Prenatal Diagnosis Center

About Us

More than 10,000 women turn to Cedars-Sinai Medical Center each year for their maternity care. As a leader in the field of Obstetrical care, research, and education, Cedars-Sinai offers state of the art medical care to women for both routine and high-risk pregnancies. The Prenatal Diagnostic Center at Cedars-Sinai provides the latest in the medical capabilities to its patients and their families, in a warm and compassionate environment.

The Cedars-Sinai Prenatal Diagnosis Center offers the latest in prenatal testing, genetic counseling and high-risk pregnancy consultation and management. These highly specialized services include:

The Prenatal Diagnosis Center provides two basic types of services. Screening and/or testing for specific genetic, medical or obstetrical conditions, and consultation and management of genetic, medical, or obstetrical disorders that are identified. Prenatal diagnostic and screening testing are often recommended for those patients with the following risk factors:

  • Pregnant women who will be 35 years of age or older on their due date
  • Families with a history of genetic disorders or who have a child or close relative with a chromosomal abnormality, such as Down syndrome. This includes families with a history of open neural tube defects of the spine (e.g. spina bifida) or birth defects.
  • Patients with a history of two or more miscarriages or with a history of infertility.
  • Multi-fetal pregnancies. (twins, triplets, etc)

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Genetic Counseling

Couples meet with our genetic counselor before having a diagnostic procedure. A careful genetic family history helps measure the risks for genetic problems in the developing baby. The counselor explains the risks, benefits and limitations of the testing procedures so the parents can choose a course of action based on their own specific family needs and goals.

Genetic counselors are healthcare providers with specialized graduate degrees and expertise in the areas of medical genetics and counseling. Genetic counselors:

  • Identify families at risk
  • Evaluate the family for possible genetic disorders
  • Analyze inheritance patterns and risks of recurrence
  • Provide genetic testing information and test result interpretation
  • Coordinate referrals to other healthcare providers as needed

Individuals and families who may benefit from genetic counseling include:

  • Persons or families with a history of congenital heart defects, cleft lip or palate, spina bifida, short stature or other physical birth defects
  • Persons or families with genetic disorders, such as Down syndrome, cystic fibrosis, Huntington disease, muscular dystrophy, PKU, hemophilia and other inherited disorders
  • Persons or families affected with mental retardation, hearing or visual impairments, learning disabilities or other conditions that could be genetic
  • Persons with a history of certain cardiac, cancer, psychiatric or neurogenetic adult disorders
  • Persons with a history of multiple miscarriages, stillbirths or early infant deaths involving multiple congenital anomalies
  • Pregnant women at high risk due to abnormal nuchal translucency screening results, Expanded AFP screening results or ultrasound screening tests
  • Women age 34 or over who are pregnant or are planning a pregnancy
  • Pregnant women concerned about the effects of exposure to medication, drugs, chemical, infectious agents, radiation, or certain work conditions
  • Persons in specific ethnic groups or geographic areas with a higher incidence of certain disorders, such as Tay-Sachs disease, sickle cell disease or thalassemias

Before you arrive for genetic counseling, we ask that you complete the genetic screening questionnaire and bring it with you to your appointment.

Please click here to access the questionnaire (pdf*).

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Amniocentesis

Amniocentesis is usually performed between the 16th and 20th weeks of pregnancy. Using ultrasound to see the position of the baby, the doctor guides a thin needle through the mother's abdominal wall and into the sac surrounding the fetus. A small amount of fluid is removed for analysis. The cells from the fluid are used to diagnose large chromosomal abnormalities, such as Down syndrome. Additional testing is available for more specific genetic diseases that may run in families.

When performed by an experienced physician, amniocentesis is a safe procedure. Complications occur in about one in 200 cases. A miscarriage occurs about one in 300 cases. Chromosome results are usually available in 10 to 14 days. Results of biochemical tests done in outside laboratories are usually available in two to four weeks.

You can read or print this page here (pdf*).

In order to expedite the scheduling process, we ask that you complete the Request for Appointment Form* and return it to us via fax at (310) 423-9939. A patient representative will then contact you to schedule your appointment for the procedure. If you prefer, you may also schedule an appointment by contacting our office directly at (310) 423-9999.

You can read, download, and complete all procedure documentation* before you arrive. Please bring these forms with you on the day of your procedure.

For all other information, please call (310) 423-9990.

