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Amniocentesis and fetal blood transfusion

 

Amniocentesis (also referred to as amniotic fluid test or AFT), is a medical procedure used in prenatal diagnosis of chromosomal abnormalities and fetal infections, in which a small amount of amniotic fluid, which contains fetal tissues, is extracted from the amnion or amniotic sac surrounding a developing fetus, 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 fetus 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 (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



Indications:

. Early in pregnancy, used for diagnosis of chromosomal and other fetal problems such as:
• Down syndrome (trisomy 21)
• Trisomy 13
• Trisomy 18
• Fragile X
• Rare, inherited metabolic disorders
• Neural tube defects (anencephaly and spina bifida) by alpha-fetoprotein levels.
Later on, it also can be used to detect problems such as:
• Infection
• Rh incompatibility
• Prediction of lung maturity
• Decompression of polyhydramnios
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.

Fetal blood transfusion:

Definition
 

 


This procedure is done when a baby that is still in the womb suffers from severe anemia. Anemia is a lack of red blood cells. When the baby's blood count falls too low, a transfusion is needed. A transfusion means giving the baby red blood cells from a donor.
There are two types of fetal blood transfusions:
• Intravascular transfusion (IVT)—done through the mother’s abdomen into the fetus’ umbilical cord; more common procedure
• Intraperitoneal transfusion (IPT)—done through the mother’s abdomen and uterus into the fetus’ abdomen; usually only done if IVT is impossible to do because of the position of the baby and the umbilical cord

 

Reasons for Procedure

Fetal blood transfusions are done because the baby in the womb is suffering from severe anemia and could die without this transfusion. Anemia can be caused by:
• Rh incompatibility —the mother and baby have a different type of blood, and mother’s antibodies to fetal blood cells lyse (destroy) fetal blood cells.
• Parvovirus B19 infection —a viral infection the mother can get
The goals of fetal blood transfusions are to:
• Prevent or treat fetal hydrops before delivery—Hydrops is caused by severe anemia in the fetus. The fetus develops heart failure. This leads to fluid collecting in the skin, lungs, abdomen, or around the heart.
• Continue pregnancy so the baby can be born close to term


Possible Complications

Possible complications for mother and fetus include:
• Need for cesarean section (C-section) due to fetal distress after the procedure
• Premature labor
• Graft versus host disease in the fetus (a rare condition in which the donor’s blood cells attack the baby's blood cells)
• Abdominal bruising or soreness
• Bleeding, cramping, or leaking fluid from vagina
• Infection
• Injury to the fetus
• Giving too much blood
• Fetal bleeding
• Causing your water to break
Be sure to discuss these risks with your doctor before the procedure.

 

What to Expect

Prior to Procedure


To see if the fetus has severe anemia or fetal hydrops, the doctor may do these tests:
• Amniocentesis —a sample of amniotic fluid is taken
• Cordocentesis—a blood sample from the umbilical cord is taken
• Ultrasound —a test that uses sound waves to examine the internal organs


Amniocentesis
Amniocentesis

If the fetus has hydrops, the blood transfusion will be done right away.
Before the transfusion, you may be given:
• Pain medicine
• Muscle relaxant through an injection or an IV

 

Anesthesia


Local anesthesia—numbs a small area of your abdomen

Description of the Procedure
With IVT, the fetus will be paralyzed for a short time. This is to allow access to fetal blood vessels and to reduce injury to the fetus. During both IVT and IPT, the doctor will monitor the fetus with an ultrasound scan. The ultrasound will:
• Show the position of the fetus
• Guide the placement of the needle through the amniotic sac and into the vessel in the umbilical cord
• Record the fetal heart rate
The doctor will insert a needle into your abdomen. Using ultrasound, the doctor will make sure the needle is placed correctly. The needle will go through your abdomen and be inserted into the umbilical cord (IUT) or into the fetal abdomen (IPT). Blood will be transfused to the fetus.
Before the needle is removed, the doctor will take a final blood sample. This is to determine the fetus' blood level (called hematocrit). The doctor will find out whether the transfusion was enough and when the next one should be.
The transfusions may need to be repeated every 2-4 weeks until your doctor decides that it is safe to deliver the baby.

How Long Will It Take?
A 10 ml IVT transfusion will take 1-2 minutes. Usually, between 30-200 ml is transfused during a single procedure.

How Much Will It Hurt?
You will feel pain and cramping where the doctor inserts the needle. If you are close to delivering the baby or if the procedure is long, the uterus will be sore.

Average Hospital Stay
This procedure is done in a hospital setting. You will be able to go home after the transfusion. If complications occur, you may need to have a C-section.

Post-procedure Care
The doctor may give you:
• Antibiotics to prevent infection
• Medicine to prevent contractions or labor
Be sure to follow your doctor’s instructions.
Once your baby has finally delivered, the baby will need to have follow-up blood tests. The doctor will closely monitor the baby for:
• Anemia
• Liver damage
• Congestive heart failure
• Respiratory failure
• Other complications if the baby is premature
 

 

 

 

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