Maternal and Child Health Commons^™

International Society For Prenatal Diagnosis 2022 Debate 3-Fetal Genome Sequencing Should Be Offered To All Pregnant Patients, Ignatia B Van Den Veyver, Yuval Yaron, Zandra C Deans

Center for Medical Ethics and Health Policy Staff Publications

Prenatal trio exome sequencing (ES) has become integrated into the care for pregnant women when the fetus has structural anomalies. Details regarding optimizing indications for prenatal exome sequencing, its detection rates with different categories of fetal anomalies, and principles of interpretation of pathogenicity of sequence variants are still under investigation. However, there is now growing consensus about its benefits for finding the cause of fetal structural anomalies. What is not established, is whether exome or genome sequencing (GS) has a place in the care of all pregnant women. This report is a summary of the debate on this topic at …

The Intersectionality Of Race And Rurality In Polysubstance Use During Pregnancy In The United States: A Study Of National Survey On Drug Use And Health, Sophia Tavakol

Senior Theses

Importance: Though detrimental consequences, many pregnant individuals are still binging alcohol, smoking, and/or using illicit drug. Yet, little is known regarding variations in such behaviors across pregnant people in the United States.

Objective: To examine alcohol, tobacco, and drug use during pregnancy in 2015-2020 and assess their racial, ethnic, and rural disparities.

Design: This cross-sectional descriptive study derived maternal characteristics and self-reported prenatal substance use data from 2015 and 2020 National Survey on Drug Use and Health, considering the complex sampling weight per participant per year produced by NSDUH.

Setting: United States.

Participants: A scientific random sample of non-institutionalized residents …

Long-Term Maternal Metabolic And Cardiovascular Phenotypes After A Pregnancy Complicated By Mild Gestational Diabetes Mellitus Or Obesity, Ashley N Battarbee, Lisa Mele, Mark B Landon, Michael W Varner, Brian M Casey, Uma M Reddy, Ronald J Wapner, Dwight J Rouse, John M Thorp, Edward K Chien, George Saade, Beth A Plunkett, Sean C Blackwell

Faculty, Staff and Student Publications

Objective:

To evaluate the association of mild gestational diabetes (GDM) and obesity with metabolic and cardiovascular markers 5-10 years after pregnancy.

Study Design:

This was a secondary analysis of 5-10 year follow-up study of a mild GDM treatment trial and concurrent observational cohort of participants ineligible for the trial with abnormal 1-hour glucose challenge test only. Participants with 2-hour glucose tolerance test at follow-up were included. The primary exposures were mild GDM and obesity. The outcomes were insulinogenic index (IGI), 1/HOMA-IR, and cardiovascular markers VEGF, VCAM-1, CD40L, GDF-15, and ST-2. Multivariable linear regression estimated the association of GDM and obesity …

Renal-Hepatic-Pancreatic Dysplasia Type 2: Perinatal Lethal Condition Or A Multisystemic Disorder With Variable Expressivity, Kathryn Gunther, Essam M Imseis, Joyce P Samuel, Elizabeth A Hillman, Tiina H Ojala, Timo Jahnukainen, Paul R Hillman

Faculty, Staff and Student Publications

BACKGROUND: Renal-hepatic-pancreatic dysplasia type 2 (RHPD2) is a rare condition that has been described in the literature disproportionately in perinatal losses. The main features of liver and kidney involvement are well described, with cardiac malformations and cardiomyopathy adding additional variation to the phenotype. Many patients reported are within larger cohorts of congenital anomalies of kidney and urinary tract (CAKUT) or liver failure, and with minimal phenotypic and clinical course data.

