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Genetics Services

Why is genetics important in assisted reproductive technology?
The role of genetics in assisted reproductive technology (ART) is to optimize a couple's chance of having a healthy baby. Some forms of infertility, particularly male infertility, have a genetic basis. Couples with these forms of infertility may be at increased risk for transmitting infertility to their offspring, for having a miscarriage or for having a child with a serious genetic condition. Other patients may be at increased risk for having a baby with a genetic condition based on their family history, ethnic background or age.

Who is an appropriate candidate for genetic counseling?
All patients seen at our Center complete a comprehensive genetics-screening questionnaire, which is reviewed by a genetic counselor. Any individual or couple identified as being at increased risk for having a child with a genetic condition will be offered genetic counseling. In addition, women over age 33 will be offered genetic counseling to discuss their maternal age risk for fetal chromosome abnormalities, such as Down syndrome. Other candidates for genetic counseling include anyone considering intracytoplasmic sperm injection (ICSI), preimplantation genetic diagnosis, or couples whose ethnic background may predispose them to particular hereditary disorders.

What is a genetic counselor?
Genetic counselors are health care professionals with specialized graduate degrees and experience in the areas of medical genetics and counseling. They work as members of a health care team, providing information and support to couples who have a family history of a birth defect or genetic disorder or are at risk for having a child with an inherited condition. During a typical genetic counseling session, the genetic counselor would elicit a detailed family history, identify and discuss any risks to future offspring, review available options and testing and provide supportive counseling. The Division of Reproductive Endocrinology History Form will guide you through the information needed during a typical genetic counseling session.

What is preimplantation genetic diagnosis?
We plan to provide preimplantation genetic diagnosis (PGD) for couples at significant risk for having a child with a genetic condition. PGD allows for specific genetic testing in an embryo prior to implantation in the mother's womb. Genetic analysis is usually performed on one or two cells from an early embryo conceived through in vitro fertilization (IVF). Following genetic testing, only "unaffected" embryos are transferred into the mother's womb. PGD is available for couples at risk for having a child with cystic fibrosis (CF). We also plan to offer testing for B-thalassemia, adrenoleukodystrophy, and sex-linked conditions in the future. Please feel free to contact us regarding the upcoming availability of PGD for various conditions.

If you have further questions regarding genetic counseling or preimplantation genetic diagnosis, please contact:

Cathleen Escallon
Johns Hopkins Hospital
Nelson 2-150
600 North Wolfe Street
Baltimore, MD 21287
phone: 410-955-3091
fax: 410-955-0484