Sonographically detected hyperechoic fetal bowel: significance and implications for pregnancy management.

OBJECTIVE: The clinical significance of sonographically detected hyperechoic fetal bowel has not been fully established. This report describes the natural history, pregnancy outcome, and associated features of 30 cases of prenatally diagnosed hyperechoic fetal bowel. METHODS: Fetal bowel of similar or greater echogenicity than surrounding bone was considered hyperechoic. Fetuses so diagnosed were compared with matched controls and with our general obstetric population to determine the relative frequencies of cystic fibrosis, perinatal death, fetal growth retardation, and fetal trisomies. RESULTS: The incidence of hyperechoic fetal bowel during the study period was 0.2% (30 of 12,776 fetuses). Four of the 30 fetuses (13.3%) with hyperechoic bowel were found to have cystic fibrosis, as compared with one in 2200 (0.05%) in the general population. Hyperechoic fetal bowel was also associated with increased risks for perinatal death (16.7%, versus 3.8% in matched controls and 1.9% in the general obstetric population) and fetal growth retardation (23.3% versus 1.9% and 5%, respectively). One fetus with hyperechoic bowel had trisomy 18, an incidence of cytogenetic abnormalities of 3.3%. This was not significantly greater than observed in our general obstetric population (1.2%) (P > .25). CONCLUSIONS: The sonographic finding of hyperechoic fetal bowel is associated with an increased risk for cystic fibrosis, perinatal death, and growth retardation. The risk of fetal trisomy in cases of isolated hyperechoic bowel appears small. When detected, hyperechoic bowel should prompt a complete and careful fetal anatomical survey, consideration of parental carrier testing for cystic fibrosis, and serial sonographic assessment of fetal growth, with cytogenetic testing reserved for cases demonstrating other structural malformations.     

The first trimester combined test for aneuploidies – a single center experience

Purpose: We present the results of the systematic application of the first trimester combined test for aneuploidies, in a Romanian center.

Methods: Since October 2009, in Filantropia Hospital in Bucharest, we have systematically been using the FMF (Fetal Medicine Foundation) combined first trimester test to screen for common aneuploidies at 11 to 13?+?6 weeks of gestation. We assessed the crown to rump length (CRL), nuchal translucency, fetal heart rate as well as PAPP-A, and free β-hCG in maternal serum. We evaluated additional first trimester ultrasound markers in most of the cases. The individual risk for aneuploidies was calculated using the FMF algorithm.

Results: Pregnancy outcome is known for 6030 euploid fetuses and 42 aneuploid fetuses from our screening population. The detection rate for trisomy 21 of the combined test was 87.5% for a screen positive rate of 1.96%. All of the trisomy 18 and trisomy 13 cases were detected prenatally. Some of the trisomy 18 cases proved not to be symptomatic in the first trimester.

Conclusions: Our results are similar to those of the main studies on the FMF method of first trimester screening for aneuploidies. Our numbers are small because of limited availability of the very specialized resources involved.     

Subarachnoid space diameter in chromosomally abnormal fetuses at 11–13 weeks’ gestation

Objectives: To examine the subarachnoid space diameters in chromosomally abnormal fetuses at 11–13 weeks’ gestation.

Methods: Stored three-dimensional (3D) ultrasound volumes of the fetal head at 11–13 weeks’ gestation from 407 euploid and 88 chromosomally abnormal fetuses (trisomy 21, n?=?40; trisomy 18, n?=?19; trisomy 13, n?=?7; triploidy, n?=?14; Turner syndrome, n?=?8) were analyzed. The subarachnoid space diameters, measured in the sagittal and transverse planes of the fetal head, in relation to biparietal diameter (BPD) in each group of aneuploidies was compared to that in euploid fetuses. A total of 20 head volumes were randomly selected and all the measurements were recorded by two different observers to examine the interobserver variability in measurements.

Results: In euploid fetuses, the anteroposterior, transverse and sagittal diameters of the subarachnoid space increased with BPD. The median of the observed to expected diameters for BPD were significantly increased in triploidy and trisomy 13 but were not significantly altered in trisomies 21 and 18 or Turner syndrome. In triploidy, the subarachnoid space diameters for BPD were above the 95th centile of euploid fetuses in 92.9% (13 of 14) cases. The intraclass reliability or agreement was excellent for all three subarachnoid space diameters.

