Differences between screening tests and diagnostic tests for birth defects

The article was consulted professionally by Dr. Tran Thi Mai Huong – Obstetrician and Gynecologist – Obstetrics and Gynecology Department – Share99 Hai Phong International Health Hub

Pre-birth tests can help the pregnant woman know if the fetus actually has a certain disorder. Pre-birth screening tests and diagnostic tests are provided to all pregnant women.

1. Why do a birth defect test

Genes are a component of genetics, also known as DNA. Chromochromochroma is the internal structure of gene-bearing cells, arranged in pairs. Most cells have 23 pairs of chroma with a total of 46 chroma. According to genetics, half of the baby's genes will inherit the mother's death and one more will inherit from his father.

Genetic disorders can be caused by problems with chromosomes or genes. Most children with chroma disorder have physical defects and some have intellectual disabilities. Genetic disorders caused by defective genes in the parent's body will likely be passed on to the child. Defective genes can occur on any chromotype. A genetic disorder can be singular, sedular diving or sex-linked. Diagnostic testing for birth defects is intended to find defective genes that can affect a child's development.

There are 2 types of pre-maternity tests available to address concerns about genetic disorders that are screening tests that assess the risk that the baby will be born with a birth defect or specific genetic disorder. And diagnostic tests can detect if a specific birth defect or genetic disorder is present in the fetus. Some babies with birth defects are born to couples who do not have a risk factor. However, the risk of birth defects of the baby will be higher when there are certain factors. These tests are performed on cells from the fetus or placenta obtained through amniotic fluid sampling or spool velvet hair sampling.

Kidney function assessment test

Congenital malformation tests help detect pathology

2. What is a screening test?

Pre-birth screening tests are tests performed during pregnancy to assess the risk of the fetus having some common birth defects. Pre-birth screening tests cannot tell if the fetus actually has a birth defect. There is no risk to the fetus when screening tests are available.

Pre-birth screening tests are usually part of routine pre-birth care and are carried out at different times of pregnancy. Screening tests include blood tests and in combination with ultrasound tests.

A carrier test is a type of pre-birth screening test that can show if a person carries a gene that causes genetic disorders. This test is generally recommended for people with a family history of genetic disorders.

A positive screening test result for malformations means that the fetus is at higher risk for the disorder than usual. But that does not mean that the fetus is definitely disordered. A negative result means that the fetus is at lower risk of the disorder than the general normal. But it does not exclude the possibility that your fetus has a disorder. To confirm, we need to perform an additional diagnostic test.

With any type of test it is likely to give false positives and false negative results. The medical professional will provide the pregnant woman with information about the false positive and false negative rates for each test.

3. What is diagnostic testing?

Diagnostic tests to detect many birth defects caused by defects in genes or chromotypes.

Diagnostic tests for birth defects may be considered instead of screening tests if the spouse has a family history of birth defects or has had children with birth defects. Diagnostic tests are applied to all pregnant women, including those without risk factors. Some diagnostic tests may be risky for pregnant women.

Diagnostic tests may be recommended if screening test results show a risk of fetal malformations. Diagnostic testing is also offered as a first option for all pregnant women, even those without risk factors.

Why should rh-factor testing be tested during pregnancy?

Diagnostic tests for birth defects in pregnant women

Diagnostic tests for birth defects are carried out on fetal cells obtained through amniotic puncture, discdry fluffy sampling, or blood samples of the fetus can be taken. Chromotypes and genes in cells can then be analyzed using different techniques to diagnose certain genetic defects and many chromochromochromic defects. Diagnostic tests can carry risks such as an increased risk of pregnancy loss. It is advis recommended that before conducting screening tests, a healthcare professional or genetic advisor will discuss with the pregnant woman all the test options and help the pregnant woman make decisions based on individual risk factors.

Tests are carried out based on the choice of each individual. But if you know in advance that your child is at risk of genetic disorders, she will give the pregnant woman time to prepare and organize the medical care she may need, or may also consider the option of not continuing with her pregnancy.

At Share99 International Health Hub, there is a full maternity service as a solution to help pregnant mothers feel secure because there is a team of doctors throughout the pregnancy. When choosing a full-service maternity, a pregnant woman can:

  • The process of pregnancy is monitored by a team of specialists
  • Regular examination, early detection of abnormalities
  • Package maternity for the convenience of childbirth
  • Infants receive comprehensive care

For direct advice, please click hotline number or register online HERE. In addition, you can register for remote consultation HERE

Source reference: acog.org

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About: John Smith

b1ffdb54307529964874ff53a5c5de33?s=90&r=gI am the author of Share99.net. I had been working in Vinmec International General Hospital for over 10 years. I dedicate my passion on every post in this site.

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