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Prenatal Screening Guide For Physicians

This decision making guide will help providers navigate options available for prenatal screening that will be most appropriate for their patients. The screening options provided are blood tests that present low risk for both mother and fetus. All screening tests are completely optional for the patient, but screening may allow for more informed decision making and preparation for the arrival of their baby.

Please feel free to direct your low risk patients to the prenatal screening information here »

The Central Washington Genetics Program suggests you think of your patients as in one of two categories: Low risk or High risk. Routine patients are low risk and below is suggested scripting for you to use in counseling those patients and arranging screening, if they wish to proceed, in your clinic. A patient with a concern of any kind: abnormal ultrasound, positive result on screening, family history of something, previous pregnancy/child with something, etc, should be considered high risk and referred to genetics to assure appropriate risk assessment and testing.

Scripting for Routine Low Risk Pregnancies

In any pregnancy, there is a 3-5 % risk for some type of birth defect. At this point, we don't have information to believe you are higher risk than that, so I would like to offer you routine screening.

Screening means to look for certain birth defects that can happen to anyone. We don't feel there is a high risk for any of these in you, but it is routine to offer screening. It is your choice to have a screening test or not.

These screening tests that look for birth defects are blood tests. I will explain about some of them, but if you feel you have a high risk for a child with birth defects, or wish more detailed information, I can refer you to Prenatal Genetics where it is their job to explain all your choices and answer your questions to help you make the best decision. It is always your choice which test, if any, to have.

The reason to have prenatal screening tests is to provide you with more information. Negative results may be reassuring to you. Positive results may allow you to prepare for a child with special needs and they allow your doctor to develop the best plan for following you during the pregnancy or making special arrangements at the time of delivery.

If you are a "low risk" patient, with no special concerns or family history of concern, it is most likely your provider can do one of the following tests. If however, you are "high risk", which just means there is something different about your personal or family history, then it is best to seek genetic counseling to assure you have complete and correct information about the concern and all of your options. Screening tests for low risk women are listed below:

If Prior to Thirteen Weeks, Six Days Gestational Age

The easiest screening for low risk women is serum integrated screening. This involves two blood tests done here at the clinic to estimate the risk for Down syndrome, trisomy 18 and spina bifida.

A new screening, cell free DNA analysis, was developed for high risk women. It is better at looking for chromosome abnormalities, but since you are not high risk I don't know if your insurance will pay. It is just one blood draw and can be done here at the clinic, but then you would need another blood draw to look for spina bifida.

If Fourteen Weeks, plus

The easiest screening for low risk women is quad screening. This involves a single blood draw done here at the clinic to estimate risk for Down syndrome, trisomy 18 and open neural tube defects.

A new screening, cell free DNA analysis, was developed for high risk women. It is better at looking for chromosome abnormalities, but since you are not high risk I don't know if your insurance will pay. It is just one blood draw and can be done here at the clinic, but then you would need another blood draw to look for spina bifida.

Scripting for Routine High Risk Pregnancies in Women of Advanced Maternal Age

In any pregnancy, there is a 3-5% risk for some type of birth defect. At this point, we know you are at a higher risk than that, so we would like to offer you specialized screening.

Screening means to look for certain birth defects that can happen to anyone. You are at a higher risk than average to have a child with a chromosomal abnormality due to your age.

Screening tests that look for birth defects are blood tests. I will explain about some of them, but if you wish to have more detailed information, I can refer you to prenatal genetics where it is their job to explain all of your choices and answer your questions to help you make the best decision. It is always your choice which test, if any, to have.

The reason to do prenatal screening tests is to provide you with more information. Negative results may be reassuring to you. Positive results may allow you to prepare for a child with special needs, and they allow your doctor to develop the best plan for following you during the pregnancy or making special arrangements at the time of delivery.

The best screening for women at risk for fetal chromosome problems (like Down syndrome) is cell free DNA analysis. It is just one blood draw and can be done here at the clinic.

We would then offer you a second blood test, also done here at the clinic, to estimate the risk for spina bifida. Spina bifida is when the baby's back does not form correctly.

If your result on either one of these is positive, we will refer you to genetics for further discussion and information.

Script for High Risk Pregnancies in Women, Other than Advanced Maternal Age

In any pregnancy, there is a 3-5% risk for some type of birth defect.

Screening means to look for certain birth defects that can happen to anyone. You may be at a higher risk than average to have a child with birth defects because of your history.

Because you may be at a higher risk, I am going to refer you to prenatal genetics where it is their job to determine if you are at high risk and to explain all of your choices and answer your questions to help you make the best decision. It is your choice which test, if any, to have.

The reason to do prenatal screening tests is to provide you with more information. Negative results may be reassuring to you. Positive results may allow you to prepare for a child with special needs, and they allow your doctor to develop the best plan for following you during the pregnancy or making special arrangements at the time of delivery.