Prenatal ultrasonographic diagnosis of persistent hyperplastic primary vitreous.

Persistent hyperplastic primary vitreous (PHPV) is a rare developmental malformation of the eye characterized by the presence of a vascular membrane located behind the lens. We report, for the first time in the literature, the identification on ultrasound examination of bilateral cataract and thickened hyaloid artery-lens junction, leading to a diagnosis of bilateral PHPV, in a fetus at 23 weeks' gestation. Histological examination at postmortem confirmed the prenatal diagnosis of bilateral PHPV and cataract. A thorough ultrasound examination of the fetal eye in cases with cataract is recommended.

Three- and four-dimensional ultrasound: new methods for evaluating fetal thoracic anomalies.

OBJECTIVE: To study three- (3D) and four-dimensional (4D) ultrasound applications for the evaluation of fetal thoracic anomalies. METHODS: Volume datasets of 23 fetuses with thoracic anomalies were acquired with static 3D and cine 4D ultrasound, i.e. spatiotemporal image correlation (STIC) mode. The volumes were analyzed and displayed by multiplanar and tomographic ultrasound imaging (TUI) modes and static volume contrast imaging (VCI). Color Doppler was added to the volumes acquired, and various rendering modes were used to display the volume datasets. RESULTS: The mean gestational age at evaluation was 22 (range, 14-34) weeks. The anomalies were identified as: diaphragmatic hernia (n = 5), lung dysplasia (n = 11), skeletal dysplasia with small thorax/thanatophoric dysplasia (n = 2), abnormal situs (n = 2), hydrothorax (n = 2) and esophageal atresia (n = 1). The TUI mode achieved optimal display of the thorax, thereby aiding the diagnosis of diaphragmatic hernia and lung dysplasia. In right diaphragmatic hernias, the VCI mode proved invaluable as it distinguished liver from lung tissue. High-definition color Doppler with glass-body rendering significantly contributed to the detection of abnormal vascularization in lung dysplasia. Maximal transparent mode with a transvaginal transducer provided accurate diagnosis of skeletal dysplasia in the first trimester. Situs abnormalities were best viewed with a minimal transparent mode, in which abnormal organs and positions of vessels were clearly identified. Pleuroamniotic shunt localization was monitored precisely by 3D in a fetus with hydrothorax, and inversion mode added important information regarding the size of an esophageal pouch in a fetus with esophageal atresia. CONCLUSION: The 3D-4D technique is a novel, useful sonographic tool for evaluating the fetal thorax. It enhances precise diagnosis and provides better spatial visualization of the anomalies involved.

Secondary cytomegalovirus infection can cause severe fetal sequelae despite maternal preconceptional immunity.

OBJECTIVES: To describe our experience in cases with sonographic signs of fetal infection and with maternal serological 'immunity' to cytomegalovirus (CMV) infection. METHODS: This was a bicenter study of six pregnant women referred for evaluation of suspected fetal infection. All cases had confirmed maternal serology for past exposure to CMV but no evidence of recent secondary CMV infection. All underwent sonographic evaluation as well as complete investigation for CMV infection. RESULTS: The mean age of the women was 29 (range, 23-35) years and the mean gestational age at diagnosis was 23.5 weeks (range, 20-31) weeks. Sonographic findings included microcephaly, ventriculomegaly, periventricular calcifications and cystic lesions, echogenic bowel, hydrops and hepatosplenomegaly. Amniocentesis was performed in all cases for fetal karyotyping and viral assessment, and all were found by polymerase chain reaction to be positive for CMV infection. Four pregnancies were terminated following the parents' request. One pregnancy continued until intrauterine fetal death occurred 2 weeks after diagnosis. Postmortem was denied in all cases but one. One infant was delivered with evidence of severe cerebral palsy. CONCLUSION: In the presence of sonographic findings suggestive of fetal CMV infection, prompt investigation of amniotic fluid should follow even if maternal serology does not support recent maternal seroconversion.

Fetal aberrant right subclavian artery in normal and Down syndrome fetuses.

