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.

Trisomy 18: Fetal ultrasound findings at different gestational ages.

The aim of this article is evaluate the sonograhic findings in fetuses with trisomy 18 at different gestational ages. The cases were recruited from pregnant women, who underwent to prenatal diagnosis in the period from October 1995 to September 2006. Seventy-one fetuses with trisomy 18 were diagnosed. On review of the sonograms the majority of these cases had ultrasound anomalies (sensitivity of 91.5%). The most frequent anomalies were abnormalities of extremities (40.8%) and fetal growth restriction (35.2%). More frequently (54.9%) two or more anomalies were present. Nearly all fetuses with trisomy 18 had sonographic abnormalities. Likely improved high-resolution equipment and attention to details by skilled operators led to the detection of most anomalies to trisomy 18. Knowledge of types of specific ultrasound findings can improve prenatal diagnosis in order to provide invasive procedures only when indicated, and to avoid amniocentesis when ultrasound signs are not observed in women at high risk from positive biochemical testing.

First-trimester fetal heart block and increased nuchal translucency: an indication for early fetal echocardiography.

Prevalence of congenital heart disease increases with nuchal translucency (NT) thickness. First-trimester fetal bradycardia may result from heart block associated with complex congenital heart disease. We report two cases detected in the first trimester of pregnancy, in which both fetuses showed an increased nuchal translucency and bradycardia. Fetal karyotype was normal in both fetuses. First-trimester fetal echocardiography was performed and, in both cases, complex congenital heart disease was diagnosed. We discuss the added role of fetal heart rate in first-trimester ultrasound screening, in fetuses with increased nuchal translucency and normal karyotype. We stress, as well, the importance of echocardiography performed in the first trimester as a potential tool for early diagnosis in selected cases.

Fetal nasal bone and trisomy 21 in the second trimester.

OBJECTIVES: To assess the feasibility of measuring nasal bone length in the second trimester of pregnancy and to confirm if fetal nasal bone absence or hypoplasia is a marker for Down syndrome. METHODS: Fetal nasal bone assessment was performed in 439 consecutive singleton pregnancies at high risk of Down syndrome between 15 and 21 weeks. All ultrasound examinations were performed transabdominally by five skilled sonographers. If the nasal bone was present, its length was measured. The biparietal diameter: nasal bone length ratio (BPD/NBL) was also calculated. RESULTS: Nasal bone assessment was successfully achieved in all fetuses. The nasal bone was absent in 2(0.47%) of the 417 unaffected fetuses and in 10(55.5%) of the 18 fetuses with trisomy 21. Of the 8 Down syndrome cases with a nasal bone present, 4 had nasal bone hypoplasia and 4 had a normal nasal bone. BPD/NBL was 9 or greater in 7 of the 8 fetuses affected by trisomy 21 with nasal bone present and in 86 (20.6%) of the 417 normal fetuses; it was 10 or greater in 5 of the 8 (62.5%) fetuses affected by trisomy 21 and in 41 of the 417 (9.8%) euploid fetuses. CONCLUSIONS: Nasal bone absence is a marker for Down syndrome in the second trimester of pregnancy. Inclusion of nasal bone length into the second-trimester screening protocol could potentially obviate the false-negative cases from other screening tests. The measurement of nasal bone length in the second trimester seems to provide additional benefits beyond the assessment of the presence or absence of the nasal bone.

Anomalies of the fetal venous system: a report of 26 cases and review of the literature.

OBJECTIVE: To evaluate sonographic appearance, natural history, and neonatal outcome of fetal venous anomalies. METHODS: We performed an observational study, including all fetuses affected by abnormalities of the venous system diagnosed by ultrasound during the prenatal period. RESULTS: 26 fetuses were identified. Other malformations were present in 5 cases (19.2%), 1 fetus had trisomy 21, and 1 fetus had intrauterine growth retardation (IUGR). Twenty-five pregnancies ended in liveborn infants, and there was 1 case of unexplained intrauterine death in the fetus with IUGR affected by varix of the umbilical vein. CONCLUSIONS: Fetal venous anomalies are very rare and may be associated with fetal malformations or IUGR. Conservative management appears to be an adequate medical practice in the absence of other fetal problems, but in the presence of a varix of the umbilical vein, serial follow-up scans are needed to exclude the onset of hydrops or thrombosis of the varix.

Ultrasound evaluation of fetal nasal bone at 11 to 14 weeks in a consecutive series of 1906 fetuses.

