Duele la amniocentesis: ¿Qué es una Amniocentesis? | Procedimiento, Costo & Riesgos

Duele la amniocentesis: ¿Qué es una Amniocentesis? | Procedimiento, Costo & Riesgos

¿Qué es una Amniocentesis? | Procedimiento, Costo & Riesgos

En esta sección

  • Atención Prenatal

  • ¿Qué sucede en las citas de atención prenatal?

  • ¿Qué son las pruebas prenatales?

  • ¿Qué es un ultrasonido?

  • ¿Qué es la muestra de vellosidad coriónica?

  • ¿Qué es la amniocentesis?

  • ¿Dónde puedo conseguir atención prenatal?

  • ¿Qué problemas pueden surgir durante el embarazo?

Una  prueba de amniocentesis es un procedimiento mediante el cual un médico toma una pequeña muestra de líquido amniótico del útero. Con esta prueba, se detectan algunas anomalías congénitas.

¿Qué es la amniocentesis?

En la amniocentesis, se examina el líquido amniótico, es decir, el líquido que rodea y protege al feto dentro del útero. Pueden analizarse las células del feto que flotan en el líquido para detectar anomalías cromosómicas, como el síndrome de Down. También se puede analizar el líquido para detectar anomalías del tubo neural, como espina bífida.

Los resultados de la prueba por lo general están listos en unas semanas. Tienen una exactitud de más del 99% para detectar anomalías cromosómicas, como el síndrome de Down. Además, esta prueba puede detectar casi todas las anomalías del tubo neural.

Por lo general, la amniocentesis se realiza entre las semanas 15 y 20 del embarazo.

Tu médico puede recomendarte la amniocentesis en los siguientes casos:

  • Tienes más de 35 años.
  • Tu reconocimiento o detección de marcador múltiple (análisis triple) muestra que es necesario hacer más pruebas.
  • Tienes antecedentes familiares que aumentan el riesgo de ciertas anomalías congénitas u otras afecciones.
  • Tuviste un hijo con una anomalía congénita importante.

La amniocentesis por lo general es segura e indolora. Sin embargo, existe un pequeño riesgo de aborto espontáneo después de una amniocentesis. Menos de una de cada 100 mujeres que se hacen esta prueba sufre un aborto espontáneo. Tú decides si quieres hacerte pruebas genéticas y cuáles.

¿Cómo se hace la amniocentesis?

La amniocentesis se lleva a cabo en el consultorio del médico. El médico inserta una aguja larga y fina a través del abdomen hasta llegar al útero y toma una pequeña muestra de líquido. El médico observa un ultrasonido para poder guiar la aguja.

La amniocentesis por lo general no duele. En la mayoría de los casos, se siente apenas una molestia o nada de dolor.

¿Cuánto cuesta una amniocentesis?

El costo de la amniocentesis depende de dónde te la hagas y si tienes seguro de salud. Muchos planes de seguros de salud cubren al menos una parte del costo, pero consulta con la compañía aseguradora para saber con certeza.

Si no tienes seguro de salud o tu plan no cubre la amniocentesis, tendrás que pagarla. En el consultorio del médico, pueden darte más información acerca del costo de esta prueba y qué tipo de planes de pago ofrecen.

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¿Amniocentesis duele? Descubre sus posibles riesgos y molestias

La amniocentesis es una prueba invasiva que se les realiza a algunas embarazadas con el fin de realizar análisis y tratamientos.Con ella es posible detectar anomalías en la salud del bebé. Esta prueba consiste en extraer una pequeña muestra del líquido amniótico que rodea al feto.

El análisis de dicha muestra permite diagnosticar si el bebé sufre: alteraciones cromosómicas (síndrome de Down, síndrome de Edwards y síndrome de Patau, entre otras), enfermedades genéticas como la fibrosis quística y otras patologías como la espina bífida. En el caso de polihidramnios (demasiado líquido amniótico) se realizaría para extraer el exceso de líquido.

 

¿Es una prueba dolorosa para la madre?