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Chorionic Villi Sampling (CVS)

CVS is a procedure in which a small amount of placental tissue is removed during the 10th to 13th week of pregnancy for genetic testing. Chorionic villi tissue originates from the same fertilized egg as the fetus and contains the same genetic data as the fetus. These cells can be analyzed for many fetal genetic disorders before birth.

The Prenatal Diagnosis Center has physicians who are specially trained in genetic diagnosis. John Williams, III, MD has performed more than 15,000 CVS procedures during his career and is well respected throughout the country as a leading expert in the performance of obstetrical ultrasound and prenatal diagnosis.

Genetic counseling is provided before each CVS procedure. Our genetic counselors work closely with the physicians and are an invaluable part of ensuring that patients have a positive CVS experience. The counselors provide a complete family history evaluation, and they provide information to help families decide if the procedure is right for them. They are also instrumental in helping families cope with abnormal results.

There are two ways to perform CVS - transcervical and transabdominal. The type that is right for you will depend on the number of fetuses, the position of your uterus and the location of your placenta within the uterus. Both approaches include a detailed ultrasound examination.

Testing Prior to CVS

Patients referred for CVS should have the following tests performed and should have all results sent to the CVS provider:

  • Prenatal panel (blood) and Chlamydia, Gonorrhea, and Group B Strep tested at their obstetrician's office two weeks prior to their procedure
In order to have a Chorionic Villi Sampling (CVS) procedure, we will need labs and cultures results faxed to our office before the date of your procedure.

Please click here to view or print the form (pdf*).

Candidates for CVS

CVS is discussed as an option for prenatal Diagnosis for many reasons. The most common reasons are:

  • A woman is 35 or older at the time of delivery
  • Family history of an inherited genetic disorder (chromosomal or others)
  • Increased risk of chromosomal abnormalities based on first trimester screening methods
  • Fetal abnormality seen with first trimester ultrasound
  • Parents who have a child with Down Syndrome or other genetic disorder

Fetal sex selection is not an indication for CVS except in rare cases of gender-related genetic disorders.

Results

Diagnostic results from CVS are available earlier than other methods of prenatal diagnosis. Amniocentesis, by comparison, is not generally performed until at least 15 weeks with results available two weeks later. Results from CVS are available by the 10th to 13th week of pregnancy, usually before a woman begins showing or feels fetal movement. This provides more privacy and possibly less emotional distress with regard to decisions about continuing the pregnancy.

Preliminary chromosome results are available two to four business days after the procedure. Final chromosome results are available in 12 to 14 days. Other genetic tests may take longer, depending on type and the need for an outside laboratory.

Risks of CVS

When performed by an experienced physician, CVS is a safe procedure. CVS-related complications and miscarriage occur about 0.5% more often then the natural miscarriage rate of one in 50 pregnancies. Other minor problems such as vaginal bleeding (spotting) or mild cramping are reported to occur more often after CVS than amniocentesis.

Post CVS Instructions

We have prepared an instruction sheet that describes the steps you will go through after the procedure.

You can read or print this page here (pdf*).

Appointments

In order to expedite the scheduling process, we ask that you complete the Request for Appointment Form* and return it to us via fax at (310) 423-9939. A patient representative will then contact you to schedule your appointment for the procedure. If you prefer, you may also schedule an appointment by contacting our office directly at (310) 423-9999.

You can read, download, and complete all procedure documentation* before you arrive. Please bring these forms with you on the day of your procedure.

For all other information, please call (310) 423-9990.

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Ultrasound

Ultrasound uses sound waves to produce an image of the fetus inside the womb. It poses no minimal risk to either mother or baby, but it should be performed by a licensed healthcare professional. Common reasons for having an ultrasound include:

  • Determining the age of the fetus
  • Determining a cause for bleeding during pregnancy
  • Evaluating the anatomy, blood flow, and size of the fetus
  • Diagnosing multiple births
  • Checking for the fetus' position in the womb
  • As guidance for amniocentesis and CVS

A Level II ultrasound is a high resolution ultrasound used to assess the entire fetal anatomy. The outstanding expertise of the medical team at the Prenatal Diagnosis Center, coupled with the latest in ultrasound technology, allows us to offer the patient the highest level of diagnostic accuracy and medical counseling.

Ultrasound is also used to guide amniocentesis and chorionic villi sampling. High-resolution (Level II) ultrasound can detect many but not all fetal abnormalities. At the Cedars-Sinai Prenatal Diagnosis Center, we offer you state-of-the-art equipment and an experienced staff for the best possible care.