METHODS: An independent series of phenotypes and prognosis was aggregated from the literature. In this literature review, we describe an additional patient with RHPD2, provide a clinical update on the …

Short-Term Neonatal Outcomes Of Pregnancies Complicated By Maternal Obesity, Mara J Dinsmoor, Lynda G Ugwu, Jennifer L Bailit, Uma M Reddy, Ronald J Wapner, Michael W Varner, John M Thorp, Steve N Caritis, Mona Prasad, Alan T N Tita, George R Saade, Yoram Sorokin, Dwight J Rouse, Sean C Blackwell, Jorge E Tolosa, Eunice Kennedy Shriver National Institute Of Child Health And Human Development Maternal-Fetal Medicine Units (Mfmu) Network

Faculty, Staff and Student Publications

BACKGROUND: Maternal obesity complicates a high number of pregnancies. The degree to which neonatal outcomes are adversely affected is unclear.

OBJECTIVE: This study aimed to evaluate neonatal outcomes of pregnancies complicated by maternal obesity.

STUDY DESIGN: This study was a secondary analysis of a cohort of deliveries occurring on randomly selected days at 25 hospitals from 2008 to 2011. Data were collected by certified abstractors. This analysis included singleton deliveries between 24 and 42 weeks of gestation. Body mass index was calculated on the basis of maternal height and most recent weight before delivery. Normal and overweight (reference group; body …

The Association Of Smoking And Coffee Consumption With Occurrence Of Upper Gastrointestinal Symptoms In Patients With Active Helicobacter Pylori Infection In Jazan City: A Cross-Sectional Study, Anna Palatnik, Paula Mcgee, Jennifer L Bailit, Ronald J Wapner, Michael W Varner, John M Thorp, Steve N Caritis, Mona Prasad, Alan T N Tita, George R Saade, Dwight J Rouse, Sean C Blackwell, Eunice Kennedy Shriver National Institute Of Child Health And Human Development Maternal-Fetal Medicine Units (Mfmu) Networ

Faculty, Staff and Student Publications

Objective:

To examine whether there are racial disparities in severe maternal morbidity in patients with hypertensive disorder of pregnancy (HDP).

Study Design:

Secondary analysis of an observational study of 115,502 patients who had a live birth at ≥ 20 weeks in 25 hospitals in the US from 2008 to 2011. Only patients with HDP were included in this analysis. Race and ethnicity were categorized as non-Hispanic White, non-Hispanic Black and Hispanic and were abstracted from the medical charts. Patients of other races and ethnicities were excluded. Associations were estimated between race and ethnicity and the primary outcome of severe maternal …

Evaluation Of A Portable Gynecological Examination Table On Increasing Access To Cervical Cancer Screenings, Brennan Burrows, Giuliana Motta, Vibhasri Davuluri, Urvee Deo, Aman Tahir, Brindha Rajakumar, Jacob Blumenstein, Eliza Steinberg, Mariam Tobia, Asmita Tuladhar, Abigail Ahn

Medical Student Research Symposium

Introduction: Cervical cancer is a preventable disease affecting millions of women worldwide, with higher prevalence and mortality in developing countries. One explanation of this disparity is due to reduced access to screenings, especially in rural communities where mobile health clinics are limited by what medical equipment they can bring. To address these barriers, an engineering team called Project MESA (Making Examinations Safe and Accessible) designed a gynecological examination table that is portable, lightweight, and easily sanitizable.

Objective: This study aims to (1) evaluate whether the implementation of this device improves the clinician’s ability to perform pap smears as opposed to …

Effects Of Armed Conflict On Maternal And Infant Health: A Case Study Of Armenia And The 2020 Nagorno-Karabakh War, Lara Rostomian

Medical Student Research Symposium

Introduction: Armed conflict is a major cause of ill health and mortality which disproportionately impacts women and children. The 2020 War between Armenia and Azerbaijan over the territory of Nagorno-Karabakh occupied by ethnically Armenian population, provides an example of how conflict impacted health during COVID-19. We hypothesize that exposure to crises will correspond to decreased healthcare utilization rates and worse health outcomes of the maternal and infant population in Armenia, and that these trends will be compounded during the pandemic period.