La prueba de la amniocentesis consiste, básicamente, en la introducción de una aguja muy fina, de 1 mm, hasta penetrar en el útero con el objeto de extraer entre 20 y 25 ml del líquido amniótico que rodea al bebé. A este proceso se le denomina punción y dura muy poco, apenas un par de minutos.

Pero en realidad la prueba en su totalidad es más larga, ya que previamente, durante unos 10 ó 15 minutos, se realizan pruebas ecográficas para determinar cuál es la mejor zona para realizar la punción.

Amniocentesis… ¿duele? Esta es, seguramente, la pregunta que se hacen muchas de las mujeres que van a someterse a esta prueba. Lo cierto es que normalmente se experimenta un cierto dolor, aunque leve, en el momento de la punción, así como molestias en la zona del abdomen al introducirla aguja en el útero.

Además de este dolor, que como hemos dicho es de baja intensidad, una vez finalizado el procedimiento la madre puede experimentar debido a la amniocentesis efectos secundarios, que incluyen:

  • Dolor abdominal.
  • Sangrado o pérdida de líquido amniótico.
  • Irritación alrededor del lugar de la punción.

 

El riesgo más importante de la amniocentesis es el de aborto

El riesgo más importante relacionado con esta prueba invasiva es que se produzca un aborto, algo que ocurre, aproximadamente, en un 1% de los casos. Las causas de dichos abortos son:

  • Infecciones en el bebé.
  • Daños en el saco amniótico al atravesar el útero con la aguja.
  • Punción fetal o del cordón umbilical durante la prueba.

También es posible la trasmisión de infecciones de la madre al feto, como por ejemplo el VIH o la hepatitis C. Por esta razón, la amniocentesis está contraindicada en caso de infecciones crónicas de la madre.

 

Los cuidados tras la amniocentesis

Una vez realizada la prueba, con el fin de minimizar el riego de aborto se recomienda guardar reposo de entre uno y dos días, evitando especialmente hacer movimientos bruscos.

Así mismo, debes ponerte en contacto urgente con el especialista si después de la amniocentesis notas algunos de estos síntomas:

  • Pérdida de líquido amniótico.
  • Sangrado abundante.
  • Fiebre(a partir de 38°C).

 

La salud de la futura mamá y del feto es lo más importante durante un embarazo, lo que hace necesario conocer y apostar por la tecnología y los métodos que tengan un menor riesgo, como es el caso del test prenatal no invasivo NACE. Aunque no es una prueba de diagnóstico sino de cribado, su altísimo nivel de fiabilidad evita el tener que realizar amniocentesis innecesarias, con los riesgos y molestias que toda prueba invasiva conlleva.

norm, study, analysis, determination — to be submitted to the laboratory DNAOM

An accompanying document is sent to the laboratory along with the biomaterial (a referral from a doctor indicating the patient’s data, clinical data, grounds for the study) — form No. 6.

Cytogenetic study (karyotype) of the amniotic fluid ) to detect serious hereditary diseases, malformations, genetic diseases and chromosomal abnormalities in a child.

Amniocentesis
During an amniocentesis, the doctor removes a small amount of amniotic fluid (amniotic fluid) using a long, thin needle inserted through the skin of the abdomen. The amniotic fluid obtained by amniocentesis is then sent to the laboratory.

Timing of amniocentesis
Amniocentesis is performed at the 16th week of pregnancy. Earlier dates (13–15 weeks) are also acceptable with careful observance of security measures. It is important to remember that during amniocentesis there is an invasion of the internal processes of growth and development of the unborn child. Therefore, amniocentesis is not recommended for every pregnant woman.

Cytogenetic examination (karyotype) of the amniotic fluid allows to detect a deviation in the number of chromosomes (aneuploidy), to diagnose Down syndrome (chromosome 21), and any excess or deficiency of whole chromosomes. The test also allows you to find rare additions or deficiencies in the chromosome.

Amniocentesis can detect the following diseases:

  • Hereditary diseases.
  • Malformations (heart defects, cleft lip, etc.).
  • Chromosomal disorders such as Down syndrome and Edwards syndrome.
  • Spina bifida.
  • Causes of early unexplained miscarriages.
  • Infections (toxoplasmosis, cytomegalovirus, rubella, bacterial infections).