OBJECTIVES: To evaluate the prevalence of fetal aberrant right subclavian artery (ARSA) in a low-risk population and compare it with that among Down syndrome fetuses, in order to estimate its potential as a marker in Down syndrome screening. METHODS: Women undergoing routine fetal sonographic examination between 13 and 26 weeks of gestation were evaluated once for the presence of ARSA using either a transvaginal multifrequency 5-9-MHz probe or a transabdominal 4-8-MHz probe as appropriate. Early pregnancy outcome was obtained in all cases. RESULTS: Nine hundred and twenty-four fetuses were recruited. An ARSA was detected in 13 fetuses (1.4%) with normal karyotype. During the study period, eight fetuses with Down syndrome referred either with known karyotype or with signs suspicious for Down syndrome were evaluated by the same protocol. Three of eight fetuses (37.5%) were found to have an ARSA. In none of these cases was ARSA an isolated finding. The odds ratio for ARSA in Down syndrome compared with normal fetuses was 42.04 (95% CI, 9.08-194.6). CONCLUSIONS: An ARSA was found in 1.4% of the normal population. In the small group of Down syndrome fetuses we observed a trend towards a higher rate of ARSA than in normal fetuses. In none of the Down syndrome fetuses was ARSA an isolated finding. Larger prospective studies are needed to examine the significance of ARSA as an isolated finding and the potential of ARSA as a marker in Down syndrome screening.

Prenatal diagnosis of cervical chondrocutaneous vestige.

Cervical chondrocutaneous vestiges or remnants originate from anomalous development of the branchial arches in the fourth week of gestation. Owing to their relative rarity, published data of cervical chondrocutaneous vestiges remain scarce. We report on the diagnosis and associated anomalies of cervical chondrocutaneous vestiges in three fetuses. The association of cervical chondrocutaneous vestige with other anomalies emphasizes the importance of performing meticulous examination and biochemical marker analysis in affected cases.

Clinical improvement and shrinkage of uterine fibroids after thermal ablation by magnetic resonance-guided focused ultrasound surgery.

OBJECTIVE: Hysterectomy or myomectomy are the accepted treatments for symptomatic uterine fibroids. Heat ablation of uterine fibroids has been shown to be an effective alternative treatment. The aim of this study was to determine the clinical efficacy of non-invasive thermal ablation by transcutaneous magnetic resonance-guided high-intensity focused ultrasound (MRgFUS) for the treatment of symptomatic uterine fibroids. METHODS: In this prospective study, MRgFUS ablation of uterine fibroids was performed in 35 symptomatic women scheduled for hysterectomy. Clinical symptoms, patient satisfaction and uterine size were determined at 1 month and 6 months after the procedure. RESULTS: This outpatient procedure was very well tolerated by all women. Sixty-nine percent (24/35) of the treated patients reported either significant or partial improvement in symptoms. Treated fibroids decreased in volume by 12% and 15% at 1 and 6 months, respectively. Minor transient side-effects were observed in two women. Six women underwent hysterectomy during the follow-up period. CONCLUSION: This study demonstrates the clinical efficacy of MRgFUS ablation of uterine fibroids. This novel, non-invasive surgical approach may offer an alternative therapy for women with uterine fibroids.

Sonographic visualization of the middle phalanx of the fetal fifth digit between 13 and 17 weeks of gestation.

OBJECTIVE: To assess in utero visualization of the middle phalanx of the fifth digit (MPFD) between 13 and 17 weeks of gestation. METHODS: This was a prospective cross-sectional study in which women attending for fetal sonographic examination between 13 + 0 and 17 + 6 weeks of gestation were evaluated for the presence of the middle phalanx of the fifth digit (MPFD). A total of 682 fetuses with normal findings on first-trimester anatomical examination were recruited. Using transvaginal multifrequency 4-8 and 5-9 MHz probes, the fifth finger was examined in both axial and lateral views until optimal visualization of the MPFD was achieved. RESULTS: The MPFD was visualized in 14.3% (2/14) of cases at 13 weeks, 70.3% (154/219) at 14 weeks, 82.2% (240/292) at 15 weeks, 97.4% (111/114) at 16 weeks and 100% (43/43) at 17 weeks of gestation. CONCLUSIONS: Ultrasound visualization of the MPFD gradually increases during the 13- to 17-week period. This emphasizes the limited role of non-ossification of the MPFD as a sonographic marker of Down syndrome before 17 weeks of gestation.

