Abstract

INTRODUCTION: The American College of Obstetrics and Gynecology states asking pregnant patients about family history (FHx) of genetic disease plays an important role in identifying and managing pregnancies with higher risk of genetic conditions. Few studies have assessed these conversations between pregnant patients and their obstetric care providers (OBS). METHODS: IRB approval was obtained to collect audio recordings and to transcribe conversations between pregnant patients and OBS during the first obstetric visit. A formulated codebook identified conversation segments containing FHx and genetic disorders and labeled the content of conversations. An independent coder reviewed transcripts to insure intercoder reliability, validity and accuracy. We identified communication patterns, categories, and themes. RESULTS: Of 152 transcripts, FHx was discussed in 93% of conversations. Genetic disorders most commonly mentioned were Down Syndrome (89%), Cystic Fibrosis (78%) and Sickle Cell Disease (75%). These were often discussed in the context of genetic screening tests. OBS asked patients to identify their ethnicity in 40% of visits. The father of the baby was present for 32% of visits, father’s ethnicity assessed in 51%, and father’s FHx discussed 48% of the time. Father’s presence at the visit was not associated with likelihood of OBS asking about their FHx. In 10% of visits OBS conveyed assumptions that if the patient did not recognize a disease, this represented a negative FHx for that disorder. CONCLUSION: While OBS assessed FHx in most first obstetric visits, communication approaches used in these assessments may not elicit complete information given that specific disorders and father’s FHx were not consistently discussed.

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