Indications for amniocentesis
Since amniocentesis is an invasive procedure, it is prescribed strictly according to indications:

  • Detection of congenital and hereditary diseases (study of the karyotype of the obtained cells, determination of the number of chromosomes and their structure).
  • Adverse screening results (abnormalities in ultrasound, in the biochemical analysis of blood — «triple» or «double» test).
  • The need for the introduction of drugs into the fetal bladder for early termination of pregnancy.
  • Woman’s age (at 35 years of age or older, the risk of having a child with chromosomal abnormalities increases).
  • Amnioreduction (removal of excess amniotic fluid in case of polyhydramnios).
  • Fetal monitoring (determining the degree of maturity of the lungs, the production of surfactant (a substance that prevents the lungs from collapsing on a breath), the severity of fetal hemolytic disease).
  • Definition of intrauterine infections.
  • Fetotherapy (intra-amniotic administration of drugs for the treatment of the fetus).
  • Fetosurgery (treatment of the fetus by surgery).
  • Birth of a child with a history of hereditary pathology.
  • A burdened family history (the spouses have relatives with hereditary diseases or chromosomal abnormalities).

Contraindications
The procedure is contraindicated in the following situations:

  • Threatening placental abruption.
  • Possibility of termination of pregnancy (threat).
  • Malformations of the uterus.
  • Tumors of the muscular layer of the uterus.
  • Febrile state of a woman.
  • Inflammatory diseases in acute form or in the period of exacerbation.

Preparation
Before the procedure, a woman is assigned a routine laboratory examination (KLA, OAM, vaginal smear). In addition, a mandatory ultrasound is performed on the eve of the procedure to identify the localization of the placenta, the number of fetuses in multiple pregnancies, clarify the gestational age and the amount of amniotic fluid, and identify various anatomical features that can affect the conduct of amniocentesis. Also, before the manipulation, you should not take antiplatelet agents and anticoagulants for 5 days — drugs that thin the blood and reduce its coagulability (aspirin, chimes, heparin).

If amniotic fluid is collected before 20 weeks, the woman must come to the procedure with a full bladder. At 20 weeks or more, amniocentesis is performed with an empty bladder.

Before the procedure, the woman is informed about the procedure, possible risks, and is asked to sign a consent form for the amniocentesis.

Interpretation of results
The accuracy of the study of amniotic fluid and the diagnosis of congenital and hereditary diseases reaches 99%. After the amniotic fluid is obtained, it is delivered to the laboratory and fruit cells are isolated from it. These cells are planted on nutrient media to increase their number. Cytogenetic analysis of normal waters shows the content of 23 pairs of normal, without structural abnormalities of chromosomes.

The presence of such chromosomal diseases as Down syndrome, Edwards syndrome, Patau can be determined by the quantity and quality of chromosomes.

Identify/confirm neural tube malformations: anencephaly and spinal hernia.

Cytogenetic analysis of amniotic fluid reveals hereditary diseases (cystic fibrosis, sickle cell anemia), which are not normally present.

Fluid examination also reveals intrauterine infection (herpes, rubella).

Allows you to determine the group and Rh factor of the fetus and sex, which is important for predicting some hereditary diseases linked to the Y-chromosome or X-chromosome (for example, hemophilia).

To determine the severity of hemolytic disease of the fetus, and decide on the further tactics of pregnancy management.

In addition, in some cases (for example, severe gestosis, not amenable to therapy), it is necessary to determine the degree of maturation of the lungs of the unborn child, and decide on the issue of premature delivery.

The degree of lung maturation is estimated on the ratio of lecithin and sphingomyelin (biochemical analysis of water):

  • L / C is 1.5–1.9 / 1 — in half of the cases, the development of respiratory distress syndrome is possible;
  • L / S is 1.5 / 1 — in 73%, the development of respiratory distress syndrome is not excluded.
  • If abnormalities are detected, the doctors decide on the issue of further tactics of pregnancy management by a council.

    Genetic tests: how it works and when they are needed

    Any genetic analysis — deciphering human DNA and interpreting the results — consists of several stages. Genetic material is taken from cells: they used to work with blood, now laboratories are increasingly switching to non-invasive methods and isolating DNA from saliva.

