What you need to know about:

Genetic Amniocentesis

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Overview of

Genetic Amniocentesis

in Thailand

A genetic amniocentesis, also called amniocentesis, is a diagnostic test carried out during pregnancy to assess chromosomal abnormalities like Down's Syndrome in the growing fetus.

The procedure is usually carried out between the 15th and 20th weeks of pregnancy. Amniocentesis done before the 15th week of pregnancy has been linked to an increased risk of complications.

Goals of

Genetic Amniocentesis

Genetic amniocentesis gives important information about the genetic makeup of the fetus.

Usually, genetic amniocentesis is carried out when the test result could have a substantial impact on the pregnancy’s management or if the individual wants the pregnancy terminated. It aids in the diagnosis of chromosomal abnormalities in the fetus by measuring the amount of Alpha-fetoprotein (AFP) in amniotic fluid.

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Genetic Amniocentesis

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Pros and cons of

Genetic Amniocentesis

Pros

  • Chromosomal abnormalities like Down syndrome can be detected early in the growing fetus
  • It helps to confirm the diagnosis of an abnormality found with another testing.

Cons

  • There is a risk of miscarriage associated with amniocentesis (1% or approximately, 1 in 1000 to 1 in 43,000)
  • It also carries a risk of infection both to the mother and the growing fetus. Other complications that may arise include miscarriage and premature birth but this rarely occurs.

How it works:

Genetic Amniocentesis

The procedure is usually carried out between the 15th and 20th weeks of pregnancy. Typically, it is a 20-45 mins procedure guided by an ultrasound image. A long thin needle that is inserted through the abdominal wall, is passed into the amniotic sac and a sample of amniotic fluid is taken for analysis.

The amniotic fluid is made up of cells that have been lost from the fetus’ skin, lungs, and urinary tract. The sample collected is then tested in the lab for specific fetal disorders like Down Syndrome, Turner syndrome, and Patau syndrome.

Preparation before

Genetic Amniocentesis

Pre - treatment

If amniocentesis is being done before the 20th week of pregnancy, then the bladder should be kept full before the procedure to make sure the uterus is well supported. If amniocentesis is being done after the 20th week of pregnancy, then the bladder should be empty before the procedure to minimize the risks of puncture.

The procedure is explained to the patient before the surgery, during which they will be asked to sign a consent form. The patient is advised to bring someone along or have someone drive them home afterward.

Recovery after

Genetic Amniocentesis

Post - treatment

Following amniocentesis, the health care provider continues to monitor the fetus' heart rate with the use of an ultrasound machine. There might be slight cramping and pelvic pain after amniocentesis.

The patient can go back to their daily activity following the examination but strenuous exercise and sexual intercourse should be avoided for about one to two days. Some results may be available within a few days, while others may take up to four weeks.

Risks & side effects

There are various risks associated with amniocentesis, one of which is the leakage of amniotic fluid through the vagina. The amount of fluid lost, however, is usually minute and stops within a week.

If the test is done in the second trimester of pregnancy, there is a slight risk of miscarriage (0.1 to 0.3 % ). Studies have shown that amniocentesis carried out before the 15th week of pregnancy increases the risk of losing the baby. There is also a risk of needle injury to the fetus if the baby moves into the path of the needle, however, this is very rare.

Rhesus sensitization, although rare, can also occur. This is a situation whereby the mother who is Rh-negative is pregnant with a fetus who has Rh-positive blood. Depending on the doctor’s diagnosis and patient’s blood test results, a Rh immune globulin injection may be given post-amniocentesis so that the mother’s body will not produce Rh antibodies that can cross the placenta and damage the baby’s red blood cells.

Although rare, amniocentesis can give rise to a uterine infection. Also, infections such as hepatitis C, HIV/AIDS, or toxoplasmosis can be transferred from the mother to the baby during the procedure.

FAQs:

Genetic Amniocentesis

Who is offered genetic amniocentesis?

  • A woman who will clock 35 years or older at the time of delivery.
  • History of chromosomal abnormality in the family.
  • To confirm an unsatisfactory result of an investigation such as NIPT (non-invasive prenatal test) in a pregnant woman. NIPT also known as NIPS (non-invasive prenatal screening) is a method used to ascertain the possibility that a fetus will be born with certain genetic abnormalities, such as the Down syndrome. This test can be done as early as 10 weeks of gestation.
  • When the father or the mother has an abnormal chromosomal rearrangement, for instance translocation or an inversion.
  • A couple with a high probability of having a kid with a hereditary genetic condition.
  • A couple with a child with a neural tube defect, for example: anencephaly or spina bifida.
  • Any woman who is aged 35 or above is advised to seek consultation with the managing obstetrician for alternative screening tests that will detect chromosomal abnormality — if the baby is due and the mother doesn't want an amniocentesis. This method can only detect specific anomalies, such as Down syndrome. If there are any irregularities in the screening test, an amniocentesis is recommended next, so that the doctor can make a definitive diagnosis of the problem.

Why might I need a genetic amniocentesis?

Genetic amniocentesis is considered if;

1.   The diagnosis of a prenatal test result that was positive or of concern to the patient and the doctor wants to seek a confirmation.

2.   Positive history of a chromosomal condition or neural tube defect in a previous pregnancy. Taking the test helps to confirm or rule out these disorders.

3.   A woman above the age of 35 years old is pregnant. In general, children born to older women have a higher probability of inheriting a chromosomal anomaly.

4.   In the mother’s family or the partner’s family, there has been a known history of a genetic disease.

5.   To exclude or diagnose genetic conditions associated with irregular ultrasound findings, amniocentesis might be recommended by the managing physician.

Amniocentesis can be used to detect a range of genetic diseases like cystic fibrosis and fragile X syndrome apart from detecting chromosomal abnormalities like Down syndrome or Neural tube defects like spina bifida.



What is amniotic fluid?

Amniotic fluid is a clear liquid that surrounds and protects the growing baby inside the amniotic sac. The amniotic sac is a sac in which the developing fetus grows. The amniotic fluid resembles water but it contains some of the baby's cells. These cells are being shed by the baby as he or she grows. These cells provide information about the genes as well as other pertinent information about the state of health of the developing fetus before birth.

What can an amniocentesis test detect?

Amniocentesis can detect;

1.   Genetic diseases like Down syndrome, Tay-Sachs disease, etc.

2.   Neural tube defects like spina bifida

3.   It can also evaluate the state of health of the baby's lungs and so early detection of any respiratory anomaly is picked to know if early birth should be arranged to protect the health of the mother and the baby.

4.   Other health concerns, like Rh disease.

In some situations, amniocentesis can function as a treatment for polyhydramnios, in which the excess amniotic fluid surrounding the fetus can be removed to prevent it from negatively affecting the baby's heathy growth.

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