Preimplantation diagnosis of Jewish genetic diseases: An interview with Snunit Ben-Ozer, M.D.

Dr. Lavin: There are several methods to prevent genetic diseases generally and in Jewish people specifically. (See my previous blog on Jewish Genetic Diseases.) I have the distinct pleasure of interviewing an expert in Infertility and Reproductive Endocrinology who will discuss various options for prevention. Before we delve into preimplantation diagnosis, Dr. Ben-Ozer, can you explain amniocentesis and CVS sampling?

Dr. Ben-Ozer: Amniocentesis (Amnio), Chorionic Villous Sampling (CVS) and Preimplantation Genetic Diagnosis (PGD) are all procedures that detect chromosomal (genetic) abnormalities in the fetus. Amnio, in which amniotic fluid from around the baby is collected by passing a needle through the mother‘s abdomen and the uterus, is generally performed around 14-16 weeks of gestation. CVS is a placental biopsy obtained through the vagina, usually at 10-12 weeks of gestation, but may be of higher risk than the Amnio.

Dr. Lavin: Very simply, what is fertilization and what is an embryo? What is in vitro fertilization and what is preimplantation diagnosis?

Dr. Ben-Ozer: In vitro fertilization is a process by which oocytes (eggs) are retrieved from a woman, combined with sperm in a specialized laboratory, and the resulting fertilized eggs, called embryos, are grown for several days until they are either transferred back into the womb (uterus) or frozen for future use. PGD is a process by which a chromosome analysis is performed on embryos prior to transferring them into the uterus, in order to select normal embryos. This is performed by a highly skilled embryologist who under the microscope makes an opening in the shell surrounding the embryo, removes a single cell (sometimes a few) from each embryo, and fixes it on a slide in preparation for a DNA analysis.

Dr. Lavin: In PGD, how do you tell a good cell from a bad cell?

Dr. Ben-Ozer: Two days following the biopsy, we receive a detailed report of the chromosome analysis of each embryo, so we can select a normal embryo to transfer into the uterus.

Dr. Lavin: How successful is this procedure and are there risks?

Dr. Ben-Ozer: When done properly, the embryo at the early stages of development does not appear to be harmed by the absence of a single or several cells. This is a highly technical procedure and should only be performed in specialized IVF laboratories by specially trained embryologists. The DNA analysis is also very complex, and the DNA biopsy slides are sent to specialized laboratories around the country, depending on the specific genetic analysis needed. The accuracy of the testing is close to 100%.

Dr. Lavin: What is your role in these procedures?

Dr. Ben-Ozer: My role is to review the appropriate genetic options available to the couple, stimulate the woman to produce multiple eggs, perform the egg retrieval procedure, review the chromosome analysis, and perform the embryo transfer procedure, in which the embryo(s) are placed back into the uterus by passing a special catheter through the vagina, usually under ultrasound guidance.

Dr. Lavin: Let’s discuss the religious, ethical and moral aspects. Do we need a Rabbi’s opinion at this point?

Dr. Ben-Ozer: Many IVF cycles are done with Halachic blessing and supervision. Because In vitro Fertilization was obviously not available in Biblical times, certain Rabbis evaluate the couple’s specific needs and history in relation to the intent of the Halachic laws, and decide if the couple is religiously supported in proceeding with IVF, surrogacy, and even egg donation.  Thus, Jewish couples are encouraged to speak with their local Rabbi if they are having fertility issues.

Snunit Ben-Ozer, M.D. is board certified in both Reproductive Endocrinology, Infertility and Ob/Gyn and is Founder of the Tree of Life Center for Fertility in Tarzana, and Beverly Hills. She is also Associate Clinical Professor at the University of California Los Angeles, Dept Ob/Gyn and has a special interest in fertility in advanced maternal age, PCOS, and recurrent pregnancy losses.

For Further Information Contact:
Snunit Ben-Ozer, M.D.
18370 Burbank Blvd., Suite 514
Tarzana, CA 91356
Phone #: 818-344-8522