UN BORN BABIES AMNIOCENTESIS

So at first tell me you all readers that on 03/12/2018 Our College students of (INDIAN INSTITUTE OF LEGAL STUDIES) were invited for a meaningful discussion with Dr. Paras Nath (DGO ,MD, MRCOG CONSULTANT OBSTETRICIAN & GYNECOLOGIST) at SILIGURI HOSPITAL  regarding MEDICAL TERMINATION OF PREGNANCY.. Nearly about 50 students visited and gained a huge knowledge regarding MTP ACT. The respected Doctor invited questions from us and very maturely answered. Thanks to our College and respected teacher Mr. Souvik Dhar, (Asst. Professor) of Indian Institute of Legal Studies under whose supervision we were able to attend the Lecture.

 AMNIOCENTESIS

Amniocentesis is a test carried out during pregnancy to diagnose any problems or serious health conditions your baby has developed or could develop.

WHAT IS AMNIOCENTESIS?

• A procedure performed usually in the beginning of pregnancy to detect chromosomal abnormalities in the fetus.
• Usually done when a woman is between 16 and 22 weeks pregnant.
• During this procedure a sample of amniotic fluid is taken from the amniotic sac (amnion) surrounding the unborn baby and its DNA is examined for genetic abnormalities.
• The amniotic fluid - has cells that the skin of the developing baby has shed, as well as his/her waste products. Each cell from the baby in the fluid contains their complete set of DNA (genetic information). Analyzing these cells helps the doctors assess the fetus health and detect any potential problems.
• The entire amniocentesis appointment lasts approximately 45 minutes - most of which involves a detailed ultrasound examination.

WHO IS IT OFFERED TO?

Amniocentesis is offered for :-

• A woman who will be 35 years old or more at time of delivery.
• A couple with a child or other family member with a chromosome abnormality or a neural tube defect.
• A woman with a positive screening test result.
• A couple in which one partner has a chromosome rearrangements.
• A couple with an increased risk of having a child with a genetic disease for which testing is available.

WHAT CAN BE DETECTED TROUGH AN AMNIOCENTESIS?

• Nearly all chromosome disorders, including DOWN'S SYNDROME as well as sex chromosome abnormalities (such as TURNER SYNDROME & KLINEFELTER SYNDROME).
• Several hundred genetic disorders, such as CYSTIC FIBROSIS & SICKLE CELL DISEASE. The test is not used to look for all of them, but if your baby is at increased risk for one or more of these disorders, in most cases amniocentesis can usually tell you whether he has the disease.
• Neural tube defects such as SPINA BIFIDA.
• Amniocentesis is the only way to obtain information about FETAL LUNG MATURITY.
• In order to understand amniocentesis it is important to know about certain parts of the body and how they work.

PROCEDURE OF AMNIOCENTESIS?

1. Under the guidance of ultrasound, a sterile needle is inserted through the abdominal wall into the amniotic.
2. A small amount of amniotic fluids is withdrawn through the needle.
3. The amniotic fluid contains fetal cells, which are separated from  the amniotic fluid and cultured.
4. Tests are then performed on the cultured cells - CHEMICAL ANALYSIS - DNA ANALYSIS - CHROMOSOMAL ANALYSIS.

After Procedure

• Advanced to rest for  24 hours
• No strenuous work, exercise for 72 hours.
• No air travel for 72 hours.
• Seek urgent medical attention if : FEELING SHIVERY, HIGH FEVER OF 38 DEGREE CELSIUS OR ABOVE.
• Persistent lower back pain &  abdominal pain.
• After the amniocentesis procedure, the sample of amniotic fluid (the fluid that surrounds the unborn baby in the womb) will be taken to a laboratory for testing.
• There are two different types of test : - A RAPID TEST  & A FULL KARYO TYPE.

A RAPID TEST

• A rapid test looks for abnormalities on specific chromosomes (the parts of the body's cells that carry genes). A rapid test can identify a number of chromosomal conditions that cause physical and mental abnormalities. These are:- 

        -DOWN'S SYNDROME    - Caused by an extra chromosome 21.  

        -EDWARD'S SYNDROME- Caused by an extra chromosome 18.

        -PATAU'S SYNDROME    -Caused by an extra chromosome 13.

• The results of a rapid test should be ready after three working days. This test is almost 100% accurate, but it only test for the three conditions listed above.

FULL KARYO TYPE

• Each cell in the body contains 23 pairs of chromosomes. A full karyotype checks all of these.
• The cells in the sample of amniotic fluid are grown for up to 10 days in a laboratory before being examined under a microscope to check for: - THE NUMBER OF CHROMOSOMES & THE APPEARANCE OF THE CHROMOSOMES.
• Results from a full karyotype will usually be ready in two or three weeks. In about  1 in every 100 tests, the results may not be clear. This could be due to the mother's blood contaminating the sample of amniotic fluid, which may have prevented the cells from growing properly.

