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INTRODUCTION

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Case 1: Ms. Meckel is a 25-year-old whose first and only pregnancy ended in a full-term normally grown infant with a large skin-covered encephalocele. The infant died a few hours after birth which, she was told, was the result of undeveloped lungs. Her family history, as well as her husband's, is negative for a history of neural tube defects, or any other birth defects. Likewise, there is no history of early infant death in any family members. Ms. Meckel believes an autopsy was performed, but she has never seen a report, or been told the results of the autopsy. She would like to have a child, but is concerned about the risk she will have another child with the same condition. How would you counsel this patient?

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For a couple at risk for having a child with a genetic disorder there are a number of reproductive options: (1) choosing to remain childless, (2) having children and accepting the risk, (3) choosing to have prenatal diagnosis to determine if the fetus is affected, (4) having artificial insemination or oocyte donation to avoid passing on the mutant gene, (5) undergoing preimplantation genetic diagnosis (PGD), or (6) adoption. In order to have all these options available to them, a couple must receive counseling regarding their specific risks before becoming pregnant; thus, the term preconception counseling.

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A preconception counseling session should include a detailed family history and construction of a pedigree. Medical records should be obtained, if necessary, to confirm a diagnosis. Complete medical histories of both members of the couple should be ascertained. Should a significant factor be found, the information provided should include the risk of occurrence in their offspring, the natural history of the disorder, and the testing available to them. Counseling should always be done in a nondirective fashion.

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Preconception counseling is the responsibility of all obstetrician-gynecologists, but it is also their responsibility to remain current on diagnostic tests available to determine carrier status or for prenatal diagnosis. Because genetics is a rapidly changing field, each practitioner should have a good working relationship with the local genetics center, and refer couples for consultation, when the situation requires more in-depth knowledge of the disorder, there is an undiagnosed disorder, or when more specialized testing is necessary.

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The purpose of this chapter will be to discuss those circumstances in which preconception genetic counseling is appropriate. Table 6-1 briefly outlines the family history, medical history, and social history factors that may require a preconception counseling session. Although it is possible to elicit these findings by careful history taking, a more cost-effective approach is to use a questionnaire such as the one offered by the American College of Obstetricians and Gynecologists (ACOG). In addition to a questionnaire, it is important to ask a general question such as: “Is there any child that died unexpectedly, any person who has a learning disability or is 'slow,' or ...

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