OBJECTIVE: The aim of this study is to evaluate the significance of nasal bone ossification as a marker for trisomy 21 at 11 to 14 weeks' gestation in an unselected obstetric population referred to our Centre. METHODS: A total of 1906 consecutive fetuses undergoing nuchal translucency scan at 11 to 14 weeks' gestation were evaluated for the presence of hypoplasia/absence of nasal bone. The data obtained were correlated with fetal karyotype. RESULTS: A successful view of the fetal profile was obtained in 1752 fetuses (91.9%). The nasal bone was hypoplastic/absent in 12 of 19 fetuses with chromosomal abnormalities. There were 10 cases of trisomy 21, in 8 of which hypoplastic/absent nasal bone was observed. Furthermore, absence of nasal bone was recorded in 24 of 1733 chromosomally normal fetuses. CONCLUSIONS: Nasal bone evaluation may improve the detection of trisomy 21 in the first trimester in an unselected obstetric population. Although numerically limited, our experience confirms that delayed nasal bone ossification (hypoplasia/absence of nasal bone) is rarely observed in chromosomally normal fetuses (1.4%). An appropriate training of operators is mandatory in order to achieve an acceptable performance.

Prenatal diagnosis of isolated unilateral pulmonary agenesis in the second trimester.

Unilateral pulmonary agenesis is a very rare developmental malformation that is often associated with other anomalies including non-immune hydrops. We describe a case of isolated unilateral pulmonary agenesis diagnosed in the second trimester by gray-scale and color Doppler ultrasound.

Three-dimensional ultrasound evaluation of short-rib polydactyly syndrome type II in the second trimester: a case report.

Prenatal diagnosis of short-rib polydactyly syndrome is possible and has been reported in literature, but a precise ultrasound diagnosis is not easy. We report a case in which three-dimensional ultrasound was used in the evaluation of the disorder. The contribution and potential application of three-dimensional sonography in the prenatal diagnosis of short-rib polydactyly syndrome and other fetal skeletal malformations is discussed.

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%).

Ultrasonographic detection of fetal cranio-facial hemangioma: case report and review of the literature.

A case of an isolated cranio-facial vascular anomaly, extending from the left parietal bone to the lateral margin of the omolateral orbit is presented. Detection and differential diagnosis of fetal hemangioma is important for a variety of reasons. First, it allows the prenatal growth of the mass to be evaluated. Second, it enables appropriate arrangements for delivery to be made including its timing and selection of the appropriate clinical team necessary to support the neonate. After birth these cranio-facial anomalies can regress spontaneously, but plastic surgery is often necessary.

Performance of Doppler ultrasonography as a screening test in low risk pregnancies: results of a multicentric study.

To assess the efficacy of the Doppler velocimetry of the uterine and umbilical arteries as a screening test for preeclampsia and fetal growth retardation, we studied 916 low risk pregnancies. The S/D ratios of the uterine and umbilical arteries were obtained at 19 to 24 weeks and at 26 to 31 weeks of gestational age. Mean values, receiver operator curves, and the diagnostic accuracy of the tests were calculated for the following end-points: (1) pregnancy-induced hypertension, (2) low birth weight for gestational age, (3) small for gestational age with abnormal outcome, (4) pregnancy-induced hypertension needing preterm delivery. The prevalences for these outcomes were 3.4%, 4.6%, 1%, and 0.7%, respectively. The study was blinded. The umbilical and uterine artery S/D ratios were significantly higher in the abnormal than in the normal outcome group. When uterine arteries were studied at 19 to 24 weeks, sensitivity was 59% in the detection of pregnancy-induced hypertension, 11% in the detection of small for gestational age fetuses, 33% in the detection of small for gestational age fetuses with abnormal outcome, and 83% in the detection of pregnancy induced hypertension needing preterm delivery; the corresponding values for specificity were 69%, 94%, 94%, and 68%. At 26 to 31 weeks the sensitivity values were respectively, 69%, 58%, 75%, and 100% and specificity values were 80%, 59%, 39%, and 79%. When umbilical arteries were studied at 19 to 24 weeks, sensitivity was 38% in the detection of pregnancy-induced hypertension, 46% in the detection of small for gestational age fetuses, 78% in the detection of small for gestational age fetuses with abnormal outcome, and 67% in the detection of pregnancy-induced hypertension needing preterm delivery. The corresponding values of specificity were 74% for all four groups. At 26 to 31 weeks the sensitivity values were 38%, 43%, 87%, and 67%, respectively, and specificity values were 80% for all four groups. We concluded that Doppler examinations of the uterine and umbilical arteries can detect, at midpregnancy, the severe forms of pregnancy-induced hypertension and small for gestational age fetuses but they cannot be used to screen a low risk population in which the prevalence of the disease is low, and hence the positive predictive value is low.