In order to expedite the scheduling process, we ask that you complete the Ultrasound and NST Form* and return it to us via fax at (310) 423-9939. A patient representative will then contact you to schedule your appointment for the procedure. If you prefer, you may also schedule an appointment by contacting our office directly at (310) 423-9999.

For all other information, please call (310) 423-9990.

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Fetal Echocardiography

The fetal echocardiogram is an ultrasound study of the fetal heart. This study is painless and posses no known risk to either the mother or baby.

Common indications for performing fetal echocardiography are:

  • Suspected heart disease on obstetrical ultrasound
  • Family history of congenital heart disease
  • Known or suspected chromosomal abnormality
  • Other fetal malformations
  • Irregular fetal heart rhythms
  • Maternal medical illness (diabetes, Lupus, PKU, etc)
  • Maternal exposure to drugs or infections that affect the fetal heart structure of function
At Cedars-Sinai Medical Center, fetal echocardiography is performed and interpreted by our trained staff and/or a pediatric cardiologist with special expertise in fetal cardiac imaging. The results will be shared with the mother and family during the same visit in which the test was performed.

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Expanded AFP Genetic Testing

The Prenatal Diagnosis Center at Cedars-Sinai is a state-approved alpha-fetoprotein (AFP) prenatal diagnosis center. AFP screening is performed on a blood ample obtained during the 15th and 20th week of pregnancy. It detects about 90% of fetuses with "open structural defects", such as neural tube defects or abdominal wall defects, as well as approximately 60% of babies with Down syndrome and Trisomy 18.

First Trimester Screening

First Trimester Screening uses ultrasound to measure the clear ("translucent") space in the tissue at the back of the developing fetus¿ neck. This measurement is combines with the measurement of two proteins in a sample of blood to assess the fetuses risk for Down syndrome and other chromosomal abnormalities as well as congenital heart defects. Fetuses with structural or genetic abnormalities often accumulate more fluid at the back of the neck during the first trimester, causing this clear space to enlarge. While the nuchal translucency screening is not a definitive diagnosis, it can help in assessing the need for further invasive diagnostic testing, such as amniocentesis and CVS. The First Trimester Screening must be done between 11 weeks one day, and 13 weeks six days of pregnancy.

It is important to remember that this is a screening test and does not directly test for chromosomal problems. A normal result (called "screen negative") is not a guarantee that your fetus is healthy, but it does suggest that a chromosomal problem is less likely. An abnormal result called ("screen positive") does not mean that your fetus has a definite chromosomal problem, but it does suggest an increase risk for a chromosomal abnormality.

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Antenatal Testing

Antenatal (before birth) testing helps our health care team evaluate the well-being of the fetus in the late pregnancy. It usually involves electronic fetal heart rate monitoring and ultrasound. Antenatal testing is used for those who are at risk for problems with delivery or birth defects. Some of the patients who may benefit from antenatal testing are:

  • Patients whose pregnancies have gone beyond their due date
  • Patients who have diabetes or chronic hypertension (high blood pressure)
  • Patients whose pregnancies demonstrate poor fetal growth (intrauterine growth restriction)
  • Patients who have multiple pregnancies or bleeding during pregnancy
  • Patients who have too much or too little amniotic fluid
  • Patients who currently have children with congenital anomalies

On the Antenatal Unit, a wide variety of tests are performed to evaluate the health of the mother and baby. These include ultrasounds, amniocentesis, Doppler studies, maternal blood testing and other sophisticated tests. The results of these tests help patients and physicians determine the best course of care through the pregnancy, delivery and first weeks of life.

Services are available by referral from a doctor and are provided on an outpatient basis. Mothers hospitalized before delivery in our Maternal-Fetal Care Unit may also be tested here. For more information, please call (310) 423-3366.

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Specialized Services

Cytogenetic Laboratory Services

The Prenatal Diagnosis Center also includes a clinical cytogenetics laboratory. The laboratory provides prompt, efficient diagnosis of chromosome-related disorders.

Genetic Diseases Screening

Around the world distinct ethnic groups are known to have an increased risk for genetic diseases. For example, special tests are usually ordered for genetic diseases that are often found in people of Eastern European (Ashkenazi) Jewish decent. These genetic screening and many more offered at the Prenatal Diagnosis Center and your risk for these inherited diseases will be discussed with you.

