Prenatal diagnosis of cystic fibrosis. II. Meconium ileus in affected fetuses

Müller, Françoise; Aubry, M. C.; Gasser, Bernard; Duchatel, F.; Boué, J; Boué, A

doi:10.1002/pd.1970050204

Cited by 65 publications

(28 citation statements)

References 10 publications

(6 reference statements)

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“…Figure 1 shows the ultrasonographic ap pearance of this mass. The abnormal ultra sonograms recorded from 197 patients at risk for cystic Fibrosis were characterized by a highly echogenic, quite round, clearly out lined mass without posterior shadowing, lo cated in the right iliac fossa or above the blad der [5,11,15]. The results are seen in table 1.…”

Section: Methodssupporting

confidence: 53%

“…At this time meconium plugging occurs in affected fetuses, preventing passage of en zymes into the amniotic fluid. Thus far, an amniotic fluid enzyme profile below the first percentile has been uniformly associated with cystic fibrosis, while values between the first and fifth percentile have been strongly sugges tive, but in no way invariably predictive of cystic fibrosis [11,13,14], In 1984, we reported an association be tween an ultrasonically noted hyperechogenic bowel and cystic fibrosis [15]. Since 1987, we have evaluated fetuses at a 1:4 risk for cystic fibrosis.…”

Section: Introductionmentioning

confidence: 94%

“…), is quite invariable [5,11,16] but gives rise to inconstant and poorly specific ultrasonographic aspects. This bowel obstruc tion seems to be a constant but transitory finding, while meconium ileus is not so fre quent at term.…”

Section: Gallbladdermentioning

confidence: 99%

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Prenatal Diagnosis of Cystic Fibrosis: Ultrasonography of the Gallbladder at 17–19 Weeks of Gestation

et al. 1993

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We have investigated the ultrasonographic signs that can help in the prenatal diagnosis of cystic fibrosis in 197 risk fetuses and compared them with 353 control fetuses. In 60 fetuses with a 1:4 risk for the disease, the gallbladder was also examined. All ultrasonograms were performed just before amniocentesis at 17–19 weeks of gestation. A previously described intra-abdominal hyperechogenic mass was found in 73% of the 48 affected fetuses, but 32 of the 149 unaffected fetuses also had this feature, giving a specificity of 77% and a sensitivity of 78%. When we investigated the gallbladder, we found 9 of the 12 affected fetuses to be without evidence of a gallbladder during the sonographic examination (none of the healthy or control fetuses had such a feature), giving a positive predictive value of 100%, a specificity of 100% and a sensivity of 75%. The combined presence of an abnormal gallbladder and a hyperechogenic intra-abdominal mass yields the same positive predictive value and specificity, but does not improve the accuracy. Ultrasonography appears to be a good additional diagnostic tool for the prenatal diagnosis of cystic fibrosis, especially when the enzyme activities disagree. Furthermore, these results lead us to think that such a finding during routine ultrasonographic examination at 17–29 weeks could be a means of screening for cystic fibrosis. The absence of the gallbladder during the sonographic examination of fetuses at risk for cystic fibrosis at 17–19 weeks of gestation can help in the prenatal detection of the disease.

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Section: Methodssupporting

confidence: 53%

Section: Introductionmentioning

confidence: 94%

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Prenatal Diagnosis of Cystic Fibrosis: Ultrasonography of the Gallbladder at 17–19 Weeks of Gestation

et al. 1993

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“…Caspi et al [1] reported that 3 of 4 fetuses with a positive family history for cystic fibrosis and de creased levels of amniotic fluid (AF) microvillar enzymes had meconium ileus on autopsy. Muller et al [4] described ultrasound findings as the time of second-trimester amniocentesis for the indication of a positive family history of cystic fibrosis. Four fetuses out of the 9 fetuses examined had echogenic bowel.…”

