American Board of Obstetrics and Gynecology (Maternal and Fetal Medicine)
Professional History
With early career training in human genetics, I saw the unfolding of our understanding of the deep connection between human genetics and pregnancy outcomes – both those pregnancies which proceed without complication and those with unexpected complications such as preterm delivery, preeclampsia or a fetal condition. In these settings, helping a woman and her family navigate the vast information available, prepare for her delivery and develop a support system to sustain her through this process is a challenge and a privilege. My participation with multispecialty care teams provides me daily re-enforcement of their value and the need for patients to be informed as they face a life-changing experience.
As a geneticist, we are only beginning to understand the vast range of genomic contributions to pregnancy outcomes. Continuing to explore how genetics influences a pregnancy is critical. And that what was once considered dogma should always be open for re-analysis. A highlight of my time working in the field of congenital anomalies has been with our fetal cardiac intervention program. Involving a range of specialists, our team showed that the accepted version of a birth defect as a static and predetermined event may not always be true. Some birth defects may result from progressive change through a pregnancy. For a subgroup of fetuses with hypoplastic left heart syndrome, we demonstrated that stenosis of the aortic valve can be the primary event. As the pregnancy continues progressive loss of fetal left ventricle function occurs and results in a newborn with classic HLHS. Most importantly, “in utero” valve dilation of the aortic valve stenosis can prevent further damage to the left ventricle. Over the past 15 years, this team has worked on perfecting and minimizing maternal risks of the procedure, identifying key imaging criteria, and explored at the biologic level how to differentiate the degree of fetal heart damage. As the primary fetal interventionist for this team since 2000, the progress made in both the technique and the outcomes for these children has been a gift.
Approach to Care
My job as a high-risk obstetrician and geneticist combines my passion for understanding complex conditions and translating that information into compassionate and patient centered care. While the individual circumstances of a specific complication and family are always unique, a team approach assures compassionate, broad reaching and patient specific support.
Maternal Vascular Malperfusion and Anatomic Cord Abnormalities Are Prevalent in Pregnancies With Fetal Congenital Heart Disease. View Abstract
The bright future of fetal cardiology. View Abstract
The patient experience of a postpartum readmission for hypertension: a qualitative study. View Abstract
Technical Success and Serious Adverse Events for Fetal Aortic Valvuloplasty in a Large 20-Year Cohort. View Abstract
High-Resolution and Noninvasive Fetal Exome Screening. View Abstract
Prenatal vs postnatal diagnosis of 22q11.2 deletion syndrome: cardiac and noncardiac outcomes through 1 year of age. View Abstract
Unique Challenges of NIPT for Sex Chromosome Aneuploidy. View Abstract
Transuterine Ultrasound-Guided Fetal Embolization of Vein of Galen Malformation, Eliminating Postnatal Pathophysiology. View Abstract
Postnatal genetic testing on cord blood for prenatally identified high-probability cases. View Abstract
Single gene non-invasive prenatal screening for autosomal dominant conditions in a high-risk cohort. View Abstract
Redesigning Care for the Management of Postpartum Hypertension: How Can Ob-Gyns and Primary Care Physicians Partner in Caring for Patients after a Hypertensive Pregnancy? View Abstract
The hypergonadotropic hypogonadism conundrum of classic galactosemia. View Abstract
Overcoming roadblocks in clinical innovation via high fidelity simulation: use of a phantom simulator to achieve FDA and IRB approval of a clinical trial of fetal embolization of vein of Galen malformations. View Abstract
Prenatal diagnosis of sex chromosome aneuploidy-What do we tell the prospective parents? View Abstract
Hemodynamic and anatomic changes after fetal aortic valvuloplasty are associated with procedural success and postnatal biventricular circulation. View Abstract
Percutaneous transuterine fetal cerebral embolisation to treat vein of Galen malformations at risk of urgent neonatal decompensation: study protocol for a clinical trial of safety and feasibility. View Abstract