Conclusion: Most fetuses with triploidy at 11–13 weeks’ gestation demonstrate increased subarachnoid space diameters.     

Devenir néonatal des fœtus présentant un intestin hyperéchogène

ObjectiveEchogenic bowel (EB) represents 1 % of pregnancy and is a risk factor of fetal pathology (infection, cystic fibrosis, aneuploidy). The aim of our study was to determine the fetuses’ outcomes with isolated EB.Patients and methodsThis is a retrospective study of all patients who presented singleton gestations with a fetal isolated echogenic bowel between 2004 and 2011 in two prenatal diagnosis centers. Search of aneuploidy, infection and cystic fibrosis was systematically proposed as well as an ultrasound monitoring.ResultsOn 109 fetus addressed for isolate echogenic bowel five had other signs associated and 74 had a real isolated echogenic bowel (without dilatation, calcification, intrauterine growth restriction). In 30 cases, the EB was not found. Eighty-five percent of the patients had in the first trimester a screening for trisomy 21. None fetus with isolated EB had trisomy, infection or cystic fibrosis. One fetus died in utero and one newborn died of a metabolic disease without digestive repercussions.Discussion and conclusionThe risk of trisomy 21 and the risk to have a serious disease appear low for the fetus with EB. It does not seem necessary to propose a systematic amniocentesis in case of isolated echogenic bowel.     

Hyperechogenic fetal bowel: a prospective analysis of sixty consecutive cases

A two year prospective analysis of all second trimester fetuses (16–22 weeks of gestation) with hyperechogenic bowel was undertaken. Hyperechogenic fetal bowel (sonographic echogenicity similar to or greater than that of surrounding fetal bone) was diagnosed using strict criteria. Outcome of affected fetuses was ascertained from hospital records, health care workers and autopsy reports, up to six months of age. Sixty consecutive fetuses were identified, of which 48 (80%) were liveborn. Six pregnancies were terminated, four ended with an intrauterine fetal death and two died at birth. The incidence of cystic fibrosis and aneuploidy were each 5%, and there were no cases of congenital infection. Intrauterine growth retardation was recorded in six fetuses (10%), four of whom died perinatally. Eighty-two percent of fetuses (28/34) with isolated hyperechogenic bowel had a normal outcome.     

First-trimester diagnosis of cystic hygroma--course and outcome.

OBJECTIVE: We studied the outcomes of fetuses in whom cystic hygroma was diagnosed in the first trimester of pregnancy through the application of transvaginal ultrasonography. STUDY DESIGN: In the period 1990 to 1991 22 fetuses with cystic hygroma were found. All fetuses had karyotyping and a complete ultrasonographic search for associated anomalies. RESULTS: Aneuploidy was found in seven of 22 fetuses: four trisomy 21, two trisomy 18, and one translocation. Monosomy X was absent in this series. In 15 of 22 cases there was a normal karyotype. In 10 of 15 euploid fetuses the small nonseptated hygroma resolved spontaneously. In four of 15 euploid fetuses other malformations were detected with ultrasonography (i.e., polycystic kidneys, coarctation of the aorta, bladder outlet obstruction, and fetal hydrops). CONCLUSION: Whenever a cystic hygroma is suspected in the antenatal period, even if of small size, a structured and detailed ultrasonographic examination and fetal karyotyping are recommended.     

Cystic fibrosis and chromosome abnormalities associated with echogenic fetal bowel.