    The isolated material is sequenced — using chemical reactions and analyzers, it is determined in what sequence the monomers are located in it: this is the genetic code. The resulting sequence is compared with the reference and looking for certain areas corresponding to certain genes. Based on the presence or absence of genes or their changes, a conclusion is made about the test result.

    Running a sequencer — a device that deciphers the DNA sequence — is very expensive due to the large number of chemicals needed. Many DNA samples can be deciphered in one run, but the more there are, the less reliable the result for each sample will be and the lower the accuracy of the genetic test. Therefore, you should contact a proven laboratory that will not save on the quality of the analysis by increasing the number of samples.

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    An important point to consider when obtaining the results of genetic analysis: genetics determines not everything that happens to our body. An equally significant role is played by lifestyle and environmental factors — the ecological situation, climate, the amount of sunlight and others.

    Unfortunately, Russian companies rarely mention this and limit themselves to listing the benefits of a genetic test. Many also play on the lack of education of patients and impose expensive unnecessary tests.

    Here are the main cases for which modern genetic analyzes are applied.

    First of all, genetics is designed to help in the treatment and prevention of diseases. There are three main groups of cases where genetic analysis will help clarify the diagnosis or prevent a possible disease.

    © Shutterstock

    Test for whom. For those who suspect they have a viral or bacterial infection. So, for example, borreliosis can be diagnosed with a tick bite — a disease with a wide range of symptoms.

    How it works. The DNA of disease-causing organisms is different from that of humans. A blood test is taken from the patient and it is determined whether there is foreign genetic material there.

    What is important to consider. These are relatively inexpensive tests, because it does not require deciphering the DNA itself, you just need to determine its presence or absence. Such a test will be more accurate than, for example, the search for antibodies (they appear in the blood only after the incubation period), but it is possible only if a specific disease is suspected.

    Who is the test for? As a rule, these are complex cases or chronic ailments, the cause of which is not obvious. Then doctors look for possible causes of the disease in the genes and, based on the results, they can more accurately diagnose and adjust the treatment.

    How it works. Genetic material can be obtained from any patient’s cells, including from material taken for other tests. After deciphering the DNA, damaged genes are searched for in the sequence. As a rule, this is not a blind search along the entire length, but a study of previously known areas.

    What is important to consider. Genetic diseases — those that occur due to mutations of just one gene — are quite few. About 92% of diseases whose cause can be found in DNA are multifactorial. This means that mutation is not the only cause of the disease, and adjusting other factors, such as diet or climate, can alleviate its course.

    Who is the test for? Physicians may recommend such an analysis to healthy people who have had repeated cases of various diseases among their relatives, such as, for example, most types of cancer, diabetes mellitus and coronary heart disease. That is, those same multifactorial hereditary diseases, which are also called «polygenic with a threshold effect.» Another similar analysis can reveal the likelihood of developing allergies, help adjust the diet depending on the genetic basis of metabolism and choose the optimal physical activity.

    How it works. In addition to mutations, doctors can also pay attention to gene variations — alleles. When checking predispositions to certain diseases, a specific section of DNA is analyzed. Comprehensive screening for a range of potential hereditary diseases can involve the entire genome.

    What is important to consider. These diseases are called «threshold effect» for a reason. This means that the disease will develop only after the body reaches the “threshold”. The task of prevention is precisely to prevent this from happening. That is, a positive test for predisposition to breast cancer does not mean at all that this will absolutely happen. Such a result rather serves as a recommendation to treat yourself more carefully, avoid risk factors and not neglect regular examinations by a mammologist.

    © Shutterstock

    When people want to have a baby, they willy-nilly think about its future health. Genetic tests can help at two stages — when planning a pregnancy and during its course.

    Who is the test for? Such a test will help to find out if the child will inherit «sleeping mutations» and the risks of congenital pathologies. This is important in case of frequent cases of some diseases in the family history of the father and / or mother, or in the actual presence of one of the parents of the disease.

