Echogenic Bowel Research Articles

Echogenic bowel in intrauterine growth restriction fetuses: does this jeopardize the gut?

OBJECTIVE: To investigate the association between intrauterine growth restriction (IUGR) fetuses with echogenic bowel and high resistance in the umbilical artery and increased risk of developing neonatal necrotizing enterocolitis. METHODS: We analyzed two groups: group 1, singleton IUGR fetuses with echogenic bowel or reversed diastolic flow in the umbilical artery, and group 2, neonates who were diagnosed as having neonatal necrotizing enterocolitis. In group 1, the pulsatility index of the superior mesenteric artery and celiac trunk were determined. In group 2, a retrospective analysis was carried out from the medical records of the neonates. RESULTS: Fifteen fetuses with echogenic bowel and severe IUGR were evaluated by Doppler studies, and 21 neonates with neonatal necrotizing enterocolitis were reviewed. In group 1, none of the IUGR fetuses developed neonatal necrotizing enterocolitis, whereas in group 2, only one neonate was defined as IUGR. The mean gestational age at delivery did not differ statistically between the two groups (28.8 ± 2.3 weeks versus 30.1 ± 3.3 weeks), whereas the mean birth weight was significantly lower in the first group (700 ± 200 g versus 1431 ± 466 g in the second group, P < .001). The mean pulsatility index ± standard deviation in the superior mesenteric artery and celiac trunk of the IUGR fetuses were 1.5 ± 0.14 and 1.2 ± 0.17, respectively, both being found significantly lower than those of normal, appropriate controls (1.9 ± 0.15 and 1.7 ± 0.1, respectively, P < .005). CONCLUSION: Fetal echogenic bowel in IUGR fetuses is not associated with development of neonatal necrotizing enterocolitis. In these fetuses, vasodilatation in the superior mesenteric artery and celiac trunk have been demonstrated.

Pyloric atresia associated with multiple intestinal atresias and immune difficiency

A ROUTINE prenatal ultrasound scan on a first pregnancy in parents with history of consanguinity (first cousins) performed at 19 weeks of gestation showed a cystic mass in the upper abdomen, separate from the stomach. There was a question of distended bowel loops and possibly a “double bubble” (Fig 1). Amniotic fluid analysis showed the fetus to be a boy with normal chromosomes. Amniotic fluid was normal in amount until 34 weeks of gestation when polyhydramnios was noted. At this time echogenic bowel wall was noted on fetal ultrasound scan. The baby was born at 38 weeks' gestation after an uncomplicated vaginal delivery. Upper abdominal distension was noted, and an abdominal radiograph (Fig 2) showed gastric distension with a gasless abdomen and calcifications in the intestinal loops resembling a “contrast study.” Fig. 2Plain abdominal radiograph at birth. Distended stomach, gasless abdomen, and pathognomonic calcifications of the small intestine resembling a contrast study. View Large Image Figure Viewer Download Hi-res image Barium enema showed a rectal atresia. Abdominal ultrasound scan showed bile duct dilatation as well as cystic dilatation of the duodenum.

Minor sonographic signs of trisomy 21 at 15-20 weeks' gestation in fetuses born without malformations: a prospective study.

A prospective study was performed on 2119 pregnancies that underwent genetic amniocentesis. Indications for amniocentesis were either maternal age (> or =35) or triple-test results (risk> or =1/380). The study covered a 36-month period and assessed the prevalence of minor ultrasound markers both in fetuses with Down syndrome and normal control fetuses at 15-19 week' gestation. Only fetuses with normal karyotype or trisomy 21 were considered. Six minor sonographic markers were considered: nuchal thickness, pyelectasia, femur observed/expected and humerus observed/expected ratios, bowel echogenicity, and choroid plexus cysts. One or more ultrasound soft markers were present in 23 out of 33 fetuses with Down syndrome (70%) and in 572 out of 2069 normal fetuses (28%).