ISPD 2021 debate - All in vitro fertilization cycles should involve pre-implantation genetic testing to improve fetal health and pregnancy outcomes. View Abstract
International Society for Prenatal Diagnosis Updated Position Statement on the use of genome-wide sequencing for prenatal diagnosis. View Abstract
Counseling for personal health implications identified during reproductive genetic carrier screening. View Abstract
Problems with Using Polygenic Scores to Select Embryos. View Abstract
Utility of noninvasive genome-wide screening: a prospective cohort of obstetric patients undergoing diagnostic testing. View Abstract
Late gestation predictors of a postnatal biventricular circulation after fetal aortic valvuloplasty. View Abstract
General practitioners' knowledge about pregnancy complications associated with long-term cardiovascular risk. View Abstract
Opportunities and challenges for international societies in the COVID-19 era. View Abstract
Effect of In Utero Non-Steroidal Anti-Inflammatory Drug Therapy for Severe Ebstein Anomaly or Tricuspid Valve Dysplasia (NSAID Therapy for Fetal Ebstein anomaly). View Abstract
International Society for Prenatal Diagnosis Position Statement: cell free (cf)DNA screening for Down syndrome in multiple pregnancies. View Abstract
Gene and Stem Cell Therapies for Fetal Care: A Review. View Abstract
Special issue on "Feto-Maternal Genomic Medicine": a decade of incredible advances. View Abstract
Genetic innovations and our understanding of stillbirth. View Abstract
Fetal Aortic Valvuloplasty for Evolving Hypoplastic Left Heart Syndrome: A Decision Analysis. View Abstract
Fetal cardiac intervention-Perspectives from a single center. View Abstract
Caring for Women After Hypertensive Pregnancies and Beyond: Implementation and Integration of a Postpartum Transition Clinic. View Abstract
Fetal phenotypes emerge as genetic technologies become robust. View Abstract
Fetal cardiac abnormalities: Genetic etiologies to be considered. View Abstract
Randomized Trial to Reduce Cardiovascular Risk in Women with Recent Preeclampsia. View Abstract
Improved technical success, postnatal outcome and refined predictors of outcome for fetal aortic valvuloplasty. View Abstract
Biological explanations for discordant noninvasive prenatal test results: Preliminary data and lessons learned. View Abstract
Have we done our last amniocentesis? Updates on cell-free DNA for Down syndrome screening. View Abstract
Early hemodynamic changes after fetal aortic stenosis valvuloplasty predict biventricular circulation at birth. View Abstract
When ultrasound anomalies are present: An estimation of the frequency of chromosome abnormalities not detected by cell-free DNA aneuploidy screens. View Abstract
Myocardial injury in fetal aortic stenosis: Insights from amniotic fluid analysis. View Abstract
Should embryos with autosomal monosomy by preimplantation genetic testing for aneuploidy be transferred?: Implications for embryo selection from a systematic literature review of autosomal monosomy survivors. View Abstract
Communicating risk with aneuploidy screening: things are never as simple as they appear to be. View Abstract
The influence of noninvasive prenatal testing on gestational age at time of abortion for aneuploidy. View Abstract
Antepartum management and obstetric outcomes among pregnancies with Down syndrome from diagnosis to delivery. View Abstract
Sex chromosome aneuploidy detection by noninvasive prenatal testing: helpful or hazardous? View Abstract
Confined placental mosaicism for 22q11.2 deletion as the etiology for discordant positive NIPT results. View Abstract
Sonographic Pulmonary Abnormalities in Fetuses With Hypoplastic Left Heart Syndrome and Intact Atrial Septum Undergoing Attempted Atrial Septostomy In Utero. View Abstract
Neurodevelopmental Outcome in Children after Fetal Cardiac Intervention for Aortic Stenosis with Evolving Hypoplastic Left Heart Syndrome. View Abstract
Structural Chromosomal Rearrangements Require Nucleotide-Level Resolution: Lessons from Next-Generation Sequencing in Prenatal Diagnosis. View Abstract
Patient choice and clinical outcomes following positive noninvasive prenatal screening for aneuploidy with cell-free DNA (cfDNA). View Abstract
Percutaneous umbilical blood sampling: current trends and outcomes. View Abstract
What is the role of the 11- to 14-week ultrasound in women with negative cell-free DNA screening for aneuploidy? View Abstract
