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5000 Higbee Ave NW
Canton, OH 44718

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Screening Options for Genetic Tests

Option #1 Sequential Screening

Sequential Screen is a screening test which shows if you are at increased risk of having a baby with Down syndrome, Trisomy 18, or an open neural tube defect.  It is a noninvasive test performed in two steps.   This test is done at Maternal Fetal Medicine.  You would receive an early preliminary result in the first trimester, and a final result in the second trimester.  Sequential Screen leads to detection of approximately 90% of Down syndrome and Trisomy 18 cases and 80% of open neural tube defects.  If the screening test is abnormal, it does not necessarily mean that the baby has one of these birth defects.  If you have a “positive” screen you will be offered further testing.  This typically includes a very targeted ultrasound and the possibility of Chorionic villi sampling (CVS)* or Amniocentesis*.  A “negative” result does not guarantee the birth of a healthy baby.

How it is done:

Between 11-13 weeks of your pregnancy, a blood sample and ultrasound measurement, called nuchal translucency*, will be taken.  If you are not identified to be at increased risk during the first part of the test, you will come back in at 16 weeks for a second blood test. You will receive preliminary results after the first part of the test and final results after part two.

Option#2 Serum Integrated Screen

The Serum Integrated screen is an optional screening test offered during pregnancy.  which shows if you are at increased risk of having a baby with Down syndrome, Trisomy 18, or an open neural tube defect.  It is a noninvasive blood test performed in two steps.  This screen leads to detection of approximately 90% of Down syndrome and Trisomy 18 cases and 80% of open neural tube defects.  If the screening test is abnormal, it does not mean that the baby has one of these birth defects.  If you have a “positive” screen you will be offered further testing.  This typically includes a very targeted ultrasound and the possibility of Amniocentesis.  A “negative” result does not guarantee the birth of a healthy baby.

How it is done:

A blood sample is obtained between the 9-13 week of pregnancy and again in the 16-20th week of pregnancy.  A calculation is made based on certain medical information and this blood work.

 

Option#3 Quad Screen

The Quad screen is an optional screening test offered around 16 weeks of pregnancy.  The test screens primarily for open neural tube defects, Down syndrome, and Trisomy 18.  The Quad screen offers about 75-80% detection rate.  If the screening test is abnormal, it does not necessarily mean that the baby has one of these birth defects.  If you have a “positive” screen you will be offered further testing.  This typically includes a very targeted ultrasound and the possibility of Amniocentesis.  A “negative” result does not guarantee the birth of a healthy baby.

How it is done:

A blood sample is obtained between the 16-20th week of pregnancy.  A calculation is made based on certain medical information and this blood work.

 

Option#4 MaterniT21plus

The MaterniT21plus is an optional screening test offered any time after 10  weeks of pregnancy.  This screen tests for Trisomy 21 (Down’s syndrome), Trisomy 18, and Trisomy 13.  The tests looks for an increased amount of these chromosomes circulating in mom’s blood. This test can be done as primary screen or after a positive serum screen test. It is considered 96-99% accurate.

How it is done:

A blood sample is obtained after the 10th week of pregnancy.  Maternal blood is screened for increased levels of chromosomes 21,18, and 13. Results are reported as positive or negative.

 

Option #4  Alphafetoprotein (AFP) Blood Test

The AFP blood test screens for open neural tube defects only.  The two main types of defects are Spina Bifida and anencephaly.  Babies with anencephaly usually will die at birth or shortly afterward.  Spina Bifida results in a spinal column defect and may range from mild to severe.  Mild defects can be corrected with surgery.

How it is done:

A blood sample is obtained between the 16-20th week of pregnancy.  A calculation is made based on certain medical information and this blood work.

 

Option #5 Amniocentesis

Amniocentesis is a prenatal test to help learn if the fetus has certain birth defects or health problems. This test is performed between 15 and 18 weeks of pregnancy. It studies the amniotic fluid that surrounds the fetus and the chromosomes from the fetus that are contained in the fluid. Chromosomes can show genetic problems such as Down Syndrome, Trisomy 18,  or other problems fetus may have with spine, lungs, or other areas of the body. This test can be performed if the fetus has a higher than normal chance of having a health problems. Sometimes this test is used to confirm results of other tests. This test is about 96-99% accurate. The risks of miscarriage are about 0.5 % above the naturally occurring miscarriage rate.

How it is done:

Under ultrasound guidance, a thin needle is inserted into the belly and a sample of amniotic fluid is removed. This is done between week 15 to 18 of pregnancy. Results usually take about 2 weeks.

Option #6 Chorionic Villus Sampling (CVS)

Chorionic Villus Sampling (CVS)  is a prenatal test to help identify chromosomal disorders and other genetic diseases before a baby is born. This test is performed between 8th and 12th weeks of pregnancy. It studies a tiny sample of tissue called chorionic villi and the chromosomes from the fetus that are contained in tissue. Chromosomes can show genetic problems such as Down Syndrome and other genetic diseases. This test can be performed if the fetus has a higher than normal chance of having a health problems or there is a family history of a known or suspected genetic disorder.  This test is about 99% accurate. Risks of miscarriage are about 1% above the naturally occurring miscarriage rate.

How it is done:

Under ultrasound guidance, a small catheter is inserted into the vagina and through the cervix or a needle is inserted through the abdomen to the newly developing placenta. A sample of this tissue is obtained through the catheter with a syringe. This is done between the 8th and 12th week of pregnancy. Results usually take about 2 weeks.

Option #7  Decline all Optional screening tests.

Some families choose to decline all genetic screening.  Choosing or declining screening is a very personal matter to which there is no right or wrong answer.  Your decision may depend on religious beliefs, level of anxiety, or course of action that would be taken with abnormal screening results.

*For persons electing to have CVS or Amniocentesis it is recommended that genetic counseling be conducted prior to testing

Your opinion

We welcome your comments and suggestions at any time. We will be glad to answer any questions.

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