Congenital, Hereditary, and Neonatal Diseases and Abnormalities Commons^™

The Case Of A Pain-Ridden Pregnancy In A Woman With Sickle Cell Disease, Katie Riffle, Linda Haddox

Central & West Texas and San Antonio GME Research Day 2026

No abstract provided.

Consecutive Offspring With Major Midline Anomalies In The Setting Of Maternal Spastic Diplegia And A Wes-Identified Genetic Mutation, Kaitlyn Vu, Lillian Fagan, Alison Macleod, Anthony Royek

South Atlantic Division GME Research Days 2026

No abstract provided.

Maternal Cleidocranial Dysplasia – An Exceptionally Rare Skeletal Syndrome With Clinical Implications, Abigail Haythorn, Katherine Cuadrado, Anthony Royek

South Atlantic Division GME Research Days 2026

No abstract provided.

Fetal Trisomy 9 In The Setting Of Low Risk Nipt Aneuploidy Screening, Andrew Royek, Shea Mcgrinder, Lauren Boyle, Anthony Royek

South Atlantic Division GME Research Days 2026

No abstract provided.

Volatile Anesthetic Exposure During Organogenesis (Weeks 6-9): Implications For Fetal Brain Development, Cheryce Daniel, Kylon Coombs

Rowan-Virtua Research Day

Organogenesis, particularly during gestational weeks 6 through 9, represent a critical window for fetal brain development. During this period, neurogenesis, neural tube closure and synaptic organization are actively occurring. Disruption of these processes, especially from exogenous agents, can result in lasting developmental consequences.

The U.S Food and Drug Administration has issued warnings regarding the use of anesthetic agents such as isoflurane, sevoflurane, and desflurane. Noting the potential risk of neurotoxic effects on the developing brain. This warning is particularly highlighted when administered drugs are present for long periods of time or during repeated procedures. The goal of this literature review …

Chemical Exposures In Utero: Phthalates And Congenital Heart Defects, Demi Poulathas

Rowan-Virtua Research Day

Background: Congenital heart defects (CHDs) are the most common type of birth defect. Approximately 80% of CHDs have unknown causes, and phthalates may play a contributing role. Phthalates are ubiquitous environmental chemicals used as plasticizers in a wide range of products, including cosmetics and electronic devices. After entering the body, phthalates bind to the progesterone receptor, which is necessary for fetal development. While multiple studies have explored environmental factors in CHD development, few have examined the effects of phthalates on CHDs in humans. Methods: A literature review was conducted to investigate the relationship between parental occupational phthalate exposure and the …

Effectiveness Of Intrapartum Azithromycin To Prevent Infections In Planned Vaginal Births In Low-Income And Middle-Income Countries: A Post-Hoc Analysis Of Data From A Multicentre, Randomised, Double-Blind Placebo-Controlled Trial, Waldemar A. Carlo, Alan T.N. Tita, Janet L. Moore, Musaku Mwenechanya, Elwyn Chomba, Jennifer J. Hemingway-Foday, Avinash Kavi, Mrityunjay C. Metgud, Shivaprasad S. Goudar, Richard J. Derman, Adrien Lokangaka, Antoinette Tshefu, Melissa Bauserman, Jackie K. Patterson, Poonam Shivkumar, Manju Waikar, Archana Patel, Patricia L. Hibberd, Paul Nyongesa, Fabian Esamai, Osayame Austine Ekhaguere, Sherri Bucher, Saleem Jessani, Shiyam Sunder Tikmani, Sarah Saleem, Robert L. Goldenberg, Sk Masum Billah, Ruth Lennox, Rashidul Haque, William Petri, Manolo Mazariegos, Nancy F. Krebs, Denise C. Babineau, Elizabeth M. Mcclure, Marion Koso-Thomas, A-Plus Trial Group

Global Health Articles

Background

In 2023, the Azithromycin Prevention in Labor Use (A-PLUS) trial showed intrapartum azithromycin reduces maternal sepsis or death in women with planned vaginal delivery in low-resource settings, but whether it reduces maternal infection is unknown. We aimed to evaluate the effectiveness of intrapartum azithromycin in reducing maternal infection.

Methods

We performed a post-hoc analysis of the multicentre, facility-based, randomised, double-blind, placebo-controlled A-PLUS trial. This trial compared prophylactic intrapartum single oral dose of 2 g azithromycin versus placebo on maternal morbidity and mortality in low-resource settings in southeast Asia and Africa from Sept 9, 2020, to Aug 18, 2022. The …

Congenital Rickets, Melissa Intriago

Mako: NSU Undergraduate Student Journal

No abstract provided.

