Neuroimaging of ventriculomegaly in the fetal period.

Fetal cerebral ventriculomegaly (VM) is defined as an enlargement of the lateral ventricles of the developing fetal brain. It is diagnosed when the width of one or both lateral ventricles, measured at the level of the atrium, is ≥10 mm. VM is defined as mild when the atrial width is 10-15 mm and severe when >15 mm. VM is a non-specific sonographic sign which is common to various pathological conditions. It is frequently associated with neural and extraneural anomalies. The rate of associated malformations is higher (≥60%) in severe VM and lower (about 40%) in cases of mild VM. When an abnormality is associated with severe VM the incidence of aneuploidies is high (>15%); in isolated mild VM the mean value of aneuploidy is 2.7%. The rate of infections in severe VM is 10-20%, in mild forms 1-5%. Since the prognosis in cases of VM depends mainly on the associated anomalies, a careful examination of the fetus, particularly of the brain, is mandatory. Magnetic resonance imaging can be a useful diagnostic tool complementary to ultrasound in order to recognize subtle brain anomalies, such as neuronal migration and proliferation disorders.

Cavum veli interpositi cyst: prenatal diagnosis and postnatal outcome.

OBJECTIVE: The cavum veli interpositi (CVI) is a space within the double-layered tela choroidea of the third ventricle. Occasionally, this space is fluid-filled and sonographically visible as an interhemispheric anechoic cyst. Because of its rarity, the incidence of CVI cyst is undetermined and the outcome of affected individuals has been found to be variable. The aim of this study was to report our experience of the sonographic findings and outcome of fetuses affected by CVI cysts. METHODS: In five fetuses with a CVI cyst, we performed targeted prenatal ultrasound scans of intracranial structures and a detailed anatomical survey to rule out associated malformations. Follow-up consisted of neurological examination and neurosonography. RESULTS: The CVI cyst appeared as a well-defined anechoic lesion without adjacent mass effect. In all fetuses the cyst was single and in two cases it enlarged slightly during pregnancy. The cyst was isolated in three fetuses and associated with borderline ventriculomegaly in two. A single umbilical artery was the only associated extracranial anomaly and this was detected in only one fetus. Neurosonography confirmed the presence of CVI cysts in all cases after delivery. During postnatal follow-up (range 10-48 months), the cyst regressed in one case within 1 month after delivery while the size of the others remained stable. No infant developed psychomotor disorders. CONCLUSIONS: Prenatal sonographic diagnosis of CVI cysts is feasible. Its finding in isolation is consistent with favorable postnatal outcome.

Twin-twin transfusion syndrome.

Twin-twin transfusion syndrome (TTTS) is a condition unique to monochorionic pregnancies, although very few case reports described the syndrome in dichorionic placentas. The aetiology of TTTS relies in the presence of at least 1 arterio-venous placental anastomosis, through which unequal blood exchange from one twin (donor) to the co-twin (recipient) occurs. The diagnosis of TTTS relies on the sonographic detection of oligohydramnios in the donor's sac and polyhydramnios in the recipient's sac in the second trimester, although signs of TTTS are present since the first trimester. Treatment options for TTTS include serial amnioreduction, septostomy, selective feticide of the apparently sick twin, and selective photocoagulation of placental vessels (SLPCV). Because of the growing evidence that SLPCV is the most efficacious therapy compared to amnioreduction with/without septostomy, the authors reviewed in details the effects of SLPCV on fetal growth and circulation. The authors further explore literature with regard to the prognostic factors. Finally, because Quintero staging system is actually under debate, they discuss the most recent findings on this topic and propose a new staging system to assess severity of TTTS at presentation (Rossi staging system). New topics for future research, which would probably further clarify the natural history of TTTS, are also proposed.

Gastrointestinal stromal tumors mimicking gynecological masses on ultrasound: a report of two cases.

Gastrointestinal stromal tumors (GISTs) are among the most common mesenchymal tumors of the gastrointestinal tract. Diagnosis of GIST on ultrasound examination can be difficult because of their similarity in appearance to gynecological neoplasms. We present two cases of GIST originating from the small bowel and the stomach, which were preoperatively misdiagnosed as a uterine leiomyoma and an ovarian tumor, respectively. The ultrasonographic differential diagnosis of these pelvic masses is discussed.

[Sonoembryological criteria in the evaluation of gestational age]. / Utilizzo di criteri sonoembriologici nella valutazione dell'età gestazionale.

