Publications by authors named "Angie Jelin"

(1) Background: The exact etiology for gastroschisis, the most common abdominal defect, is yet to be known, despite the rising prevalence of this condition. The leading theory suggests an increased familial risk, indicating a possible genetic component possibly in the context of environmental risk factors. This systematic review aims to summarize the studies focused on the identification of a potential genetic etiology for gastroschisis to elucidate the status of the field.

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Article Synopsis
  • - Normal neuronal cell differentiation and migration are essential for brain formation, particularly during fetal development, peaking around the time of routine ultrasound exams.
  • - Abnormalities in cortical migration may indicate genetic issues or fetal injury that could significantly affect the child's future development.
  • - The text discusses three cases where prenatal ultrasound was crucial in diagnosing fetal cortical abnormalities in the mid-trimester, aiding in timely clinical counseling.
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Background: Amniocentesis for genetic diagnosis is most commonly done between 15 and 22 weeks of gestation but can be performed at later gestational ages. The safety and genetic diagnostic accuracy of amniocentesis have been well-established through numerous large-scale multicenter studies for procedures before 24 weeks, but comprehensive data on late amniocentesis remain sparse.

Objective: To evaluate the indications, diagnostic yield, safety, and maternal and fetal outcomes associated with amniocentesis performed at or beyond 24 weeks of gestation.

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  • Bladder exstrophy epispadias complex (BEEC) is a rare birth defect with unclear causes, though genetics may play a role, and newer sequencing technologies help pinpoint genetic factors.
  • The study aimed to find rare genetic variants linked to bladder regeneration in 12 patients with BEEC, classifying their bladder function as either sufficient or insufficient.
  • Out of 44 genes studied, the researchers discovered rare genetic variants in two genes among sufficient cases and seven variants across five genes in unsuspected cases, highlighting the potential genetic contributors to the condition.
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Introduction: The optimal protocol for serial amnioinfusions to maintain amniotic fluid in pregnancies with early-onset fetal renal anhydramnios before 22 weeks is not known. We compared the performance of two different approaches.

Methods: A secondary analysis was conducted of serial amnioinfusions performed by a single center during the external pilot and feasibility phases of the Renal Anhydramnios Fetal Therapy (RAFT) trial.

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Introduction: Classic bladder exstrophy (CBE) is a malformation of the genitourinary system that occurs due to failure of abdominal wall closure. Unlike other malformations of similar incidence, prenatal diagnosis of CBE relies on suggested, rather than formal, diagnostic criteria.

Objective: This report describes prenatal diagnosis of CBE in the largest single-institutional cohort to date and delineates key sonographic findings and protocols for specialist referral.

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Introduction: A critical component of an evidence-based reassessment of in-utero intervention for fetal aqueductal stenosis (fetal AS) is determining if the prenatal diagnosis can be accurately made at a gestational age amenable to in-utero intervention.

Methods: A multicenter, prospective, observational study was conducted through the North American Fetal Therapy Network (NAFTNet). Pregnancies complicated by severe central nervous system (CNS) ventriculomegaly (lateral ventricle diameter >15 mm) not secondary to a primary diagnosis (myelomeningocele, encephalocele, etc.

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Objective: GREB1L has been linked prenatally to Potter's sequence, as well as less severe anomalies of the kidney, uterus, inner ear, and heart. The full phenotypic spectrum is unknown. The purpose of this study was to characterize known and novel pre- and postnatal phenotypes associated with GREB1L.

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Objective: The goal of this study was to review and analyze the medical literature for cases of prenatal and/or postnatally diagnosed bilateral renal agenesis (BRA) and create a comprehensive summary of the genetic etiologies known to be associated with this condition.

Methods: A literature search was conducted as a scoping review employing Online Mendeliain Inheritance in Man, PubMed, and Cochrane to identify cases of BRA with known underlying genetic (chromosomal vs. single gene) etiologies and those described in syndromes without any known genetic etiology.

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Bladder exstrophy epispadias complex (BEEC) encompasses a spectrum of conditions ranging from mild epispadias to the most severe form: omphalocele-bladder exstrophy-imperforate anus-spinal defects (OEIS). BEEC involves abnormalities related to anatomical structures that are proposed to have a similar underlying etiology and pathogenesis. In general, BEEC, is considered to arise from a sequence of events in embryonic development and is believed to be a multi-etiological disease with contributions from genetic and environmental factors.

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Maximizing preconception health is an important strategy to prevent preeclampsia in pregnancy. Preeclampsia remains a significant cause of maternal and fetal morbidity and mortality. We examined the associations between preconception maternal body weight, body mass index (BMI), and blood pressure with preeclampsia and its related outcomes.

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Importance: Early anhydramnios during pregnancy, resulting from fetal bilateral renal agenesis, causes lethal pulmonary hypoplasia in neonates. Restoring amniotic fluid via serial amnioinfusions may promote lung development, enabling survival.

Objective: To assess neonatal outcomes of serial amnioinfusions initiated before 26 weeks' gestation to mitigate lethal pulmonary hypoplasia.

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Objective: Fetal megacystis generally presents as suspected lower urinary tract obstruction (LUTO), which is associated with severe perinatal morbidity. Genetic etiologies underlying LUTO or a LUTO-like initial presentation are poorly understood. Our objectives are to describe single gene etiologies in fetuses initially ascertained to have suspected LUTO and to elucidate genotype-phenotype correlations.

