Maternal Screening Options

Some patients wish to find out if their baby has a detectible genetic disorder. Reasons vary and include preparing for a special needs baby, or helping to decide if they want to continue with a pregnancy. This is a personal decision for any pregnant woman.

Patients now have more options for maternal screening of genetic disorders and neural tube defects than have been offered in the past. It is a lot to consider – and timing is key. Accurate dating of a pregnancy is a factor in testing availability and also in the test results themselves.

Ultrasounds/Genetic Testing is optional and MAY NOT be covered by your insurance provider. We recommend you contact your insurance provider to verify coverage as every plan differs.

Screening Options

Non-Stress Test (NST)

A simple, noninvasive way of checking on your baby’s health status. This records your baby’s movements, heartbeat, and contracts. It is called a non-stress test because it doesn’t bother the baby at all. This test allows the providers to make sure the baby is getting enough oxygen and is healthy. Reasons to have an NST include high blood pressure, heart disease, if you are having a complicated pregnancy, or baby is moving less than normal, etc.

The screening tests will inform you if you are at INCREASED RISK for having a baby with a genetic disorder.

If the results show that your baby is at risk, you will be referred to The University of Iowa Hospitals and Clinics (UIHC), UnityPoint Cedar Rapids Maternal Fetal Medicine, or University of Wisconsin in Madison for further evaluation and testing. If you would choose not to follow up with diagnostic testing, then we recommend you decline the screening test and only do the fetal anomaly screening ultrasound (option #5).

1. First Trimester Screen

What is a First Trimester Screen?	The First Trimester Screen is a 4-step process. There are two ultrasounds and a blood draw.
Where is the test performed?	A combination of Dubuque and UIHC
When can the test be done?	The initial blood test and ultrasounds are done between 11 to 13 weeks gestation. This ultrasound is required to accurately date the pregnancy. This is done in our office. A second blood draw can be done between 15 to 20 weeks gestation to screen for neural tube defects such as spina bifida. A Nuchal Translucency ultrasound, or measuring the back of the baby’s neck, is scheduled after the dating has been confirmed.
When are the results available?	May take 1-2 weeks after each blood draw.
Are there risks associated with the test?	No.
Accuracy Rates?	Detects: 83% Down’s Syndrome 80% Trisomy 18 85% Neural tube defects
False Positive Rates?	5% False positive

2. Integrated Screen

What is an Integrated Screen?	An integrated screen is an evaluation of two blood samples and dating ultrasound to assess risk of genetic defects.
Where is the test performed?	May be done entirely in Dubuque.
When can the test be done?	The first blood draw is between 11-13 weeks, with a required ultrasound for dating prior. An optional ultrasound can be done between 11-13 weeks at UIHC for Nuchal Translucency. The second blood test is done between 15-20 weeks.
When are the results available?	The tests results are back 1 to 2 weeks after the second blood draw. No results are available until the second blood draw is back.
Are there risks associated with the test?	No.
Accuracy Rates?	Detects: 85% Down’s Syndrome 80% Trisomy 18 85% Neural tube defects
False Positive Rates?	2.6% False positive 1.9% False positive with Nuchal Translucency

3. Quad Screen

What is a Quad Screen?	Quad Screen is a single blood draw to assess risk of genetic defects.
Where is the test performed?	The blood draw is done locally.
When can the test be done?	The test is done between 15-20 weeks gestation after accurate pregnancy dating has been confirmed by ultrasound.
When are the results available?	1 to 2 weeks following blood draw.
Are there risks associated with the test?	No.
Accuracy Rates?	Detects: 81% Down’s Syndrome 80% Trisomy 18 85% Neural tube defects
False Positive Rates?	3.5% False positive

4. Cell-free Fetal DNA/NIPT (Panorama)

What is a Cell-free Fetal DNA/NIPT?	This is a blood test to assess for baby’s genetic material in mother’s bloodstream. Helps to detect Trisomy 13,18,21, Triploidy, Turner Syndrome, Sex Chromosome trisomies, microdeletions, sex of the baby (optional), if twins identical vs. fraternal, Angelman, Prader-Willi and Cri-du-chat Syndromes
Where is the test performed?	This is a blood draw performed locally.
When can the test be done?	Any time after 9 weeks gestation.
When are the results available?	Within one to two weeks after the blood draw.
Are there risks associated with the test?	No.
Accuracy Rates?	No fetal sex errors in validation studies >90% for trisomy 21 >50% for microdeletions 83 % 22q11.2 deletion sensitivity >99% for Down Syndrome
False Positive Rates?	0.05% False Positive

5. Fetal Anomaly Screen Ultrasound (Routinely ordered unless declined)

What is a Fetal Anomaly Screen Ultrasound?	This is an ultrasound to assess fetal anatomy.
Where is the test performed?	In our office.
When can the test be done?	Between 20-22 weeks gestation.
When are the results available?	The results are available after one of our physicians has formally reviewed the ultrasound –within one week of the scan.
Are there risks associated with the test?	No.

If you would like to have one of these tests done (other than the fetal anomaly screen), please contact our office as soon as possible so that we can get you scheduled appropriately. The nurse or midwife will be discussing this further with you at your New OB Interview. We hope this helps to explain the options that you have available. Please call 563-557-5959 and ask to speak to one of the nurses if you have questions or concerns.

Carrier Screening

1. Carrier Screening (Horizon)

What is a Carrier Screening?	This is a blood test to help determine a patient’s ability to pass on serious genetic conditions to their child. Available for both mother and father of the baby.
Where is the test performed?	This is a blood draw performed locally.
When can the test be done?	Anytime during pregnancy and also prior to conception.
When are the results available?	Within one to two weeks after the blood draw.
Are there risks associated with the test?	No.

Diagnostic Options

Two tests diagnose genetic disorders in a baby, while other options screen for a potential risk of genetic disorder. Both tests are invasive and carry risks not found in screening options. These are often the next step following a positive genetic screen. If you would consider terminating your pregnancy due to a genetic problem, we recommend one of the following diagnostic options:

1. Chorionic Villus Sampling (CVS)

What is CVS?	CVS is a procedure to evaluate a sample of the placenta. This is done with a needle through the cervix or through the abdomen and uterine wall. The sample is grown / cultured to determine the genetic make up of the fetus.
Where is the test performed?	The University of Iowa Hospitals and Clinics (UIHC)
When can the test be done?	Between 10 to12 weeks gestation
Is an ultrasound needed before procedure?	Yes. This is done at our office initially to determine accurate dating. An ultrasound is also done as part of the procedure at UIHC.
When are the results available?	May take up to 3 weeks.
Are there risks associated with the procedure?	Yes. Miscarriage. The doctor will discuss these more in detail before performing this procedure.

2. Amniocentesis

What is an amniocentesis?	An amniocentesis is guiding a needle through the abdomen and uterus to obtain a sample of amniotic fluid.
Where is the test performed?	UIHC
When can the test be done?	Between 15 to 20 weeks gestation.
Is an ultrasound needed before procedure?	Yes. This is done at our office initially to determine accurate dating. An ultrasound is also done as part of the procedure at UIHC.
When are the results available?	May take up to 3 weeks.
Are there risks associated with the test?	Yes. Primarily miscarriage and/or ruptured membranes. The doctor will discuss these more in detail before performing this procedure.