bluuebunny/crossref_metadata_2025 huggingface dataset:
The clinical significance of fetal isolated cerebral borderline ventriculomegaly: report of 31 cases and review of the literature
Authors: Pilu G. , Falco P. , Gabrielli S. , Perolo A. , Sandri F. , Bovicelli L.
Published: March 2003

Objective

To assess the clinical significance of fetal isolated borderline cerebral lateral ventriculomegaly defined as a width of the atrium of the lateral cerebral ventricles of 10–15 mm in the absence of other sonographically demonstrable malformations.

Design

Retrospective study of the outcome of fetuses with a sonographic diagnosis of isolated borderline cerebral lateral ventriculomegaly and review of the English‐language literature.

Results

Of 31 fetuses, two had chromosomal aberrations (trisomy 21 and trisomy 13) and three had neurological complications (one infant developed shunt‐dependent hydrocephalus, one lissencephaly and one cerebral hemorrhage and periventricular leukomalacia). The literature search revealed eight independent studies. Including the present series, 234 cases were available for analysis. An abnormal outcome was documented in 22.8% of cases. Perinatal death occurred in 3.7%. Chromosomal aberrations, mostly trisomy 21, were present in 3.8%, malformations undetected at a second‐trimester sonogram in 8.6% and neurological sequelae, mostly a mild to moderate delay in cognitive and/or motor development, were present in 11.5%. The risk of an abnormal neurological outcome was increased in females versus males (22.6% versus 4.6%, relative risk 4.892; 95% confidence interval 1.356–17.656), when the atrial width was 12 mm or more (13.9% versus 3.8%, relative risk 3.6, 95% confidence interval 1.035–12.846) and when the diagnosis was made in the second trimester versus later in gestation.

Conclusions

In most cases, isolated borderline cerebral lateral ventriculomegaly has no consequence. However, this finding carries an increased risk of cerebral maldevelopment, delayed neurological development and, possibly, chromosomal aberrations. The optimal management of these cases remains uncertain. Copyright © 1999 International Society of Ultrasound in Obstetrics and Gynecology
Intrauterine sling: a complication of the stuck twin syndrome
Authors: Al‐Kouatly H. B. , Skupski D. W.
Published: March 2003

Stuck twin syndrome usually presents with polyhydramnios in the recipient sac and severe oligohydramnios in the donor sac. The donor is displaced against the uterine wall and remains adherent in that position. We present a case in which the diagnosis was more complicated, owing to the suspension of the stuck twin by a sling within the sac of the recipient.

A monochorionic diamnionic twin gestation was complicated by twin–twin transfusion syndrome at 18 weeks of gestation. In our example, the stuck twin was suspended by a sling from the placenta. The sling band represented the intertwin membrane that was folded upon itself. Amniotic fluid from the recipient twin was present in three dimensions around the stuck twin, except for the sling band.

The suspension of the stuck twin by a sling within the amniotic fluid of the recipient is an unusual manifestation of the stuck twin syndrome. Copyright © 1999 International Society of Ultrasound in Obstetrics and Gynecology
WS06‐05Disproportion of the four chamber view of the fetal heart: what does it mean?
Authors: Respondek‐Liberska M.
Published: March 2003

Background

The aim of the study was a retrospective analysis of fetal heart disproportion.

Method

From the database of 3941 fetuses disproportion based on 4 chamber view was diagnosed in 136 fetuses (3.5%). There were 96 fetuses with the complete neonatal follow‐up.

Results

Fifty‐nine fetuses presented with different extracardiac malformations. Three other fetuses presented with heart defects. Thirty‐four fetuses with disproportion had ‘normal heart anatomy’ and no extracardiac malformations. Gestational age at the time of diagnosis was 26–40 weeks (mean 35).

Out of 34 fetuses with ‘pure’ disproportion, 15 cases (44%) did not have any clinical or postnatal ECH0 abnormalities. In 19 cases (54%) structural or functional abnormalities were found: 6 neonates presented with ASD secundum, 4 with CoA, 2 with lungs abnormalities (cong. pneumonia and cong. lung emphysema), one neonate had PDA, one had aorto‐pulmonary window + PDA. In other 5 neonates tricuspid insuffciency was diagnosed.

Conclusions

Disproportion in fetal heart was the relatively frequent abnormality at the referral center for fetal echocardiography (3.5%) and in majority of cases it was related to the presence of structural or functional abnormalities. In 44% of neonates fetal disproportion had no clinical implications. The most common neonatal heart defect in cases who prenatally presented with disproportion was ASD sac, followed by CoA (4/19, 21%).
The application of three‐dimensional ultrasound to nuchal translucency measurement in early pregnancy (10–14 weeks): a preliminary study
Authors: Chung B.L. , Kim H.J. , Lee K.H.
Published: March 2003

Objectives The aims of this prospective screening study were to calculate the success rate and to assess the intra‐operator variability of fetal nuchal translucency measurement by using three‐dimensional ultrasound.

Subjects  and methods Eighty‐six women, each with a singleton pregnancy undergoing routine nuchal translucency measurement between 10 weeks and 14 weeks plus 6 days gestational age. Three‐dimensional transvaginal sonography was performed. A new method of nuchal translucency measurement was applied from three volumetric data sets using four steps.

Results In all cases good sagittal views of the fetus were obtained, the fetal skin could be distinguised from the amnion and the nuchal translucency thickness could be measured. The new measurement procedure could be standardized. The overall time required for the examination was 5 min. The procedure caused no discomfort to the woman and was easily performed by the examiner. Intra‐operator variability was low (P = 0.862).