OBJECTIVE: To determine the prevalence of cystic fibrosis mutations and chromosome abnormalities in the fetuses of a heterogeneous population of pregnant women referred for prenatal testing for echogenic fetal bowel. METHODS: Fetal or parental samples obtained after a second-trimester sonographic finding of echogenic fetal bowel were submitted to a referral diagnostic laboratory during a 2-year period. Results of DNA testing and karyotyping on these samples were analyzed to determine the prevalence of cystic fibrosis transmembrane reductase gene mutations and chromosome abnormalities. RESULTS: Of 244 cases tested, two fetuses were positive for two cystic fibrosis mutations. This rate (0.8% or two of 244) is 20 times higher than the general white population rate of one per 2500. In a third case, both parents were carriers but the fetus was not tested. Nine (8%) of 113 fetuses tested had one cystic fibrosis mutation. Of 106 fetuses for whom chromosome results were available, three (2.8%) fetuses had a chromosomal abnormality: two had trisomy 21 and one had Klinefelter syndrome. A fourth fetus carried a de novo, apparently balanced, 5;12 translocation. CONCLUSION: These laboratory results are representative of a broad spectrum of clinical settings and indicate a generalized increased risk associated with this sonographic finding. Therefore, when a second-trimester sonographic diagnosis of fetal echogenic bowel is made, fetal testing for both cystic fibrosis and chromosome abnormalities is warranted.     

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.     

Quantitative evaluation of collagen type VI and SOD gene expression in the nuchal skin of human fetuses with trisomy 21

OBJECTIVE: To investigate the involvement of the genes encoding for COL6A1, COLA2 and super-oxide dismutase (SOD) in the mechanism for the retention of subcutaneous fluid in fetuses with trisomy 21. METHODS: During a 7-month period (November 2004-May 2005), human fetal skin from the nuchal region was obtained from euploid fetuses and from fetuses with trisomy 21 following abortions and terminations of pregnancy. Cell cultures were performed from nuchal skin. Quantification of COL6A1, COL6A2, COL6A3 and SOD mRNAs were performed using real-time quantitative RT-PCR. RESULTS: Twelve fetuses were studied between 13-15 and 19-20 weeks of gestation including 7 cases of trisomy 21. A significant overexpression of genes of interest was demonstrated in trisomy 21 fetuses when compared with euploid fetuses, in the first and in the second trimester of pregnancy (p < 0.0001). CONCLUSION: This study demonstrates a homogeneous overexpression of the genes encoding for alpha1 and alpha2 chains of Collagen type VI, and SOD in nuchal skin of human trisomy 21 fetuses. Persistence of this overexpression in the second trimester of pregnancy, despite the absence of an enlarged nuchal translucency (NT), may characterize some compensatory mechanisms.     

Outcomes for fetal echogenic bowel during the second trimester ultrasound

Objective.?To investigate the association between fetal echogenic bowel (FEB) during the second trimester and perinatal outcome.

Methods.?A retrospective chart review of FEB during the second trimester over 3 years.

Results.?A total of 56 women were identified of 9067 screened (0.6%) women. Forty-seven agreed to genetic counseling (84%). Of those, 22 (39%) agreed to an amniocentesis. There were three cases of trisomy 21, one case of trisomy 18 and one case of fetal CMV infection. Twelve fetuses had an adverse outcome (21%), with only three of them having an echogenic bowel as the only finding.

Conclusions.?In our study, almost 80% of the fetuses had an uncomplicated perinatal outcome. FEB was present as the only finding in only 5% of the fetuses with an adverse outcome. A potential association with placental abnormalities and a low prevalence of viral infections was observed. These findings may be of use in counseling parents.     

Predicting the risk of cystic fibrosis with echogenic fetal bowel and one cystic fibrosis mutation

OBJECTIVE: To assess fetal risk for cystic fibrosis when echogenic bowel and one cystic fibrosis mutation are detected. METHODS: A hypothetical cohort of 1000 women with singleton pregnancies and echogenic fetal bowel during the second trimester was used to determine the probability of cystic fibrosis when one cystic fibrosis transmembrane conductance regulator mutation was detected. The risk of cystic fibrosis was calculated using the range of prevalence of cystic fibrosis in fetuses with echogenic bowel reported in the literature. Risk calculations for fetuses of Ashkenazi Jewish, Northern European, African-American, Hispanic, and Asian descent accounted for carrier frequencies and mutation detection rates specific to each ethnic group. RESULTS: As the assumed prevalence of cystic fibrosis increases from 1-25%, the probability that a white fetus with one mutation and echogenic fetal bowel actually has cystic fibrosis increases from 4.8% to 62.5%. Assuming a 2% risk of cystic fibrosis with echogenic fetal bowel, an Ashkenazi Jewish fetus and an Asian fetus with echogenic bowel and one mutation have a 3.1% and 72% risk of cystic fibrosis, respectively. The probability of cystic fibrosis in a nonwhite fetus is between those two extremes. CONCLUSION: The probability of cystic fibrosis after detection of echogenic bowel and one cystic fibrosis mutation varied among ethnic groups. Even at the highest prevalence of cystic fibrosis, most white fetuses will not have cystic fibrosis. In nonwhite populations almost half of these fetuses will have cystic fibrosis, even at the lowest prevalence of cystic fibrosis.     