A Multi-State Analysis of Early-Term Delivery Trends and the Association With Term Stillbirth. View Abstract
Obstetrician and gynecologists' population-based screening practices. View Abstract
International Fetal Cardiac Intervention Registry: A Worldwide Collaborative Description and Preliminary Outcomes. View Abstract
Noninvasive Prenatal Testing and Incidental Detection of Occult Maternal Malignancies. View Abstract
The effect of mode of conception on obstetrical outcomes differs by body mass index. View Abstract
Recognition by Women's Health Care Providers of Long-Term Cardiovascular Disease Risk After Preeclampsia. View Abstract
The North American Fetal Therapy Network Consensus Statement: prenatal management of uncomplicated monochorionic gestations. View Abstract
Angiogenic markers in pregnancies conceived through in vitro fertilization. View Abstract
Recurrent enlarged nuchal translucency: first trimester presentation of a familial 15q26?qter deletion. View Abstract
Comparison of genome-wide and gene-specific DNA methylation between ART and naturally conceived pregnancies. View Abstract
Current controversies in prenatal diagnosis 4: pre-conception expanded carrier screening should replace all current prenatal screening for specific single gene disorders. View Abstract
The North American Fetal Therapy Network consensus statement: prenatal surveillance of uncomplicated monochorionic gestations. View Abstract
Detection of triploid, molar, and vanishing twin pregnancies by a single-nucleotide polymorphism-based noninvasive prenatal test. View Abstract
Fetal aortic valvuloplasty for evolving hypoplastic left heart syndrome: postnatal outcomes of the first 100 patients. View Abstract
Consensus expert recommendations for the diagnosis and management of autosomal recessive polycystic kidney disease: report of an international conference. View Abstract
Percutaneous fetal cardiac interventions for structural heart disease. View Abstract
Does the addition of a specialized postpartum clinic improve the care of women with preeclampsia? View Abstract
Technical challenges of atrial septal stent placement in fetuses with hypoplastic left heart syndrome and intact atrial septum. View Abstract
The association of body mass index with serum angiogenic markers in normal and abnormal pregnancies. View Abstract
Management of a Woman With Maple Syrup Urine Disease During Pregnancy, Delivery, and Lactation. View Abstract
Eliminating first trimester markers: will replacing PAPP-A and ßhCG miss women at risk for small for gestational age? View Abstract
The effect of obstetric practice change to reduce early term delivery on perinatal outcome. View Abstract
Obstetricians and gynecologists' practice and opinions of expanded carrier testing and noninvasive prenatal testing. View Abstract
Review: cell-free fetal DNA in the maternal circulation as an indication of placental health and disease. View Abstract
Absent fetal nasal bone: what does it mean for the euploid fetus? View Abstract
Integration of noninvasive DNA testing for aneuploidy into prenatal care: what has happened since the rubber met the road? View Abstract
Maternal plasma DNA testing for aneuploidy in pregnancies achieved by assisted reproductive technologies. View Abstract
Hyperreactio luteinalis (enlarged ovaries) during the second and third trimesters of pregnancy: common clinical associations. View Abstract
First trimester PAPP-A levels correlate with sFlt-1 levels longitudinally in pregnant women with and without preeclampsia. View Abstract
Clinical diagnosis by whole-genome sequencing of a prenatal sample. View Abstract
Does the ex utero intrapartum treatment to extracorporeal membrane oxygenation procedure change outcomes for high-risk patients with congenital diaphragmatic hernia? View Abstract
Self-reported alcohol and drug use in pregnant young women: a pilot study of associated factors and identification. View Abstract
Postnatal left ventricular diastolic function after fetal aortic valvuloplasty. View Abstract
2010 Report from the ISPD Special Interest Group fetal therapy: fetal cardiac interventions. View Abstract
Aortic stenosis and severe mitral regurgitation in the fetus resulting in giant left atrium and hydrops: pathophysiology, outcomes, and preliminary experience with pre-natal cardiac intervention. View Abstract
Assessment of left ventricular endocardial fibroelastosis in fetuses with aortic stenosis and evolving hypoplastic left heart syndrome. View Abstract