Factors associated with fetal demise in fetal echogenic bowel

Objective: The purpose of this study was to determine risk factors associated with intrauterine fetal demise in fetuses with unexplained echogenic bowel that is diagnosed in the second trimester. Study Design: A retrospective case-control study compared fetuses with echogenic bowel and fetal demise with fetuses with echogenic bowel who were live born. Fetuses affected with cystic fibrosis, aneuploidy, or congenital infection and fetuses diagnosed with major anomalies were excluded. Variables examined in the determination of risk factors for intrauterine fetal demise included intrauterine growth restriction, oligohydramnios, elevated maternal serum alpha-fetoprotein levels, and elevated maternal serum β-hCG levels. Statistical analysis was performed with the Fisher exact test, Student t test, and logistic regression analysis. Results: One hundred fifty-six fetuses met the inclusion criteria. There were 9 cases of intrauterine fetal demise and 147 live born control fetuses. The median gestational age of intrauterine fetal demise was 22.0 weeks (range, 17-39 weeks). Intrauterine growth restriction occurred more frequently in cases of intrauterine fetal demise than in live born infants (22.2% vs 0.7%; P =.009), as did oligohydramnios (44.4% vs 2.0%; P <.001) and elevated maternal serum alpha-fetoprotein levels (80.0% vs 7.7%; P: =.001). With the use of logistic regression analysis, elevated maternal serum alpha-fetoprotein was the strongest independent risk factor that was associated with intrauterine fetal demise (odds ratio, 39.48; 95% CI, 11.04%-141.25%). Conclusion: In our series, there was a 5.8% incidence of intrauterine fetal demise in fetuses with unexplained echogenic bowel. Elevated maternal serum alpha-fetoprotein is the strongest predictor of fetal demise in fetal echogenic bowel. (Am J Obstet Gynecol 2001;185:1039-43.)

The clinical significance of fetal echogenic bowel

Objective: The purpose of this study was to determine the incidence of cystic fibrosis, aneuploidy, and intrauterine infection with toxoplasmosis and cytomegalovirus in second-trimester fetuses with the sonographic finding of echogenic bowel. Study Design: All cases of echogenic bowel that were diagnosed in our ultrasound unit from 1993 to 2000 were identified. Only cases in which bowel echogenicity was as bright as bone with no associated major fetal anomalies were included. Patients who were referred from other hospitals were excluded. Echogenicity was classified as focal or multifocal. Fetal karyotypes, cystic fibrosis carrier testing, and maternal serologic test results were determined. Results: One hundred seventy-five fetuses in 171 pregnancies met inclusion criteria. Cystic fibrosis mutations were identified in 7 of 138 mothers (5%) and 9 of 86 fathers (10.5%) who were tested. Five fetuses were affected with cystic fibrosis. Fetal karyotype was obtained in 139 cases, and autosomal trisomy was diagnosed in 5 cases (3.6%). One hundred sixty-six patients were tested for toxoplasmosis, and 111 patients were tested for cytomegalovirus. There were no cases of congenital toxoplasmosis. There was maternal serologic and fetal pathologic evidence of cytomegalovirus infection in 1 case. In all cases of cystic fibrosis and aneuploidy, echogenicity was multifocal; in the case of cytomegalovirus, echogenicity was focal. Conclusion: In our population, mid-trimester fetal echogenic bowel was associated with a high prevalence of cystic fibrosis, aneuploidy, and cytomegalovirus (11/175 fetuses [6.3%]). This information should be considered when counseling patients after mid-trimester echogenic bowel is diagnosed. (Am J Obstet Gynecol 2001;185: 1035-8.)

Wide iliac angle and short limbs. The best marker for Trisomy 21?