Section: Discussionmentioning

confidence: 99%

“…However, echogenic fetal bowel has also been associated with meconium ileus and/or meconium peri tonitis [1,[4][5][6][7], This association is especially strong in fetuses screened due to a 1:4 risk of cystic fibrosis [1,4], Benacerraf and Chaudhury [8] postulated that echogenic fetal small bowel which persists into the third trimester is more likely to reflect the presence of meconi Supported in part by NIH grant HD24494…”

Section: Introductionmentioning

confidence: 99%

Fetal Echogenic Bowel on Ultrasound: Is There Clinical Significance?

et al. 1994

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Though echogenic fetal bowel has been associated with meconium ileus and/or peritonitis, it may be a normal finding in the second trimester. The purpose of this study is to determine which characteristics might distinguish fetuses ultimately having abnormal outcomes in a population at low risk for cystic fibrosis. Seven fetuses with echogenic bowel were identified: 5 fetuses ≤ 20 weeks gestation (group 1) and 2 fetuses 20–25 weeks gestation (group 2) at diagnosis. Four of 5 group 1 fetuses had resolution of the echogenic bowel during the second trimester. One group 2 fetus had a persistent mass associated with growth deficiency and trisomy 18. The neonatal bowel evaluation was normal in the remaining 2 fetuses although echogenic findings persisted into the third trimester. In a low-risk population, echogenic bowel usually resolves without neonatal sequelae. Even when persistent into the third trimester, echogenic bowel does not uniformly herald an abnormal outcome. Echogenic bowel coexistent with other abnormalities (such as growth deficiency or structural malformations) may be a comarker for aneuploidy.

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Predicting the risk of cystic fibrosis with abnormal ultrasound signs of fetal bowel: Results of a French molecular collaborative study based on 641 prospective cases

Müller¹,

Simon‐Bouy²,

Girodon³

et al. 2002

Am. J. Med. Genet.

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Hyperechogenic fetal bowel is prenatally detected by ultrasound during the second trimester of pregnancy in 0.1-1.8% of fetuses. It has been described as a normal variant but has often been associated with severe diseases, notably cystic fibrosis (CF). The aim of our study was to determine the risk of CF in a prospective study of 641 fetuses with ultrasonographically abnormal fetal bowel and the residual risk when only one mutation is detected in the fetus. Fetal cells and/or parental blood cells were screened for CFTR mutations. Two screening steps were used, the first covering the mutations most frequently observed in French CF patients (mutation detection rate of 70-90%) and, when a CF mutation was detected, a DGGE-sequencing strategy. We observed a 3.1% risk of CF when a digestive tract anomaly was prenatally observed at routine ultrasound examination. The risk was higher when hyperechogenicity was associated with bowel dilatation (5/29; 17%) or with the absence of gall bladder (2/8; 25%). The residual risk of CF was 11% when only one CF mutation was detected by the first screening step, thereby justifying in-depth screening. Mutations associated with severe CF (DeltaF508 mutation) were more frequently observed in these ultrasonographically and prenatally detected CF cases. However, the frequency of heterozygous cases was that observed in the normal population, which demonstrates that heterozygous carriers of CF mutations are not at increased risk for hyperechogenic bowel. In conclusion, fetal bowel anomalies indicate a risk of severe cystic fibrosis and justify careful CFTR molecular analysis.

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Prenatal diagnosis of cystic fibrosis. II. Meconium ileus in affected fetuses

Cited by 65 publications

References 10 publications

Prenatal Diagnosis of Cystic Fibrosis: Ultrasonography of the Gallbladder at 17–19 Weeks of Gestation

Prenatal Diagnosis of Cystic Fibrosis: Ultrasonography of the Gallbladder at 17–19 Weeks of Gestation

Fetal Echogenic Bowel on Ultrasound: Is There Clinical Significance?

Predicting the risk of cystic fibrosis with abnormal ultrasound signs of fetal bowel: Results of a French molecular collaborative study based on 641 prospective cases

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