Contemporary management of monochorionic diamniotic twins: outcomes and delivery recommendations revisited. View Abstract
Cerebral blood flow characteristics and biometry in fetuses undergoing prenatal intervention for aortic stenosis with evolving hypoplastic left heart syndrome. View Abstract
Reversible ductus arteriosus constriction due to maternal indomethacin after fetal intervention for hypoplastic left heart syndrome with intact/restrictive atrial septum. View Abstract
Use of array comparative genomic hybridization for prenatal diagnosis of fetuses with sonographic anomalies and normal metaphase karyotype. View Abstract
Optical properties of human amniotic fluid: implications for videofetoscopic surgery. View Abstract
Predictors of technical success and postnatal biventricular outcome after in utero aortic valvuloplasty for aortic stenosis with evolving hypoplastic left heart syndrome. View Abstract
In utero valvuloplasty for pulmonary atresia with hypoplastic right ventricle: techniques and outcomes. View Abstract
Outcome of fetuses with a prenatal ultrasound diagnosis of isolated omphalocele. View Abstract
Epigenetics and assisted reproduction. View Abstract
Identifying risk drinking in expectant fathers. View Abstract
Confined placental mosaicism as a risk factor among newborns with fetal growth restriction. View Abstract
Alcohol use by pregnant women: partners, knowledge, and other predictors. View Abstract
Fetal fatty acid oxidation defects and maternal liver disease in pregnancy. View Abstract
Social support and prenatal alcohol use. View Abstract
Risk during pregnancy--self-report versus medical record. View Abstract
In-utero intervention for hypoplastic left heart syndrome--a perinatologist's perspective. View Abstract
Aortic valvuloplasty in the fetus: technical characteristics of successful balloon dilation. View Abstract
Brief intervention for prenatal alcohol use: a randomized trial. View Abstract
Fetal surgery in otolaryngology: a new era in the diagnosis and management of fetal airway obstruction because of advances in prenatal imaging. View Abstract
Balloon dilation of severe aortic stenosis in the fetus: potential for prevention of hypoplastic left heart syndrome: candidate selection, technique, and results of successful intervention. View Abstract
Expectant management in spontaneous preterm premature rupture of membranes between 14 and 24 weeks' gestation. View Abstract
Creation of an atrial septal defect in utero for fetuses with hypoplastic left heart syndrome and intact or highly restrictive atrial septum. View Abstract
Fetuses subsequently born premature are smaller than gestational age-matched fetuses not born premature. View Abstract
GPC3 mutation analysis in a spectrum of patients with overgrowth expands the phenotype of Simpson-Golabi-Behmel syndrome. View Abstract
Chemotherapy for a patient with advanced non-small-cell lung cancer during pregnancy: a case report and a review of chemotherapy treatment during pregnancy. View Abstract
Obstetrician-gynecologists' opinions and attitudes on the role of genetics in women's health. View Abstract
Separation of conjoined twins with the twin reversed-arterial-perfusion sequence after prenatal planning with three-dimensional modeling. View Abstract
A brief intervention for prenatal alcohol use: an in-depth look. View Abstract
Gynecologists' training, knowledge, and experiences in genetics: a survey. View Abstract
Brief intervention for alcohol use in pregnancy: a randomized trial. View Abstract
Prenatal alcohol consumption. Self versus collateral report. View Abstract
Considerations for delivery of infants with congenital abnormalities. View Abstract
The TWEAK: application in a prenatal setting. View Abstract
Genetics in obstetricians' offices: a survey study. View Abstract
Unexplained elevated maternal serum alpha-fetoprotein: what is the appropriate follow-up? View Abstract
Alcohol use and pregnancy: improving identification. View Abstract
Pregnant women with negative alcohol screens do drink less. A prospective study. View Abstract
Cost-effectiveness of strategies used in the evaluation of pregnancies complicated by elevated maternal serum alpha-fetoprotein levels. View Abstract
Oligospermic men: the role of karyotype analysis prior to intracytoplasmic sperm injection. View Abstract
The association of early-onset fetal growth restriction, elevated maternal serum alpha-fetoprotein, and the development of severe pre-eclampsia. View Abstract