Diseases Commons^™

A Novel Code Team Leader Card To Improve Leader Identification, Palak Shah, Vinod Havalad

Journal of Patient-Centered Research and Reviews

Prompt and clear code team leader identification is vital in effective cardiopulmonary resuscitation (CPR), and pediatric trainees often have limited experience in these scenarios. This project sought to develop a tangible object that provided clear leader identification and assisted in code team management and simulated team training. A Code Team Leader Card (CTLC) was designed to provide clear leader identification while simultaneously providing a cognitive aid via integration of pediatric advanced life support (PALS) algorithms. Additionally, CTLC served to occupy the leader’s hands to limit their ability to intervene on procedural tasks. The CTLC was incorporated into pediatric resident simulation …

Conference Proceedings: Select Abstracts Presented At 2021 Advocate Aurora Health Scientific Day

Journal of Patient-Centered Research and Reviews

Abstracts published within this supplement were presented at the 47th annual Advocate Aurora Health Scientific Day, held virtually on May 26, 2021. This research symposium provides a forum for disseminating results from studies conducted by faculty, fellows, residents, and other allied health professionals associated with Midwest-based health system Advocate Aurora Health, which publishes the Journal of Patient-Centered Research and Reviews.

Congenital Epulis: A Two-Case Report, Monica Ivanov, Bianca Stroe, Valeriu Ardeleanu, Razvan Hainarosie, Vlad Denis Constantin, Anca Silvia Dumitriu, Stana Paunica, Anna Kadar

Journal of Mind and Medical Sciences

Congenital epulis is a rare benign tumor of the newborn that could be detected in the prenatal period. Females are more often affected than males and the premaxillary region is usually the predilection site for this oral mass. Excision is the treatment of choice and no recurrences have been reported so far.

We present our experience with two cases of congenital epulis, detected in the second trimester of gestation and treated shortly after birth with no further complications. Histopathology should differentiate between congenital epulis and other congenital oral tumors even if its clinical appearance is usually enough to make a …

Collagen-Based Biomaterials With Possible Therapeutic Effects, Ramona Mihaela Nedelcuţă, Gigi Călin, Mihai Cristian Nedelcuţă, Vlad Dumitru Baleanu, Dragos Virgil Davitoiu, Bogdan Socea, Bogdan-Petre Stănoiu

Journal of Mind and Medical Sciences

Epidermolysis bullosa (EB) is a rare, serious genetic disease, incurable through the current means. Apart from this initial definition, there was later some ease in the definition of the disease, including the manifestations of toxic epidermal necrolysis and Stevens Johnson syndrome in this entity. In medical practice, there are cases that do not overlap with the description in the literature, thus the treatment must be adapted and personalized to the particularities. We present the case of a female new-born, with "de novo" mutation for the early-onset antenatal epidermolysis and our personalized therapeutic management, based on collagen from bovine corneas by …

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 …

Water, Sanitation And Hygiene: A Leading Cause Of Viral Transmission In Pakistan?, Zouina Sarfraz, Azza Sarfraz, Aman Siddiqui, Ali Totonchian, Muzna Sarfraz, Ivan Cherrez-Ojeda

Department of Paediatrics and Child Health

No abstract provided.

Impact Of Pulse Oximetry On Hospital Referral Acceptance In Children Under 5 With Severe Pneumonia In Rural Pakistan (District Jamshoro): Protocol For A Cluster Randomised Trial, Fatima Mir, Apsara Ali, Suhail Chanar, Amjad Hussain, Arjumand Rizvi, Imran Ahmed, Zahid Memon, Atif Habib, Sajid Bashir Soofi, Zulfiqar Ahmed Bhutta

Department of Paediatrics and Child Health

Background: Pneumonia is a leading cause of death among children under 5 specifically in South Asia and sub-Saharan Africa. Hypoxaemia is a life-threatening complication among children under 5 with pneumonia. Hypoxaemia increases risk of mortality by 4.3 times in children with pneumonia than those without hypoxaemia. Prevalence of hypoxaemia varies with geography, altitude and severity (9%-39% Asia, 3%-10% African countries). In this protocol paper, we describe research methods for assessing impact of Lady Health Workers (LHWs) identifying hypoxaemia in children with signs of pneumonia during household visits on acceptance of hospital referral in district Jamshoro, Sindh.
Methods and analysis: A …