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Introduction: A single institutional study characterizes the rate of prenatal diagnosis of cloacal exstrophy (CE) and examines its role on successful primary closures.

Materials And Methods: An institutional database of 1485 exstrophy-epispadias patients was reviewed retrospectively for CE patients with confirmed presence/absence of prenatal diagnostics, primary exstrophy closure since 2000, institution of closure, and at least 1 year of follow up following closure.

Results: The cohort included 56 domestic patients and 9 international patients.

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Placental transfusion for 30-60 s after delivery is recommended by numerous professional societies and is now a common practice. Numerous studies document neonatal benefit with minimal maternal risk when routine neonatal stabilization and active management of the third stage of labor are undertaken during the period of delayed cord clamping. Maternal outcomes do not show any increased incidence of postpartum hemorrhage, or need for blood product transfusion in the case of vaginal delivery or cesarean section.

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Article Synopsis
  • The study aimed to evaluate how accurately fetal sonography can diagnose proximal gastrointestinal obstruction in fetuses and the outcomes for newborns.
  • A review of records from 2012 to 2022 revealed 56 confirmed cases, with high sensitivity (85%) and specificity (98%) of the double bubble sign in diagnosing the condition.
  • The findings suggest that fetal sonography is reliable for this condition, which helps pediatric surgeons in advising families during prenatal consultations.
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Objective: Examine whether repeat nasal bone evaluation following an absent/uncertain nasal bone on first-trimester screening (FTS) improves Down syndrome (DS) screening specificity.

Methods: A retrospective chart review of FTS sonograms in one center from January 2015 to January 2018 was performed. Data was extracted for those with an absent/uncertain nasal bone.

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Objectives: The aim was to determine the accuracy of cell-free DNA testing (cfDNA) for detecting sex chromosome aneuploidies (SCA) in singleton pregnancies.

Methods: A systematic review and meta-analysis was performed to assess cfDNA accuracy for prenatal detection of 45,X, 47,XXY, 47,XXX and 47,XYY. Inclusion was restricted to studies published between January 2010 and December 2021 reporting both cfDNA and confirmatory diagnostic test results.

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Arthrogryposis multiplex congenita (AMC) [also known as multiple joints contracture or Fetal Akinesia Deformation Sequence (FADS)] is etiologically a heterogeneous condition with an estimated incidence of approximately 1 in 3000 live births and much higher incidence when prenatally diagnosed cases are included. The condition can be acquired or secondary to fetal exposures and can also be caused by a variety of single-gene disorders affecting the brain, spinal cord, peripheral nerves, neuromuscular junction, muscle, and a variety of disorders affecting the connective tissues (Niles et al., Prenatal Diagnosis, 2019; 39:720-731).

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Hypophosphatasia (HPP) is an underrecognized, complex bone mineralization disorder with variable manifestations caused by one or two deleterious variants in the alkaline phosphatase (ALPL) gene. Expanded carrier screening (ECS), inclusive of ALPL, intends to inform reproductive risk but may incidentally reveal an HPP diagnosis with 50% familial risks. We sought to investigate at-risk individuals and develop a multidisciplinary referral and evaluation protocol for ECS-identified ALPL heterozygosity.

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Article Synopsis
  • Tubulinopathies are genetic disorders caused by mutations in tubulin that disrupt normal brain development, particularly neuronal migration, and have traditionally been diagnosed after birth through imaging.
  • A study involving nine institutions reviewed 19 pregnancies with confirmed tubulinopathies, documenting common fetal imaging findings like cerebral ventriculomegaly and cerebellar hypoplasia, with fetal MRI providing additional insights.
  • Early identification through specific prenatal imaging signs can prompt further testing for tubulinopathies, and molecular sequencing can help professionals plan for care and future pregnancies.
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Introduction: Routine prenatal screening ultrasounds primarily serve to diagnose major fetal anomalies which may prompt further testing and inform clinical decision-making, including possible pregnancy termination. Meanwhile, expectant parents may view the ultrasound experience and information gained differently from their clinicians. In this setting, how to best counsel patients, especially regarding the increasing findings of indeterminant clinical significance, is unclear.

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We systematically delineated the prenatal phenotype, and obstetrical and neonatal outcomes of the RASopathy cardio-facio-cutaneous (CFC) syndrome. A comprehensive, retrospective medical history survey was distributed to parents of children with confirmed CFC in collaboration with CFC International, Inc. Data were collected on CFC gene variant, maternal characteristics, pregnancy course, delivery, and neonatal outcomes with the support of medical records.

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  • Alpha thalassemia major (ATM) poses a high risk of perinatal loss without in utero transfusions (IUTs), prompting an international registry to assess the impact of IUTs on survival and neurodevelopmental outcomes.
  • Among 49 prenatally diagnosed patients, those who received IUTs had significantly better health outcomes, such as resolution of hydrops and shorter hospital stays, compared to those diagnosed postnatally.
  • Data suggested that the earlier the IUT started, the better the neurodevelopmental scores, highlighting the importance of IUTs in improving survival and normal development in ATM patients, and suggesting that prenatal counseling should include this option for expectant parents.
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