Fetal thymus size as a predictor of chorioamnionitis in women with preterm premature rupture of membranes.

OBJECTIVE: Emerging evidence indicates that chorioamnionitis is associated with a significant decrease in thymic size at birth in very low birth weight (VLBW) preterm infants. The aim of this study was to determine whether decreased fetal thymus size is associated with histological or clinical chorioamnionitis in patients with preterm premature rupture of membranes (PROM). METHODS: Twenty-one patients between 24 and 35 weeks of gestation with preterm PROM were included. Serial ultrasound examinations were performed during the latency period, and measurements of the fetal thymus size were obtained. Small thymus was defined as a thymus perimeter < or = 5th percentile according to a fetal thymus nomogram, which was based on measurements of 403 fetuses. Diagnosis of chorioamnionitis was made using neonatal clinical parameters and histological examinations of the placentas. RESULTS: In our study 13 patients presented with thymus size below the 5th percentile. Among the 13 patients with small thymus, nine (69%) had clinical or histological findings consistent with the diagnosis of chorioamnionitis. All eight women with a normal-sized thymus had no evidence of clinical or histological chorioamnionitis. Fetal thymus perimeter < or = 5th percentile yielded a sensitivity of 100%, specificity of 66.7%, a positive predictive value of 69% and a negative predictive value of 100% for identifying chorioamnionitis in patients with preterm PROM. CONCLUSIONS: Fetal thymus size is decreased in women with preterm PROM and chorioamnionitis. Measurement of the fetal thymus might allow an early diagnosis of chorioamnionitis in cases of preterm PROM. Normal thymus size might be used to rule out latent intrauterine infection.

Rotation of the vermis as a cause of enlarged cisterna magna on prenatal imaging.

OBJECTIVES: Dandy-Walker complex is a continuum of developmental anomalies of the posterior fossa which includes vermian rotation. However, vermian rotation alone may be benign. The aim of this study was to describe our experience with sagittal-plane prenatal ultrasound in the diagnosis of rotation of the vermis in cases of suspected enlarged cisterna magna on routine antenatal imaging, and to describe the follow-up of these patients. METHODS: Seven women, who were referred to our ultrasound unit for evaluation of an enlarged fetal cisterna magna and suspected agenesis of the vermis on axial-plane imaging, underwent further multiplanar studies of the posterior fossa and measurements of the vermis. RESULTS: The mean maternal age was 27 (range, 20-33) years and the mean gestational age at diagnosis was 19.5 (range, 18-31) weeks. The standard axial plane image showed a 'direct communication' between the cisterna magna and the fourth ventricle. In the mid-sagittal plane, the vermis was clearly delineated, with posterosuperior rotation. Vermis size was within normal limits for gestational age in all cases. Findings were confirmed by prenatal magnetic resonance imaging (MRI) in two cases and postnatal MRI and/or sonography in five. During a mean follow-up of 4.5 (range, 1-7.5) years, all children developed normally, with no neurological complications. CONCLUSION: The finding of an enlarged cisterna magna on standard- (axial-)plane ultrasound should be evaluated further in the sagittal plane to determine whether the cause is rotation of a normal vermis. This may spare patients unnecessary tests, anxiety and, in some cases, pregnancy termination.

Development of the human fetal pons: in utero ultrasonographic study.

