Incidence and Carrier Frequency of CFTR Gene Mutations in Pregnancies With Echogenic Bowel in Nova Scotia and Prince Edward Island

Miller, Michelle E.; Allen, Victoria M.; Brock, Jo-Ann

doi:10.1016/j.jogc.2017.11.021

Cited by 3 publications

(5 citation statements)

References 27 publications

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“…Hyperechogenic bowel can be isolated or seen in many diseases. HEB can be observed in 0.1-1.8% of normal pregnancies (9). HEB is defined as a non-specific prenatal marker in cases such as cystic fibrosis, chromosomal aneuploidies, small bowel obstruction, Hirschsprung's disease, intestinal atresia, intraamniotic hemorrhage and oligohydramnios (9,18).…”

Section: Discussionmentioning

confidence: 99%

“…In a study, 7% of fetuses with down syndrome were associated with isolated HEB. Despite this high rate, HEB is not a specific marker for trisomy 21 but can be considered as a soft marker according to the literature (9,10,19). In a meta-analysis performed in North America, 230 cases were evaluated and in 60% of all cases, there was not the additional anomaly in the postnatal follow-up.…”

Section: Discussionmentioning

confidence: 99%

“…In a meta-analysis performed in North America, 230 cases were evaluated and in 60% of all cases, there was not the additional anomaly in the postnatal follow-up. Karyotype abnormalities, intrauterine growth, and perinatal mortality rates were high in the diseased group (7)(8)(9)(10)13). Sex chromosomal abnormalities such as turner syndrome were determined among the aneuploidies, mostly trisomy 21.…”

Section: Discussionmentioning

confidence: 99%

“…The frequency of aneuploidy ranged from 3% to 27%. Trisomy 13,18, Turner syndrome and triploidy are also observed in chromosomal diseases (9,19). In a study of the perinatology clinical data of Zekai Tahir Burak Training and Research Hospital between 2007 and 2010 were evaluated ultrasonographic findings of fetuses with 177 aneuploidies in the second trimester.…”

Section: Discussionmentioning

confidence: 99%

“…Hyperechogenic bowel is observed between 0.6% and 1.4% in the second trimester ultrasonography (8)(9)(10). It is predicted that perinatal complications (intrauterine growth restriction, intraamniotic hemorrhage, perinatal death, karyotype anomalies, cytomegalovirus, parvovirus, toxoplasmosis, fetal metabolic diseases, small bowel obstruction, bowel agenesis, observer error, etc.)…”

Section: Introductionmentioning

confidence: 99%

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Perinatal Outcome of Fetal Echogenic Bowel: A Single-Center Retrospective Cohort Study

Şal

Cömert

Ekici

et al. 2020

Gynecol Obstet Reprod Med

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Objective: The aim of this study is to evaluate perinatal outcome of fetal echogenic bowel. Study Design: In this retrospective cohort study, fetuses with echogenic bowel diagnosed and followed in our center between 2013-2017 were included. Fetuses and infants were evaluated in terms of antenatal comorbidities and postnatal persistent diseases. Infants were followed-up to June 2018 from time of diagnosis. Demographic questionnaire and face to face interview were used to obtain data including immune system diseases and respiratory system pathologies in infants. Results: A total of 100 fetuses with echogenic bowel were included in the study. Fetal aneuploidy was detected in 7 (7%) cases. Trisomy 21 was the most common aneuploidy and identified in 4 (4%) cases. Other chromosomal disorders were tetrasomy 12p (1%), 69XXX (1%) and 46 XX, t (2,22) (9q9) (1%). A fetal echogenic bowel was associated with major congenital malformations in 25 (%25) cases. Cardiac abnormality was the most prevalent (%7). First and second trimester vaginal bleeding history was found in 5 pregnant women. In 3 case with isolated echogenic bowel (no congenital malformation and aneuploidy), lactose intolerance, celiac disease, and non-obstructive hydrocephalus were diagnosed in early childhood. Conclusion: Isolated fetal echogenic bowel which can be considered as a soft marker for aneuploidy may be associated with lactose intolerance and celiac disease. Further clinical studies are warranted to evaluate this relationship.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 3 more Smart Citations

Perinatal Outcome of Fetal Echogenic Bowel: A Single-Center Retrospective Cohort Study

Şal

Cömert

Ekici

et al. 2020

Gynecol Obstet Reprod Med

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Prenatal genetic testing for cystic fibrosis: a systematic review of clinical effectiveness and an ethics review

Kessels

Carter

Ellery

et al. 2020

Genetics in Medicine

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Therapeutic Interventions for Pseudomonas Infections in Cystic Fibrosis Patients: A Review of Phase IV Trials

Alqasmi

2024

JCM

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Pseudomonas aeruginosa (Pa) poses a significant threat to individuals with cystic fibrosis (CF), as this bacterium is highly adaptable and resistant to antibiotics. While early-stage Pa infections can often be eradicated with aggressive antibiotic therapy, chronic infections are nearly impossible to eliminate and require treatments that focus on long-term bacterial suppression. Without such suppression, these persistent infections can severely damage the lungs, leading to serious complications and a reduced life expectancy for CF patients. Evidence for a specific treatment regimen for managing Pa infections in CF patients remains limited. This narrative review provides a detailed analysis of antimicrobial therapies assessed in completed phase IV trials, focusing on their safety and efficacy, especially with prolonged use. Key antibiotics, including tobramycin, colistin, meropenem, aztreonam, ceftolozane/tazobactam, ciprofloxacin, and azithromycin, are discussed, emphasizing their use, side effects, and delivery methods. Inhaled antibiotics are preferred for their targeted action and minimal side effects, while systemic antibiotics offer potency but carry risks like nephrotoxicity. The review also explores emerging treatments, such as phage therapy and antibiofilm agents, which show promise in managing chronic infections. Nonetheless, further research is necessary to enhance the safety and effectiveness of existing therapies while investigating new approaches for better long-term outcomes.

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Incidence and Carrier Frequency of CFTR Gene Mutations in Pregnancies With Echogenic Bowel in Nova Scotia and Prince Edward Island

Cited by 3 publications

References 27 publications

Perinatal Outcome of Fetal Echogenic Bowel: A Single-Center Retrospective Cohort Study

Perinatal Outcome of Fetal Echogenic Bowel: A Single-Center Retrospective Cohort Study

Prenatal genetic testing for cystic fibrosis: a systematic review of clinical effectiveness and an ethics review

Therapeutic Interventions for Pseudomonas Infections in Cystic Fibrosis Patients: A Review of Phase IV Trials

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