AIM: The progressive appearance of specific embryological structures has been successfully used to define the ultrasonographic gestational age (GA). In our study we have revised this technique by comparing our results with the ones from Warren et al. obtained in 1989. Aim of the study is to evaluate the accuracy of this technique when applied working with new instrumentations and average skilled sonographers. METHODS: Sixty-five pregnant women with correct GA ranging between 4 and 12 weeks have been observed between April 2003 and March 2004. We exposed them to an ultrasound examination looking for these structures in terms of presence/absence: gestational sac, yolk sac, embryo pole with cardiac activity, thromboencephalic cavity, falx cerebri and physiologic midgut herniation. We used transvaginal sonography (TVS) until 11 weeks of GA, from 11 weeks + 1 day we switched to transabdominal sonography (TAS). We have compared our results with the ones published by Warren et al. RESULTS: Gestational sac's visualization has been possible between 4 weeks+3 days/5 weeks of GA. Yolk sac has been visualized between 5 weeks+4 days/6 weeks of GA, embryo with cardiac activity has been observed between 5 weeks+6 days/6 weeks+2 days of GA, romboencephalic cavity has been visualized between 7 weeks and 7 weeks+5 days, falx cerebri has been detected between 9 weeks+1 day/10 weeks+3 days. Visualization of physiologic midgut herniation has been possible between 8 weeks+3 days/8 weeks+6 days; it disappeared between 10 weeks+3 days/11 weeks +1 day. CONCLUSIONS: Although the technological improvement in the US equipment in the last 15 years and the combination of TVS with TAS, there has been no advanced visualization of those single embryological structures. Indeed there has been a reduction of the time range during which those structures have been visualized. This improvement might have important practical implications in the ultrasonographic assessment of GA.

Analysis of HLA-DRB1*-A* and -B* alleles in prenatal diagnosis for determination of maternal contamination in fetal DNA.

During chorionic villi sampling for prenatal diagnosis with molecular biology techniques, contamination by maternal decidua frequently occurs and can lead to misinterpretation of the test results. To avoid such problems, we present a new method for appraising maternal contamination of fetal DNA, based on genomic typing of the highly variable human leukocyte antigen (HLA) locus-DRB1*, locus A* and locus B* regions by genetic amplification with sequence-specific primers and PCR. Fetal DNA samples obtained for beta-thalassemia diagnosis were analysed after artificial contamination with increasing maternal DNA concentrations ranging from 0.5 to 10% (0.5, 1, 3, 5 and 10%). The approach was found to be rapid, specific, reproducible and highly sensitive and permits recognition of 1-3% contamination by maternal DNA concentrations. The system currently used for detecting maternal DNA contamination in fetal samples is the analysis of polymorphic loci by variable number of tandem repeats and/or short tandem repeats. We propose that the analysis of HLA alleles may provide a valid alternative or complement to this system.

Nomogram of Wharton's jelly as depicted in the sonographic cross section of the umbilical cord.

OBJECTIVES: To generate a nomogram for the sonographic measurement of Wharton's jelly area (WJA) during gestation and to investigate whether WJA is related to fetal biometric parameters. METHOD: The sonographic cross-sectional area of the umbilical cord and of its vessels was measured in 659 fetuses between 15 and 42 weeks of gestation. The WJA was calculated by subtracting the vascular area from the umbilical cord area. The conventional biometric parameters were measured and correlated with the WJA. Polynomial regression analysis was utilized for statistical purposes. RESULTS: The WJA increased as a function of gestational age (r = 0.63, P < 0.001). The regression equation for the mean WJA (y) according to gestational age (x) was y = -114.7 + 4.142x - 0.01x2 and for the standard deviation (y') was y' = -7.567 + 1.319x. There was a strong correlation between the WJA and the umbilical cord area (r = 0.97, P < 0.001). A significant correlation was also found between the WJA and fetal biometric parameters before 32 weeks of gestation (WJA and biparietal diameter: r = 0.82, P < 0.001; WJA and abdominal circumference: r = 0.79, P < 0.001; WJA and femur length: r = 0.81, P < 0.001) while after 32 weeks of gestation no correlations were found between WJA and fetal anthropometric parameters. CONCLUSION: A nomogram for the WJA has been generated. The WJA increases as a function of gestational age and it is correlated with fetal size up to 32 weeks of gestation.

The clivus-supraocciput angle: a useful measurement to evaluate the shape and size of the fetal posterior fossa and to diagnose Chiari II malformation.