OBJECTIVES: To examine the ultrasonographic feasibility of imaging the fetal pons and to construct a reference chart for its normal development during gestation. METHODS: A cross-sectional, prospective study on 293 healthy fetuses of low-risk pregnancies between 19 and 34 weeks was performed. The transfontanel approach, via the abdominal or vaginal routes, was used to evaluate the fetal metencephalon (pons and cerebellum). The anteroposterior diameter of the fetal pons was measured in a mid-sagittal plane. The longitudinal diameter of the cerebellar vermis was measured at the same plane and the vermis-pons ratio (VPR) was established. RESULTS: One hundred and forty-four fetuses were in vertex position. In 140 (97.2%) satisfactory visualization and measurements of the pons and cerebellar vermis were obtained. One hundred and forty-nine fetuses were breech presentations and measurements were successfully performed in 147 (98.6%). The pons anteroposterior and vermis longitudinal diameters showed a linear correlation with gestational age (GA) (r = 0.95 for both measurements; P < 0.001). The mean VPR was 1.5 (+/-0.1 SD) and did not change in the gestational interval that was considered. CONCLUSION: By using the transfontanel approach, evaluation of the fetal pons is feasible via the mid-sagittal plane. The nomograms developed and the ratio to fetal vermis provides reference data that may be helpful when evaluating anomalies of the brainstem.

Fetal lung dysplasia: clinical outcome based on a new classification system.

OBJECTIVE: To evaluate the clinical application of a new classification system of fetal lung anomalies. METHODS: Forty fetal diagnoses of lung lesions were analyzed according to our proposed classification system in which each lung component is considered using two-dimensional ultrasound and color and power Doppler technology. Medical files, natural history and neonatal follow-up were recorded. RESULTS: Type I dysplasia: Four cases of agenesis of the lung were diagnosed, three with right lung agenesis and one with left lung agenesis. Three of the four patients elected to undergo termination of pregnancy (TOP). The surviving fetus was diagnosed with scimitar syndrome and postnatal embolization of the aberrant vessel was performed. Type II dysplasia: One case of normal lung with abnormal systemic feeding artery was diagnosed with normal neonatal outcome. Type III dysplasia: Abnormal lung with abnormal vascularity was found in 14 cases, presenting in most cases as echogenic lung masses. Seven were supradiaphragmatic, six subdiaphragmatic and one case was of undetermined position. All 14 fetuses showed an aberrant systemic artery emerging from the aorta. Abnormal venous drainage could be identified in only five (36%) of the fetuses: three had prominent azygos vein, one showed drainage to the inferior vena cava and one had multiple intrapulmonary veins forming a huge arteriovenous (A-V) shunt. Two cases in this group underwent TOP, the case with A-V shunt following development of hydrops, and one on maternal request. The remaining 12 fetuses (86%) survived and were alive and well at the time of writing; only one of them needed immediate postnatal embolization of the bilateral aberrant feeding arteries. Type IV dysplasia: Abnormal lung with no vascular abnormality was diagnosed in 20 fetuses. In this group there was one case of intrauterine fetal death, two patients underwent TOP, one complicated with hydrops and one on maternal request. The survival rate in this group was 85%. Only two cases needed immediate surgical repair. Type V miscellaneous dysplasia: One fetus demonstrated echogenic lung with split notochord syndrome and survived. CONCLUSIONS: Congenital bronchopulmonary and related vascular anomalies can be categorized using the new classification system. This new approach enabled prenatal evaluation of each lung component and facilitated cogent management of the fetus with congenital lung dysplasia.

Tailored management of twin reversed arterial perfusion (TRAP) sequence.

OBJECTIVE: To describe our management of pregnancies complicated by twin reversed arterial perfusion (TRAP) sequence. METHODS: This was a retrospective study involving all cases of TRAP sequence referred to our fetal medicine unit in a 3-year period (2000-2002). Patients were routinely managed by repeat sonographic surveillance with sonographic anatomical evaluation and detailed echocardiography. Cases with signs of impending cardiac failure were treated by in-utero YAG-laser coagulation of the umbilical vessels of the acardiac twin. RESULTS: Six cases were studied. Three patients in whom there were no signs of deterioration in the status of the pump twin, and in whom the acardiac twin was smaller than the pump twin, were managed conservatively. However, one of these with monoamniotic twins ended in intrauterine fetal death of the pump twin. The other two cases presented with spontaneous cessation of blood flow in the umbilical artery of the acardiac twin. Both delivered at term normal neonates whose follow-up revealed no signs of neurological sequelae. One case of quadruplet pregnancy (with TRAP sequence and two dichorionic twins) was treated by selective termination of the monochorionic twins. Two cases with signs of impending cardiac failure were treated by in-utero YAG-laser occlusion of the vessels in the acardiac mass. Both interventions had a favorable outcome. CONCLUSIONS: Conservative treatment is suitable for milder cases of TRAP sequence in which the pump twin is the larger one. Cases in which the acardiac twin is larger have a poorer prognosis and should be treated by invasive intervention and cord occlusion.