Tebipenem As An Oral Alternative For The Treatment Of Typhoid Caused By Xdr Salmonella Typhi, Elli Mylona, Phat Voong Vinh, Sonia Qureshi, Abhilasha Karkey, Sabina Dongol, Tuyen Ha Thanh, Judd Walson, Lluis Ballell, Elena Fernández Álvaro, Farah Naz Qamar, Stephen Baker

Department of Paediatrics and Child Health

Background: Antimicrobial therapy is essential for the treatment of enteric fever, the infection caused by Salmonella serovars Typhi and Paratyphi A. However, an increase in resistance to key antimicrobials and the emergence of MDR and XDR in Salmonella Typhi poses a major threat for efficacious outpatient treatments.
Objectives: We recently identified tebipenem, an oral carbapenem licensed for use for respiratory tract infections in Japan, as a potential alternative treatment for MDR/XDR Shigella spp. Here, we aimed to test the in vitro antibacterial efficacy of this drug against MDR and XDR typhoidal Salmonella.
Methods: We determined the in vitro activity of …

Quality Of Inpatient Care Of Small And Sick Newborns In Pakistan: Perceptions Of Key Stakeholders, Nousheen Pradhan, Ammarah Ali, Sana Roujani, Sumera Aziz Ali, Samia Rizwan, Sarah Saleem, Sameen Siddiqi

Community Health Sciences

Background: In LMICs including Pakistan, neonatal health and survival is a critical challenge, and therefore improving the quality of facility-based newborn care services is instrumental in averting newborn mortality. This paper presents the perceptions of the key stakeholders in the public sector to explore factors influencing the care of small and sick newborns and young infants in inpatient care settings across Pakistan.
Methods: This exploratory study was part of a larger study assessing the situation of newborn and young infant in-patient care provided across all four provinces and administrative regions of Pakistan. We conducted 43 interviews. Thirty interviews were conducted …

Clinical Profile And Predictors Of Mortality In Neonates Born With Non-Immune Hydrops Fetalis: Experience From A Lower-Middle-Income Country, Vinod K. Hasija, Adnan Mirza, Waqar Khowaja, Sidra Asif, Muhammad Sohail Salat, Shabina Ariff, Khalil Ahmad

Department of Paediatrics and Child Health

Introduction: Hydrops fetalis (HF) is a life-threatening condition in which a fetus has an abnormal collection of fluid in the tissue around the lungs, heart, abdomen, or under the skin. Based on its pathophysiology, it is classified into immune and non-immune types. With the widespread use of anti-D immunoglobulin, non-immune HF has become more common, with an incidence of one in 1,700-3,000 live births. A multitude of fetal diseases with various causes can lead to non-immune HF. Due to the recent advances in prenatal diagnostic and therapeutic interventions together with improved neonatal intensive care, the diagnosis and subsequent management of …

Machine Learning Guided Postnatal Gestational Age Assessment Using New-Born Screening Metabolomic Data In South Asia And Sub-Saharan Africa, Sunil Sazawal, Kelli K. Ryckman, Sayan Das, Muhammad Imran Nisar, Usma Mehmood, Amina Barkat, Farah Khalid, Muhammad Ilyas Muhammad Ilyas, Ambreen Nizar, Fyezah Jehan

Department of Paediatrics and Child Health

Background: Babies born early and/or small for gestational age in Low and Middle-income countries (LMICs) contribute substantially to global neonatal and infant mortality. Tracking this metric is critical at a population level for informed policy, advocacy, resources allocation and program evaluation and at an individual level for targeted care. Early prenatal ultrasound examination is not available in these settings, gestational age (GA) is estimated using new-born assessment, last menstrual period (LMP) recalls and birth weight, which are unreliable. Algorithms in developed settings, using metabolic screen data, provided GA estimates within 1-2 weeks of ultrasonography-based GA. We sought to leverage machine …

Accuracy Of Spontaneous Breathing Trial Using Et-Cpap In Predicting Successful Extubation Of Neonates, Azeem Khan, Vikram Kumar, Ali Shabbir Hussain, Erum Choudry, Muhammad Khalid, Sheharyar Khan, Fayaz Ahmed Memon, Anum Rahim, Syed Rehan Ali