A Case Of Life Threatening Hemorrhage After In Office Drainage Of Suspected Bartholin Gland Cyst, Rebecca Johnson, Sandra Zhi, Megan Khuu, Robert Boccaccio

North Texas Research Forum 2025

Introduction: Labial masses are common in OBGYN clinics. They are benign the vast majority of times. Common causes are Bartholin cysts, epidermal inclusion cysts, labial warts, sebaceous cyst. We report a case of a 33 year old who presented for what appeared to be a benign Bartholin gland cyst but resulted in massive hemorrhage, exam under anesthesia, massive transfusion, and embolization. Case Summary: A 33 year old patient presents for a painless, non-enlarging labial mass that has been present for 3 weeks. History and physical exam were consistent with a commonly encountered condition, Bartholin gland cyst. Routine incision and drainage …

Pregnancy Management In A Patient With Branchio-Oto-Renal Syndrome And A History Of Renal Transplant, Lilly Mcincrow, Sara Hitt, Nanette Woodward, Anthony B. Royek

South Atlantic Division GME Research Day 2025

No abstract provided.

Investigating The Link Between Preeclampsia/Eclampsia In Mothers And Cardiovascular Risk Among Their Neurodivergent Children, Jasmine Emanuel, Andrea Iannuzzelli, Venkateswar Venkataraman

Rowan-Virtua Research Day

Preeclampsia/Eclampsia are common gestational conditions among pregnant women. These individuals have hypertension after 20 weeks of gestation, proteinuria/end-stage organ disease, and may have seizures. These conditions can put the mother and fetus at risk.^1,2 A review of literature investigates whether an association exists between congenital heart defects (CHD), and maternal preeclampsia/eclampsia in the neurotypical and neurodivergent population. The Rowan-Virtua Regional Integrated Special Needs (RISN) Center patient population was used to investigate whether maternal preeclampsia/eclampsia is indicative of higher congenital heart disease (CHD) in their neurodivergent children to achieve better quality of care. As a first step towards exploring the …

Sequestering The Diagnosis Of Extra Lobar Bronchopulmonary Sequestration: A Case Report, Tanner Fincher, Reese M. Groover, Amanda Royek

South Atlantic Division GME Research Day 2024

No abstract provided.

Nas Associated With Antenatal Tianeptine Exposure: A Case Report, Francesca Damus, Kaleb Freeman, Candace Murbach, Palmer Johnston

South Atlantic Division GME Research Day 2024

No abstract provided.

Biallelic Inheritance Of Autosomal Dominant Polycystic Kidney Disease Gene Mutations And The Veo Spectrum Of Fetal And Neonatal Phenotypes: A Case Series, Mikalah Maury, Caitlin Turner, Andrew Royek, Eleanor Stark, Leyla Nielsen, Anthony Royek

South Atlantic Division GME Research Day 2024

No abstract provided.

Type Iv Ehlers-Danlos Syndrome And A Fragile Uterus, Alyssa M. Moffitt, Cullen D. Smith, Alicia Farris, William Osborne, Anthony Royek

South Atlantic Division GME Research Day 2024

No abstract provided.

Pseudohypoparathyroidism During Pregnancy: A Rare Disease With Significant Diagnostic, Clinical And Hereditary Consequences For Mother And Neonate, Sara J. Hitt, Claire Mccarthy, Renee Ricci, Bethany Bowling, Anthony Royek

South Atlantic Division GME Research Day 2024

No abstract provided.

In Utero Presentation Of Cri-Du-Chat Syndrome, Sara Hitt, Claire Mccarthy, Reese Groover, Erika Olsen, Anthony Royek

South Atlantic Division GME Research Day 2024

No abstract provided.

Trio-Based Gwas Identifies Novel Associations And Subtype-Specific Risk Factors For Cleft Palate, Kelsey Robinson, Trenell J Mosley, Kenneth S Rivera-González, Christopher R Jabbarpour, Sarah W Curtis, Wasiu Lanre Adeyemo, Terri H Beaty, Azeez Butali, Carmen J Buxó, David J Cutler, Michael P Epstein, Lord J J Gowans, Jacqueline T Hecht, Jeffrey C Murray, Gary M Shaw, Lina Moreno Uribe, Seth M Weinberg, Harrison Brand, Mary L Marazita, Robert J Lipinski, Elizabeth J Leslie