Cystic fibrosis is a chronic disorder that primarily involves the respiratory, digestive and reproductive systems. Symptoms include pneumonia, diarrhea, poor growth and infertility. Some people are only mildly affected but individuals with severe disease may die in childhood. The average lifespan today is 32 years, but may improve as scientists search for better treatments. CF does not affect intelligence.

Tay-Sachs disease is caused by an enzyme deficiency that allows a harmful substance to build up in the brain in which the condition of the nerves grows worse over time. Symptoms first at about the age of six months and death will usually occur by five to eight years of age.

Canavan disease is a disorder which causes brain and nervous system degeneration. Symptoms include slow growth, poor muscle control, and a large head. Individuals with Canavan disease usually die early childhood. At this time there is no treatment.

Family dysautonomia is a nervous system disorder that causes vomiting, sweating, decreased pain sensibility, and unstable blood pressure or temperature. Individuals often have normal intelligence but may have learning disabilities. Only 50% of affected individuals will reach the age 30.

Bloom syndrome causes poor growth, poor immune system function and a high rate of cancer. Individuals with Bloom syndrome usually die from cancer before age 30. Bloom syndrome does not affect intelligence.

Falconi anemia group C is a disease that causes anemia, short stature and, oftentimes, abnormalities of the heart, kidneys or limbs. Some individuals have learning disabilities or mental retardation. Patients have a high rate of cancer, especially leukemia.

Gaucher disease is caused by an enzyme deficiency. Symptoms are variable and may include fatigue, enlarged liver and spleen, easy bruising and bleeding, bone pain and fractures. The most common form of Gaucher disease is treatable by enzyme replacement therapy. In the most severe form, which occurs less frequently, the brain and nervous system are also involved.

Glycogen storage disease type 1a is a disorder which causes severe low blood sugar, enlarged liver, delayed growth and bleeding. Treatment consists of a strict diet and continuous tube feedings of glucose.

Maple syrup urine disease is a disorder which causes certain amino acids to accumulate in the blood. The disease name refers to the characteristics odor of the urine. Without diagnosis and treatment, classis MSUD leads to mental retardation, physical disabilities, seizures and death. Treatment consists of a strict, lifelong special diet to attempt to control the accumulation of amino acids in the blood.

Mucholpidosis type IV affects the brain and nervous system. Symptoms begin in the first year of life, resulting in mental and physical retardation, and impaired vision. At this time there is no treatment.

Niemann -Pick disease type A causes poor growth enlarged liver, and mental and physical deterioration. Individuals with Niemann-Pick disease type A usually die by age four. At this time there is no treatment.

Sickle Cell Disease (SCD) is caused by the malfunction of the red blood cells causing a very severe form of anemia. It is estimated that sickle cell disease effects 1 of every 1,300 infants in the general population and approximately 1 of every 400 of African descent. Untreated newborns often develop septicemia, an infection of the blood, and die within a few weeks of birth. Even though there is no cure for sickle cell disease, it is treated by taking folic acid and penicillin throughout the life of the affected individual.

Thalassemia consists of a group of inherited diseases of the blood. About 100,000 babies worldwide are born with severe forms of the disease each year. Thalassemia occurs most frequently in people of Italian, Greek, Middle Eastern, Southern Asian and African ancestry. The most severe form of alpha thalassemia results in fetal or newborn death. Most individuals with alpha thalassemia have milder forms of the disease with varying degrees of anemia.

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Billing Information

As a patient of Cedars-Sinai Medical Center, your health and well-being are our primary concern. Attached is an information fact sheet to answer questions you may have regarding how you and your insurance company will be billed for services.

Please click here to view or print the fact sheet (pdf*).

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Contact Information

If your doctor suggests prenatal testing and you want more information, please contact the Prenatal Diagnosis Center at (310) 423-9990 or send a message by clicking on the button below.

Send Us a Message

In order to expedite the scheduling process, we ask that you complete the Request for Appointment Form and return to us via fax at (310) 423-9939. A patient representative will then contact you to schedule your appointment for the procedure. If you prefer, you may also schedule an appointment by contacting our office directly at (310) 423-9999.

Consultations

For physician-to-physician consultations:

Prenatal Diagnosis Center
Phone: (310) 423-3366
Fax: (310) 423-9939
Send Us a Message

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Parking / Directions

Parking

The Prenatal Diagnosis Center is located at 444 S.San Vicente Blvd, Suite 1001 in the Mark Goodson Building. Parking is available at a reduced rate.

Directions

If you need directions to the Mark Goodson building click here.

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