Aim: • To create a standard protocol for measuring the posterior angle of the iliac crests. • To construct a score based upon the iliac angle and fetal proximal long bone lengths. • To compare results between fetuses affected by Trisomy 21 and those unaffected. Methods: Fetal morphology and biometry including biparietal diameter, humeral length and femur length were assessed between 15 and 23 weeks gestation according to standard protocol. A symmetrical image of the transverse plane of the iliac wings demonstrating the widest angle and the longest length of the iliac bones was recorded. This view was best obtained with the ultrasound beam perpendicular to the long axis of the fetal spine and perpendicular to the skin line, imaged from posteriorly. It can also be obtained from an anterior aspect. The iliac angle was measured from the internal angle at the intersection of tangential lines drawn along the posterior iliac crests.Results: A total of 2998 fetuses, 30 with Trisomy 21 and 2968 unaffected fetuses (902 had amniocentesis) were assessed. There was a significant difference (16.78° (95% CI 16.694; 16.846)) between the mean iliac angle for Trisomy 21 fetuses (94.33 ± 7.2°) and unaffected fetuses (77.55 ± 8.86°). The total of 90° was selected as cut‐off. The 22 of 30 (83%) Trisomy 21 fetuses and 228 of 2968 (7.7%) unaffected had iliac angle greater than or equal to 90° (sensitivity 83%, specificity 92.3%). A previous study in our unit had shown that short proximal long bones occurred in 41 of 71 (58%) Trisomy 21 fetuses and 609 of 9022 (6.7%) of a low risk unaffected group (unpublished data). Iliac angle greater than or equal to 90° scored one. Short proximal long bones also scored one. A positive index was a score of 2. The 14 of 30 (46.7%) Trisomy 21 fetuses and 29 of 902 (3.2%) known unaffected fetuses had a score of 2. The likelihood ratio for positive limb–iliac index is 14 (46.7/3.2).Conclusions: In screening for Trisomy 21, the prevalence and likelihood ratio of fetal anomaly (29%, 96), nuchal skin fold (39%, 11), echogenic bowel (20%, 2), renal pelvic dilatation (20%, 4.2), echogenic intracardiac focus (35%, 2.6) and short long bones (58%, 1.9) are known for our population. A positive iliac angle/limb length score has a prevalence of 47% and likelihood ratio of 14. In our population, this combination surpasses the performance of other markers.

Antenatal diagnosis of the absent inferior cerebellar vermis – is there any clinical significance?

Objective: The clinical significance of antenatal ultrasound diagnosis of the absent inferior cerebellar vermis (AICV), whether isolated or associated with other ultrasound findings, has not been well‐understood with limited research previously. Because of its association with some syndromes, e.g. Dandy–Walker or Walker–Warburg syndromes, we aim to study the outcome for the purpose of counseling of parents when this is diagnosed antenatally.Methods: A single‐center, prospective observational study of screening scans of a low risk population was conducted from 1 October 1996 to 30 September 2000. Cases of AICV diagnosed were followed up postnatally for up to 4 years with cranial ultrasound and developmental assessments.Results: There were 56 746 screening scans on 64 225 babies delivered during this period. Twenty‐eight cases of AICV were diagnosed between 19 and 34 weeks. Six had isolated AICV and all occurred in women less than 35 years old. All had normal outcome and developmental assessment on follow up. The other 22 were associated with other ultrasound findings like echogenic bowel, structural heart defects or Dandy–Walker malformation. Four of them occurred in mothers 35 years and older with three (75%) having abnormal karyotype. Five occurred in mothers aged 30–34 years with two (40%) having abnormal karyotype. Of the remaining 13 in those less than 30 years, five (38%) had abnormal karyotype. These include trisomy 13 and 18, Turner and Goldenhar syndrome.Conclusion: The antenatal diagnosis of the isolated AICV is associated with low risk of chromosomal abnormalities and thus, does not require further karyotypic analysis. However, if other ultrasound findings are also seen, an abnormal karyotype can be expected in up to 38% of the patients (in our series), and even more (75%) if the maternal age is 35 years and above. Karyotyping should be offered in these cases.