OBJECTIVE: To obtain a nomogram of the clivus-supraocciput angle as a basis for the diagnosis of Chiari II malformation in fetuses with ventriculomegaly. METHODS: A cross-sectional study was undertaken on 310 normal pregnant women of 16-34 weeks' gestation. A mid-sagittal section of the fetal skull was obtained and the angle between the clivus and the supraocciput was measured. Forty-four fetuses with ventriculomegaly due to various causes (13 Chiari II malformation, 12 dysgenesis of the corpus callosum, 7 aqueductal stenosis, 6 borderline ventriculomegaly, 3 Dandy-Walker malformation, 2 porencephaly, 1 schizencephaly) were also included in the study and the values of the angle found in the pathological cases were compared with those found in the normal population. RESULTS: The clivus-supraocciput angle did not change during gestation and was almost constant with an average value of 79.3 +/- 6 degrees. All cases of Chiari II malformation showed a value below the 5th centile of our nomogram. CONCLUSIONS: The evaluation of the posterior fossa and particularly the measurement of the clivus-supraocciput angle is a useful parameter to differentiate the various causes of fetal ventriculomegaly and particularly to recognize Chiari II malformation.

Umbilical cord morphology and pregnancy outcome.

Traditionally, the prenatal assessment of the umbilical cord (UC) is limited to the assessment of the number of vessels and to the evaluation of umbilical artery blood flow parameters. Morphologic aspects of the UC have usually been studies by pathologists and retrospectively correlated with the perinatal outcome. The introduction of more sophisticated imaging techniques have offered the possibility to investigate the UC characteristics during fetal life from early to late gestation. A number of investigations have demonstrated that an altered structure of the UC can be associated with pathologic conditions (i.e. Preeclampsia, fetal growth restriction, diabetes, fetal demise). Nomograms of the various UC components have been generated and allow the identification of lean or large umbilical cords, entities frequently associated with fetal growth abnormalities and diabetes. A Wharton's jelly reduction has also been invoked as a possible cause of fetal death in the presence of single umbilical artery. Prenatal morphometric UC characteristics as well as arterial and venous blood flow parameters in normal and pathologic conditions will be discussed.

Umbilical vein blood flow in fetuses with normal and lean umbilical cord.

OBJECTIVE: To evaluate whether umbilical vascular coiling is correlated with the umbilical vein blood flow profile and to investigate if this is different between fetuses with a lean and those with a normal umbilical cord. METHODS: Consecutive women with a singleton gestation who delivered at term and who underwent an ultrasound examination within 24 h from delivery were studied. Umbilical cord and vessel areas were calculated. Umbilical vein blood flow parameters were obtained by digital color Doppler velocity profile integration. After delivery, the umbilical coiling index was calculated. RESULTS: One hundred and sixteen women were studied. Twelve (10.3%) had a lean umbilical cord (area < 10th centile). A significant correlation was found between the umbilical coiling index and the umbilical vein blood flow (r = 0.67, P < 0.001). A significant difference between fetuses with and without a lean cord was found in terms of: umbilical coiling index (0.18 +/- 0.08 vs. 0.29 +/- 0.09, P < 0.005), cord area (87.6 +/- 5.1 mm2 vs. 200.6 +/- 34.6 mm2, P < 0.001), Wharton's jelly amount (25.7 +/- 10.3 mm2 vs. 122.1 +/- 33.4 mm2, P < 0.001), umbilical vein blood flow (93.7 +/- 17.8 ml/kg per min vs. 126.0 +/- 23.4 ml/kg per min, P < 0.001), and umbilical vein blood flow mean velocity (6.6 +/- 2.7 cm/s vs. 9.0 +/- 3.6 cm/s, P < 0.05). The proportion of fetuses with an umbilical vein blood flow < 80 ml/kg per min was higher when the cord was lean than when it was normal (25% vs. 1.9%, P < 0.01). CONCLUSIONS: Lean umbilical cords differ from normal cords not only from a structural point of view but also in the umbilical vein blood flow characteristics. This could explain the increased incidence of intrapartum complications and fetal growth restriction among fetuses with a lean and/or hypocoiled cord.

First-trimester sonographic umbilical cord diameter and the growth of the human embryo.

