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Amniocentesis is a prenatal test in which a small sample of the amniotic fluid that surrounds the fetus inside the uterus of the future mother is extracted, to be analyzed. The prenatal test allows taking a sample of amniotic fluid of the bag that surrounds the fetus for further analysis.
The amniocentesis sample during pregnancy is removed by inserting a fine needle in the uterus through the abdomen: performed with the help of ultrasound images. It allows to carry out different tests. Fortunately, only 5 percent of amniocentesis performed detect that there is an abnormality in the fetus.
Although it cannot determine all birth defects, amniocentesis is helpful in detect any problems or abnormalities that can be produced in the fetus. Between them:
- Down's Syndrome
- Sickle cell anemia (sickle cell anemia)
- Cystic fibrosis
- Muscular dystrophy
- Tay-Sachs and similar diseases
- Some neural tube defects (diseases in which the brain and spinal cord do not develop well), such as spina bifida and anencephaly.
Amniocentesis is also the test with the greatest certainty to know the baby gender. Performed in the third trimester of pregnancy, it allows you to know if the baby's lungs are mature enough to advance delivery if necessary. It may also be indicated to assess a possible infection.
Ultrasound scans performed at the same time as amniocentesis can detect additional defects, such as cleft palate, cleft lip, clubfoot, or heart defects. Other birth defects are not detected by amniocentesis or prenatal ultrasound.
Often times, this test is done during the second trimester of pregnancy, that is, between the 15th and 18th week. It is especially recommended for pregnant women who have a higher risk of the future baby suffering from genetic or chromosomal congenital defects, or certain malformations. Amniocentesis it is advisable in the following cases:
1. In pregnancies of women over 35 years of age. The risk of having children with certain chromosomal birth defects increases with the age of the woman. The most common disorder in this case is Down syndrome (a series of physical and mental abnormalities caused by the presence of an extra chromosome). According to statistics, one in 1,250 children whose mothers have between 20 and 30 years are born with Down syndrome; one in 400 children when the mother is 35 years old; and one in 100 children when the mother reaches 40 years.
2. In female pregnancies who previously had a child with a congenital defect.
3. In pregnancies requiring diagnostic tests when blood tests detect lthe presence of alpha fetus protein (AFP) and other substances. A low concentration of this substance suggests a chromosomal abnormality (spina bifida, anencephaly). Amniocentesis, in these cases, serves to detect and confirm the diagnosis.
4. In pregnancies of couples with a family history that indicates that their children are at higher risk inheriting a genetic disorder. Amniocentesis is not recommended for all pregnant women due to a small risk of miscarriage. It should only be practiced under medical supervision and indication.
A pregnant woman's abdomen is disinfected with an iodine solution. Subsequently, the doctor, with the help of an ultrasound, introduces a thin hollow needle through the abdomen and uterus to remove a sample of the amniotic fluid. 15 to 30 ml are extracted. (a tablespoon or two) of the liquid, and the needle is removed.
The test takes just a few minutes. According to some women the test is painless. Others experience cramps, some loss of blood or amniotic fluid, so the doctor usually recommends resting the patient for several days after the test. After its extraction, the liquid is analyzed in the laboratory for one to two weeks. Results can usually be known in three to four weeks.
It is estimated that your reliability it is 99.4 percent. There is no prenatal test that can guarantee that a baby will be born one hundred percent healthy, since certain birth defects can only be diagnosed before delivery. Three or four out of every 100 children are born with a defect, although more than 95 percent of high-risk women who undergo a prenatal screening get the good news that their baby is free of disorders. The accuracy of amniocentesis in the diagnosis of chromosomal abnormalities (such as Down syndrome) is extremely high: between 99.4 and 100 percent.
- March of Dimes Birth Defects Foundation
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