Counselling impact of three-dimensional imaging in perinatal consultation

Objective The medical and emotional impact of three-dimensional imaging will be reviewed in the context of perinatal consultation.Methods A literature review on three-dimensional (3D) imaging is compared to our experience with consecutive patients referred for perinatal consultation. High-resolution two-dimensional (2D) scanning and concurrent volume-mode imaging (Aloka 1700) were available for all patients. Informed consent for three-dimensional use was obtained to document patient acceptance. Patients with superficial defects underwent typical surface rendering, with images obtained by mechanical sweep in less than 4 s. Patients with defects requiring internal rendering underwent imaging with a new sectional technique similar to ‘tomogram’ slices. This rapidly produces volume-rendered images in a single plane with unique three-dimensional characteristics. No post-image processing was required, allowing immediate patient feedback. All patients were followed to delivery. Post-delivery neonatal images were obtained when possible. A follow-up patient survey is reported.Results Of 1639 consecutive patients, 2.9% were preconceptual, leaving 1591 available for high-resolution 2D scanning and concurrent volume-mode imaging (Aloka 1700). Abnormal ultrasound findings (positive examinations) were found in 537 of the 1591 ultrasound patients (33.7%). The percentage of positive scans ranged from 2% (1/50) for patients referred only for ‘3D’ to 67.2% for patients referred for a previous suspected abnormality on screening ultrasound (236/351). There were 386 patients with structural fetal abnormalities potentially amenable to volume rendering (24.2%). Consistently improved counselling occurred for major abnormalities such as chromosomal defects (14/14), abdominal wall defect (11/11), neural tube defect (11/11), cystic hygroma/lymphangioma (9/9), skeletal dysplasia (5/5), hydrops (7/7), ovarian mass (6/6), myoma (11/14) and fetal chest mass (5/5). Moderate image concordance was seen for nuchal thickness (4/8), renal dysgenesis and dilatation (37/76), and placental mass or separation (28/49). Lowest concordance was seen for ‘soft’ findings such as echogenic bowel (0/15), isolated single umbilical artery (0/9) and isolated choroid plexus cysts (4/34). If we include all ultrasound patients, 3D imaging had added counselling value in 10.5% of consultative visits. In a post-delivery follow-up interview, patient acceptance was high (no refusals) and up to 87% of patients felt the 3D imaging was ‘successful’. Despite this high acceptance, only 61 % thought 3D imaging should be used in routine obstetric ultrasound. The highest stated concern for routine use would be the potential added charges of the examination.Conclusion Volume-mode imaging of fetal abnormalities can provide powerful visual concordance for discussing normal and abnormal fetal development. Complex syndromes with superficial and deep architecture are accessible with a simple volume-mode planar scanning technique. Care must be taken to consider this tool as advanced practice sonography as the potential emotional and financial impact of routinely adding three-dimensional imaging is not yet understood.

Use of genetic sonography in screening for trisomy 21.

everal studies have been published regarding the accuracy of second-trimester genetic sonography in the prenatal detection of fetuses with trisomy 21. A secondtrimester genetic sonogram is a targeted examination for the presence of fetal structural anomalies as well as other aneuploidy markers, such as short femur, short humerus, pyelectasis, increased nuchal fold thickening, echogenic bowel, hypoplastic middle phalanx of the fifth digit, and sandal gap. By combining multiple sonographic markers and by defining as abnormal any sonographic finding of 1 or more aneuploidy markers, several investigators have achieved detection rates (sensitivities) for fetal trisomy 21 between 60% and 91%. Because of these high detection rates, we as well as others have advocated the use of genetic sonography as an adjunct to maternal age and maternal serum screening to adjust the risk and, therefore, to modify clinical management for patients who are at high risk for fetal trisomy 21. However, there is a paucity of data regarding the impact of such management modification. The article by DeVore and Romero 1 in this issue is a step in the right direction, and it provides invaluable information regarding the impact of genetic sonography as a screening tool for patients younger than 35 years who are at high or “moderate” risk for fetal trisomy 21 after triple-marker screening. The impact of genetic sonography was measured in terms of monetary and nonmonetary benefits, such as total costs, costs per detected fetus with trisomy 21, number of amniocenteses required to identify a single fetus with trisomy 21, and number of fetuses without abnormalities who were lost after amniocentesis.

Obstetric ultrasonographic findings and fetal chromosomal abnormalities: Refining the association

Objective: In an attempt to refine the role of ultrasonography in screening and identifying fetuses at risk for chromosomal abnormalities, a retrospective review of patients undergoing genetic amniocentesis was undertaken. Study Design: Computer databases from the perinatal biology laboratory and cytogenetics laboratory of our institution were correlated to compare the results of the fetus’ ultrasonographic examination with the cytogenetic results from amniocentesis. Univariate and multivariate analysis were used to determine the best correlations between ultrasonographic findings and chromosomal abnormalities (study 1). The results were used to construct regression analysis formulas and a Neural Network program to predict the presence or absence of chromosomal abnormalities in a second set of patients (study 2) undergoing genetic amniocentesis. Results: One hundred twenty-five chromosomal abnormalities were found in 3775 fetuses in study 1 (3.3%). Multivariate analysis showed significant correlations between anomalies of the central nervous system, heart, face and neck, and extremities and increased nuchal fold, increased bowel echogenicity, abnormal biparietal diameter–to–femur ratio, and the presence of chromosomal abnormalities. Regression equations and a Neural Network program successfully predicted the presence or absence of fetal chromosomal abnormalities in a second set of 901 at-risk fetuses. Conclusion: A normal ultrasonographic examination result in patients who are at increased risk for fetal chromosomal abnormalities reduces the risk 2- to 3-fold, whereas the presence of any major ultrasonographic abnormality or certain minor abnormalities significantly increases the risk. The application of these results to low-risk patients is still premature. (Am J Obstet Gynecol 2001;184:1414-21.)