Conclusion Three‐dimensional ultrasound is a useful and easily applicable tool for nuchal translucency measurement during early pregnancy (10–14 weeks plus 6 days). Its advantages still need further evaluation.
Ultrasound screening in the 2nd trimester. The pregnant woman's background knowledge, expectations, experiences and acceptances
Authors: Larsen T. , Nguyen T. H. , Munk M. , Svendsen L. , Teisner L.
Published: March 2003

Objective

Ultrasound screening in the second trimester is widely used in maternal health care. To secure the pregnant woman's autonomy, it is essential to obtain information relating to her understanding and wishes as a starting point for the provision of information. The aim of the study was to explore the pregnant woman's background knowledge, expectations, experiences, and acceptances of second trimester ultrasound screening.

Design

Five‐hundred consecutive, unselected pregnant woman, of gestational age between 16 and 20 weeks were asked to fill in a questionnaire containing defined and open ended questions.

Results

Approximately 70% of the women recruited had undergone a pregnancy‐related ultrasound examination previously. Ninety percent answered that they had received information, either from the family doctor or as written material from the hospital (or both), concerning the purpose of the examination. Literature/newspaper/TV, family and friends played an important role as sources for general information. The pregnant women wished to undertake the ultrasound examination to ensure that the fetus was alive, healthy and without any malformation. Few answers were clinically irrelevant. The womens' expectations were fulfilled in 96% of cases, 86% felt ‘more secure’ after the examination while 2% did not have their expectations fulfilled. Only 0.8% felt more insecure after the examination. The vast majority of both pregnant women and their partners reported a positive experience from the event.

Conclusion

Pregnant women have a good knowledge of ultrasound examination although the quality of information could be improved. Expectations are fulfilled and are clinically relevant. The acceptability and experiences of the examination are very high. Copyright © 2000 International Society of Ultrasound in Obstetrics and Gynecology
Color Doppler imaging in the diagnosis and management of chorioangiomas
Authors: Jauniaux E. , Ogle R.
Published: March 2003

Color Doppler imaging was used to investigate nine consecutive cases of placental tumors referred for evaluation to a tertiary referral unit.

Gray‐scale ultrasound findings were of a chorioangioma which was subsequently confirmed on pathologic examination. On color Doppler imaging (CDI), three tumors appeared avascular and the pregnancies were uncomplicated, two had only a few vessels in their periphery, and four contained numerous vessels. These vascular chorioangiomas were complicated by polyhydramnios and premature labor (n = 3), isolated polyhydramnios (n = 1), fetal growth restriction (n = 1) and generalized non‐immune fetal hydrops (NIHF) (n = 1). The maximum diameter of the tumors ranged between 3 and 10 cm. There was no direct association between the size and location of the tumor and the development of complications. Successful amnioreduction was performed in the three cases of polyhydramnios and premature onset of labor. Vascular sclerosis was attempted unsuccessfully in the case complicated by severe NIHF.

Our data indicate that the vascularization of the tumor is a pivotal determinant factor of pregnancy outcome. Where the tumor is avascular, no specific complications should be expected. Where the tumor is vascularized, and in particular if it contains numerous large vessels, serial ultrasound and Doppler examinations are warranted to detect polyhydramnios and early features of fetal congestive heart failure. © 2000 British Journal of Surgery Society Ltd
Sonographic visualization of normal‐size ovaries during pregnancy
Authors: Shalev J. , Blankstein J. , Mashiach R. , Lampley C. E. , Bar‐Hava I. , Vardimon D. , Ben‐Rafael Z. , Meizner I.
Published: March 2003

Objective

To assess the ability of ultrasound to detect ovaries of normal size during pregnancy

Methods

A prospective study of 329 women with a normal pregnancy course was undertaken; 68 were excluded from analysis because of an enlarged, cystic ovary. Of the remainder, 60 pregnancies were examined in the first trimester and 201 in the second or third trimester. The first group underwent transvaginal (TVS) and transabdominal (TAS) scanning. The second group underwent TAS examination only.

Results

In the first‐trimester group, TVS identified both ovaries in 57 patients (95%) and transabdominal ultrasound in 20 (33.3%). In the second‐ and third‐trimester patients, TAS visualized both ovaries in 33 patients (16.4%), and neither ovary in 120 (59.7%). Both ovaries were less visible with advancing gestational age. The right ovary showed a significant change in position during pregnancy, from about 1 cm (at 15–24 weeks) to 2.5 cm (at 30–41 weeks) cranial to the iliac spine. The left ovary was found 1 cm above the iliac spine throughout pregnancy.

Conclusions

Transvaginal sonography is adequate for the visualization of both ovaries in the first trimester of pregnancy. With advanced gestational age, the ovaries were significantly less visible by TAS. Sonographic scanning of the ovaries in second and third trimester should be concentrated mainly at the level of the iliac spine. Poor sonographic visualization of both ovaries in late gestation may mandate the use of other imaging modalities. Copyright © 2000 International Society of Ultrasound in Obstetrics and Gynecology
The coronary sinus in the fetus
Authors: Rein A. J. J. T. , Nir A. , Nadjari M.
Published: March 2003

Introduction

The normal coronary sinus drains venous blood from the cardiac veins to the right atrium. In some instances, the coronary sinus may be dilated due to volume or more rarely pressure overload.

Aims

To assess the feasibility of detecting the coronary sinus in the fetus and to establish the normal values of the coronary sinus dimensions throughout gestation.