Department of Paediatrics and Child Health

Objective: Extubation failure is common in mechanically ventilated neonates. Finding objective criteria for predicting successful extubation may help to reduce the incidence of failure and the length of mechanical ventilation (MV). We conducted this study to determine the accuracy of the spontaneous breathing trial (SBT) and lung function measurements in predicting successful extubation in neonates.
Methodology: This cross-sectional validation study was conducted at a tertiary care neonatal intensive care unit (NICU) over 12 months from December 2019 to December 2020. Neonates intubated for >24 hours and considered ready for extubation were enrolled in the study. Neonates who met defined eligibility …

Global Respiratory Syncytial Virus-Related Infant Community Deaths, Natalie I. Mazur, Yvette N. Löwensteyn, Joukje E. Willemsen, Christopher J. Gill, Leah Forman, Lawrence M. Mwananyanda, Dianna M. Blau, Robert F. Breiman, Shabir A. Madhi, Abdul Momin Kazi

Department of Paediatrics and Child Health

Background: Respiratory syncytial virus (RSV) is a leading cause of pediatric death, with >99% of mortality occurring in low- and lower middle-income countries. At least half of RSV-related deaths are estimated to occur in the community, but clinical characteristics of this group of children remain poorly characterized.
Methods: The RSV Global Online Mortality Database (RSV GOLD), a global registry of under-5 children who have died with RSV-related illness, describes clinical characteristics of children dying of RSV through global data sharing. RSV GOLD acts as a collaborative platform for global deaths, including community mortality studies described in this supplement. We aimed …

Respiratory Syncytial Virus-Associated Mortality Among Young Infants In Karachi, Pakistan: A Prospective Postmortem Surveillance Study, Abdul Momin Kazi, Obianuju G. Aguolu, Waliyah Mughis, Nazia Ahsan, Saima Jamal, Ayub Khan, Hanya M. Qureshi, Inci Yildirim, Fauzia A. Malik, Saad B. Omer

Department of Paediatrics and Child Health

Background: Respiratory syncytial virus (RSV) is an important cause of infant morbidity and mortality and a potential target for maternal immunization strategies. However, data on the role of RSV in young infant deaths in developing countries are limited.
Methods: We conducted a community-based mortality surveillance from August 2018-March 2020 for infants ≤6 months in Karachi, Pakistan. We tested (reverse transcription-polymerase chain reaction) nasopharyngeal swabs from deceased infants for presence of RSV. We performed verbal autopsies and calculated odds of RSV-associated mortality with 95% CIs and used multivariable logistic regression to evaluate associations.
Results: We collected 490 nasopharyngeal specimens from 1280 …

Challenges Of Assessing Community Mortality Due To Respiratory Viruses In Children Aged Less Than 5 Years, Mauricio T. Caballero, Ashish Satav, Christopher J. Gill, Saad B. Omer, Rachel C. Pieciak, Abdul Momin Kazi, Eric Af Simões, Fernando P. Polack

Department of Paediatrics and Child Health

Background: Estimating the real impact of respiratory syncytial virus (RSV) disease is key for the development of vaccines and treatments. Ascertaining the burden of community mortality due to RSV is challenging due to the lack of primary data. Therefore, conducting observational studies to determine the factors associated with community mortality due to the virus in developing countries is important.
Objective: Our aim in this study was to describe the obstacles, gaps, and challenges that investigators face in low-income, vulnerable regions in 4 developing countries on 3 continents.
Results: The main obstacles and challenges of ascertaining community mortality due to RSV …

Cheyne-Stokes Respiration In A 17-Year-Old Boy Awaiting Heart Transplantation, Nooralam A Rai, Aliva De, Carin Lamm

The Texas Heart Institute Journal

Cheyne-Stokes respiration is a pattern of alternating central apnea and hyperpnea. It is well described in adults with congestive heart failure, but not in children.

We report the case of a 17-year-old boy whose systolic heart failure was complicated by Cheyne-Stokes respiration. He was given supportive therapy until heart transplant, after which his Cheyne-Stokes respiration clinically resolved. Clinicians should be aware of this uncommon condition in pediatric and adolescent patients who have advanced heart failure and irregular breathing.