    How it works. In essence, such tests do not differ from the detection of predispositions to diseases in adults, but they analyze two parental genomes simultaneously.

    What is important to consider. The complexity of the analysis lies in the fact that it is impossible to find out in advance which genes of the parents will go to the child, this is a kind of lottery. Genes always work not by themselves, but in combination, which makes the number of variations in the genome of the unborn child endless. That is, the test for the heredity of the planned offspring is always probabilistic, and even the presence of «bad» mutations in the parents does not make the birth of a healthy baby impossible.

    Who is the test for? This test is performed during pregnancy and is needed when congenital abnormalities are suspected. Also, prenatal genetic diagnosis can determine the sex of the unborn child at an early stage of pregnancy and establish paternity.

    How it works. For prenatal diagnosis, there are several methods of taking a sample of genetic material, the main of which are chorionic biopsy (taking a piece of embryonic tissue) and amniocentesis (taking a sample of amniotic fluid). Recently, the isolation of embryonic DNA from the mother’s blood has also been practiced — a non-invasive prenatal DNA test (NIPT). With in vitro fertilization, preimplantation diagnosis is also possible — DNA is isolated from the embryonic cell before it is introduced into the uterus.

    What is important to consider. Invasive methods are always a risk. So, the probability of spontaneous termination of pregnancy after a biopsy reaches 15%, and amniocentesis can lead to infection or detachment of the fetal membranes. Both of these methods become possible at a relatively late stage of pregnancy, when a fetal bladder and an embryo clearly visible on ultrasound are formed, so they should be resorted to only if there are serious suspicions of gene or chromosomal defects. Non-invasive diagnostics does not have such consequences, and it can be performed from the ninth week of pregnancy.

    © Shutterstock

    Who the test is for. It is not uncommon for genetic testing companies to also ask parents to identify their children’s predisposition to certain sports or other activities. Such a test can be useful for young athletes before starting a serious career: according to researchers, sports success is 60% determined by genes.

    How it works. The analysis itself is carried out in the same way as for the determination of hereditary diseases, only other sections of DNA are examined. To date, about 50 genes are known that are associated with a predisposition to various sports. It is more difficult with other human talents: for example, the partial genetic nature of absolute pitch has been established, but for the most part this direction is under study.

    What is important to consider. Despite the widespread belief that our genes prescribe certain talents and character traits for us, the genetic basis of the psyche is the most understudied area in human genetics. Not only diseases can be polygenic — this is the majority of signs in the body (for example, eye color is determined by 15 genes). Information taken out of context may turn out to be not only incomplete, but also false in principle: it is impossible to determine by one gene whether a child will become an outstanding athlete or not. What concerns intellectual abilities and character traits is still in the realm of assumptions. Finally, if the result of a genetic test “predicts” a child to succeed in some path, this can put psychological pressure on parents and prevent the child from deciding on his own plans for the future. Genes are a recommendation, not a direct indication.

    Who is the test for? Genealogical research grew out of forensic science and the popular task of establishing paternity. Today, with the help of genetics, both the definition of the closest relatives and the clarification of the ancestral group are available — from which part of the world the family originated many generations ago. Such an analysis serves to solve applied problems of establishing kinship (this is important for such legal issues as inheritance claims) and may be of interest to simply curious people who study family history.

    How it works. In the course of life, each person accumulates small changes in DNA — not only in the genes, but also in the «non-working» part (and the proportion of this in our cells is more than 90%). In genealogical genetic analysis, researchers compare the resulting DNA for similarities with others, either with the DNA of potential relatives or with a large database. Such databases can include both ancient DNA and the genetic material of the inhabitants of the country. Depending on the country and the genetic laboratory’s access to databases, the picture of the analysis may vary in completeness and detail.

    What is important to consider. Unlike previous analyzes where the patient’s DNA was compared with a reference, this is a comparison with other people’s genetic material. This procedure involves confidentiality issues and requires complex legislative regulation. In Iceland, a genetic database has been assembled, which contains the decoded DNA of all citizens and permanent residents (the corresponding law was adopted in 1997). In Russia, this practice is just beginning to appear, for the examination of kinship requires the consent of all participants and a complex legal procedure.

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