Subjects and methods

Fetal echocardiography was performed in 78 normal fetuses from the 16th to the 40th week of gestation (median 25 week). The coronary sinus was measured in four‐chamber view (87% of cases) or in parasternal short axis view equivalent (13%). A second group of nine fetuses with a dilated coronary sinus was compared to the normal group.

Results

Adequate imaging of coronary sinus was obtained in 97.4% of the normal fetuses. The diameter of the coronary sinus ranged from 1 to 3.2 mm (2 mm ± 0.13 mm, mean ± 5% confidence interval) and correlated well with the age of pregnancy (r = 0.86). The length‐to‐diameter ratio of 24% (± 6%) did not vary throughout pregnancy. All nine fetuses with a dilated coronary sinus had a persistent left superior vena cava which drained into it.

The diameter of the coronary sinus was approximately three times larger in the abnormal group with a diameter‐to‐length ratio of approximately 83% (P < 0.0001).

Conclusion

The coronary sinus is readily identified in the fetus. It gradually increases during pregnancy. An abnormal coronary sinus is easily diagnosed and should prompt the sonographer to look for a persistent left superior vena cava. Copyright © 2000 International Society of Ultrasound in Obstetrics and Gynecology
Fetal biometry at 4300 m compared to sea level in Peru
Authors: Krampl E. , Lees C. , Bland J. M. , Espinoza Dorado J. , Moscoso G. , Campbell S.
Published: March 2003

Objectives

The aim of this study was to compare ultrasound fetal size at high altitude and sea level.

Methods

Three hundred and thirty‐four women in Cerro de Pasco at 4300 m (14 100 ft) altitude and 278 women in Lima (sea level) were recruited to the study. Ultrasound fetal biometry was carried out between 14 and 42 weeks of gestation. Biparietal diameter, occipitofrontal diameter, abdominal circumference and femur length were measured and head circumference and estimated fetal weight were derived from these data. Two hundred and seventy‐seven women (82.9%) in Cerro de Pasco and 216 (77.7%) in Lima had normal singleton pregnancies and certain menstrual dates. These women were selected for statistical analysis. Fractional polynomial regression analysis on gestational age was performed, controlling for maternal height and parity.

Results

Fetal biometry measurements were significantly smaller in Cerro de Pasco compared with Lima. When gestation bands were compared this effect was present from 25 to 29 weeks onwards, and was greater in the abdominal circumference than in the head circumference and femur length (ratios Cerro de Pasco: Lima, 0.96, 0.97 and 0.98, respectively). Estimated fetal weight was also significantly lower in Cerro de Pasco (ratio 0.88), as were birthweights (ratio 0.88). If the centiles derived from the Lima population were applied for Cerro de Pasco, 11.2% of all estimated fetal weights would be below the fifth centile, and 1.08% above the ninety‐fifth.

Conclusions

These data suggest that at high altitude, all fetal biometry measurements follow a lower trajectory than at sea level. Specific biometry charts should therefore be used for obstetric ultrasound at high altitude. Copyright © 2000 International Society of Ultrasound in Obstetrics and Gynecology
Fetal cleft lip and palate detection by three‐dimensional ultrasonography
Authors: Lee W. , Kirk J. S. , Shaheen K. W. , Romero R. , Hodges A. N. , Comstock C. H.
Published: March 2003

Objectives

To demonstrate a standardized approach for the evaluation of cleft lip and palate by three‐dimensional (3D) ultrasonography.

Design

This was a retrospective study of seven fetuses with confirmed facial cleft anomalies. Post‐natal findings were compared to a blinded review of 3D volume data from abnormal fetuses with seven other normal fetuses that were matched for gestational age. Upper lip integrity was examined by 3D multiplanar imaging. Sequential axial views were used to evaluate the maxillary tooth‐bearing alveolar ridge contour and anterior tooth socket alignment. Alveolar ridge disruption suggested cleft palate. Premaxillary protrusion, either by multiplanar imaging or surface rendering, indicated bilateral cleft lip and palate.

Results

Post‐natal findings confirmed bilateral cleft lip and palate (four cases), unilateral cleft lip and palate (one case), and unilateral cleft lip (two cases). Multiplanar review identified all three fetuses with unilateral cleft lip, three of four fetuses with bilateral cleft lip, one fetus with unilateral cleft palate, and three of four fetuses with bilateral cleft palate. Surface rendering correctly identified all cleft lips, with the exception of one fetus, who was thought to have a unilateral cleft lip and palate, despite the actual presence of a bilateral lesion. One cleft palate defect was directly visualized by 3D surface rendering. No false‐positives occurred.

Conclusion

Interactive review of standardized 3D multiplanar images allows one to evaluate labial defects, abnormalities of the maxillary tooth‐bearing alveolar ridge, and presence of premaxillary protrusion for detecting cleft lip and palate anomalies. Surface rendering may increase diagnostic confidence for normal or abnormal studies. This technology provides an array of visualization tools that may improve the prenatal characterization of facial clefts, particularly of the palate. Copyright © 2000 International Society of Ultrasound in Obstetrics and Gynecology
Three‐dimensional multiplanar transvaginal ultrasound of the cervix in pregnancy
Authors: Bega G. , Lev‐Toaff A. , Kuhlman K. , Berghella V. , Parker L. , Goldberg B. , Wapner R.
Published: March 2003

Objectives

To develop a standard technique for using three‐dimensional ultrasound (3D US) to study and evaluate the cervix in pregnant women at high risk for premature delivery, comparing the findings on 3D US with those on conventional two‐dimensional ultrasound (2D US).

