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Prenatal Diagnostic Testing

Why Should a Patient Consider Diagnostic Testing?

There are several reasons why your OB/GYN or genetic specialist may suggest prenatal testing for you. These can include abnormal blood or ultrasound results in the current pregnancy, a prior pregnancy or family history of abnormality, or the desire for a diagnostic test to provide additional information not otherwise available through alternative screening options.

Chorionic Villus Sampling (CVS) or Amniocentesis

Your genetics specialist and/or OB/GYN may recommend prenatal tests such as chorionic villus sampling (CVS) or amniocentesis to obtain more information about your pregnancy. Both procedures are available at GIVF Fertility, and the GIVF Fertility genetics team will help you decide which tests would be most informative and appropriate for your needs.


What Is Chorionic Villus Sampling (CVS)?

CVS is a procedure to remove a small amount of tissue called the chorionic villi, which is located on the outside of the fetal gestational sac. This tissue shares its genetic makeup with the fetus, not the mother. The chorionic villi cells may be used for chromosome analysis or other fetal genetic testing. The CVS may be performed by passing a thin needle through the abdomen wall or the cervix, depending on the location of the villi in the uterus. At GIVF, we have observed the risk for a CVS procedure-related complication to be approximately 1 in 1,000 (0.01%). GIVF Fertility is one of the most experienced centers in the world at performing this diagnostic test, having provided over 35,000 patients with this testing option.

What Is Amniocentesis?

Amniocentesis is a procedure to remove a small amount of amniotic fluid that surrounds the fetus. The amniotic fluid contains cells that have been shed by the fetus during normal development. These cells may then be used for chromosome tests and/or specific genetic tests. The fluid is used to screen for open neural tube defects (such as open spina bifida). At GIVF, we have observed the risk for an amniocentesis procedure-related complication that may cause a miscarriage to be approximately 1 in 1,000 (0.01%). GIVF Fertility has provided amniocentesis testing for over 45,000 patients.

Your Appointment With Your Genetic Specialist

When your physician suggests genetic testing during your pregnancy, it can seem intimidating and you may not know what to expect. It is our goal to provide you with as much information in advance as we can so you know what to expect.

When you call for a consultation, our staff will ask you a few questions to help prepare for your appointment. We also recommend that you let us know if you are taking blood thinner medications when making your appointment.

During your consultation at GIVF Fertility, a licensed, certified genetic counselor or reproductive geneticist will review your history and testing.

Next, you will undergo testing procedures based on the gestational age of the pregnancy. Additional details about the risks, benefits, and limitations of the tests, including post-procedure care instructions, will be provided during the consultation.

The decision to pursue diagnostic testing can be difficult, and the results can often feel complicated. Our genetic specialists will support you through the testing process, provide counseling about the test results, and offer guidance regarding any pregnancy implications. We will also share additional recommendations for your pregnancy and reproductive planning.

If you are referred by your physician for prenatal testing, contact us online, or call (800) 552-4363 for an appointment with one of our genetic specialists.

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