The progestative effect of the levonorgestrel-releasing intrauterine system--when does it manifest?

The objective of the study was to evaluate, clinically and sonographically, the time required for the progestative effect of the levonorgestrel-releasing intrauterine system (IUS, Mirena) to be manifested. Doppler flow of the cervical branch and spiral artery of the uterine artery, as well as the endometrial width (up to day 10 of the cycle), were evaluated in 36 women carrying levonorgestrel-releasing IUS 1-2 months after insertion of the device compared to 4-6 months after insertion. The rate of intermenstrual bleeding was reduced from 44% during the first 2 months, to only 8% of women after 4-6 months of use. Complete cessation of menstrual bleeding occurred in 5% after 2 months and in 66% after 4-6 months following insertion. While there was no change in the Doppler flow in the cervical branch of the uterine artery between both groups, there was a significant reduction in the subendometrial flow in the spiral artery. This observation was reinforced by the demonstration of significant reduction in endometrial thickness in the following 4 months of use. The present study has demonstrated that the local progestative effect of the levonorgestrel-releasing IUS on the endometrium is already manifested within a period of 3 months and over after insertion.

In-utero development of the fetal colon and rectum: sonographic evaluation.

OBJECTIVE: To construct a normal range for the internal diameter of the fetal descending colon and rectum during gestation. SUBJECTS AND METHODS: This was a prospective, cross-sectional study including 379 healthy pregnant women with normal singleton pregnancies at 19-40 weeks of gestation. Measurements of the fetal descending colon (maximum internal diameter) and the fetal rectum (at the level of the bladder, measuring the anteroposterior diameter), were performed by high-resolution transabdominal sonography. RESULTS: Adequate bowel measurements were obtained in all 379 fetuses. The diameter of the descending colon and rectum plotted as a function of gestational age had a sigmoid curve; the curve estimation was expressed by a cubic regression equation with R(2) of 0.848 and 0.831, respectively (P < 0.0001). The normal mean and the 95% prediction limits were defined. CONCLUSION: The present data provide a normal range of fetal bowel (descending colon and rectum) diameters from the early second trimester of pregnancy onwards. They may allow intrauterine assessment of the development of the fetal colon and may serve as reference values in the detection of anomalies of the fetal bowel.

The local progestational effect of the levonorgestrel-releasing intrauterine system: a sonographic and Doppler flow study.

BACKGROUND: We aimed to evaluate the effect of the levonorgestrel-releasing intrauterine system (LNG-IUS) on the uterine vasculature and the endometrium. METHODS: The study was a prospective controlled study evaluating the local effects of LNG-IUS compared with the copper intrauterine device (IUD). Forty-seven women carrying LNG-IUS (group A) were compared with 35 women carrying copper IUD in a control group (group B). Clinical measures of menstrual bleeding, endometrial thickness and Doppler flow of the cervical branch of the uterine artery and spiral artery were evaluated and compared between the two groups. RESULTS: Doppler flow in the cervical branch of the uterine artery did not reveal any changes between the groups (resistance index = 0.6 +/- 0.01 in both groups). Endometrial width was significantly thinner in group A (4.1 +/- 0.2 mm) compared with group B (7.3 +/- 0.2 mm) (P < 0.0001). Subendometrial flow in the spiral artery was significantly reduced in 35 women of group A (75%) and in none of group B (P < 0.0001). CONCLUSIONS: The present study offers an explanation for the oligomenorrhoea in LNG-IUS users, i.e. a local progestational effect on the endometrium with no change in the blood flow in the uterine artery. This should be presented to the women in the pre-contraceptive counselling in order to lessen the discontinuation rate.

The development of the fetal vermis: an in-utero sonographic evaluation.