4D ultrasound study of fetal facial expressions in the third trimester of pregnancy

Objective: To evaluate the frequencies of fetal facial expressions in the third trimester of pregnancy, when fetal brain maturation and development are progressing in normal healthy fetuses.

Methods: Four-dimensional (4?D) ultrasound was used to examine the facial expressions of 111 healthy fetuses between 30 and 40?weeks of gestation. The frequencies of seven facial expressions (mouthing, yawning, smiling, tongue expulsion, scowling, sucking, and blinking) during 15-minute recordings were assessed. The fetuses were further divided into three gestational age groups (25 fetuses at 30–31?weeks, 43 at 32–35?weeks, and 43 at ≥36?weeks). Comparison of facial expressions among the three gestational age groups was performed to determine their changes with advancing gestation.

Results: Mouthing was the most frequent facial expression at 30–40?weeks of gestation, followed by blinking. Both facial expressions were significantly more frequent than the other expressions (p?p?=?.031). Other facial expressions did not change between 30 and 40?weeks. The frequency of yawning at 30–31?weeks was significantly higher than that at 36–40?weeks (p?Conclusions: Our results suggest that 4D ultrasound assessment of fetal facial expressions may be a useful modality for evaluating fetal brain maturation and development. The decreasing frequency of fetal yawning after 30?weeks of gestation may explain the emergence of distinct states of arousal.     

Outcomes in the absence of the ductus venosus diagnosed in the first trimester

Purpose: To clarify the outcomes of the absence of the ductus venosus (DV) diagnosed in fetuses suspected to have a structural abnormality during a morphological assessment in the first trimester.

Methods: Infants in whom ultrasound fetal morphological assessments were attempted in the first trimester (11 to 13–6 weeks of gestation) and who were subsequently delivered between 2013 and 2015 at Showa University Hospital were enrolled. In cases in which the absence of the DV was diagnosed in the first trimester, the prognosis was assessed.

Results: First-trimester ultrasound screening was performed in a total of 2610 cases between 2013 and 2015. Fetal edema (n?=?38), hydrops (n?=?16), abnormal four-chamber view findings (n?=?2), and tricuspid regurgitation (n?=?1) were observed in a total of 52 cases (2.0%). In 4 of the 52 cases with abnormal ultrasound findings, the absence of the DV was detected.

Conclusion: If fetal edema or hydrops in early pregnancy is found without any other structural abnormalities, not only chromosomal abnormalities should be suspected but also an evaluation for the absence of the DV should be included. In addition, absence of the DV with fetal edema may be associated with the outcomes of cardiac dysfunction, chromosome abnormalities, and intrauterine sudden death. Severe fetal edema is associated with a poor prognosis, and the family must be carefully informed of the potential outcomes.     

Increased nuchal translucency and cystic hygroma in the first trimester: prenatal diagnosis and neonatal outcome

OBJECTIVE: A prospective study of pregnancy outcome in fetuses with increased nuchal translucency above the 95th centile (group NT) or cystic hygroma (group CH) at 10 to 14 weeks of gestation was performed. PATIENTS AND METHODS: Maternal and fetal data (nuchal translucency, caryotype, pregnancy outcome) and infant follow-up of 223 fetuses with first trimester nuchal translucency thickness (183 NT and 40 CH) were analysed. RESULTS: The measurement of nuchal translucency thickness shows a significant difference between group CH and NT (7.4+/-2.9 mm compared 3.7+/-0.8 mm). Chromosomal abnormalities were present in 55% (22/40) in group CH, with 9 cases/22 (40.9%) of Turner syndrome, compared with 14.2% (26/183) in group NT with trisomy 21 in 15 cases/26 (57.7%) (P<0.05). The rate of unfavourable outcome of pregnancy (spontaneous abortion, elective termination of pregnancy, serious structural anomalies) was 80% (32/40) in group CH compared with 18% (33/183) in group NT (P<0.05). In chromosomally normal pregnancies, the rate of fetus with no visible serious structural anomalies was 44.4% (8/18) in group CH compared with 93% (146/157) in group NT (P<0.05). DISCUSSION AND CONCLUSION: Our data show ultrasonographic evaluation of the fetal nuchal translucency thickness at the first trimester is actually indispensable. Neonatal outcome and malformation rate in fetuses with increased nuchal translucency or cystic hygroma are different, even with normal karyotype.     