Primary Ciliary Dyskinesia: Ancestral Haplotypes Analysis Of The Rsph4a Founder Mutation In Puerto Rico, Wilfredo De Jesús-Rojas, Dalilah Reyes De Jesús, Angélica M Nieves, Ricardo A Mosquera, Juan C Martinez-Cruzado

Faculty, Staff and Student Publications

Genetic mutations in >50 genes, including RSPH4A, can lead to primary ciliary dyskinesia (PCD). RSPH4A mutations affect radial spokes, which alter the configuration of the ciliary ultrastructure and lead to chronic oto-sinopulmonary disease. The RSPH4A [c.921+3_6delAAGT] founder mutation was described as one cause of PCD without laterality defects in Puerto Rico. The average Puerto Rican genetic composition includes 64% European, 21% African ancestral, and 15% Native-American or Taino, a native tribe in the Caribbean at the start of the European colonization, genes. Due to the relatively elevated Taino ancestry on the island, it might have contributed to the endemicity of …

Association Of Maternal Prenatal Selenium Concentration And Preterm Birth: A Multicountry Meta-Analysis, Nagendra Monangi, Huan Xu, Waqasuddin Khan, Furqan Kabir, Muhammad Imran Nisar, Aneeta Hotwani, Usma Mehmood, Ambreen Nizar, Javairia Khalid, Fyezah Jehan

Department of Paediatrics and Child Health

Background: Selenium (Se), an essential trace mineral, has been implicated in preterm birth (PTB). We aimed to determine the association of maternal Se concentrations during pregnancy with PTB risk and gestational duration in a large number of samples collected from diverse populations.
Methods: Gestational duration data and maternal plasma or serum samples of 9946 singleton live births were obtained from 17 geographically diverse study cohorts. Maternal Se concentrations were determined by inductively coupled plasma mass spectrometry analysis. The associations between maternal Se with PTB and gestational duration were analysed using logistic and linear regressions. The results were then combined using …

Classical Findings Of Infantile Hepatic Hemangiomas, Senayit Demie, Michael Bossak

HCA Healthcare Journal of Medicine

Introduction

Hemangiomas are benign vascular tumors that are common during infancy. They are most commonly noted as superficial bright red lesions on the skin but can also be found deeper as subcutaneous lesions. Patients with multifocal cutaneous hemangiomas are at risk of visceral involvement with the liver being most commonly affected. Most hemangiomas can be monitored clinically as they are self-limiting. Despite this, hepatic hemangiomas can have serious complications including large arteriovenous shunts leading to cardiac compromise as well as severe hepatomegaly which can cause abdominal compartment syndrome, impaired ventilation and renal vein compression.

Clinical Findings

A six-month-old female, born …

Higher Entropy Observed In Sars-Cov-2 Genomes From The First Covid-19 Wave In Pakistan, Najia Karim Ghanchi, Asghar Nasir, Kiran I. Masood, Syed Hani Abidi, Syed Faisal Mahmood, Akber Kanji, Safina Abdul Razzak, Waqasuddin Khan, Saba Shahid, Maliha Yameen, Ali Raza, Javaria Ashraf, Zeeshan Ansar Ahmed, Mohammad Buksh Dharejo, Nazneen Islam, Zahra Hasan, Rumina Hasan

Department of Pathology and Laboratory Medicine

Background: We investigated the genome diversity of SARS-CoV-2 associated with the early COVID-19 period to investigate evolution of the virus in Pakistan.
Materials and methods: We studied ninety SARS-CoV-2 strains isolated between March and October 2020. Whole genome sequences from our laboratory and available genomes were used to investigate phylogeny, genetic variantion and mutation rates of SARS-CoV-2 strains in Pakistan. Site specific entropy analysis compared mutation rates between strains isolated before and after June 2020.
Results: In March, strains belonging to L, S, V and GH clades were observed but by October, only L and GH strains were present. The …

Atypical Idiopathic Intracranial Hypertension Presenting As Cyclic Vomiting Syndrome: A Case Report, Nafee T Talukder, Amanda H Clorfeine, Moira K Black, Shade B Moody

Faculty, Staff and Student Publications

BACKGROUND: Idiopathic intracranial hypertension is a disorder of increased intracranial pressure in the absence of cerebrospinal outflow obstruction, mass lesion, or other underlying cause. It is a rare phenomenon in prepubertal children and is most typically found in women of childbearing age. The classic presentation consists of headaches, nausea, vomiting, and visual changes; however, children present more atypically. We report a case of idiopathic intracranial hypertension in an otherwise healthy, 4-year-old child with atypical symptoms resembling those of cyclic vomiting syndrome.