OBJECTIVE: To establish a nomogram for fetal vermis measurements during gestation. METHODS: A prospective cross-sectional study of normal singleton pregnancies. Measurements of the fetal vermis width (in the axial plane) and height (in the sagittal plane) were performed by high-resolution transabdominal ultrasonography between 18 and 38 weeks of gestation in 256 fetuses. RESULTS: Adequate vermis measurements were obtained in 256 fetuses. Vermian width and height as a function of gestational age and biparietal diameter were expressed by regression equations and the correlation coefficients were found to be highly statistically significant (P < 0.0001). The normal mean (+/- SD) for each gestational week was defined. CONCLUSIONS: The present data offer the normal range of the vermian measurements throughout gestation. These values may allow intrauterine assessment of the development of the cerebellar vermis, as well as the posterior fossa.

Sonohysterography for the diagnosis of residual trophoblastic tissue.

OBJECTIVE: To assess the efficacy, safety, and associated complications of sonohysterography for the diagnosis of residual trophoblastic tissue. METHODS: We conducted a prospective study of 23 consecutive patients admitted to our ultrasonography unit with clinical and ultrasonographic signs of retained intrauterine tissue. RESULTS: Twelve patients had hydrosonographic features suggestive of residual trophoblastic tissue (i.e., an intrauterine lesion not detachable from the uterine wall after instillation of saline), whereas in 11 cases the hydrosonographic findings were negative for retained tissue. Blood flow was detected within abnormal intrauterine masses in 4 of 12 patients with trophoblastic tissue, whereas it was not detected in any patient without retained tissue (P = .093). No complications were encountered during the procedure or the postprocedure period. None of the patients had anesthetic complications, perforation of the uterus, fluid overload, or any other surgical complication. All 12 patients underwent hysteroscopic removal of the suspected residual trophoblastic tissue, and histologic confirmation of residual trophoblastic tissue was obtained in all cases. CONCLUSIONS: Sonohysterography for detection and diagnosis of residual trophoblastic tissue is an accurate and safe procedure. Further studies comparing the efficacy of sonohysterography with that of diagnostic hysteroscopy are warranted.

A comparative study of multifetal pregnancy reduction from triplets to twins in the first versus early second trimesters after detailed fetal screening.

OBJECTIVES: To compare the outcome of multifetal pregnancy reduction from triplets to twins performed either early (at 11-12 weeks' gestation) or late (at 13-14 weeks). METHODS: Ninety-five high-order pregnancies following assisted conception were studied. Transabdominal sonographically guided multifetal pregnancy reduction was performed early in 46 women, while 49 women first underwent a sonographic fetal anomaly scan before undergoing selective reduction. RESULTS: Sonographic screening led to selective termination of a specific fetus in nine cases due to increased nuchal translucency and relative intrauterine growth restriction in three cases each, and meningomyelocele, abdominal cyst and cystic hygroma in one case each. In the early reduction group a diagnosis of hypoplastic left heart in the two remaining twins was subsequently made, and one pair of twins suffers from cerebral palsy. The rate of pregnancy loss was not statistically different between the early (4.3%; 2/46) and late (4.0%; 2/49) termination groups. The birth weight and gestational age at birth were not statistically different between the early ( n = 85) and late ( n = 94) groups (2110 +/- 580 vs. 2140 +/- 490 g, and 35.8 +/- 3.0 vs. 35.7 +/- 3.5 weeks). Similarly there was no statistically significant difference between early and late groups in the incidence of very premature (24-32 weeks; 9.3 vs. 8.3%) and premature (33-36 weeks; 46.5 vs. 47.9%) births. CONCLUSIONS: Early second-trimester multifetal pregnancy reduction from triplets to twins may allow more selective termination of abnormal fetuses without an adverse effect on the outcome of pregnancy. However, further studies are needed in order to confirm our observations in a larger series.

Management of a triplet pregnancy with two anencephalic fetuses and polyhydramnios.

The occurrence of a triplet pregnancy discordant for anencephaly is rare and its management presents a clinical dilemma. We report what appears to be the first case of a triplet pregnancy with two anencephalic fetuses complicated by premature contractions and severe polyhydramnios. Its management, which results a healthy newborn weighing 1385 g is discussed.