

significance produced by the fetus may also accumulate in the amniotic fluid. The fluid can be analyzed for

these substances directly.

For amniocentesis, the maternal abdomen is washed with antiseptic solution. A local anesthetic is given

and a hollow needle (22 gouge) is inserted through the mother's abdominal wall into the amniotic cavity

avoiding the placenta if possible and a sample of the fluid (approximately 20 mL) is withdrawn with a

syringe attached to the needle. In order to insure the safety of the fetus, the procedure is monitored in

real time via an ultrasound scan. In twin pregnancies, after withdrawal of amniotic fluid of the first sac, an

injection of a dye is necessary to understand if the fluid of the second sac has been drawn. If the fluid of

the second puncture is clear, then it does not come from the first sac.

Viable cells in the fluid are then cultured (grown) in vitro. At 16 weeks' gestation amniotic fluid contains

200,000 cells mL, but a very small number are capable of forming colonies. The chromosomes of the

cultured cells can then be examined.

Viewing the chromosomes under a light microscope will reveal if a normal diploid number of

chromosomes are present or if extra or fewer chromosomes are present. Additionally, structural

chromosomal aberrations, as well as uniparental disomies can be detected.

FISH (fluorescence in situ hybridization) analysis can also be used for rapid detecting numerical

anomalies involving chromosome 13, 18, 21, X and Y. Quantitative polymerase chain reaction (Q-PCR)

has been also used for detecting the most common aneuploidies. More recently, it has been shown how

amniocentesis can be used for detecting DNA anomalies responsible for the etiology of many autosomal

and X-linked disorders as well as hemophilia A, sickle cell anemia, DiGeorge syndrome, and other

diseases.

Amniocentesis is an elective procedure that can detect the presence of many types of genetic disorders,

thus allowing doctors and prospective parents to make important decisions about early treatment and

intervention. Down syndrome is a chromosomal disorder characterized by a diversity of physical

abnormalities, mental retardation, and shortened life expectancy. It is by far the most common,

nonhereditary, genetic birth defect, afflicting about one in every 1,000 babies. Since the risk of bearing a

child with a nonhereditary genetic defect such as Down syndrome is directly related to a woman's age,

amniocentesis is recommended for women who will be older than 35 on their due date. Thirty-five is the

recommended age to begin amniocentesis 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 1 in 200.

Maternal complications of amniocentesis such as septic shock and amnionitis are rare. Rhesus

isoimmunization can be prevented by prophylactic administration of anti-D immunoglobulin to Rh-negative

women. Risk of abortion has been quoted of 1% about for single pregnancies and 3% about for twin

pregnancies. Amniocentesis is ordinarily performed between the 14th and 16th week of pregnancy, with

results usually available within three weeks. It is possible to perform amniocentesis 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. Furthermore, the CEMAT study (Canadian Early and Mid Trimester Amniocentesis

Trail) in 1998 cleared that early amniocentesis from 11 to 12 weeks is associated with significant

disadvantages because of difficult or unsuccessful procedures as well as more than one needle insertion

and more likely fetal cells culture failure. The advantage of early amniocentesis is the extra time for

decision making if a problem is detected. Potential treatment for the fetus can begin earlier. Elective

abortions are safer and less controversial the earlier they are performed.
Amniocentesis

Since 1882, millions of pregnant women have undergone a test called amniocentesis. You may
know someone who has had this pregnancy test performed or you may have had it done yourself. An
amniocentesis is a common prenatal test used to analyze the amniotic fluid surrounding your baby in the
fifteenth week of pregnancy.

Do I Need Amniocentesis?
You may be recommended to have an amniocentesis for a variety of reasons, some of which are:

 You are over the age of 35

 You received abnormal screening test results
 You have had a previous pregnancy with a

 chromosome abnormality or birth defect

 You have a family history of genetic disorders
 An infection in either you or your baby is suspected

For whatever reason an amniocentesis has been recommended to you, you should consider all your
options, as there are medical risks involved.

How is the Procedure Done?

An amniocentesis can be performed in the doctor’s office and takes about 45 minutes. For this prenatal
test, you will undress and lie down on an examination table. The doctor will use an ultrasound to
determine where the baby is located so as not to prick your baby with the needle. Your abdomen will be
disinfected with an antiseptic and you may possibly be given a local anesthetic. The doctor will administer
a needle through your abdomen to extract amniotic fluid from your uterus.