CASE PRESENTATION: A 4-year-old Caucasian, otherwise healthy, male child presented to our emergency department with episodic intermittent early-morning vomiting …

Cohort Profile: The Alliance For Maternal And Newborn Health Improvement (Amanhi) Biobanking Study, Fahad Aftab, Salahuddin Ahmed, Aneeta Hotwani, Muhammad Ilyas, Mohammad Javaid, Fyezah Jehan, Farah Khalid, Usma Mehmood, Muhammad Imran Nisar, Muhammad Sajid

Department of Paediatrics and Child Health

No abstract provided.

Comparing Growth Velocity Of Hiv Exposed And Non-Exposed Infants: An Observational Study Of Infants Enrolled In A Randomized Control Trial In Zambia, Obvious Nchimunya Chilyabanyama, Roma Chilengi, Natasha Makabilo Laban, Masuzyo Chirwa, Michelo Simunyandi, Luiza Miyanda Hatyoka, Innocent Ngaruye, Najeeha Talat Iqbal, Samuel Bosomprah

Department of Paediatrics and Child Health

Background: Impaired growth among infants remains one of the leading nutrition problems globally. In this study, we aimed to compare the growth trajectory rate and evaluate growth trajectory characteristics among children, who are HIV exposed uninfected (HEU) and HIV unexposed uninfected (HUU), under two years in Zambia.
Method: Our study used data from the ROVAS II study (PACTR201804003096919), an open-label randomized control trial of two verses three doses of live, attenuated, oral RotarixTM administered 6 &10 weeks or at 6 &10 weeks plus an additional dose at 9 months of age, conducted at George clinic in Lusaka, Zambia. Anthropometric measurements …

Effectiveness Of Specialized Nutritious Foods And Social And Behavior Change Communication Interventions To Prevent Stunting Among Children In Badakhshan, Afghanistan: Protocol For A Quasi-Experimental Study, Sajid Bashir Soofi, Gul Nawaz Khan, Shabina Ariff, Arjumand Rizvi, Mohammad Asif Hussainyar, Cecilia Garzon, Martin Ahimbisibwe, Rafiullah Sadeed, Ahmad Reshad

Department of Paediatrics and Child Health

Stunting predominantly occurs during the first 1000 days of life and continues to the age of five years. We will aim to assess the effectiveness of specialized nutritious foods (SNF)and social and behavior change communication (SBCC) strategies during the first 1000 days of life to prevent stunting among children in two rural districts of Badakhshan, Afghanistan. This will be a quasi-experimental pre-post study with the control group utilizing qualitative and quantitative methods. Before launching the program, formative research will be conducted on the acceptability, appropriate use and SBCC strategies needed to support the introduction of intervention package. Repeated cross-sectional baseline …

Unveiling And Addressing Implementation Barriers To Routine Immunization In The Peri-Urban Slums Of Karachi, Pakistan: A Mixed-Methods Study, Amna Tanweer Yazdani, Ameer Muhammad, Muhammad Imran Nisar, Uzma Khan, Yasir Shafiq

Department of Paediatrics and Child Health

Background: Great disparities in immunization coverage exist in Pakistan between urban and rural areas. However, coverage estimates for large peri-urban slums in Sindh are largely unknown and implementation challenges remain unexplored. This study explores key supply- and demand-side immunization barriers in peri-urban slums, as well as strategies to address them. It also assesses immunization coverage in the target slums.
Methods: Conducted in four peri-urban slums in Karachi, this mixed-methods study consists of a baseline cross-sectional coverage survey of a representative sample of 840 caregivers of children aged 12-23 months, and 155 in-depth interviews (IDIs) through purposive sampling of respondents (caregivers, …