Correlation of ultrasound findings and biochemical markers in the second trimester of pregnancy in fetuses with trisomy 21

OBJECTIVE: The aim of the present study was to assess possible correlations between ultrasound findings and maternal serum biochemical ('triple test') markers among fetuses with trisomy 21 in the second trimester of pregnancy. METHODS: The study was a retrospective cohort study of 72 pregnancies affected by trisomy 21 who had a second trimester ultrasound and biochemical screen performed at a single center between 1990 and 1999. The biochemical screen consisted of alpha-fetoprotein (AFP), total beta human chorionic gonadotrophin (hCG) and estriol (uE(3)). Marker levels were expressed in multiples of the median (MoM). The ultrasound findings assessed were major structural anomalies, short humerus length, short femur length, increased nuchal fold thickness (NF), hyperechoic bowel, echogenic intracardiac focus (EIF), ventriculomegaly, choroid plexus cysts and renal pyelectasis. RESULTS: Second trimester maternal serum biochemical markers and ultrasound findings appeared to be largely independent of each other. However, some significant correlations were observed. Estriol was significantly lower when a fetal cystic hygroma was detected on ultrasound compared to those with no cystic hygroma (0.40 vs. 0.70 MoM, p<0.05). The median hCG level was significantly lower in those pregnancies with a normal second trimester fetal ultrasound compared to those with positive ultrasound findings (2.07 vs. 2.87 MoM, p<0.05). Median hCG levels were also significantly higher in those cases with NF> or =5 mm as compared to those with NF<5 mm (2.99 vs. 2.49 MoM, p<0.05). This difference persisted after exclusion of the five cases with cystic hygromas (2.99 vs. 2.49 MoM, p<0.05). A significant positive correlation was observed between log(10) hCG and log(10) NF MoM (Spearman's rho=0.252, p<0.05). NF was significantly greater among fetuses with an identifiable cardiac defect compared with those without a detectable cardiac defect (median of 7.0 mm vs. 3.8 mm, p<0.01). This difference persisted when expressed as multiples of the median (2.8 vs. 1.3 MoM, p<0.01). CONCLUSION: Second trimester ultrasound and biochemical markers are largely independent in fetuses with trisomy 21, however significant correlations between the two were observed in the present series. These may be important in screening protocols that combine second trimester ultrasound and biochemical markers.     

Fetal midgut volvulus: report of eight cases

Objective: To evaluate whether prenatal diagnosis of intestinal midgut volvulus (a rare condition due to the small bowel loops twisting) can improve the prognosis of the newborns.

Methods: In our Prenatal Diagnosis Center, eight cases of intestinal volvulus observed between 2007 and 2014 were retrospectively considered. Ultrasonographic signs can be direct and specific (whirlpool sign, coffee bean sign) or indirect and non-specific (abdominal mass, dilated bowel loops, pseudocysts, ascites, polyhydramnios).

Results: Prenatal diagnosis was performed at 20–34 weeks of gestation. All newborns were exposed to an emergency surgery: the major complication was due to cystic fibrosis.

Conclusions: An early suspicion of intestinal volvulus allows the clinician to refer the patient to a tertiary center so to confirm the diagnosis and perform an appropriate follow-up in order to identify the proper time of delivery. The prognosis of the babies with prenatal intestinal volvulus depends on the length of the segment involved, on the level of intestinal obstruction, on the presence of meconium peritonitis and on the gestational age at birth. Our experience, according with the literature, suggests that ascites and absence of abdominal peristalsis are ultrasonographic signs that, in the third trimester of pregnancy, correctly lead to an immediate delivery intervention.     