Methods: Following a historic case study approach, we used ecological level data from 1980-2020 to evaluate trends in battle …

What Is The Effect Of Opioid Use During Pregnancy On Infant Health And Wellbeing At Birth?, Jessica Pac, Christine Durrance, Lawrence Berger, Deborah Ehrenthal

Population Health Research Brief Series

The opioid epidemic has severe consequences for pregnant women and their infants. Opioid use during pregnancy increases the risk of numerous poor outcomes at birth, including Neonatal Abstinence Syndrome (NAS), preterm birth, and low birth weight. Opioid use during pregnancy can also lead to child protective services reports and foster care entry. This brief summarizes the findings from a recent study that used linked administrative data from Wisconsin from 2010-2019 and child protective service reports to evaluate the effects of exposure to prescription and illicit opioids during pregnancy on infant health and wellbeing at birth.

How Has The Opioid Overdose Crisis Affected Child Maltreatment In The U.S.?, Alexander Chapman

Population Health Research Brief Series

This brief summarizes results from a study examining the association between U.S. county-level opioid mortality rates and child maltreatment rates from 2007 to 2017. Places with higher opioid overdose mortality rates have higher rates of child maltreatment. Poverty makes this problem worse - where the proportion of families in poverty increases, the association between fatal opioid overdose rates and child maltreatment also increases. Findings suggest that intervening in opioid use by reducing poverty has the potential to markedly decrease the incidence of child maltreatment.

Accuracy Of The Drug-Dependency Checkbox On The Maine Birth Certificate For Medicaid-Covered Births, 2016-2020, Julia Dudley Ba, Catherine Mcguire Bs, Apsara Kumarage Ba, Chinonye Anumaka Mph, Katherine Ahrens Phd

Journal of Maine Medical Center

Introduction: The accuracy of the drug-dependency checkbox on Maine birth certificates is unknown. Our objective was to compare the drug-dependency checkbox with information on substance use disorders (SUDs) documented in Medicaid claims.

Methods: Using rule-based deterministic matching, we linked Medicaid enrollment information to Maine birth-record data between 2016 and 2020 (N = 58 584). Among the linked records (n = 27 448), we identified maternal SUD diagnoses during the 280 days before through 7 days after delivery using ICD-CM-9/10 diagnosis codes. We used the following hierarchy to create mutually exclusive SUD categories: opioid use disorder (OUD), cannabis use disorder without …

Role Of Biomarkers (Sflt-1/Plgf) In Cases Of Covid-19 For Distinguishing Preeclampsia And Guiding Clinical Management, Guilherme M Nobrega, Jose P Guida, Juliana M Novaes, Larissa M Solda, Luciana Pietro, Adriana G Luz, Giuliane J Lajos, Carolina C Ribeiro-Do-Valle, Renato T Souza, Jose G Cecatti, Indira U Mysorekar, Tabata Z Dias, Maria Laura Costa

Faculty, Staff and Students Publications

OBJECTIVES: To analyze soluble fms-like tyrosine kinase 1 (sFlt-1) and placental growth factors (PlGF) concentrations and their ratio in pregnant and postpartum women with suspected COVID-19, and further investigate conditions associated with an increased ratio (sFlt-1/PlGF > 38), including preeclampsia (PE) and severe acute respiratory syndrome (SARS).

STUDY DESIGN: The present study is a secondary analysis of a prospective cohort. Blood samples were collected at time of COVID-19 investigation and the serum measurements of sFlt-1 and PlGF were performed. Clinical background, SARS-CoV-2 infection characteristics, maternal and perinatal outcomes were further analyzed.

MAIN OUTCOME MEASURES: Serum measurements of sFlt-1 and PlGF; obstetrics …

A National, Electronic Health Record-Based Study Of Perinatal Hemorrhagic And Ischemic Stroke, Stuart Fraser, Samantha M Levy, Yashar Talebi, Sean I Savitz, Alicia Zha, Gen Zhu, Hulin Wu

Faculty, Staff and Student Publications

BACKGROUND: Perinatal stroke occurs in approximately 1 in 1100 live births. Large electronic health record (EHR) data can provide information on exposures associated with perinatal stroke in a larger number of patients than is achievable through traditional clinical studies. The objective of this study is to assess prevalence and odds ratios of known and theorized comorbidities with perinatal ischemic and hemorrhagic stroke.

