Increased echogenicity in the fetal abdomen: use of DNA analysis to establish a diagnosis of cystic fibrosis

Hogge, W. Allen; Hogge, Joan S.; Boehm, Corinne D.; Sanders, R C

doi:10.7863/jum.1993.12.8.451

Cited by 15 publications

(6 citation statements)

References 6 publications

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“…Echogenic fetal bowel is an observation with numerous reported associations in the literature, including aneuploidy, cystic fibrosis, congenital infection, intrauterine growth restriction, bowel atresia, intraamniotic bleeding, and poor perinatal outcome. [1][2][3][5][6][7][8][9][10][11][12][13][14][15][16][17][18] The patients enrolled in our study were chosen from a low risk outpatient population. Patients with abnormal serum or amniotic fluid alpha-fetoprotein levels, maternal infection, and family history of chromosomal abnormality, cystic fibrosis, or bowel abnormality were excluded.…”

Section: Discussionmentioning

confidence: 99%

“…Current recommendations include amniocentesis, targeted sonography, fetal monitoring, and testing for cystic fibrosis. [1][2][3][5][6][7][8]13,14,19 However, these recommendations are based on the results of previous studies, which employed transducer frequencies of 5 MHz or less. Our study demonstrates that echogenic fetal bowel is a very common finding when the sonogram is performed with an 8 MHz transducer.…”

Section: Discussionmentioning

confidence: 99%

“…[1][2][3]7,12,14 Because of the ominous associations that have been reported with this abnormality, many clinicians believe that the observation of echogenic bowel should prompt further testing, including targeted sonography, amniocentesis, fetal monitoring, and genetic testing for cystic fibrosis. [1][2][3][5][6][7][8]13,14,19 To date, all of the published studies investigating the significance of increased bowel echogenicity have been performed using ultrasound transducers with frequencies of 5 MHz or lower. In most of these studies, the criterion for diagnosing echogenic bowel was an echogenicity similar to or greater than that of bone (spine or iliac wing).…”

mentioning

confidence: 99%

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Effect of ultrasound transducer frequency on the appearance of the fetal bowel.

Vincoff

Smith‐Bindman

Goldstein

1999

Journal of Ultrasound in Medicine

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We evaluated how ultrasound transducer frequency affected the appearance of the fetal bowel. One hundred women with singleton pregnancies, who were undergoing routine ultrasonographic examination, were assessed at a single institution. Patients with known fetal anomalies, abnormal biochemical screening results, or a history of cystic fibrosis were excluded. Images of the fetal abdomen were obtained in all patients using a single multi-Hertz transducer, with transducer frequencies set at 5 MHz and 8 MHz. Images were read separately by two radiologists, blinded to patient name and transducer frequency. Observers rated the presence or absence of echogenic bowel, defined as bowel with echogenicity greater than or equal to that of adjacent bone. Using the 8 MHz frequency, the radiologists interpreted 31% of the cases as having echogenic bowel, whereas using the 5 MHz frequency, the radiologists interpreted only 3% of the cases as having echogenic bowel (P<0.0001). A fetus was 10 times as likely to be given a diagnosis of echogenic bowel by both observers when the 8 MHz transducer was used than when the 5 MHz transducer was used by one observer (relative risk 10, 95% CI 3-11). Furthermore, using the 8 MHz frequency transducer, at least one of the radiologists interpreted echogenic bowel in 62% of the cases. We concluded that echogenic fetal bowel is a very common observation when imaging is performed with an 8 MHz transducer, and thus echogenic bowel diagnosed with an 8 MHz transducer is unlikely to reflect underlying abnormality. Identification of echogenic bowel with an 8 MHz transducer should not prompt further testing.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

mentioning

confidence: 99%

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Effect of ultrasound transducer frequency on the appearance of the fetal bowel.

Vincoff

Smith‐Bindman

Goldstein

1999

Journal of Ultrasound in Medicine

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“…This highlights the need for assessing parental status for the parental carrier screening for CF in order to stratify the risk for the fetus. 41,42 Congenital infections have also been associated with EB in the published literature. 13,19 Fetuses with congenital infections, especially…”

Section: Implications For Clinical Practicementioning

confidence: 99%

Outcome of fetal echogenic bowel: A systematic review and meta‐analysis

et al. 2021

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The main aim of this systematic review was to explore the outcome of fetuses with isolated echogenic bowel (EB) on antenatal ultrasound. Inclusion criteria were singleton pregnancies with isolated EB no associated major structural anomalies at the time of diagnosis. The outcomes observed were: chromosomal anomalies, cystic fibrosis (CF), associated structural anomalies detected only at follow-up scans and at birth, regression during pregnancy, congenital infections, intrauterine (IUD), neonatal (NND) and perinatal (PND) death. Twenty-five studies (12 971 fetuses) were included. Chromosomal anomalies occurred in 3.3% of the fetuses, mainly Trisomy 21 and aneuploidies involving the sex chromosomes. Cystic fibrosis occurred in 2.2%. Congenital infections affected 2.2%, mainly congenital Cytomegalovirus (CMV) infection. The majority of fetuses with EB experienced regression or disappearance of the EB at follow-up scans. Associated anomalies were detected at a follow-up scan in 1.8%. Associated anomalies were detected at birth and missed at ultrasound in 2.1% of cases. IUD occurred in 3.2% of cases while the corresponding figures for NND and PND were 0.4% and 3.1%. Fetuses with EB are at increased risk of adverse perinatal outcome, highlighting the need for a thorough antenatal management and postnatal follow-up. Assessment during pregnancy and after birth should be performed in order to look for signs of fetal aneuploidy, congenital infections and associated structural anomalies.

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“…The reported incidence of CF in fetuses with echogenic bowel depends on the prior risk of the parents, with risks of 40% reported in populations where both parents are known to be carriers and of about 1% in low risk populations [66] , but the absence of family history should not be considered as reassuring, as the fetus may be an index case [60,61,66,[73][74][75][76][77][78][79][80][81] .…”

Section: Fetal Bowel Hyperechogenicity and Cystic Fi Brosis Riskmentioning

confidence: 99%

Diagnostic CFTR mutation analysis

D’Apice

Novelli

Sangiuolo³

2008

Expert Opinion on Medical Diagnostics

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The aim of this review is to provide an overview of the current scientific thinking on the molecular diagnosis of cystic fibrosis (CF). The paper describes current practices and technologies regarding the molecular analysis of the CF disease-causing mutations. So far, several mutations within the CFTR gene have been reported; all of them show huge frequency variability between different countries and also within the same country. Two different and subsequent levels of molecular tests can be offered to CF patients. The first consists of a rapid routinely screened panel of mutations that can be articulated on the basis of the regional prevalence. The second level refers to a scanning of the entire coding region of the CFTR gene including the exon/intron junctions and a large deletion analysis for detecting those mutations escaping from sequence analysis. Second-level analysis permits an increase in the detection rate to about 10%. Internal and external quality controls must always be adopted to obtain a good quality standard. Several innovative and elaborate technologies have been developed in different laboratories to increase the percentage of CF alleles that are detectable. Once this goal is reached, a more accurate calculation of risk recurrence will improve and strengthen the value of the genetic counselling, helping CF families in their reproductive options.

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Increased echogenicity in the fetal abdomen: use of DNA analysis to establish a diagnosis of cystic fibrosis

Cited by 15 publications

References 6 publications

Effect of ultrasound transducer frequency on the appearance of the fetal bowel.

Effect of ultrasound transducer frequency on the appearance of the fetal bowel.

Outcome of fetal echogenic bowel: A systematic review and meta‐analysis

Diagnostic CFTR mutation analysis

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