Study Design

Twenty‐one pregnant women at high risk for premature delivery had a total of 37 transvaginal 2D and 3D US examinations of the cervix between 11 and 32 weeks' gestation. A 3D US vaginal probe (5.0–8.0 MHz, Voluson 530D, Medison, Pleasanton, CA, USA) was used. Measurements made from the 2D and 3D US were compared.

Results

Of the 37 cervical length measurements in 3D US sagittal plane, seven were shorter and three were longer than on 2D US (varying by 5–15 mm) indicating that the true mid‐sagittal plane was not obtained in ten (27%) of the 37 2D US examinations. Of 21 examinations showing funneling, funneling was seen on both 2D and 3D US in 15, but was seen only on 3D US in six. There was a significant (P < 0.05) difference between funnel width as measured in the coronal 3D plane versus 2D US, as well as between funnel width in the coronal 3D US plane versus sagittal 3D US plane (P < 0.05). The cerclage was seen in its entirety in nine of 10 examinations; the 3D US axial plane was most valuable for imaging the cerclage.

Conclusions

3D US appears to offer a more complete assessment of the cervix than 2D US. Multiplanar correlation shows that the standard 2D US sagittal view may under‐ or over‐estimate cervical length. Our preliminary data suggest that 3D US has the potential to improve our understanding of cervical morphology. Copyright © 2000 International Society of Ultrasound in Obstetrics and Gynecology
Characterization and natural history of ventricular septal defects in the fetus
Authors: Paladini D. , Palmieri S. , Lamberti A. , Teodoro A. , Martinelli P. , Nappi C.
Published: March 2003

Objective

To characterize and describe the evolution of ventricular septal defects (VSD) from intra‐uterine diagnosis to infancy in a population of fetuses with isolated defects.

Methods

Sixty‐eight fetuses with isolated VSD represented the study population. Of these, 28 underwent termination of pregnancy, 14 died in utero or after birth and 26 reached 1 year of age. In this population, the following variables were evaluated: presence of extra‐cardiac or chromosomal anomalies, site and size of the defect, pregnancy outcome. These variables were assessed against closure of the VSD up to 1 year of age. Necropsies were available for all fetuses following termination of pregnancy. All surviving neonates were followed up directly or by telephone until documented echocardiographic closure of the defect or until 1 year of age.

Results

There was a significant correlation between type of VSD and type of aneuploidy (P < 0.001). A total of 26 surviving fetuses reached 1 year of age: 46.1% (n = 12) of all defects closed in utero, 23.1% (n = 6) closed during the first year of life and 30.8% (n = 8) remained patent. Only three (15.8%) of the 19 VSDs < 3 mm remained patent in comparison with five (71.4%) of the seven defects > 3 mm (P < 0.05). None of the malalignment VSDs closed, in comparison to 69% of the peri‐membranous and 60% of the muscular defects.

Conclusion

Ventricular septal defect can undergo spontaneous closure during intra‐uterine life and this process depends upon the site and the size of the defect. These data may provide useful additional information to aid prenatal counseling. Copyright © 2000 International Society of Ultrasound in Obstetrics and Gynecology
Ultrasound assessment of the endometrium in healthy, asymptomatic early post‐menopausal women: saline infusion sonohysterography versus transvaginal ultrasound
Authors: Neele S. J. M. , Marchien Van Baal W. , Van Der Mooren M. J. , Kessel H. , Coen Netelenbos J. , Kenemans P.
Published: March 2003

Objective

To exclude pre‐existing endometrial pathology in asymptomatic early post‐menopausal women before starting hormone replacement therapy by transvaginal ultrasound (TVS) and saline infusion sonohysterography (SIS).

Methods

In a cross‐sectional study, 148 healthy women (mean age, 51.1 years; range, 46–59 years) underwent ultrasound evaluation of the endometrium before participation in a clinical trial. TVS was used to measure double‐layer endometrial thickness. SIS was performed at the same visit to measure anterior and posterior single‐layer endometrial thickness, and to identify endometrial abnormalities when present. Ultrasound results were defined as informative if the endometrium could be adequately visualized. Findings on TVSs were defined as abnormal if a double‐layer endometrial measurement >5.0 mm was obtained. Findings on SIS were defined as abnormal if one or both single layers of the endometrium measured >2.5 mm, or if focal endometrial thickening or a polyp was present.

Results

Of the 148 eligible women, informative TVS results were obtained from 134 women, SIS results from 133 women and both procedures combined from 119 women. TVS scans gave abnormal results in 8.2% of women (11 of 134) and SIS gave abnormal results in 36.8% of women (49 of 133). Of the 14 women with a non‐informative TVS, eight had abnormal SIS results. Of the 15 women with a non‐informative SIS, three had abnormal TVS results. In the 119 women with both informative TVS and SIS, abnormal TVS scans were found in 6.7% of women (eight of 119) and abnormal SIS in 34.5% of women (41 of 119). All eight women with abnormal TVS had an abnormal SIS, whereas 29.7% (33 of 111) of the women with a normal TVS had an abnormal SIS.

