title: At the Heart of the Pregnancy: What Prenatal and Cardiovascular Genetic Counselors Need to Know about Maternal Heart Disease.
abstract: In the last decade, an increasing number of cardiac conditions have been shown to have a genetic basis. Cardiovascular genetic counseling has emerged as a subspecialty aiming to identify unaffected at-risk individuals. An important sector of this at-risk population also includes expectant mothers, in whom unique clinical challenges may arise. Genetic counselors, especially those in cardiovascular and prenatal settings, have an opportunity to identify and assist women who may benefit from cardiovascular care during pregnancy. This paper provides basic management and genetic evaluation principles for affected women, as well as guidance on identifying those who are at risk. We provide considerations for cardiac surveillance in pregnancy and the post-partum period. Finally, key psychosocial issues that appraise how to best provide support to at risk women as they make informed decisions are discussed. We propose that a team approach including cardiology, maternal fetal medicine, and genetic counseling best serves this patient population. Ongoing questions addressing an evidence based approach to cardiovascular genetic conditions in pregnancy still remain. Thus, well-designed research protocols are essential to mark progress in this area.
authors.affiliation: Department of Internal Medicine, The Ohio State University, Columbus, OH, USA. ana.morales@osumc.edu.|Human Genetics Division, The Ohio State University, 306 BRT, 460 W. 12th Ave, Columbus, OH, 43210, USA. ana.morales@osumc.edu.
authors.forename: Ana
authors.identifier: http://orcid.org/0000-0002-0114-7974
authors.initials: A
authors.lastname: Morales
authors.affiliation: Department of Internal Medicine, The Ohio State University, Columbus, OH, USA.|Human Genetics Division, The Ohio State University, 306 BRT, 460 W. 12th Ave, Columbus, OH, 43210, USA.
authors.forename: Dawn C
authors.initials: DC
authors.lastname: Allain
authors.affiliation: Department of Human Genetics, University of Michigan, Ann Arbor, MI, USA.
authors.forename: Patricia
authors.initials: P
authors.lastname: Arscott
authors.affiliation: Allegheny General Hospital, Pittsburgh, PA, USA.
authors.forename: Emily
authors.initials: E
authors.lastname: James
authors.affiliation: Institute of Genetic Medicine, Johns Hopkins University, Baltimore, MD, USA.
authors.forename: Gretchen
authors.initials: G
authors.lastname: MacCarrick
authors.affiliation: Division of Cardiology, Johns Hopkins University, Baltimore, MD, USA.
authors.forename: Brittney
authors.initials: B
authors.lastname: Murray
authors.affiliation: Division of Cardiology, Johns Hopkins University, Baltimore, MD, USA.
authors.forename: Crystal
authors.initials: C
authors.lastname: Tichnell
authors.affiliation: Heart Institute, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
authors.forename: Amy R
authors.initials: AR
authors.lastname: Shikany
authors.affiliation: Department of Obstetrics and Gynecology, Northwestern Medicine, Chicago, IL, USA.
authors.forename: Sara
authors.initials: S
authors.lastname: Spencer
authors.affiliation: The Heart Center, Nationwide Children's Hospital, Columbus, OH, USA.
authors.forename: Sara M
authors.initials: SM
authors.lastname: Fitzgerald-Butt
authors.affiliation: Oregon Health and Science University, Portland, OR, USA.
authors.forename: Jessica D
authors.initials: JD
authors.lastname: Kushner
authors.affiliation: GeneDx, Gaithersburg, MD, USA.
authors.forename: Christi
authors.initials: C
authors.lastname: Munn
authors.affiliation: Cardiovascular Genetics Program, Yale School of Medicine, New Haven, CT, USA.
authors.forename: Emily
authors.initials: E
authors.lastname: Smith
authors.affiliation: Department of Medicine, Krannert Institute of Cardiology, Indiana University School of Medicine, Indianapolis, IN, USA.
authors.forename: Katherine G
authors.initials: KG
authors.lastname: Spoonamore
authors.affiliation: Division of Cardiology, Johns Hopkins University, Baltimore, MD, USA.
authors.forename: Harikrishna S
authors.initials: HS
authors.lastname: Tandri
authors.affiliation: Department of Medicine, Krannert Institute of Cardiology, Indiana University School of Medicine, Indianapolis, IN, USA.
authors.forename: W Aaron
authors.initials: WA
authors.lastname: Kay
mesh_terms: D000328:Adult; D002318:Cardiovascular Diseases / Q000151:congenital* / Q000175:diagnosis*; D000072117:Counselors / Q000592:standards*; D005260:Female; D005817:Genetic Counseling / Q000592:standards*; D006801:Humans; D011247:Pregnancy; D011249:Pregnancy Complications, Cardiovascular / Q000175:diagnosis*; D011296:Prenatal Diagnosis / Q000592:standards*; D012307:Risk Factors
keywords: Aortopathy; Cardiomyopathy; Cardiovascular genetics; Channelopathy; Congenital heart defects; Connective tissue disorders; Coronary artery disease; Post-partum; Pregnancy; Prenatal genetics