What it Feels Like

During an amniocentesis, you may feel a stinging sensation from the needle and possibly mild cramps
during the procedure. After the test,you may feel weak or nauseated and you are advised to not perform
any hard labor for a few hours. If you experience any dizziness, fever, severe cramps, fluid or blood
leaking, or swelling at the needle entry, point you should contact your doctor.

Genetic or Maturity Amniocentesis?

Genetic Amniocentesis
A genetic amniocentesis will test for abnormal chromosomes or genes found in the cells of your amniotic
fluid. This testing can reveal if your baby has Down syndrome or spina bifida. Some genetic results can be
ready in a few days while others may take from two to three weeks.

If your doctor suspects your baby may be at risk for conditions such as cystic fibrosis, sickle cell disease,
hemophilia, or fetal anemia, she will use amniocentesis to look for these disorders. An amniocentesis can
also diagnose infections in your uterus and the compatibility of your blood with your baby’s blood.
However, amniocentesis cannot detect common birth defects, such as cleft lip and palate, club foot or
heart defects.

Maturity Amniocentesis
A maturity amniocentesis is the same as the genetic test except your baby’s lungs are being tested for
maturity for an early delivery. During this procedure, your doctor will analyze the compounds found in
your baby’s lung to see if he is ready to breathe air. This test is usually done when preterm labor is
expected or recommended. The results of this test are usually ready within hours.

Risks of Amniocentesis
Amniocentesis performed after the 15th week carries a one in 200 rate of miscarriage. The earlier in your
pregnancy the test is performed, the greater the risk of miscarriage. If the test is performed before the
15th week, there is a one in 100 risk of miscarriage. Usually a genetic amniocentesis is performed in the
second trimester after the fetal membranes have sufficiently fused together. At this point, the test
presents less of a risk to your baby.

Why is amniocentesis done?

It will detect Down's Syndrome and other rare conditions.

What is amniocentesis?

It is a test in which a sample of amniotic fluid that surrounds your baby is removed from the pregnant
uterus by suction using a very fine needle.

How does it work?

Cells from the baby are shed into the amniotic fluid. These sample cells can be grown in the laboratory
and studied to detect various genetic disorders in the unborn child. Provided the cells grow it will tell
you if your baby is normal.

How is amniocentesis done?

The doctor will insert a very fine needle through your tummy, (usually without a local anaesthetic),
into the womb and remove some amniotic fluid. The baby produces the amniotic fluid and the fluid
removed at the time of amniocentesis will be replaced within 48 hours.

What are the disadvantages of the amniocentesis test?

There is an increased risk of miscarriage (1 in 200). It also takes a long time for the results to come
back (up to three weeks). There is also a chance that the cells may fail to grow and then the test will
have to be repeated.

AMNIOCENTESIS
Amniocentesis is a procedure in which some of the amniotic fluid surrounding the baby is removed from
the mother's uterus. The amniotic fluid has passed in and out of the baby's body, and therefore contains
some of the baby's cells. These cells can be read to see if a disease such as Down syndrome, spina bifida,
cystic fibrosis, Tay-Sachs, sickle-cell anemia, or anencephaly is present.

Why Is Amniocentesis Used? This test is used to obtain information about the baby's genetic makeup and
the potential for genetically inherited diseases. It can also determine the gender of the baby. In addition,
if there are concerns that the baby will be born prematurely, amniocentesis can determine if the baby's
lungs are mature enough to breathe normally after birth.

How Is Amniocentesis Done? A hollow needle is inserted into the mother's uterus through her abdomen. A
local anesthetic may be used, though discomfort might still be experienced. Ultrasound is conducted
before the amniocentesis to determine the position of the baby and the placenta, to avoid hitting them
with the needle. About half an ounce of amniotic fluid is removed for study. This test should take less than
30 minutes.

If you decide to have amniocentesis, you will need to take the day off. It is done either in a doctor's office
or in a hospital. You will probably be advised to lie down at home after the test and rest. Some
practitioners suggest their patients have a glass of wine to relax and reduce cramping. You will get results
from the test in about two to three weeks. Your practitioner will not reveal the baby's sex to you unless
you specifically ask for this information.

When Is Amniocentesis Necessary? As mentioned earlier, ACOG now recommends the less invasive triple
screen in all pregnancies for women over 35, following up with amniocentesis only if high risk is indicated.