OBJECTIVES: Experimental and clinical evidence have shown that the morphometry of the umbilical cord in the second half of gestation might be useful in predicting adverse perinatal outcome. The purposes of this study were to generate a nomogram for the umbilical cord diameter in the first trimester and, in an observational study, to investigate whether the sonographic measurement of the umbilical cord diameter early in gestation has the same clinical value as that late in gestation. METHODS: The sonographic umbilical cord diameter, crown-rump length and biparietal diameter were measured in 439 fetuses at between 8 and 15 weeks of gestation. The perinatal outcome was recorded for all patients. RESULTS: The umbilical cord diameter increased steadily from 8 to 15 weeks of gestation. A significant correlation was found between umbilical cord diameter and gestational age (r = 0.78; P < 0.001), umbilical cord diameter and crown-rump length (r = 0.75; P < 0.001) and umbilical cord diameter and biparietal diameter (r = 0.81; P < 0.001). No correlation was found between umbilical cord diameter values and either birth weight or placental weight. Among patients who had a miscarriage (n = 7) and pre-eclampsia (n = 8) the umbilical cord diameter was below 2 standard deviations from the mean in three cases (42.9%) and three cases (37.5%), respectively. CONCLUSION: The measurement of the umbilical cord diameter in the first trimester is correlated with the growth of the embryo and may be a marker for identifying a subset of fetuses at risk of spontaneous miscarriage and pre-eclampsia.

3-M syndrome: a prenatal ultrasonographic diagnosis.

The ultrasonographic imaging of a fetus affected by 3-M syndrome is described. This is a primordial dwarfism with low birthweight, short stature, facial dysmorphism and normal mental development. The biparietal diameter and head circumference were in accordance with the gestational age at 18 weeks. The femur and tibia lengths were on the fifth centile and the radius, ulna and humerus lengths were below the fifth centile. A second scan at 22 weeks showed slowing of growth of all long bones, with the femur, tibia, fibula, humerus, radius and ulna lengths further below the fifth centile. The pregnancy was terminated and postmortem examination confirmed the prenatal diagnosis. The differential diagnosis of skeletal dysplasias characterized by a slow growth of long bones is discussed and the conclusion reached that the detection of shortened long bones (below the fifth centile) is the only ultrasonographic finding of 3-M syndrome.

Prenatal diagnosis of beta-thalassaemia using fetal erythroblasts enriched from maternal blood by a novel gradient.

We have assessed a new technique for the isolation of fetal erythroblasts from maternal blood for the non-invasive prenatal diagnosis of pregnancies at risk of beta-thalassaemia. This method relies on the separation of erythroblasts from maternal nucleated cells by a novel step gradient and high speed centrifugation. In four of the six cases examined, single erythroblasts were identified by immunohistochemistry for zeta (zeta) globin. These were individually micromanipulated and analysed by single cell polymerase chain reaction (PCR) and subsequent sequencing of the region of beta-globin locus where the mutations most common to the region of Puglia, Italy, are clustered. In each of the four instances where fetal erythroblasts were identified by antibody staining, the fetal beta-globin genotype was correctly determined. To date, this represents the largest series of non-invasive prenatal diagnoses performed for this haemoglobinopathy.

Comparison of Diane 35 and Diane 35 plus finasteride in the treatment of hirsutism.

OBJECTIVE: To compare the clinical efficacy of an original combined therapy with cyproterone acetate, 2 mg, and ethinylestradiol, 35 microgram (Diane 35), plus finasteride (5 mg) for 2 weeks per month with that of Diane 35 alone in hirsute women. DESIGN: Prospective randomized, single-blinded study. SETTING: Outpatients in an academic research environment. PATIENT(S): Fifty women with idiopathic hirsutism (IH) or the polycystic ovary syndrome (PCOS). INTERVENTION(S): Group 1 (n = 25) received Diane 35 alone and group 2 (n = 25) received Diane 35 plus finasteride. The latter drug was administered using a new therapeutic scheme: 14 consecutive days for each therapeutic cycle. MAIN OUTCOME MEASURE(S): Hormonal evaluation was done before beginning treatment and after 3 and 6 months of therapy. Hirsutism was graded at 3-month intervals. RESULT(S): The combination of Diane 35 plus finasteride for 14 days significantly decreased the hirsutism score after 3 months of therapy, while Diane 35 alone induced this effect after 6 months. CONCLUSION(S): Finasteride in combination with Diane 35 for 14 days is effective, well accepted, and safe in hirsute patients, as the amount of antiandrogenic drugs administered is much lower than that in conventional treatment.

Prenatal sonographic imaging of an immature intracranial teratoma.

This article describes the prenatal sonographic diagnosis of a rare case of intracranial immature teratoma in a fetus at the 35th week of gestation which looked normal at previous examinations. At sonography a markedly enlarged fetal head containing a complex irregular mass and hydrocephalus was detected. Color Doppler examination of the mass showed intense vascularization with low resistance flows.

The specificity of ultrasound in the detection of fetal intracranial tumors.

