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Prenatal Diagnostic

Pregnancy is a time of great anticipation and sometimes anxiety. You may be concerned that your baby will have health problems. Although most babies are born healthy, it is important to know your options for details about your baby's health.


If a noninvasive prenatal screening test (NIPT) indicates a possible problem - or your age, family history or medical history puts you at increased risk of having a baby with a genetic problem - you might consider invasive prenatal diagnostic testing. A diagnostic test is the only way to be sure of a diagnosis. Some diagnostic tests, such as chorionic villus sampling and amniocentesis, carry a slight risk of miscarriage.


What are chromosomal disorders?

Chromosomes contain instructions for the body to develop and grow. If there is a change in the number, size or structure of your baby's chromosomes, it can affect his or her growth, development or the ability of body systems to function.

How do they develop?

Chromosomal abnormalities are usually spontaneous and occur when the egg or sperm are being formed during conception. However, sometimes chromosomal abnormalities are inherited from one or both parents.


The leading obstetrics and gynecology organization, the American College of Obstetricians and Gynecologists, recommends offering aneuploidy screening including noninvasive prenatal screening (NIPS) to all women, regardless of maternal age.

An option for every pregnancy

Diploid offers several types of prenatal diagnostic tests. Your physician may recommend one or more of these options depending on your personal situation.

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Rapid FISH analysis

Fluorescence in situ hybridization (also known as FISH) is a test that provides a quick answer as to how many copies of several specific chromosomes your baby has, including chromosomes 13, 18, 21, X and Y. This test is usually followed by a more comprehensive test, such as karyotyping or microarray analysis.

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Microarray analysis

Microarray analysis counts the number of chromosomes present and whether there are extra or fewer pieces. This test can also detect small changes (called microdeletions and microduplications).

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Karyotype analysis

This test examines your baby's overall chromosome structure to see if there are any abnormalities, such as extra or missing chromosomes. It can detect large chromosomal changes, but not microdeletions or microduplications.

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How do prenatal diagnostic tests work?

Your health care provider will collect a small sample of your developing baby's cells for chromosome analysis. Samples can be collected in two ways:


Chorionic villus sampling (CVS) is a first-trimester procedure that collects cells from the placenta using a thin plastic tube inserted through the cervix or a thin needle inserted into the belly (ultrasound is used to safely guide the needle).


Amniocentesis is a second trimester procedure that collects a small sample of amniotic fluid using a thin needle inserted into the womb (ultrasound is used to safely guide the needle).


After Diploid analyzes your sample, your healthcare provider will receive a report detailing your baby's chromosomal makeup. Discuss the results with your provider to understand the implications.

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What are the possible outcomes?

For most people, the tests provide a pleasant peace of mind, as they reveal that their baby does not have the conditions tested for.


If the results are positive, this confirms that your baby has a genetic condition. Your healthcare provider can help you understand if treatments are available, including special treatment immediately after birth to improve your baby's health, as well as any additional care your child may need. 

You don't have to solve everything alone

Diploid's genetic experts are available to guide you through the testing process, help you make sense of your results and plan the way forward.

Curious about the cost?

Genetic information is important for all pregnancies. That's why we have made our prenatal diagnostic tests more affordable than many other companies.

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Your privacy is very important to Diploide

We take privacy very seriously; one of our fundamental principles is that patients own and control their genetic data.

You can explore our privacy policy at any time to set your preferences and control the use of your data.

Want to learn about research opportunities related to your results? We'll tell you about it, don't you prefer? You can also

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