Second-trimester ultrasound to detect fetuses with Down syndrome: a meta-analysis.

Second-trimester prenatal ultrasound is widely used in an attempt to detect Down syndrome in fetuses, but the accuracy of this method is unknown. To determine the accuracy of second-trimester ultrasound in detecting Down syndrome in fetuses. English-language articles published between 1980 and February 1999 identified through MEDLINE and manual searches. Studies were included if they recorded second-trimester findings of ultrasonographic markers, chromosomal abnormalities, and clinical outcomes for a well-described sample of women. A total of 56 articles describing 1930 fetuses with Down syndrome and 130 365 unaffected fetuses were included. Articles were independently reviewed, selected, and abstracted by 2 reviewers. Discrepancies in data abstraction were resolved by consensus with a third reviewer. Overall estimates of sensitivity, specificity, and positive and negative likelihood ratios were calculated for the following markers: choroid plexus cyst, thickened nuchal fold, echogenic intracardiac focus, echogenic bowel, renal pyelectasis, and humeral and femoral shortening. Results were stratified by whether markers were identified in isolation or in conjunction with fetal structural malformations. When ultrasonographic markers were observed without associated fetal structural malformations, sensitivity for each was low (range, 1%-16%), and most fetuses with such markers had normal outcomes. A thickened nuchal fold was the most accurate marker for discriminating between unaffected and affected fetuses and was associated with an approximately 17-fold increased risk of Down syndrome. If a thickened nuchal fold is used to screen for Down syndrome, 15 893 average-risk women or 6818 high-risk women would need to be screened for each case of Down syndrome identified. For each of the other 6 markers, when observed without associated structural malformations, the marker had marginal impact on the risk of Down syndrome. Because the markers were detected in only a small number of affected fetuses, the likelihood of Down syndrome did not decrease substantially after normal examination findings (none of the negative likelihood ratios were significant). A thickened nuchal fold in the second trimester may be useful in distinguishing unaffected fetuses from those with Down syndrome, but the overall sensitivity of this finding is too low for it to be a practical screening test for Down syndrome. When observed without associated structural malformations, the remaining ultrasonographic markers could not discriminate well between unaffected fetuses and those with Down syndrome. Using these markers as a basis for deciding to offer amniocentesis will result in more fetal losses than cases of Down syndrome detected, and will lead to a decrease in the prenatal detection of fetuses with Down syndrome.

The subjective assessment of echogenic fetal bowel.

To assess the subjective interpretation of the echogenicity of fetal bowel compared to bone from antenatal ultrasound images taken during examinations conducted between 17 and 22 weeks of gestation. Eighty-seven women attending for their antenatal scan were selected in a random prospective manner over a 9-month period. Images of the fetal bowel were taken and evaluated by 10 sonographers, one consultant obstetrician and one consultant radiologist. Images from a further 13 fetuses, in which the subjective assessment of echogenic bowel was made, were also included. All ultrasound images were acquired on a dedicated ultrasound scanner, with a standard transducer, thermal paper printer and single operator using standardized equipment settings and reproducible image sections. Questionnaires with 100 sets of images of fetal bowel were distributed to the participants. Performance was assessed by means of percentage agreement and levels of chance corrected agreement (Kappa). The subjective assessment of fetal bowel echogenicity is very variable. Intra- and inter-observer variation discrepancies in the assessment of bowel echogenicity compared to bone were demonstrated between the sonographers. Good agreement was identified between the consultants with good to almost perfect intra-observer agreement. Overall, only moderate agreement was observed between the sonographers and the consultants. The lack of agreement demonstrated between sonographers when evaluating the echogenicity of fetal bowel should be addressed if this ultrasound marker is to be incorporated into routine fetal screening programs.

Fetal echogenic bowel: parameters to be considered in differential diagnosis.

