What Do They Do For Genetic Testing During Pregnancy

What is genetic testing during pregnancy?

Genetic testing during pregnancy is a procedure designed to assess the DNA of a mother, her fetus, or both. It is important to understand the distinction between genetic testing and prenatal screening. Prenatal screening is a process which is used to determine the likelihood that a fetus will have certain chromosomal or genetic abnormalities, such as Down syndrome. Genetic testing however is specifically aimed at identifying a specific mutation or gene change that may lead to a diagnosed genetic condition.

Why is genetic testing during pregnancy important?

Genetic testing during pregnancy is important for identifying potential genetic conditions or abnormalities that could be passed from parent to child. Such conditions can range from mild to severe and may affect physical, mental, or emotional health. By understanding the potential risks associated with certain inherited conditions, healthcare professionals can recommend early interventions and treatments.

Types of Genetic Testing During Pregnancy

  • Chorionic villus sampling (CVS): This type of test involves the removal of small samples of placental tissue to analyze the fetus’ DNA. This type of test is generally carried out around 11-13 weeks of pregnancy.
  • Amniocentesis: This type of test involves the removal of a small sample of fluid from the amniotic sac. The fluid contains fetal cells that can be examined to analyze the fetus’ DNA.
  • Non-invasive prenatal testing (NIPT): This type of test is generally used when a screening test, such as an ultrasound, suggests the presence of a possible abnormality. It involves analyzing fetal cells that are present in the mother’s blood. This type of test is generally carried out between 10-13 weeks of pregnancy.

What information can genetic testing during pregnancy provide?

Results obtained from genetic tests during pregnancy can provide a range of information:

  • Information about a potential genetic disorder or impairment
  • The fetus’ chromosomal makeup
  • Information about the baby’s sex
  • The presence of any inherited genetic traits or conditions
  • The potential for inherited conditions to manifest later in life

What are the risks associated with genetic testing during pregnancy?

The risks associated with genetic testing during pregnancy include:

  • Miscarriage – in rare circumstances, some types of genetic testing can result in a miscarriage
  • Infection – inserting a needle into the amniotic fluid or the mother’s womb can carry a small risk of introducing an infection
  • False positives – there is a small chance that the results of a genetic test can incorrectly suggest the presence of a genetic abnormality when, in fact, none exists.


Genetic testing during pregnancy is an important tool for detecting potential genetic disorders, chromosomal abnormalities and inherited conditions. However, it is important to weigh up the risks associated with the procedure against the potential benefits of knowing the results. Discussing the potential risks and benefits with your healthcare provider can help you make an informed decision about whether to proceed with genetic testing.

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