Amniocentesis Genetic Profile

Amniocentesis is a test performed during pregnancy to check for chromosomal disorders, certain genetic disorders, and infections in the baby.

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Amniocentesis is invasive testing involves taking a small sample of the amniotic fluid that surrounds the fetus.

Amniocentesis is a test performed during pregnancy to check for chromosomal disorders, certain genetic disorders, and infections in the baby. Amniocentesis can be done at any stage during the pregnancy for various reasons. Usually, offered to women between the 15th and 20th week of pregnancy.

Testing is available for other genetic defects and disorders depending on your family history and the availability of lab testing at the time of the procedure.

Amniotic fluid contains the baby’s cells which are analyzed in the lab.

Fluorescent In Situ Hybridization (FISH) technique checks for the most common chromosomal abnormalities, namely trisomy 21 (Down syndrome), trisomy 18 (Edward’s syndrome), trisomy 13 (Patau’s syndrome) and the sex chromosomes. Reported on: 3-6 Working Days
A full karyotype which shows all the 46 chromosomes of the baby is done by culturing the fetal cells. Reported on: 15-21 Working Days

Why is it done?

A ‘high risk’ for chromosomal disorders on first trimester or second trimester screening (Dual, triple, Quadruple Marker or NIPT (Non-Invasive prenatal testing)
A high suspicion for Down syndrome on ultrasound in the second trimester
An abnormality in the baby at the anomaly scan
To rule out certain genetic disorders like SLO syndrome, icthyosis etc.
To confirm fetal infection when the mother is suspected to have certain infections, like rubella, CMV, toxoplasma, etc.
Family history/ parents affected with a specific genetic condition
High maternal age: >35 yrs

What are the Possible complications?

Amniocentesis carries few risks, which occur in approximately 1 in 900 tests as mentioned below:

Miscarriage (1 in 300 to 1 in 500). It usually occurs within the first 5 days of the procedure
Risk is higher if the procedure is done before 15 weeks of pregnancy and BMI>40kg/m2
Previous episode of vaginal bleeding during current pregnancy
History of previous spontaneous abortions
Leaking amniotic fluid: Rare
Infection: Rare
Infection transmission from mother to baby (If the mother has Hepatitis C or Toxoplasmosis)
Needle injury: Rare

How to Prepare for the Procedure?

Before the procedure:

If the amniocentesis is done before the 20th week of pregnancy, the urinary bladder should be full. The doctor advises to have lots of water/fluids before the procedure and refrain from urinating till amniocentesis is done. However, if the procedure is done after the 20th week of pregnancy, the doctor advises having an empty bladder.

There is a consent form which is to be signed before the procedure. Patient is often advised to get a companion along to provide emotional strength and accompany the pregnant woman safely to the home.

During the Procedure:

Amniocentesis is performed in the radiology department as per the following steps mentioned.

The woman is asked to lie down on her back on the examination table and the abdominal area is exposed.
A special clear gel is applied on the surface of the abdomen to remove any air between the skin and transducer (a small device used in the ultrasound)
Following this, the sound waves are sent out and the reflections are captured to form an image of the fetus on the monitor.
By doing this the mother can be shown the picture of the baby inside the womb.
Then abdomen is then cleansed with an antiseptic and a fine hollow needle is inserted into the abdomen to reach the uterus.
Through the syringe, a small sample of the amniotic fluid is extracted and the needle is removed. The amount of the sample fluid collected depends on the weeks of pregnancy.
The doctor can easily measure the size of the head and thighbone of the fetus along with the details of its growth and development. The doctor can also record the heartbeat, weight, and any complication in the fetus easily.
With this ultrasound, the doctor can know the exact gestational age of the fetus.

After the Procedure:

The procedure takes approximately 20 to 30 minutes to complete and the collected sample is sent to the lab for further detailed analysis.

After the procedure of amniocentesis is over, it is best for you to go home and relax for the remaining day.
Do not rush to your workplace or anywhere else which puts physical strain on you as this might harm the baby after the procedure.
There might be some vaginal bleeding after the procedure. So, the patient is advised to avoid extreme physical activities for at least two days.
In some cases, there might be heavy bleeding from the vagina, abdominal pain, cramps in the uterus, continuous leakage of fluid from the vagina, fever, lack of baby movements or extreme unusual baby movement, inflammation (redness) at the site of needle insertion. In such scenarios, the doctor must be informed immediately.
After receiving the reports, the doctor explains the observations to the pregnant mother in detail.

Amniocentesis Genetic Profile

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NRS. 26500 NRS. 28500

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