Pregnancy 101

Pregnancy 101

Prenatal Screening Tests

The field of prenatal screening has rapidly evolved over the last few years, and will likely continue to change in the future. There are many different types of screening tests available during pregnancy. It is important to know that screening tests will only tell you about the chance of a medical condition. Screening tests will not give you a ‘yes’ or ‘no’ answer. It is also important to know that prenatal screening tests are always optional. You never have to undergo any prenatal testing if you do not wish to. Anyone who is having prenatal testing should have access to all of the necessary information to make an informed decision about what is right for them and their family.

Prenatal Diagnostic Tests

Prenatal diagnostic tests are tests that are able, in most cases, to give you a definitive ‘yes’ or ‘no’ answer about whether a pregnancy is affected with a variety of chromosome and genetic conditions. While these tests are able to provide a lot of definitive information, there is a risk for miscarriage. The level of risk depends on which test is being done and the level of experience of the doctor performing the procedure. For tests that can still provide some information, but carry no risk for miscarriage, see Prenatal Screening Tests. It is also important to know that prenatal diagnostic tests are always optional. You never have to undergo any prenatal testing if you do not wish to. Anyone who is having prenatal testing should have access to all of the necessary information to make an informed decision about what is right for them and their family.

Prenatal Carrier Screening Tests

The field of prenatal screening has rapidly evolved over the last few years, and will likely continue to change in the future. There are many different types of screening tests available during pregnancy. It is important to know that screening tests will only tell you about the chance of a medical condition. Screening tests will not give you a ‘yes’ or ‘no’ answer. It is also important to know that prenatal screening tests are always optional. You never have to undergo any prenatal testing if you do not wish to. Anyone who is having prenatal testing should have access to all of the necessary information to make an informed decision about what is right for them and their family.

Common Prenatal Conditions

The amount of genetic and chromosome conditions that can be tested for in pregnancy is constantly evolving. One group of conditions is Sex Chromosome Variations that result when a baby has a different number of sex chromosomes, also known as X & Y chromosomes, then we would expect to see in some or all of the cells in their body. A secondary condition group called Microdeletion Syndromes occurs when a small area of a chromosome (which is made up of our DNA) is deleted or missing.

Common Developmental Evaluations

When a baby or child begins showing signs of differences from their family background or their peers, their primary care provider may refer them for a developmental assessment. A genetics evaluation involves review of the child’s medical and family history, and detailed physical examination. Based on the review, genetic testing may be recommended. The results that come from genetic testing may provide your family with helpful information.

Receiving a Prenatal Diagnosis

People have very different reactions to receiving a prenatal diagnosis. For some, it represents a chance to know that they will have a child with some special needs ahead of time, allowing them to prepare. For others, they may not feel they are able to care for a child with special needs, and would choose to look into adoption after the baby is born. Others may choose to terminate/abort a pregnancy. This is a very personal and sometimes difficult decision, and is often unexpected. It is important to have access to all of the appropriate information, as well as have the option to discuss these options further with a healthcare provider. Learn more about the various options.

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