Conclusions

Ultrasound evaluation demonstrated endometrial abnormalities in 34.5% (41 of 119) of asymptomatic post‐menopausal women. SIS is more accurate than TVS in the detection of endometrial abnormalities. Copyright © 2000 International Society of Ultrasound in Obstetrics and Gynecology
Reverse flow in the umbilical vein in a case of trisomy 9
Authors: Murta C. , Moron A. , Ávila M. , França L. , Vargas P.
Published: March 2003

This report describes a case of reverse flow in the umbilical vein and ductus venosus during atrial contraction of a fetus at 12 weeks of gestation with increased nuchal translucency (9.1 mm). In addition, Doppler velocimetry detected high retrograde flow in the inferior vena cava. Cytogenetic analysis of chorionic villi revealed trisomy 9. We suggest that these findings may be a first trimester sign of chromosomal and cardiac abnormalities in the fetus. Copyright © 2000 International Society of Ultrasound in Obstetrics and Gynecology
Isolated echogenic foci in the fetal heart as marker of chromosomal abnormality
Authors: Huggon I. C. , Cook A. C. , Simpson J. M. , Smeeton N. C. , Sharland G. K.
Published: March 2003

Objective

To assess the effect of echogenic foci in the fetal heart on the risk for Down's syndrome.

Design

Prospective evaluation of fetal echocardiograms at a fetal cardiology referral center and systematic postnatal follow‐up. A relative risk was calculated from the prevalence of echogenic foci in fetuses subsequently demonstrated to have trisomy 21 divided by that in normal fetuses. For a subgroup of 548 fetuses with echogenic foci but otherwise normal detailed anomaly scans, the expected number of trisomy 21 fetuses calculated from maternal age risks was compared with the observed number to derive a relative risk for isolated echogenic foci.

Results

Echogenic foci occurred in 905 of 6904 fetuses scanned, but after excluding those referred specifically because of an echogenic focus and those with heart defects, the incidence was 9.5%. Overall, echogenic foci were more frequent in fetuses with trisomy 21 than those without by a factor of 2.93. For the 548 fetuses with echogenic foci but otherwise normal detailed anomaly scans, the actual number of trisomy 21 fetuses exceeded that expected on the basis of maternal age risks by a factor of 5.54. Combination with data from several previous studies suggests a consensus relative risk of about 3.0.

Conclusions

Echogenic foci are associated with increased risk of trisomy 21 even when present as an isolated finding. Their significance in an individual should be interpreted in the light of prior risk assessment based on maternal age and results of any first‐trimester screening tests. We suggest that the prior risk is increased by a factor of 3.0. Copyright © 2001 International Society of Ultrasound in Obstetrics and Gynecology
Nuchal translucency measurement and pregnancy outcome in karyotypically normal fetuses
Authors: Michailidis G. D. , Economides D. L.
Published: March 2003

Objective

The aim of the study was to evaluate the use of nuchal translucency measurement as a marker of adverse pregnancy outcome in karyotypically normal fetuses.

Methods

During the years 1995–99, nuchal translucency (NT) measurement was routinely offered to all women who had their dating scan in our unit. From the data collected, we calculated the 95th and 99th centiles of the NT for a given crown–rump length using regression analysis. The NT measurements were analyzed in relation to pregnancy outcome, especially with regards to miscarriage, intrauterine death and diagnosis of fetal structural abnormalities, after excluding chromosomal abnormalities.

Results

The pregnancy outcome was available in 6650 (89%) of the 7500 pregnancies. In fetuses with an NT over the 99th centile, 17.8% (relative risk 12.2, 95% CI 7.2–20.8) had an adverse pregnancy outcome (miscarriage, intrauterine death, or termination for fetal abnormality) versus 1.5% for those with a normal measurement. The incidence of structural abnormalities, especially heart defects, was significantly increased in the high‐NT groups. Three out of 11 fetuses with major cardiac abnormalities had an NT measurement over the 99th centile. The calculated relative risk for major heart defects in fetuses with increased NT was 33.5 (95% CI 9–123).

Conclusion

In the setting of routine antenatal screening, an increased NT measurement is a marker of a high‐risk pregnancy even in karyotypically normal fetuses. In addition, the increased incidence of structural abnormalities makes the close follow‐up of these pregnancies imperative and should include specialized fetal echocardiography. Copyright © 2001 International Society of Ultrasound in Obstetrics and Gynecology
Fetal hydrops and hepatosplenomegaly in the second half of pregnancy: a sign of myeloproliferative disorder in fetuses with trisomy 21
Authors: Smrcek J. M. , Baschat A. A. , Germer U. , Gloeckner‐Hofmann K. , Gembruch U.
Published: March 2003

Objective

To demonstrate the relationship between fetal hydrops and/or hepatosplenomegaly in the second half of pregnancy with a myeloproliferative disorder in fetuses with trisomy 21 or mosaic trisomy 21.

Design

A retrospective case series.

Subjects

Cases were selected from 79 cases of trisomy 21 diagnosed in our prenatal unit between 1993 and 1999.

Methods

All fetuses had a detailed sonographic anatomic survey and biometry. Doppler of the umbilical and middle cerebral arteries, ductus venosus, inferior vena cava and umbilical vein was performed whenever possible. Two‐dimensional echocardiography supplemented by color Doppler flow mapping and spectral pulsed wave Doppler was performed in all cases of fetal hydrops. Fetal karyotyping was obtained by amniocentesis, chorionic villus sampling or fetal blood sampling. In the presence of fetal hydrops a cordocentesis was performed for fetal hematology, biochemistry and TORCH serology. In cases with diagnosis of myeloproliferative disorder, peripheral blast cells were characterized by microscopy, cytochemistry and determination of surface markers. All cases with myeloproliferative disorder were stillborn and subsequently had a postmortem examination performed.

Results

During the study period 79 cases of trisomy 21 were diagnosed. Eleven of these had fetal hydrops. Three of these fetuses presented with hepatosplenomegaly and myeloproliferative disorder in the second and third trimesters. In addition, one fetus with sonographic markers of trisomy 21, where karyotyping was unfortunately unsuccessful, presented with hepatosplenomegaly, hydrops and myeloproliferative disorder. In the four fetuses with hepatosplenomegaly and hydrops, serology was negative for congenital infection. The characteristics of blast cells in the peripheral blood smear revealed a myeloproliferative disorder.

