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Prenatal Screening Program

Woman looking at pregnancy test in her hand

Summary of California Prenatal Screening Tests

During your pregnancy, your prenatal care provider should offer you two prenatal screenings as part of the California Prenatal Screening Program. Each screening requires you to give a blood sample. Each screening estimates the chances of your fetus having one of the genetic conditions or birth defects screened for in the Prenatal Screening Program. 

Below are the details about the two types of prenatal screening offered by the state program. See also program resources at the bottom of the page.

Cell-free DNA (cfDNA)Screening

What it screens for:  Genetic conditions

Cell-free DNA (cfDNA) screening of your blood sample uses genetic information from the placenta to check the fetus for the chances of it having  the genetic conditions below. The placenta is the organ inside a pregnant individual that provides nutrients and oxygen to the fetus.

  • Trisomy 21 (Down syndrome)
  • Trisomy 18 (Edwards syndrome)
  • Trisomy 13 (Patau syndrome)
Starting April 1, 2024, the CA PNS Program will add sex chromosome aneuploidies (SCAs) ā€“ also referred to as X and Y chromosome variations ā€“ to the state cell-free DNA screening panel.ā€‹ā€‹

  • ā€‹Turner syndrome
  • Klinefelter syndrome
  • Trisomy X
  • XYYā€‹

When to get it: cfDNA screening is recommended from 10 weeks to the first day of 21 weeks of pregnancy. The screening can be done after  the first day of 21 weeks of pregnancy but the follow-up services are then more limited. Screening results are available in 10 to 14 days.

Maternal serum alpha-fetoprotein (MSAFP) screening

What it screens for: Neural tube defects

Maternal serum alpha-fetoprotein (MSAFP) screening of your blood sample looks at the protein made by the developing fetus. The amount of the protein may show whether the fetus has a birth defect called a neural tube defect. The most common types of these defects are:

  • Open spina bifida (opening in the spine)
  • Anencephaly (missing parts of brain or skull)

When to get it: MSAFP can be done from 15 weeks to the first day of 21 weeks of pregnancy. Screening results are available in 7 to 10 days.

After Prenatal Screening

Most pregnancies result in a healthy baby. But 3 or 4 out of 100 fetuses may have a genetic condition or birth defect.

If prenatal screening finds no increased chance of your fetus having one of the genetic conditions or birth defects screened for, no further services will be offered by your prenatal care provider from the state program.ā€‹

If prenatal screening finds an increased chance of your fetus having one of the genetic conditions or birth defects screened for, your prenatal care provider should offer you the option of getting genetic counseling, an ultrasound exam, and diagnostic testing to learn more about whether your fetus has the birth defect. Diagnostic testing includes chorionic villus sampling (CVS) and amniocentesis.

When you get prenatal screening through the state program, the follow-up services are provided at a state-approved Prenatal Diagnosis Center at no additional cost. You decide if you want any of the follow-up services.

Genetic counseling 

Genetic counseling ā€‹is the first service provided at a stateapproved Prenatal Diagnosis Center. A genetic counselor discusses your screening result and what it means. You will also review your familyā€™s health history. The genetic counselor will give you information about the other follow-up services available to you. The counselor will explain that you have several options that include ultrasound and chorionic villus sampling or amniocentesis. Be sure to ask the genetic counselor any questions you may have. You decide if you want any services after genetic counseling.

Ultrasound (sonogram) 

Doctors with special training can do a high-level ultrasound, in general starting from 12 weeks of pregnancy. It gives a very detailed picture of the fetus. 

An ultrasound checks the age of the fetus. It may identify some birth defects. However, it is not a way to find out for certain if your fetus does have a genetic condition. 

You can have this ultrasound even if you decide not to have chorionic villus sampling or amniocentesis. 

Chorionic villus sampling 

Chorionic villus sampling (CVS) is a test that can tell if the fetus has a genetic condition. ā€‹ā€‹CVS can be done from 10 through the end of 14ā€‹ weeks of pregnancy. 

For this test, an experienced doctor removes a small amount of tissue using a very thin needle or tube. The fetus is not touched. The tissue contains the same chromosomes as the fetus. The chromosomes are counted and examined. 

CVS is considered a safe test when performed by a medical expert at a state-approved Prenatal Diagnosis Center. The risk of miscarriage due to CVS is small ā€“ less than 1 in 450. The CVS result is usually ready in two weeks. 

Amniocentesis 

Amniocentesis is a test that can tell if the fetus has a genetic condition. This test can be done starting from 15 weeks of pregnancy. 

For this test, an experienced doctor takes a small amount of the fluid around the fetus with a thin needle. The fetus is not touched. This fluid contains cells from the fetus. The chromosomes in these cells are counted and examined. 

Amniocentesis is considered a safe test when done by a medical expert at a state-approved Prenatal Diagnosis Center. The risk of miscarriage due to amniocentesis is small ā€“ less than 1 in 900. The amniocentesis result is usually ready in two weeks.ā€‹

Program Resources

Patient Booklet Summary - These summaries should be used in addition to the patient booklets, not instead of them. It is important that each patient receive the patient booklet. The patient booklet includes a full description of the program and its components, what consent means, and mandated legal notices.
ā€‹
Starting April 1, 2024, the CA PNS Program will add sex chromosome aneuploidies (SCAs) ā€“ also referred to as X and Y chromosome variations ā€“ to the state cell-free DNA screening panel.

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