This guidebook is designed to be a "genetic counselor in your pocket". It is an ebook, in PDF format, with clickable links throughout the text. The topics are central to a clinic specializing in reproduction. It will lay out the resources, textbooks, and websites to have readily available for interpretative needs. There will be designated focus on the available tests to offer individuals pregnant or thinking about becoming pregnant. These tests include maternal serum screening, cell-free DNA screening, carrier screening, amniocentesis, and chorionic villus sampling. This guide will take it a step further and discuss the considerations to make when deciding which labs to use for these available tests. Genetic testing is quickly evolving, so the latest technological advances will be discussed. Lastly, case examples will be discussed to provide context to the considerations that need to be made when ordering and interpreting these test results.

I designed this guidebook initially for myself as a prenatal genetic counselor in order to compile all the information I needed in my practice in one place. While providing lectures to residents and working with a midwife, nurses, and practice managers, I realized other healthcare providers could find value in a guidebook to help navigate the nuances of genetic testing in the reproductive field. Even once I transitioned to preimplantation genetic testing counseling, I found myself referring back to the prenatal topics, and yet again, compiling all the literature relevant to assisted reproductive technology and the intersection of genetic testing. It took over 2 years to publish the guidebook given the constant updates. The ebook format allows for the ability to update the text as new guidelines and technology come out. There are in text citations throughout the text for you to find the study or guideline to support the statement made. I was also very lucky to have a team of genetic counselors provide their expertise in reviewing the text. I am thrilled to be able to share this guidebook, and I hope it provides value to your daily practice.

While this is a guidebook for reproductive genetics, it is not meant to be medical advice. As a practicing clinician, it is imperative the content is verified and to make recommendations based on the clinician's experience and the patient's history. Referrals to the appropriate care providers such as maternal fetal medicine specialties, reproductive endocrinologies, geneticists, and genetic counselors is important, and this book does not replace any guidance provided by these specialists. Purchase and use of the guidebook conveys that you agree to the terms of the book’s disclaimer and the site’s Terms and Conditions.