Conclusion

Fetal hydrops and/or hepatosplenomegaly in the second half of pregnancy, although suggestive of infectious etiology, may be a sign of myeloproliferative disorder in fetuses with trisomy 21 or mosaic trisomy 21. There is a possibility that a transient myeloproliferative disorder is a more common cause of mid or late‐trimester hydrops in cases of trisomy 21 than previously thought. In these hydropic fetuses the prognosis seems to be poor. On the other hand we can speculate that a myeloproliferative disorder and the associated hepatosplenomegaly and/or hydrops may show spontaneous remission or that the transient myeloproliferative disorder may be without any detectable ultrasonographic signs and therefore may be more frequent in utero than realized. Copyright © 2001 International Society of Ultrasound in Obstetrics and Gynecology
Third‐trimester transvaginal ultrasonography in placenta previa: does the shape of the lower placental edge predict clinical outcome?
Authors: Ghourab S.
Published: March 2003

Objective

To evaluate the clinical significance of the shape of the lower placental edge in women with transvaginal sonographic diagnosis of placenta previa.

Design

A prospective observational study at a tertiary teaching hospital.

Population

A total of 104 women with confirmed transvaginal sonographic diagnosis of placenta previa before 32 weeks' gestation.

Methods

Initial transvaginal sonography was performed at between 28 and 32 weeks' gestation in 138 patients with either strong clinical suspicion or previous abdominal sonographic diagnosis of placenta previa in the early third trimester. The lower placental edge was found to be positioned over the internal cervical os in 33 women (complete previa) and within 3 cm from it in 71 women (low‐lying placenta). Patients with low‐lying placenta were followed up by serial transvaginal sonographic examinations until delivery; detailed information including the placental location (anterior or posterior), the distance of its edge from the internal cervical os and its thickness were recorded. The clinical outcomes of the 17 who had a thick‐edge low‐lying placenta were compared with those who had a thin‐edge one (54 women). In patients with complete placenta previa, demographic data, the shape of the lower placental edge whenever transvaginal sonography visualized it, and the clinical outcomes were documented. The incidence of major complications in thick‐edge or central placenta was compared to that in the thin‐edge group.

Results

Women having a low‐lying placenta with a thick edge had a significantly higher rate of antepartum hemorrhage (P = 0.0002), abdominal delivery (P = 0.02), abnormally adherent placenta (P = 0.012) and low birth weight (P = 0.006) than those in whom the placental edge was thin. Cesarean hysterectomy was required in six patients with complete placenta previa because of severe peripartum hemorrhage; all of them had either central or thick‐edge placenta accreta.

Conclusion

Women with placenta previa are at a relatively higher risk of developing complications if the lower placental edge is thick. Integration of the shape of the lower placental edge into transvaginal sonographic assessment of placenta previa may improve the prediction of mode of delivery and clinical outcome. Copyright © 2001 International Society of Ultrasound in Obstetrics and Gynecology
Ultrasound prenatal diagnosis of fetus in fetu
Authors: Mills P. , Bornick P. W. , Morales W. J. , Allen M. , Gilbert‐Barness E. , Johnson P. K. , Quintero R.
Published: March 2003

A case of fetus in fetu was diagnosed prenatally using ultrasound. The differential diagnosis between a fetus in fetu and a highly differentiated teratoma is discussed. The importance of prenatal diagnosis of fetus in fetu and the effect on subsequent management are described. Copyright © 2001 International Society of Ultrasound in Obstetrics and Gynecology
Recurrent cytomegalovirus infection during pregnancy: ultrasonographic diagnosis and fetal outcome
Authors: Henrich W. , Meckies J. , Dudenhausen J. W. , Vogel M. , Enders G.
Published: March 2003

Fetal infection as a consequence of recurrent disease is uncommon. We present a case of recurrent cytomegalovirus infection in the second trimester of pregnancy. Fetal infection was detected through severely abnormal findings on ultrasound examination and verified by detecting cytomegalovirus DNA in the amniotic fluid and cytomegalovirus‐specific immunoglobulin M antibodies in the fetal blood and associated pancytopenia. Because of the severity of the infection, a fatal outcome was predicted. A Cesarean section was performed at 33 + 5 weeks of gestation; the child died shortly after birth. Copyright © 2002 ISUOG
Impact of laser coagulation in severe twin–twin transfusion syndrome on fetal Doppler indices and venous blood flow volume
Authors: Gratacós E. , Van Schoubroeck D. , Carreras E. , Devlieger R. , Roma E. , Cabero L. , Deprest J.
Published: March 2003

Objective

To evaluate the impact of fetoscopic laser coagulation of placental anastomoses in severe twin–twin transfusion syndrome on fetal Doppler indices and umbilical vein blood flow volume as calculated with Doppler and two‐dimensional ultrasound.

Methods 

Thirty‐two cases of second‐trimester severe twin–twin transfusion undergoing laser therapy were examined with serial ultrasound before and 1, 3 and 5 days after therapy. Pulsatility indices in the umbilical artery and ductus venosus were measured. Blood volume flow at the level of the intra‐abdominal umbilical vein was calculated by means of Doppler and two‐dimensional ultrasound. The development of hydropic signs in donors was recorded. Perinatal outcome in terms of neonatal survival was recorded for all cases.