Detection Of Subclinical Rheumatic Heart Disease In Children Using A Deep Learning Algorithm On Digital Stethoscope: A Study Protocol, Fatima Ali, Babar Hasan, Huzaifa Ahmad, Zahra Hoodbhoy, Zainab Bhuriwala, Muhammad Hanif, Shahab U. Ansari, Devyani Chowdhury

Department of Paediatrics and Child Health

Introduction: Rheumatic heart diseases (RHDs) contribute significant morbidity and mortality globally. To reduce the burden of RHD, timely initiation of secondary prophylaxis is important. The objectives of this study are to determine the frequency of subclinical RHD and to train a deep learning (DL) algorithm using waveform data from the digital auscultatory stethoscope (DAS) in predicting subclinical RHD.
Methods and analysis: We aim to recruit 1700 children from a group of schools serving the underprivileged over a 12-month period in Karachi (Pakistan). All consenting students within the age of 5-15 years with no underlying congenital heart disease will be eligible …

Occlusive Pulmonary Artery Thrombosis In A Healthy Neonate With No Identifiable Risk Factors, Cynthia Laviolette, Jason Turner, Latasha Lewis, Song-Gui Yang, Tim Pettitt, Kurt D Piggott

Faculty, Staff and Student Publications

Pulmonary artery thrombosis is reported in neonates with risk factors for hypercoagulability. No consensus exists regarding standard therapy for this condition. We present a neonate, with no risk factors for thrombosis, who was admitted after birth to the Pediatric Cardiac Intensive Care Unit with an occlusive left pulmonary artery thrombus.

Our Experience Of Treating Adult Bone Lymphoma, A Retrospective Cross-Sectional Study In A Tertiary Care Center, Aga Khan University Hospital, Karachi, Masood Umer, Muhammad Younus Khan Durrani, Javeria Saeed, Nasir Ud Din

Section of Orthopaedic Surgery

Objective: To determine the experience at the Aga Khan University Hospital in diagnosing and treating adult patients with primary lymphoma of bone.
Methodology: All patients with Primary lymphoma of bone (PLB) that were diagnosed and/or treated at Aga Khan University Hospital, Karachi from 2005 to 2019 were included as part of this study.
Results: There were 17 patients with PLB including 13 (76.5%) males and 4 (23.5%) females with a mean age of 44 ± 16.5 years. Nine patients were between 30-59 years of age at diagnosis. The mean follow-up time of patients was 80±46.7 months. Six patients had tumours …

Frequency Of Primiparous Mother Initiated Breastfeeding Earlier After Birth And Factors Associated With It In Sindh, Pakistan: A Secondary Analysis, Asma A. Bham, Sucheta Sharma, Akash Sardool, Umer F. Mujahid, Amrat Ayaz, Komal Valliani, Nawaal Maredia

Community Health Sciences

Background: Initiation of breastfeeding within one hour after delivery plays a vital role in a newborns life by not only increasing their survival rate but also reducing many life-threatening diseases in the newborn. The aim of the study was to determine frequency of early initiation of breastfeeding among primiparous mothers in a rural district of Thatta, Pakistan.
Methods: This study was conducted using survey data extracted from a cross-sectional study conducted in 2019 on prevalence of exclusive breastfeeding and factors associated with it among women in Thatta. The outcome was early initiation of breastfeeding. To determine factors associated with it, …

The Design And Rationale Of A Multicenter Real-World Trial: The Southeastern Collaboration To Improve Blood Pressure Control In The Us Black Belt – Addressing The Triple Threat, Tina O Findley, Hope Northrup

Faculty, Staff and Student Publications

The incidence of congenital heart defect (CHD) has increased over the past fifty years, partly attributed to routine fetal anatomical examination by sonography during obstetric care and improvements in ultrasound technology and technique. Fetal findings on ultrasound in addition to maternal biomarkers are the backbone of first- and second-trimester screening for common genetic conditions, namely aneuploidy. Since the introduction of non-invasive prenatal testing (NIPT) using next-generation sequencing to sequence cell-free fetal DNA, the detection rate of common trisomies as well as sex chromosomal aneuploidies have markedly increased. As the use of NIPT continues to broaden, the best means of incorporating …