AIMS: To evaluate the specificity of ultrasound in identifying fetal brain neoplasms and its accuracy in the diagnosis of the tumor's histological type. METHODS: A retrospective evaluation of 7 cases of fetal brain tumors occurred at our unit in the period between January 92 and June 98 has been performed. All prenatal ultrasonographic diagnoses were compared with the postnatal findings on the aborted fetuses (post-mortem examination) or on the newborns (MRI or post-mortem examination). RESULTS: In 6 out of 7 cases the antenatal ultrasonographic diagnosis of brain tumor was confirmed postnatally, in one case a supratentorial arachnoid cyst was mistaken for a teratoma with cystic components (86% specificity in the diagnosis of congenital brain neoplasms). Out of the 6 cases of suspected teratomas, one revealed to be a glioblastoma, one an arachnoid cyst and one a primitive neuroectodermal tumor. The prenatal diagnosis was confirmed in the case of choroid plexus papilloma. Prenatal ultrasonography was accurate in identifying the tumor's histological type in the 57% of the cases. The diagnoses were not modified by the transvaginal scans performed in 2 cases. CONCLUSIONS: Prenatal ultrasonography is a useful tool to identify any intracranial space-occupying lesion larger than 10 mm. In the present study it has shown an 86% specificity in the diagnosis of brain neoplasms. However the accuracy of ultrasound in diagnosing the tumor's histological type was limited (57%).

Reducing the inappropriate use of parenteral nutrition in an acute care teaching hospital.

BACKGROUND: Parenteral nutrition (PN) is a form of nutrition that can be life-saving, but its use has inherent risks and it is expensive. Nutrition support teams have been shown to reduce both the rate of complications and excessive use of PN. METHODS: Criteria were established to evaluate the appropriateness of PN use in a 487-bed community teaching hospital. A prospective study of 50 consecutive patients, who received either central or peripheral PN, was conducted. RESULTS: The 50 patients received 469 days of PN. We found that 233 (49.7%) of the 469 days of PN were avoidable. This resulted in the creation of a formal approval process that required prior approval by a physician-directed multidisciplinary advisory committee before PN could be instituted. The amount of PN subsequently decreased from 500 patient days of PN per month to less than 100. CONCLUSIONS: This study supports the idea that inappropriate use of PN can be reduced by physician education plus the continuing oversight of a physician-directed multidisciplinary advisory group.

Leuprolide acetate as a salvage-therapy in relapsed epithelial ovarian cancer.

A large number of studies have been conducted in patients affected by epithelial ovarian cancer to assess the potential utility of a variety of different regimens in patients who have relapsed after primary surgery and adjuvant chemotherapy. In this open prospective study, 32 patients with ovarian cancer of epithelial histology who had relapsed after platinum-based line chemotherapy and had exhausted all standard treatments, received Leuprolide acetate depot 3.75 mg, intramuscularly once a month until tumor progression. Four patients (12.5%) had clinical and/or radiological partial response; remission was then maintained for a mean duration of 8.7 months (range 6-11 months) before new progression occurred. Five patients (15.6%) remained stable for a mean time of 5.2 months (range 4-6 months) and 23 patients (71.9%) continued to progress following therapy and have since died by tumor with a median survival of 3.6 months after initiation of the protocol. Treatment is well-tolerated and no toxicity has been noted. These data stress the significant activity of Leuprolide acetate as a salvage therapy in patients with relapsed advanced epithelial ovarian cancer after previous platinum-based chemotherapies.

How case management can improve the quality of patient care.

In January 1993, The New York Hospital Medical Center of Queens, a 487 bed acute care teaching hospital, created a Case Management Department to provide quality health care for patients that was cost efficient and at the same time reduce length of stay. Registered nurses with extensive medical and surgical expertise who were quality assurance/utilization coordinators and discharge planning nurses were cross-educated to become patient case managers. The case manager coordinates patients care services to improve the quality of the total patient experience. Reviews are conducted daily. The case managers indicate quality issues on their computer worksheets. Quality concerns are addressed and referrals made to the QA Department. Case Management Team rounds are conducted on the patient unit to discuss quality issues and barriers to discharge. Many delays were noted in patient care services i.e. Physical Therapy (P.T.) and Radiology. Readmissions within 48 hours of discharge were noted and reviewed as an indicator to monitor outcome and quality concerns. Continuous Quality Improvement (CQI) projects were initiated to reduce patient care delays. Multidisciplinary teams were formed to expedite solutions. The number of P.T. and Radiology delays were dramatically reduced through the CQI process. The case manager's role is vital to the delivery of quality patient care and containment of ever spiraling health care costs.