To evaluate the extent that associated findings aid in the differential diagnosis and/or prognosis of fetal echogenic bowel. Medical history, obstetric records and outcome details were examined for 131 consecutive pregnancies with fetal hyperechogenic bowel. In 62 (47%) cases, there were no visible anomalies other than hyperechogenic bowel and no evidence of growth restriction. This group included four (7%) pregnancies with Down syndrome, 15 (24%) with infection or a recent episode of influenza and eight (13%) with blood staining of amniotic fluid. In the remaining 69 (53%) cases, hyperechogenic bowel was accompanied by hydrops or nuchal edema (n = 16, 12.2%), growth restriction (n = 9, 6.9%), other markers for chromosome anomalies (n = 33, 25.2%) or multiple structural anomalies (n = 11, 8.4%). In this group, the prevalence of Down syndrome was 12%, infection or influenza was reported in 14 (20%) cases and there was blood staining of amniotic fluid in seven (10%). Cystic fibrosis screening was performed in 65 (50%) pregnancies; the results were negative in all cases and clinical assessment did not indicate cystic fibrosis in any of the 91 infants who were born alive. Maternal serum screening was performed in 41 (31%) pregnancies. High alpha-fetoprotein levels were associated with multiple abnormalities or severe growth restriction. In many pregnancies with fetal hyperechogenic bowel, there are multiple factors that may explain these findings. Thus identification of one potential underlying cause should not preclude further testing. Once chromosome defects, cystic fibrosis, structural abnormalities, infection and growth restriction have been excluded, parents can be counseled that the prognosis is good, irrespective of the presence or absence of blood stained amniotic fluid.

Ultrasonographic markers for chromosomal abnormalities in women with negative nuchal translucency and second trimester maternal serum biochemistry.

To analyze the value of second trimester ultrasound examination among those women whose fetuses were indicated to be at low risk of chromosomal anomalies on the basis of both first trimester nuchal translucency measurement and second trimester biochemical screening. A retrospective study of 5500 pregnancies carried out at the fetal medicine unit, Royal Free Hospital. During a period of over 3 years 5500 pregnancies underwent a first trimester scan and nuchal translucency measurement which enabled the detection of 62% (20 of 32) of all chromosomal anomalies. From the remaining pregnancies that underwent second trimester biochemical screening, 3548 were considered negative (risk < 1:250; using maternal serum free beta human chorionic gonadotrophin and alpha fetoprotein). The ultrasound markers that were examined were: shortened femur length, echogenic bowel, pyelectasis, choroid plexus cysts and echogenic intracardiac foci. The likelihood ratios for chromosomal aneuploides for each of these markers were calculated. Of the 3548 screen negative pregnancies, 3541 (99.8%) had a normal karyotype. Seven (0.2%) fetuses had an abnormal karyotype including four (0.11%) with trisomy 21, one with trisomy 18 and two with 47XXY. Second trimester ultrasound markers were found in two of the five (40%) with severe chromosomal anomalies compared to 184 of 3541 (5.2%) with normal karyotypes. Detection of one or more ultrasound markers in a screen negative pregnancy increased the possibility of chromosomal aneuploidy and a negative ultrasound decreased the risk by a likelihood ratio of 0.6 (95% confidence interval, 0.3-1.3). The risk was considerably increased when two or more markers were detected and we would recommend karyotyping under these circumstances. This preliminary data indicates a possible role for abnormal ultrasound markers in assessing the risk of chromosomal abnormalities in patients considered to be at low risk by nuchal translucency and serum screening. However analysis of a much larger study group will have to be conducted to assess the significance of individual markers.

Prenatal diagnosis P11Fetal scanning between 18 and 22 weeks is passé

Our study summarizes about 40000 early transvaginal examinations (14–16 weeks gestation). There were more than 1200 anomalous fetuses which demonstrated more than 1700 anomalies. We analysed the anomalies according to (1) early onset anomalies, (2) transient anomalies which disappeared toward the second trimester (nuchal findings, echogenic bowel, hypospadias., etc.), (3) anomalies which are much more easily detected in early pregnancy (vascular ring, rt. aortic arch, coarction, finger anomalies, kidney anomalies and others), (4) abnormalities which appear or manifest only in late pregnancy (lissencephalos, achondroplasia, etc.).ConclusionsThe percentage of late onset abnormalities is lower than for transient abnormalities. Therefore, performing only one examination by an expert will detect 97% of the detectable abnormalities in early pregnancy. Performing only one examination between 18 and 22 weeks will reveal a lower rate of the detectable anomalies. Most of the late onset anomalies appear later than the 22rd week of gestation. Therefore, the 18–22 week scan is passé and should give way to the 14–16 week TVS scanning in the search for fetal anomalies.