When Is Amniocentesis Unnecessary? Genetic conditions happen to the babies of women of all ages, while
genetic accidents, such as Down syndrome, occur more often in the children of older mothers. This is one
reason amniocentesis was routinely prescribed for women over 35, until recently. It may be, however,
that other age-related factors, such as diet, general health, exercise, and exposure to radiation and
environmental toxins-rather than age alone-are the real causes of genetic anomalies. That's why age
alone is not an absolute indicator of risk.14 You can review questions regarding your own personal risks
with your birth attendant.

How Effective Is Amniocentesis? While amniocentesis can diagnose hundreds of diseases and conditions, it
is most effective when the laboratory is instructed to look for a specific condition. The procedure has two
major disadvantages in terms of acting on the information. It can take two to three weeks for the results
to become available, and the procedure is not usually done until the end of the fourth month, when
sufficient fluid for testing is available. Culture failure, which occurs in 2 percent of test samples, can
require a repeat sample and therefore prolong final results until well past the middle of the pregnancy.

Is Amniocentesis Safe? Amniocentesis carries a miscarriage risk of 1 to 3 percent (almost three times the
miscarriage rate in a pregnancy where amniocentesis has not been performed).15 With a more
experienced practitioner, the risk may be slightly less. Studies also show a risk of low-birth-weight infants
in about 0.5 percent of women who have undergone the test, and an increase in respiratory distress
syndrome in their infants.16

Side effects of the procedure itself include cramping, bleeding, and leaking of amniotic fluid. These side
effects may be quite minor, or severe. In addition, those women whose tests have to be readministered
double their risk of miscarriage, from 3 to 6 percent.

Amniocentesis

This information is provided by St. Luke’s Medical Center to help answer some basic questions about
prenatal diagnosis and amniocentesis. If you are uncertain about whether to have the procedure or if you
have more questions, we encourage you to discuss these issues with your health care provider.

What is an amniocentesis?
During an amniocentesis, a thin needle is put through a woman’s abdomen and into the fluid-filled sac
around the developing baby. A small amount of fluid is taken out through the needle. Then the fluid is
sent to the laboratory for testing.

Why would a woman have an amniocentesis?

The fluid taken during an amniocentesis can be used to test for various birth defects and genetic
conditions. These tests are usually very accurate and will usually be able to tell with a high level of
certainty whether or not the baby has the condition or conditions that are being tested for. Amniocentesis
is usually only offered if a woman is at higher than average risk to have a child with certain birth defects.
The most common risk factors include:

 A mother who will be 35 or over at the time of delivery. As women get older there is a higher
chance of having a child with a chromosome abnormality. The most common chromosome
abnormality is Down syndrome, but there are other chromosome abnormalities as well. Some
other chromosome abnormalities are milder than Down syndrome and some are more severe.
 A woman who has had a blood test, such as the maternal serum multiple marker screen, which
suggests she is at higher than average risk to have a child with a chromosome problem or spina
bifida.
  Physical birth defects or differences that have been seen on ultrasound. In these cases the
amniocentesis can sometimes provide more information about the cause of these birth defects.
 Couples with a family history of certain genetic conditions. Many genetic conditions such as cystic
fibrosis, muscular dystrophy, and some forms of mental retardation can be tested for by
amniocentesis; however, these tests are not done on every woman.

If you know you carry a genetic trait or have a family member with a genetic condition, please talk to your
health care provider or genetic counselor about whether testing may be available for this condition.
Setting up genetic testing can be a complex process, so it is recommended that these issues be discussed
before becoming pregnant, or as early in the pregnancy as possible.

Is amniocentesis safe?
Amniocentesis is a routine medical procedure, but it does carry a small risk. Occasionally, a woman will
have bleeding or leakage of amniotic fluid after the procedure. Amniocentesis can cause miscarriage—
about 1/200 women who have amniocentesis will experience a serious complication or miscarriage
following the
procedure. Because ultrasound is used during the amniocentesis, the risk of damaging the developing
baby and causing a birth defect is very small.

Is amniocentesis required?
The primary reason for having amniocentesis is to provide information for a pregnant woman, her family,
and her health care provider. In most cases, a woman and her family will decide if they want
amniocentesis based on the risks and benefits of the procedure. Sometimes, the information provided by
the amniocentesis will be important to the care of the pregnancy. In such cases, a health care provider
may recommend the amniocentesis, but the final decision about the amniocentesis is still made by the
pregnant woman.

When is amniocentesis done?