Results

In recipients, ductus venosus pulsatility index decreased progressively after therapy and, by day 5, median pulsatility index was significantly lower than that before therapy (0.97 vs. 0.82, P < 0.0001). Umbilical vein blood flow volume in recipient twins showed no significant variations before and after laser. In donors, umbilical artery pulsatility index decreased significantly by the first day following therapy (2.1 vs. 1.6, P < 0.0001). Previously absent or reverse umbilical end‐diastolic flow reappeared after therapy in 46% (7/15) of donors. Ductus venosus pulsatility index in donors increased significantly by day 1 after therapy (0.99 vs. 1.35, P < 0.0001) but, over days 3 and 5, it returned towards preoperative values. Umbilical vein flow volume measurements (mL/min/kg) in the donor increased by approximately 50% the day after treatment (151 vs. 232, P < 0.0001) and remained elevated. Umbilical vein flow volume before laser therapy was significantly lower in donors compared to recipients (151 vs. 260, P < 0.0001), but the difference was non‐significant after treatment (240 vs. 267). One or more hydropic signs developed in eight (25%) donors during the 5 days' observation after therapy.

Conclusions

Laser therapy induced important changes in fetal hemodynamic parameters, resulting in a reversion of the disturbances associated with severe twin–twin transfusion syndrome. The recipient twin showed a progressive improvement of previous signs of right cardiac overload. The donor experienced a substantial increase in umbilical vein blood volume flow accompanied by a transitory state of relative right overload, which may explain the development of transient hydropic signs in a proportion of donors. Copyright © 2000 International Society of Ultrasound in Obstetrics and Gynecology
One‐stop clinic for assessment of risk for trisomy 21 at 11–14 weeks: a prospective study of 15 030 pregnancies
Authors: Bindra R. , Heath V. , Liao A. , Spencer K. , Nicolaides K. H.
Published: March 2003

Objective

To evaluate the performance of a one‐stop clinic for assessment of risk (OSCAR) for trisomy 21 by a combination of maternal age, fetal nuchal translucency (NT) thickness and maternal serum free β‐human chorionic gonadotropin (hCG) and pregnancy‐associated plasma protein‐A (PAPP‐A) at 11–14 weeks of gestation.

Method

Screening for trisomy 21 was carried out by OSCAR in 15 030 singleton pregnancies with live fetuses at 11–14 weeks. The estimated risk for trisomy 21 was calculated, and the women were counseled regarding this risk and the option of invasive testing or expectant management. Follow‐up of the outcome of all pregnancies was carried out. The detection and false‐positive rates for different risk cut‐offs were calculated.

Results

Fetal NT and maternal serum free β‐hCG and PAPP‐A were successfully measured in all cases. Pregnancy outcome, including karyotype results or the birth of a phenotypically normal baby, was obtained from 14 383 cases. The median maternal age of these cases was 34 (range 15–49) years and in 6768 (47.1%) the age was 35 years or greater. The median gestation at screening was 12 (range 11–14) weeks and the median fetal crown–rump length was 64 (range 45–84) mm. The estimated risk for trisomy 21 based on maternal age, fetal NT and maternal serum free β‐hCG and PAPP‐A was 1 in 300 or greater in 6.8% (967 of 14 240) normal pregnancies, in 91.5% (75 of 82) of those with trisomy 21 and in 88.5% (54 of 61) of those with other chromosomal defects. For a fixed false‐positive rate of 5% the respective detection rates of screening for trisomy 21 by maternal age alone, maternal age and serum free β‐hCG and PAPP‐A, maternal age and fetal NT, and by maternal age, fetal NT and maternal serum biochemistry were 30.5%, 59.8%, 79.3% and 90.2%, respectively.

Conclusion

Screening for trisomy 21 by a combination of maternal age, fetal NT and maternal serum biochemistry at 11–14 weeks can be provided in an OSCAR setting and is associated with a detection rate of about 90% for a false‐positive rate of 5%. Copyright © 2002 International Society of Ultrasound in Obstetrics and Gynecology
Prenatal ultrasound findings in a fetus with congenital contractural arachnodactyly
Authors: Kölble N. , Wisser J. , Babcock D. , Maslen C. , Huch R. , Steinmann B.
Published: March 2003

Congenital contractural arachnodactyly (CCA) or Beals–Hecht syndrome is an autosomal dominant disorder caused by mutations in the fibrillin‐2 (FBN2) gene. The principal features of CCA are a marfanoid habitus, multiple congenital contractures, camptodactyly, arachnodactyly, kyphoscoliosis, muscular hypoplasia, and external ear malformations.

Our case is the first that shows typical sonographic signs in a fetus at 25 weeks' gestation with molecular genetically verified CCA in a large family with many members affected over four generations. This demonstrates that CCA can be detected prenatally by non‐invasive ultrasonography. The importance of confirmation of CCA by means of DNA sequence analysis of the FBN2 gene is stressed. Copyright © 2002 International Society of Ultrasound in Obstetrics and Gynecology
Bedside estimation of Down syndrome risk during first‐trimester ultrasound screening
Authors: Herman A. , Dreazen E. , Herman A. M. , Batukan C. E. M. , Holzgreve W. , Tercanli S.
Published: March 2003

Objective

To construct tables for ‘bedside’ estimation of Down syndrome risk based on maternal age and nuchal translucency measurements.

Methods

Likelihood ratios were calculated using the log multiple of median Gaussian model. The parameters for the model (mean and standard deviation) were derived from 5560 normal and 51 Down syndrome‐affected pregnancies scanned during the first trimester in three different centers. Equations for calculating maternal background risk and median values were obtained from previous reports. The results were compared to two modalities using the log Gaussian model and software that uses the delta‐value model.