WS14‐05Technique of ‘three‐dimensional’ volume mode sectional planar imaging

BackgroundThree‐dimensional imaging of superficial fetal abnormalities is well established. We prospectively evaluated if a technique of sectional planar imaging could interrogate nonsurface fetal abnormalities without changing transducers or requiring postrendering software.MethodPatients referred for perinatal consultation received traditional 2‐D scanning and simultaneous volume mode imaging. Fetal abnormalities were visualized with a sectional technique similar to ‘tomogram’ slices. No post image rendering manipulation was required. Twelve patients had correlative MRI scanning. Neonatal images were obtained when possible.ResultsStructural fetal abnormalities amenable to volume rendering were found in 192 of 600 referral patients. Of these, 49% (94/192) benefited from 3‐D planar imaging. Consistently improved counseling occurred with abdominal wall defect (11/11), cystic hygroma (8/8), neural tube defect (8/8), skeletal dysplasia (5/5), hydrops (5/5), ovarian mass (4/4), myoma (9/11), and fetal chest mass (2/3). Moderate image concordance was seen for nuchal thickness (4/8), renal dysgenesis (27/50), and placental mass or separation (7/12). Lowest concordance was seen for echogenic bowel (0/17), isolated SUA (0/9), and CPC (4/41).ConclusionComplex syndromes with superficial and deep architecture are accessible with a simple volume mode planar scanning technique. The additional information is immediately available and useful in counseling of these syndromes.

Intestinal atresia.

Intestinal atresia accounts for about one third of all cases of neonatal intestinal obstruction. The survival rate has improved to 90% in most of the series with the operative mortality being < 1%. The survival rate improves with distal atresias. An increased mortality is observed in multiple atresias (57%), apple peel atresia (71%), and when atresia is associated with meconium ileus (65%), meconium peritonitis (50%) and gastroschisis (66%). Although appearance of echogenic bowel on prenatal ultrasonography is suggestive of GI, it is confirmed in only 27% cases. Prenatal ultrasonography is more reliable in detection of duodenal atresia than more distal lesions. Short bowel syndrome is the major impediment in the management of jejunoileal atresia. Although total parenteral nutrition (TPN) is the main adjunctive treatment, it delays intestinal adaptation and may cause cholestasia and subsequent liver damage. Graduated enteric feedings, use of growth hormone, glutamine and modified diets containing low fat, complex carbohydrates and protein supplements have been used in a adults with short bowel syndrome to successfully diminish TPN requirements and enhance nutrient absorption in nearly half of the patients. Utilization of growth factors to facilitate intestinal adaptation and advances in small bowel transplant may improve the long-term outcomes in future.

THE CLINICAL SIGNIFICANCE OF ISOLATED FETAL ECHOGENIC BOWEL

OBJECTIVE: To determine the incidence of aneuploidy, cystic fibrosis (CF), and intrauterine infection with toxoplasmosis and cytomegalovirus (CMV) in second-trimester fetuses with the sonographic finding of isolated echogenic bowel.STUDY DESIGN: All cases of echogenic bowel diagnosed in our ultrasound unit from 1993-1999 were reviewed. Only cases in which echogenicity was as bright as bone were included. Cases with associated fetal anomalies diagnosed with ultrasound were excluded. Echogenicity was classified as focal or multifocal.RESULTS: Echogenic bowel was diagnosed in 250 patients during the study period. The study is limited to the 180 patients who were receiving prenatal care at our hospital. To date, follow-up has been obtained on 104 patients with isolated fetal echogenic bowel. The mean gestational age at diagnosis was 18.6 ± 2.1 weeks (range 14-24 weeks) and the mean maternal age was 32.1 ± 5.9 years (range 15-47 years). CF mutations were identified in 6 of 79 (7.6%) mothers and 5 of 58 (8.6%) fathers who were tested. Follow-up is available for 5 of 8 pregnancies in which at least one parent was found to carry a CF mutation. Three fetuses were affected with CF and one was found to be a carrier. Parents of affected fetuses were not known carriers prior to the diagnosis of echogenic bowel. Fetal karyotype was obtained in 87 cases and autosomal trisomy was diagnosed in 3 (3.4%). One fetus was infected with CMV demonstrated by maternal serology and inclusion bodies characteristic of CMV infection in the autopsy specimen. In all cases of CF and aneuploidy, echogenicity was multifocal; in the case of CMV, echogenicity was focal.CONCLUSION: Serious conditions were diagnosed in 7 out of 104 patients with isolated echogenic bowel: cystic fibrosis 3, autosomal trisomy 3, and CMV infection 1. There was a multifocal pattern of echogenicity in CF affected and trisomic fetuses.