METHODS: The data for patients aged 0-28 days with a diagnosis of either ischemic or hemorrhagic stroke were extracted from the Cerner Health Facts Electronic Medical Record (EMR) database. Incidence of birth demographics and perinatal complications were recorded. …

Racial And Ethnic Disparities In Acute Care Utilization Among Patients With Glomerular Disease, Jill R Krissberg, Michelle M O'Shaughnessy, Abigail R Smith, Margaret E Helmuth, Salem Almaani, Diego H Aviles, Kaye E Brathwaite, Yi Cai, Daniel Cattran, Rasheed Gbadegesin, Dorey A Glenn, Larry A Greenbaum, Sandra Iragorri, Koyal Jain, Myda Khalid, Jason Kidd, Jeffrey Kopp, Richard Lafayette, Jerome C Lane, Francesca Lugani, Jordan G Nestor, Rulan S Parekh, Kimberly Reidy, David T Selewski, Christine B Sethna, C John Sperati, Katherine Tuttle, Katherine Twombley, Tetyana L Vasylyeva, Donald J Weaver, Scott E Wenderfer, Keisha Gibson

Faculty, Staff and Student Publications

RATIONALE & OBJECTIVE: The effects of race, ethnicity, socioeconomic status (SES), and disease severity on acute care utilization in patients with glomerular disease are unknown.

STUDY DESIGN: Prospective cohort study.

SETTING & PARTICIPANTS: 1,456 adults and 768 children with biopsy-proven glomerular disease enrolled in the Cure Glomerulonephropathy (CureGN) cohort.

EXPOSURE: Race and ethnicity as a participant-reported social factor.

OUTCOME: Acute care utilization defined as hospitalizations or emergency department visits.

ANALYTICAL APPROACH: Multivariable recurrent event proportional rate models were used to estimate associations between race and ethnicity and acute care utilization.

RESULTS: Black or Hispanic participants had lower SES and more …

Post-Partum Depression (Ppd) Screening Tools Effectiveness In Refugee Populations, Joshua Jensen

Annual Research Symposium

Purpose:

Immigrant mothers check all the boxes that are significant risk factors for developing or exacerbating Postpartum Depression (PPD). These risk factors include, suffering in solitude, cultural conceptualizations, barriers to help seeking, and a lack of facilitators to help seeking. Despite this very little research has been done to find effective screening methods for this population.

The purpose of this research project is to compile the works of those before me to determine whether the Edinburgh Postnatal Depression or the PHQ 9 screening tool is the most effective for immigrant mothers.

Methods:

Research determining the effectivity of the two tests …

Early Marriage And Reproductive Health Outcomes Among Women In South Asia, Sameen Kazmi

Annual Research Symposium

No abstract provided.

Glucose 6-P Dehydrogenase Overexpression Improves Aging-Induced Endothelial Dysfunction In Aorta From Mice: Role Of Arginase Ii, Eva Serna, Maria D Mauricio, Teresa San-Miguel, Sol Guerra-Ojeda, David Verdú, Alicia Valls, Coralie Arc-Chagnaud, Adrián De La Rosa, José Viña

Faculty, Staff and Student Publications

The increase of vascular arginase activity during aging causes endothelial dysfunction. This enzyme competes with the endothelial nitric oxide synthase (eNOS) for L-arginine substrate. Our hypothesis is that glucose 6-P dehydrogenase (G6PD) overexpression could improve the endothelial function modulating the arginase pathway in aorta from mice. For this study, three groups of male mice were used: young wild type (WT) (6-9 months), old WT (21-22 months) and old G6PD-Tg (21-22 months) mice. Vascular reactivity results showed a reduced acetylcholine-dependent relaxation in the old WT but not old G6PD-Tg group. Endothelial dysfunction was reverted by nor-NOHA, an arginase inhibitor. Mice overexpressing …