Results

The distribution fitted the data well, and the parameters obtained in the study group for the log multiple of median model were a mean of 0 and a standard deviation of 0.12356 among normal pregnancies and a mean of 0.305312 and a standard deviation of 0.240337 among Down syndrome‐affected ones. The likelihood ratios obtained for the various combinations of fetal crown–rump lengths and nuchal translucency measurements were comparable to other modalities reported earlier.

Conclusions

The results of the current study provide useful tables for simple and accurate ‘bedside’ estimation of Down syndrome risk without the need for computerized software or complicated calculations. Copyright © 2002 International Society of Ultrasound in Obstetrics and Gynecology
Evolution of vertebrate forebrain development: how many different mechanisms?
Authors: FOLEY ANN C. , STERN CLAUDIO D.
Published: March 2003

abstract

Over the past 50 years and more, many models have been proposed to explain how the nervous system is initially induced and how it becomes subdivided into gross regions such as forebrain, midbrain, hindbrain and spinal cord. Among these models is the 2‐signal model of Nieuwkoop & Nigtevecht (1954), who suggested that an initial signal (‘activation’) from the organiser both neuralises and specifies the forebrain, while later signals (‘transformation’) from the same region progressively caudalise portions of this initial territory. An opposing idea emerged from the work of Otto Mangold (1933) and other members of the Spemann laboratory: 2 or more distinct organisers, emitting different signals, were proposed to be responsible for inducing the head, trunk and tail regions. Since then, evidence has accumulated that supports one or the other model, but it has been very difficult to distinguish between them. Recently, a considerable body of work from mouse embryos has been interpreted as favouring the latter model, and as suggesting that a ‘head organiser’, required for the induction of the forebrain, is spatially separate from the classic organiser (Hensen's node). An extraembryonic tissue, the ‘anterior visceral endoderm’ (AVE), was proposed to be the source of forebrain‐inducing signals. It is difficult to find tissues that are directly equivalent embryologically or functionally to the AVE in other vertebrates, which led some (e.g. Kessel, 1998) to propose that mammals have evolved a new way of patterning the head. We will present evidence from the chick embryo showing that the hypoblast is embryologically and functionally equivalent to the mouse AVE. Like the latter, the hypoblast also plays a role in head development. However, it does not act like a true organiser. It induces pre‐neural and pre‐forebrain markers, but only transiently. Further development of neural and forebrain phenotypes requires additional signals not provided by the hypoblast. In addition, the hypoblast plays a role in directing cell movements in the adjacent epiblast. These movements distance the future forebrain territory from the developing organiser (Hensen's node), and we suggest that this is a mechanism to protect the forebrain from caudalising signals from the node. These mechanisms are consistent with all the findings obtained from the mouse to date. We conclude that the mechanisms responsible for setting up the forebrain and more caudal regions of the nervous system are probably similar among different classes of higher vertebrates. Moreover, while reconciling the two main models, our findings provide stronger support for Nieuwkoop's ideas than for the concept of multiple organisers, each inducing a distinct region of the CNS.
Transplanting oligodendrocyte progenitors into the adult CNS
Authors: FRANKLIN ROBIN J. M. , BLAKEMORE WILLIAM F.
Published: March 2003

This review covers a number of aspects of the behaviour of oligodendrocyte progenitors following transplantation into the adult CNS. First, an account is given of the ability of transplanted oligodendrocyte progenitors, grown in tissue culture in the presence of PDGF and bFGF, to extensively remyelinate focal areas of persistent demyelination. Secondly, we describe how transplanted clonal cell lines of oligodendrocyte progenitors will differentiate into astrocytes as well oligodendrocytes following transplantation into pathological environments in which both oligodendrocytes and astrocytes are absent, thereby manifesting the bipotentially demonstrable in vitro but not during development. Finally, a series of studies examining the migratory behaviour of transplanted oligodendrocyte progenitors (modelled using the oliodendrocyte progenitor cell line CG4) are described. These show that CG4 cells do not survive (or migrate) when transplanted into the normal adult CNS. However, if they are transplanted into CNS tissue that has previously been exposed to 40 Gy of x‐irradiation then transplanted CG4 cells survive, divide and migrate over large distances. Moreover, within an x‐irradiated environment, migrating transplanted CG4 cells are able to enter remotely located foci of demyelination and contribute to the remyelination of the demyelinated axons within. These studies demonstrate that although the normal adult CNS does not appear to support survival and migration of the CG4 cell line, it is possible to manipulate the environment in such a way that these nonpermissive properties of the environment can be overcome.
Investigation of the influence of the Mm musculus MyoD1 allele on the efficiency of skeletal muscle regeneration
Authors: MARLOW S. A. , KAY P. H. , McGEACHIE J. K. , PAPADIMITRIOU J. M.
Published: March 2003

MyoD1 alleles distinguish between the Mm musculus and Mm domesticus subspecies of Mus musculus. SJL/J mice, which belong to the Mm musculus subspecies, are able to regenerate skeletal muscle more efficiently than BALB/c mice which possess the Mm domesticus MyoD1 allele. Hence the possibility that regeneration responses are due to species‐specific genetic differences including MyoD1 was investigated in this study. Quantitative morphometric analysis following muscle crush injury of 2 Mm musculus strains, MBK and MGL, has indicated that regeneration phenotype is not species‐specific and may not be directly related to MyoD1 alleles. These results contrast with prior investigations conducted in SJL/J and BALB/c mice, and indicate that other genes may have a direct influence on skeletal muscle regeneration.