Faculty, Staff and Student Publications

Cleft palate (CP) is one of the most common craniofacial birth defects; however, there are relatively few established genetic risk factors associated with its occurrence despite high heritability. Historically, CP has been studied as a single phenotype, although it manifests across a spectrum of defects involving the hard and/or soft palate. We performed a genome-wide association study using transmission disequilibrium tests of 435 case-parent trios to evaluate broad risks for any cleft palate (ACP) (n = 435), and subtype-specific risks for any cleft soft palate (CSP), (n = 259) and any cleft hard palate (CHP) (n = 125). We identified …

The Effects Of Prenatal Buprenorphine Exposure On The Neurobehavioral Development Of The Child, Zaineb Zubair, Maryam Zubair, Juan Alonso, Abdullah Zubair

Rowan-Virtua Research Day

Background: Current guidelines for pregnant women with substance use disorder advise prenatal maintenance of opioid agonist therapy with either buprenorphine or methadone. Despite this rise in prenatal opioid agonist therapy, little is known about the effect of prenatal buprenorphine on the neurobehavioral development of the child. This poses the question: does buprenorphine have a long-lasting effect on the central and peripheral nervous system development and behavior of children who were exposed prenatally?

Methods: A comprehensive literature review identified articles relating to prenatal buprenorphine and neurobehavioral outcomes. Article searches were conducted on PubMed and Dynamed. Publications from 2002 through November 2021 …

Is There An Association Between Preeclampsia/Eclampsia And Congenital Heart Disease Among The Neurodivergent Population?, Jasmine Emanuel, Venkateswar Venkataraman, Jennifer Lecomte, Andrea Iannuzzelli

Rowan-Virtua Research Day

Preeclampsia and eclampsia are very common gestational conditions among pregnant individuals worldwide. These individuals are diagnosed with high blood pressure (after 20 weeks of gestation), proteinuria/end-stage organ disease, and may include seizures. These conditions can put the mother and fetus at risk. A review of literature has shown that there is an association between cardiovascular defects among the neurodivergent population, where these individuals have a higher risk of developing atrial septal defects and ventricular septal defects. The Rowan-Virtua Integrated Special Needs (RISN) Center patient population will be used to investigate whether preeclampsia/eclampsia in mothers is indicative of higher congenital heart …

Case Report: Uterine Torsion – A Rare Cause Of Right Lower Quadrant Pain, David Ho, James Jung Lee, James Espinosa

Rowan-Virtua Research Day

Uterine torsions are very rare. In an article by Matsumoto et al published in 2021, only 25 cases have been documented on PubMed in non-gravid females in the past 20 years. Uterine torsion is defined as rotation of the uterus greater than 45 degrees in the long axis. Rotation can occur anywhere between 45 degrees to 180 degrees. The torsion can be due to a congenital anomaly or an obstetrics emergency such as with an ovarian torsion. Uterine torsions presenting as an obstetrics emergency carries the potential for irreversible ischemic damage to the uterus, and just as in ovarian torsion, …

Perceived Utility Of Genetic Carrier Screening In A Diverse Patient Population, Jack A. Colleran

Dissertations and Theses (Open Access)

Carrier screening assesses whether an individual may carry variants in select genes associated with autosomal recessive and X-linked inheritance. Recent American College of Medical Geneticists (ACMG) guidelines call for utilization of expanded screening that analyzes carrier status for up to hundreds of conditions. In these guidelines, clinical utility is based on alterations to reproductive decision-making. However, clinical utility study cohorts cited by these guidelines were largely white, highly educated, of high income, and were often receiving preconception counseling. There is a lack of research on the perspectives of patients from diverse backgrounds, whose perceptions may be more reflective of those …

Factor Vii Deficiency And Second Trimester Abortion: A Case Report, Katie P. Nguyen, Tamara Lynne B. Aqui, Honey Milestone

Far West Division GME Research Day 2023

No abstract provided.

Maternal Mirror Syndrome As A Consequence Of Fetal Sacrococcygeal Teratoma: A Case Report And Literature Review, Ali Farris, Andrew Royek, Kaitlyn Dorsey

South Atlantic Division GME Research Day 2023

No abstract provided.

