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Genetic counseling can increase 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 children, 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.  Examples of some common conditions that might be discussed during genetic counseling include Down syndrome, fragile X syndrome, cystic fibrosis, sickle cell anemia, Tay-Sachs disease, and others. 

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 counseling.

Women over age 33 will be offered genetic counseling to discuss their maternal age risk for having a child with a chromosome abnormality, such as Down syndrome. Other candidates for genetic counseling include anyone considering intracytoplasmic sperm injection (ICSI) or preimplantation genetic diagnosis, as well as couples whose ethnic background may predispose them to particular hereditary disorders.

What is a genetic counselor?
Genetic counselors are health professionals with specialized graduate degrees and experience in the areas of medical genetics and counseling. Most enter the field from a variety of disciplines, including biology, genetics, nursing, psychology, public health and social work.  They provide 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 session, the counselor obtains a detailed family history, identifies and discusses any risks to future offspring, reviews available options and tests and provides support. 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 currently provide preimplantation genetic diagnosis (PGD) for couples at risk for having a child with cystic fibrosis (CF).  PGD allows for specific genetic testing of 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. We plan to offer PGD for additional hereditary conditions in the future. 

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

Cathleen Lawson, MS, CGC

Johns Hopkins Hospital
Nelson 2-150
600 North Wolfe Street
Baltimore, MD 21287
phone: 410-955-3091
fax: 443-287-2358

 

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