The Clinical And Genetic Spectrum Of Autosomal-Recessive Tor1a-Related Disorders, Afshin Saffari, Tracy Lau, Homa Tajsharghi, Ehsan Ghayoor Karimiani, Ariana Kariminejad, Stephanie Efthymiou, Giovanni Zifarelli, Tipu Sultan, Mehran Beiraghi Toosi, Shahnaz Ibrahim

Department of Paediatrics and Child Health

In the field of rare diseases, progress in molecular diagnostics led to the recognition that variants linked to autosomal-dominant neurodegenerative diseases of later onset can, in the context of biallelic inheritance, cause devastating neurodevelopmental disorders and infantile or childhood-onset neurodegeneration. TOR1A-associated arthrogryposis multiplex congenita 5 (AMC5) is a rare neurodevelopmental disorder arising from biallelic variants in TOR1A, a gene that in the heterozygous state is associated to torsion dystonia-1 (DYT1 or DYT-TOR1A), an early-onset dystonia with reduced penetrance. While 15 individuals with TOR1A-AMC5 have been reported (less than 10 in detail), a systematic investigation of the full disease-associated spectrum has …

Pulse Oximetry: Why Oxygen Saturation Is Still Not A Part Of Standard Pediatric Guidelines In Low-And-Middle-Income Countries (Lmics), Maheen Sheikh, Huzaifa Ahmad, Romesa Ibrahim, Muhammad Imran Nisar, Fyezah Jehan

Department of Paediatrics and Child Health

Background: With the high frequency of acute respiratory infections in children worldwide, particularly so in low-resource countries, the development of effective diagnostic support is crucial. While pulse oximetry has been found to be an acceptable method of hypoxemia detection, improving clinical decision making and efficient referral, many healthcare set ups in low- and middle-income countries have not been able to implement pulse oximetry into their practice.
Main body: A review of past pulse oximetry implementation attempts in low- and middle-income countries proposes the barriers and potential solutions for complete integration in the healthcare systems. The addition of pulse oximetry into …

Discovering A New Part Of The Phenotypic Spectrum Of Coffin-Siris Syndrome In A Fetal Cohort, Pleuntje J Van Der Sluijs, Marieke Joosten, Caroline Alby, Tania Attié-Bitach, Kelly Gilmore, Christele Dubourg, Mélanie Fradin, Tianyun Wang, Evangeline C Kurtz-Nelson, Kaitlyn P Ahlers, Peer Arts, Christopher P Barnett, Myla Ashfaq, Anwar Baban, Myrthe Van Den Born, Sarah Borrie, Tiffany Busa, Alicia Byrne, Miriam Carriero, Claudia Cesario, Karen Chong, Anna Maria Cueto-González, Jennifer C Dempsey, Karin E M Diderich, Dan Doherty, Stense Farholt, Erica H Gerkes, Svetlana Gorokhova, Lutgarde C P Govaerts, Pernille A Gregersen, Scott E Hickey, Mathilde Lefebvre, Francesca Mari, Jelena Martinovic, Hope Northrup, Melanie O'Leary, Kareesma Parbhoo, Sophie Patrier, Bernt Popp, Fernando Santos-Simarro, Corinna Stoltenburg, Christel Thauvin-Robinet, Elisabeth Thompson, Anneke T Vulto-Van Silfhout, Farah R Zahir, Hamish S Scott, Rachel K Earl, Evan E Eichler, Neeta L Vora, Yael Wilnai, Jessica L Giordano, Ronald J Wapner, Jill A Rosenfeld, Monique C Haak, Gijs W E Santen

Faculty, Staff and Student Publications

In the article “Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort” by van der Sluijs PJ et al (Genet Med 2022;24:1753–1760), the author listing was updated in the Supplementary Material from “H. Scott” to “H. S. Scott” and in Supplemental Figure 1 the labels in the figure caption for A, B, C, and D have been updated to match the figure artwork. The revised supplement file has been published with this correction.