Inotropic Score And Vasoactive Inotropic Score As Predictors Of Outcomes In Congenital Diaphragmatic Hernia: A Single Center Retrospective Study, Srirupa Hari Gopal, Cynthia L Toy, Morcos Hanna, Betul Yilmaz Furtun, Joseph L Hagan, Ahmed A Nassr, Caraciolo J Fernandes, Sundeep Keswani, Sharada H Gowda

Faculty, Staff and Students Publications

BACKGROUND: Neonates with congenital diaphragmatic hernia (CDH) have varying degrees of pulmonary hypoplasia, pulmonary hypertension (PH) and cardiac dysfunction. These neonates frequently require vasoactive support and are at high risk for mortality and morbidity, including prolonged ventilator support, need for extracorporeal membrane oxygenation (ECMO), prolonged length of stay, and need for tracheostomy. However, identifying which infants are at increased risk can be challenging. In this study, we sought to investigate the utility of the inotropic score (IS) and vasoactive inotropic score (VIS) as tools to predict significant clinical outcomes and overall survival in patients with CDH. Additionally, we evaluated the …

Paradoxical Dat In A Term Newborn With Physiological Jaundice, Abiram Sivanandam, Tomas Rotschild

Rowan-Virtua Research Day

The Direct Antigen Test (DAT) is used to find out if a newborn has maternally-produced antibodies against the newborn’s red blood cells. We discuss the case of a term newborn male with an O+ blood type born to a mother whose blood type is A+. As a part of routine screening, DAT of umbilical cord blood was obtained, which resulted positive. While the neonate had jaundice, the overall clinical picture pointed more toward neonatal physiological jaundice rather than a potential hemolytic anemia expected with a positive DAT. This discrepancy prompted us to review literature to explain our findings.

Impact Evaluation Of The Efficacy Of Different Doses Of Vitamin D Supplementation During Pregnancy On Pregnancy And Birth Outcomes: A Randomised, Controlled, Dose Comparison Trial In Pakistan, Sidrah Nausheen, Atif Habib, Maria Asif Bhura, Arjumand Rizvi, Fariha Shaheen, Kehkashan Begum, Junaid Iqbal, Shabina Ariff, Lumaan Sheikh, Syed Shamim Raza, Sajid Bashir Soofi

Department of Obstetrics & Gynaecology

Background: Vitamin D deficiency during pregnancy is a public health problem in Pakistan and is prevalent among most women of reproductive age in the country. Vitamin D supplementation during pregnancy is suggested to prevent adverse pregnancy outcomes and vitamin D deficiency in both the mother and her newborn.
Methods: We conducted a double-blinded, randomised controlled trial in Karachi, Pakistan to evaluate the effect of different doses of vitamin D supplementation during pregnancy on biochemical markers (serum 25(OH)D, calcium, phosphorus and alkaline phosphatase) in women and neonates, and on pregnancy and birth outcomes (gestational diabetes, pre-eclampsia, low birth weight, preterm births …

Ethnic Differences In Maternal Cytokines And Adipokines And Their Association With Spontaneous Preterm Delivery, Yelizavet D. Lomakova, Xinhua Chen

Rowan-Virtua Research Day

Spontaneous preterm delivery (SPTD, birth at <37 weeks’ gestation) is a leading cause of infant mortality in the United States [1]. Infants born prematurely are more likely to suffer from both short and long-term complications including neurodevelopmental delay, visual and hearing impairment, and chronic diseases such as heart disease, hypertension and diabetes in later life [2-4]. African American women have a 2-fold increased risk of preterm delivery compared to Caucasian women [5].The reasons for this disparity are poorly understood. This limits the ability to predict and prevent preterm delivery in the most high-risk populations.

Managing May-Thurner Syndrome And Associated Complications Throughout Pregnancy And Postpartum, Jessica A. Young, Stephen Zweibach, Nicole L. Plenty, Tiffany Tonismae

OB-GYN

No abstract provided.

Frequency And Outcome Of Meconium Aspiration Syndrome In Babies Born With Meconium-Stained Liquor At Secondary Care Hospital In Pakistan: A Case Series Study, Abdul Moeed, Heeramani Lohana, Sarwat Urooj, Sheraz Ahmed, Khalil Ahmed, Khadija N Humayun

Department of Paediatrics and Child Health

Background: Meconium aspiration syndrome (MAS) in the newborn is characterized by hypoxia, hypercapnia, and acidosis. MAS is a leading cause of morbidity and mortality in neonates. The primary objective of this study was to estimate the frequency of meconium aspiration syndrome (MAP) in babies born with meconium-stained liquor. The secondary outcome was to estimate the meconium aspiration syndrome; in terms of hospital stay, complications, and mortality.
Methods: The study was done at Aga Khan Maternal and Child Care Centre, Hyderabad, Pakistan. Study design was case series and the duration of the study was of 6 months. All patients who fulfilled …