Testing Basics

Most babies are born healthy, but some may come into the world with health problems. These conditions can develop for a variety of reasons, ranging from genetic factors to complications during pregnancy or birth. While advances in prenatal care and testing can sometimes identify certain issues before delivery, not all health problems can be detected in advance. As a result, some conditions are only discovered after a baby is born.

Chromosomal conditions are one cause of health problems.

Chromosomes are structures found inside our body’s cells that are made of DNA and carry all of our genetic information. Typically, people are born with 23 pairs of chromosomes, for a total of 46. However, when there is an extra or missing chromosome, it can lead to certain common chromosomal conditions.

Chromosomal conditions most often occur by chance

Chromosomes carry our genetic information. Chromosomal conditions, like Down syndrome, caused by an extra or missing copy of a chromosome, do not usually run in families. They are not caused by anything a pregnant woman does or does not do before or during pregnancy.

Some things, such as a woman’s age, may increase the chance of having a pregnancy with a chromosomal condition. If a woman has already had a screening test for chromosomal conditions in her current pregnancy, her chances may be higher or lower.

Some pregnancies with a chromosomal condition end in pregnancy loss (miscarriage or stillbirth).

Some of the more common chromosomal conditions are:

  • Down syndrome (trisomy 21) is caused by an extra copy of chromosome 21.
  • Edward syndrome (trisomy 18) is caused by an extra copy of chromosome 18.
  • Patau syndrome (trisomy 13) is caused by an extra copy of chromosome 13.
  • Sex chromosome conditions are caused by an extra or missing copy of a sex chromosome (X or Y).

It is possible to find out about some chromosomal conditions before your baby is born.

There is no single test that can guarantee a healthy baby, but there are testing options available during pregnancy for some common chromosomal conditions. This app provides information about those testing and screening options, and it can be especially helpful for women who are considering noninvasive prenatal testing (NIPT). In addition, your health specialist may recommend further testing for other types of conditions, depending on your individual situation.

Testing is voluntary

  • Testing or screening for chromosomal conditions is your choice.
  • You may choose to have testing during your pregnancy or you may decline all testing options.
  • The results of testing may help you and your family plan, prepare, and discuss options for pregnancy management with your health specialist.
  • This app can help you prepare to talk with your health specialist about which option is right for you.
  • NIPT is a screening test. As with any laboratory test, false positive and false negative results may occur. NIPT results should be confirmed by diagnostic testing prior to making any pregnancy management decision.
  • Diagnosing a chromosomal condition in the pregnancy may allow you to:
    - Prepare for a child with a chromosomal condition by changing your delivery plans and meeting with multiple medical specialists before delivery
    -Consider adoption, or
    -Consider ending the pregnancy.
  • The decision to pursue any of these options is very personal. Only you and your partner can determine what is right for you.

Maternal Age Tool

Choose your age (or age of egg donor):

The chance of Down syndrome in a pregnancy at this age is: 13 out of 10,000. This means that of 10,000 women at this age, about 13 will have a pregnancy with Down syndrome and about 9987 will have a pregnancy without Down syndrome.

The chance of Down syndrome in a pregnancy at this age is: 16 out of 10,000. This means that of 10,000 women at this age, about 16 will have a pregnancy with Down syndrome and about 9984 will have a pregnancy without Down syndrome.

The chance of Down syndrome in a pregnancy at this age is: 29 out of 10,000. This means that of 10,000 women at this age, about 29 will have a pregnancy with Down syndrome and about 9971 will have a pregnancy without Down syndrome.

The chance of Down syndrome in a pregnancy at this age is: 83 out of 10,000. This means that of 10,000 women at this age, about 83 will have a pregnancy with Down syndrome and about 9917 will have a pregnancy without Down syndrome.

The chance of Down syndrome in a pregnancy at this age is: 322 out of 10,000. This means that of 10,000 women at this age, about 322 will have a pregnancy with Down syndrome and about 9678 will have a pregnancy without Down syndrome.

Please note: This indicates the age-related chance for Down syndrome at 10 weeks gestation. The chance for other chromosomal conditions is in addition to this chance. The chance for a chromosomal condition in your pregnancy may vary based on your family history, clinical history, and any previous screening results. Please speak to your health specialist for your specific chances.

Still have questions about NIPT?

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