Amniocentesis is a diagnostic test that allows to detect congenital malformations and other chromosomal abnormalities of the baby. Should only be performed from 15 weeks of gestation.
The amniocentesis test consists of an examination through which a sample is taken of amniotic fluid from the uterus and examined in the laboratory.
This examination is not performed routinely, because there is a risk to the baby. Amniocentesis is only recommended when there is any suspicion of problems in the development of the baby. Typically, only be performed from 15 weeks of pregnancy.
It consists of a diagnostic exam, that is, to diagnose with accuracy if the baby has a disease which the disease. Through it, we can detect hundreds of chromosomal abnormalities (like Down syndrome). In addition, it reveals with accuracy the sex of a baby.
WHAT ARE THE DISEASES THAT AMNIOCENTESIS DETECTS?
Through analysis of the amniotic fluid it is possible to diagnose genetic diseases or congenital malformations. This examination can detect the following pathologies:
- Chromosomal abnormalities (syndrome Down’s syndrome Edward’s syndrome Klinefelter syndrome Turner syndrome or Patau;
- Hereditary diseases in the blood (sickle cell anemia, thalassemia and hemophilia;
- Congenital disorders of the neural tube (spina bifida and anencephaly);
- Muscular dystrophy;
- Cystic fibrosis.
This examination can also reveal other information such as the sex of the baby, the presence of incompatibility Rh between mother and child and the presence of infection.
WHEN IT IS NECESSARY TO DO?
This examination is indicated by the doctor when it detects changes in the trace of the first quarter. Amniocentesis is usually performed after the 15th week of pregnancy. Should only be performed at this time, a time that, from the beginning of the second quarter, there are already a sufficient volume of amniotic fluid for the doctors to collect an adequate sample, comprising a lower risk for the baby.
There are some risk factors that may lead the doctor to suspect changes in the formation of the baby:
- A woman’s age greater than 35 years;
- Changes in the trace of the first quarter;
- Family history of genetic diseases;
- Conditions unsuitable for growth or intrauterine fetal.
The doctor may advise amniocentesis in the case of the woman:
- Having problems placentários, such as placenta previa (partial or total);
- Have a history of premature birth (before 34 weeks of pregnancy);
- Having a cervix is incompetent (the cervical tissue is weak, increasing the chance of a premature birth or an abortion).
HOW IS IT DONE?
Amniocentesis is a test simple and quick, taking on average a duration of 20 minutes.
This is done through the introduction of a needle 12.5 cm in the abdomen, to reach the uterine cavity. The pregnant woman remains lying down while the doctor tries to identify the location of the baby and the amniotic sac, through an examination echographic. After the insertion of the needle into the amniotic sac, the doctor collects a small amount of liquid (approximately 10 ml).
A introdução da agulha pode provocar um ligeiro desconforto, e depende muito da sensibilidade da mulher.
QUAIS SÃO OS RISCOS DA AMNIOCENTESE?
The completion of the amniocentesis carries various risks:
- Abortion: from the second quarter, carries a low risk of miscarriage – between 1 in 300 and 1 in 500;
- Injury with the needle: during the procedure the baby may move and be injured by the needle. However, rare are the serious injuries caused by the needle;
- Escape of the amniotic fluid: it may happen there is minor loss of fluid from the vagina. If the loss of liquid to last more than a week can cause orthopaedic problems in the baby;
- Awareness Rh: it Rarely happens that the child’s blood contact with the blood of the mother. However, if the mother is Rh-negative, you will be given an injection of immunoglobulin Hr after the completion of the amniocentesis;
- Infection: in rare cases, can cause infection in the uterus;
- Transmission of infection: if the mother has an infection, this can transmit to the baby.
THERE ARE SIGNS TO LOOK OUT FOR AFTER THE EXAM?
In addition to symptoms that may occur after the exam such as loss of fluid, bleeding and light cramping, it is advisable to seek the doctor in the following cases:
- Heavy bleeding;
- Great loss of fluid from the vagina;
- Uterine contractions;
- Abdominal pain or back;
- Fever (more than 38ºC);
- Chills and malaise.
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