The usual time to do an amniocentesis is around 15 weeks from the first day of a woman’s last period. In
some cases, early amniocentesis can be attempted between 13 and 15 weeks. The advantage of early
amniocentesis is that results are available earlier, but it may also have a slightly higher risk of
complications. If you are interested in early amniocentesis, we encourage you to talk to your health care
provider or to St. Luke’s Maternal Fetal Medicine staff.

What should I do to prepare for an amniocentesis?

It is generally not necessary to have a full bladder. However, if you are having an early amniocentesis it
may be helpful to not empty your bladder starting 30 to 45 minutes before your appointment.

You may be more comfortable wearing a two piece outfit. Otherwise, no special preparation is necessary
before your appointment.

What should I expect on the day of the amniocentesis?

Generally, a woman will meet with a genetic counselor before the amniocentesis. The counselor will review
the risk(s) and benefits of the amniocentesis and answer any questions you may have. The genetic
counselor will assist you with necessary paperwork, arrange for communication of results, and take a
pregnancy and family history. If you are undecided about having an amniocentesis or if it is more
convenient, the genetic counseling appointment can be scheduled several days or weeks before the day of
the amniocentesis.

Prior to the the amniocentesis a brief ultrasound will be done to locate the best place from which to
withdraw fluid. Ultrasound may also detect abnormalities in the fetus, but these are often hard to see at
the point in pregnancy when amniocentesis is done. Therefore, you may wish to talk to your health care
provider about having a thorough ultrasound done between 18 and 20 weeks.

Once the physician has determined the best place to put the needle, the area is cleaned and prepared.
With the ultrasound on, the needle is inserted and the fluid removed. The needle is never placed through
the belly button. The procedure itself takes under 10 minutes and the removal of the fluid takes about 2
minutes. Most women say the procedure is not painful; some will experience a feeling of pressure or
cramping.
Can someone be with me during the amniocentesis?
Yes, in most cases your partner, friend, or family member can be with you. Because children may not
understand the procedure and may find it frightening, we encourage you to make other arrangements for
their care.

What should I do after the procedure?

At a minimum, a woman should avoid heavy lifting, strenuous activity and sexual intercourse for 48 hours
after the procedure. In addition, bed rest may be suggested for the remainder of the day.

How accurate is the amniocentesis?

Amniocentesis is quite accurate (>99%) in detecting chromosome problems and open neural tube defects.
However, the amniocentesis does not test for all birth defects. About 3-5% of babies are born with some
kind of birth defect. Many tests can be done on the amniocentesis, but not all tests are right for all people.
Before the amniocentesis, the genetic counselor will work with you to determine (based on your personal
and family history) which tests will be done. Current technology does not allow us to test for all possible
birth defects, so it is possible for a baby to be born with a birth defect that was not detected through the
amniocentesis.

Occasionally, there will be technical problems with the sample. For example, not enough fluid may be
taken or the cells from the amniotic fluid may not grow. In these cases, you will be told as soon as
possible and be given the option of repeating the amniocentesis.

When and how will I receive my results?

You should expect to get results about 2 weeks after the amniocentesis. Typically, results will be given to
you by telephone as soon as they are available. If you require special arrangements for getting your
results, these can be made with the genetic counselor or nurse at the time of your appointment.

What happens if the amniocentesis shows that the baby has a birth defect?
Most results are normal, but if the testing shows that the baby has a birth defect, you will be provided
with as much information as possible about the condition and your options. For some families, having this
information helps them prepare for the birth of a child with special needs. Other families who learn of a
serious birth defect may choose to end the pregnancy or to place the baby for adoption. Genetic
counseling is available to help families learn more about their options and make the decision which is most
consistent with their personal beliefs and values. We strongly believe each family has the right and the
ability to make an informed decision, and it is the role of the genetic counselor and other health care
providers to support them through this process.

Does insurance pay for amniocentesis?

In most cases, insurance covers the cost of amniocentesis at the same rate that it pays for other obstetric
care. We strongly suggest you contact your insurance carrier prior to your appointment to determine the
extent of your coverage.

What if I am not sure I want the amniocentesis?

You may wish to discuss this with your health care provider. In addition, if you are undecided about
having the amniocentesis you may wish to meet with the genetic counselor several days or weeks before
the time an amniocentesis would be scheduled. This visit will help you think through the issues relevant to
your family and assist in your decision-making process. The goal of genetic counseling is to help you make
the decision that is most appropriate for you based on your individual situation, beliefs, and values.