The frequency and clinical significance of the S1235R mutation in the Cystic Fibrosis Transmembrane Conductance Regulator gene: results from a collaborative study

More than 850 mutations in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene have been reported to the Cystic Fibrosis (CF) Consortium. A missense mutation, S1235R, was originally reported in a CF patient with a second mutation (G628R) on the same chromosome. The clinical significance of S1235R was not clear. S1235R is not among the commonly reported mutations, and it is not routinely screened for in most laboratories. However, we have identified this variant in our laboratories at a higher frequency than many of the other CF mutations. Among more than 3,000 patients tested for either a possible diagnosis of CF or to determine CF carrier status, we identified 50 patients heterozygous for S1235R. No patients were homozygous for S1235R. The allele frequency of S1235R in this population (∼1%) was higher than that of the G551D or G542X CF mutations. Patients found to carry S1235R ranged in age from 1 day to 73 years. Indications for testing included rule out CF (15 cases), prenatally diagnosed echogenic bowel (2 cases), meconium ileus/obstruction at birth (3 cases), carrier screening with a positive family history (11 cases), carrier screening with a negative family history (17 cases) and unknown (2 cases). Four patients were compound heterozygotes for a second CFTR mutation: 2 cases (one family) were N1303K/S1235R and 2 unrelated cases were AF508/S1235R. Clinical data on those patients will be presented. No patient tested so far (N=31) carried the G628R CFTR mutation.Our data suggests that S1235R, when combined with a second CF mutation, may be pathogenic, although phenotypic manifestations appear to be variable. However, the possibility that this represents a rare polymorphism cannot be discounted completely. Genetic counseling issues are difficult when S1235R is identified, even in the presence of a second known mutation, especially in prenatal cases.

Antenatal diagnosis of mixoploidy: a case report

Diploid triploid mosaicism, or mixoploidy is a rare perinatal diagnosis. It is characterized by multiple congenital anomalies including mental and growth retardation, facial and body asymmetry, malformed or low set ears, 3-4 finger syndactyly, and ambiguous genitalia (in males). Areas of hyper- and hypo-pigmentation have also been described. The more severe brain, renal, cardiac and ocular anomalies associated with complete triploidy are not apparent in mixoploid individuals. We present a case of antenatal diagnosis by FISH analysis. The index case was a 26yo G2P1 female referred for ultrasound evaluation at 36 weeks secondary to an abnormal aortic arch. Ultrasound findings included echogenic bowel and significant growth deceleration. A 6-week abdominal growth lag was apparent. A review of the patient's records indicated that growth retardation was evident as early as 26 weeks. An amniocentesis was performed for chromosome analysis and lung maturity. Lung maturity was confirmed. FISH was performed for chromosomes 13, 18 and 21 in addition to routine karyotyping. Out of 179 cells, 36 showed 3 signals for chromosome 18. Out of 104 cells, 19 showed 3 signals each for chromosome 13 and 21. Mixoploidy was confirmed by standard karyotype techniques 1 week later. The mother was delivered within 24 hours of receiving the FISH results. Growth retardation, low set ears and 3-4 finger syndactyly were all present at birth. Cord blood and peripheral blood analysis confirmed the diagnosis of mixoploidy. The findings “disappeared” on peripheral blood by 8 wks. Growth restriction has long been recognized as a feature of chromosome abnormalities. We propose that persistent growth asymmetry be considered part of this sequence as well. Review of the prenatal findings of other affected children may help delinete the prenatal phenotype further. The disappearance of the mosaic cell line in the blood makes the prenatal setting the optimal choice.