Analysis of the clinical outcomes of fetal bowel dilatation combined with other abnormal ultrasonographic features

Objectives: To explore the significance of fetal bowel dilatation combined with other abnormal ultrasound features in the diagnosis of gastrointestinal malformation.

Methods: A retrospective study of fetuses with bowel dilatation was performed, from August 2012 to October 2015. All the cases were identified from the ultrasound database and all observations of the relationship of prenatal abnormal abdominal ultrasound features and intestinal malformation were performed through the infancy stage.

Results: We found 52 fetuses with prenatal suspicion of bowel dilatation. Of these, 20 cases were surgically confirmed to have intestinal malformation, 13 cases had no abnormal bowel loops after birth, 8 cases had abnormal intestinal features while no surgical intervention was performed after birth, 10 cases were lost to follow-up and 1 fetus died in utero at 34 weeks of gestation. Forty cases with full data were divided into three groups, including Group A (Small bowel dilatation combined with other features vs. Isolated small bowel dilatation), Group B (Colonic bowel dilatation combined with other features vs. Isolated colonic bowel dilatation) and Group C (Bowel dilatation combined with other features vs. Isolated bowel dilatation). The intestinal malformation occurrence rates were 73.33% vs. 31.25% in Group A, 50% vs. 25% in Group B, and 70% vs. 30% in Group C. These results suggest that malformation occurs at a lesser frequency in simple bowel dilatation versus bowel dilatation in combination with other abnormal ultrasound features (p?=?.026), similarly in simple small bowel dilatation versus small bowel dilatation in combination with other abnormal ultrasound features (p?=?.032).

Conclusions: Prenatal bowel dilatation in combination with other abnormal ultrasound features, especially small bowel dilatation in combination with other abnormal ultrasound features, detected in the second and third trimesters, tended to indicate intestinal malformation, which contributes to enhance the accuracy of prenatal diagnosis of intestinal malformation.     

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 beta-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.     

The significance of a positive second trimester serum screen for trisomy 18

Objectives.?We designed this study to estimate the proportion of fetuses in pregnancies with positive second trimester serum screens for trisomy 18 who actually have trisomy 18, to estimate the proportion of women with trisomy 18 who have a negative serum screen, and to assess the role of ultrasound in the diagnosis of trisomy 18.

Methods.?Retrospective study of two cohorts of pregnant women in 2004 and 2005: (1) those with a second trimester serum screen positive for trisomy 18 and (2) those with fetuses having trisomy 18.

Results.?There were 93 women with positive serum screens for trisomy 18. Of these, only three had a fetus with trisomy 18. There were five other cases of trisomy 18, three of which had a negative second trimester serum screen for trisomy 18. All fetuses with trisomy 18 had multiple major structural abnormalities detected on targeted genetic sonography.

Conclusions.?A positive second trimester serum screen has a poor sensitivity and poor prediction for trisomy 18. Trisomy 18 is highly unlikely if a woman with a positive screen for trisomy 18 has no fetal abnormalities detected on targeted genetic sonography. Women with a positive second trimester serum screen for trisomy 18 should be offered genetic sonography, and the practice of routine amniocentesis for all women with a positive screen should be discouraged when targeted genetic sonography is available.     

The utility of detailed first trimester ultrasound examination in abnormal fetal nuchal translucency

OBJECTIVE: To determine the value of a first trimester fetal ultrasound examination in cases of an increased nuchal translucency (NT). METHOD: A detailed fetal ultrasound examination was performed within 4 days of a detection of a first trimester increased NT. RESULTS: As many as 23 fetuses were evaluated. Severe anomalies were detected in eight and mild anomalies were detected in six fetuses. Two fetuses had trisomy 13, one had trisomy 21, and 16 fetuses had a normal karyotype. A chromosomal analysis was not available in four fetuses with major anomalies due to parental decision. In one fetus, craniosynostosis was detected only at 24 weeks' gestation. CONCLUSIONS: The current study shows that a first trimester targeted scan of fetuses with an increased NT in an experienced center can shorten the parental decision-making process and spare parents a prolonged period of diagnostic uncertainty and anxiety, particularly when a structural anomaly is clearly diagnosed in the first trimester.