WHO IS IT OFFERED TO?

• After  amniocentesis, the sample of amniotic fluid is sent to a lab for analysis.
• Results usually take 10 days to 3 weeks, depending on the lab.
• It takes that long to get results because the cells have to grow in the lab in order to analyze them.
•  In the lab, genetic and chemical tests are done.
• For genetic tests, certain chromosomes and genes are analyzed.
• For chemical tests, proteins, minerals and other compounds in the amniotic fluid are analyzed.
• Amniocentesis results will either be positive or negative.

AMNIOCENTESIS RESULTS WILL EITHER BE POSITIVE OR NEGATIVE

Negative test results :

• For most women who have amniocentesis, results of the procedure will be ' negative'. That is, their baby will bot have any disorders that were tested for.
• It is possible to have a negative result from amniocentesis but eh baby may still be born with the condition tested for or another chromosomal condition. This is because a normal test result does not exclude every chromosomal disorder.

Positive test results :

• If the test result is  'positive' it means the baby has the disorder that was being tested for. One should be aware that there is no cure for the majority of chromosomal conditions, so she needs to consider her options carefully.
• Options may include:-  1. CONTINUING WITH HER PREGNANCY WHILE GETTING INFORMATION & ADVICE ABOUT THE CONDITION SO SHE IS PREPARED FOR CARING FOR HER BABY. 2. ENDING HER PREGNANCY. 3. OPTIONS FOR ENDING HER PREGNANCY WILL DEPEND ON HOW MANY WEEKS PREGNANT SHE IS WHEN MAKING THE DECISION.

COMPLICATIONS OF AMNIOCENTESIS

• It is important to be aware of the possible complications durinf or after amniocentesis. These are outlined below.

• MISCARRIAGE - There is a small risk that amniocentesis an cause a miscarriage (the loss of the pregnancy). The risk is estimated to be around 1 in 100

• CLUB FOOT - Amniocentesis may cause club foot in your baby. This is when the baby is born with a deformed ankle and foot. However, the likelihood of this happening is higher if you have amniocentesis before week 15 of your pregnancy.

• RHESUS DISEASE- 1.Rhesus disease is a condition where proteins in a pregnant woma's blood attack her baby's blood cells.2. Rhesus disease is only possible if the mother's blood is rhesus-negative and the baby's blood is rhesus-positive. If this is the case, amniocentesis could trigger mrhesus disease if the mother's blood is exposed to the baby's blood during the procedure.

• INJURY FROM NEEDLE -1. During amniocentesis, the placenta( the organ that limks a pregnant woman's blood supply to her unborn baby's) may be punctured by the needle. Sometimes this is necessary to access theamniotic fluid. If this any more problems developing. 2. Ultrasound (where high frequency sound waves are used to create images) is now commonly used to guide the needle. This significantly reduces the risk of injury.

• INFECTION -  1. In very rare cases, an infection may developif the procedure introduces bacteria in the amniotic sac ( the sac surrounding the fetus that contains amniotic fluid). This can cause: A. A high temperature (fever) of 38 degree Celsius (100.4 degree Fahrenheit) or above tenderness of abdomen. B . Contractions (when your abdomen tightens then relaxes). C. One should seek medical attention if she has any of these symptoms. The risk of developing a serious infection from amniocentesis is estimated to be less than 1 in 1,000.   

CONCLUSION

• Amniocentesis is a safe procedure that can provide helpful information about the health of a fetus. It may be offered to woman who are at a higher risk of having a baby with a genetic disease. The risk of miscarriage of amniocentesis is about 0.5 % or 1 in 200.
• It is the patients decision whether the benefits of the procedure out weigh the risks.

AN AMNIOCENTESIS IS AN ACCURATE WAY OF TESTING FOR MOST CHROMOSOME PROBLEMS. HOWEVER THE CONDITION IN WHICH AN ORGANISM HAS TWO OR MORE CELL POPULATIONS THAT DIFFER IN GENETIC MAKEUP  AND VERY SMALL CHROMOSOME ABNORMALITIES CANNOT BE EXCLUDED. THE AMNIOCENTESIS ARE NOT ABLE TO DETECT ALL PROBLEMS WITH A BABY. HAVING AMNIOCENTESIS DOES NOT GUARANTEE THAT YOUR BABY WILL NOT HAVE A BIRTH DEFECT AS MOST ARE NOT CAUSED BY ABNORMALITIES OF THE CHROMOSOMES.

Thanks & Regards