Risk of 22q11.2 deletion in fetuses with right aortic arch and without intracardiac anomalies.

OBJECTIVE: To assess the risk of 22q11.2 deletion in fetuses with a prenatal diagnosis of right aortic arch without intracardiac anomalies (RAA-no ICA). METHODS: This was a retrospective study of all fetuses with RAA-no ICA diagnosed prenatally at three referral centers, between 2004 and 2014. A detailed sonographic examination was performed in each case, including visualization of the thymus and of the head and neck vessels to identify the presence of an aberrant left subclavian artery (ALSA). Karyotyping and fluorescence in situ hybridization analysis for diagnosis of 22q11.2 deletion were always offered either prenatally or postnatally. Clinical and echocardiographic examinations were performed in livebirths and a postmortem examination in cases of termination of pregnancy. RESULTS: During the study period, 85 fetuses were diagnosed prenatally with RAA-no ICA. Genetic or clinical data were not available for three cases and these were excluded from analysis. 22q11.2 deletion was found in 7/82 cases (8.5% (95% CI, 3.8-17.3%)). The thymus was small or non-visualized in all seven cases and additional abnormal sonographic findings were present in four. CONCLUSION: 22q11.2 deletion is present in a clinically significant proportion of fetuses with a prenatal diagnosis of RAA-no ICA. In such cases, a detailed sonographic examination, with assessment of the thymus in particular, may be useful to further define the level of risk for 22q11.2 deletion. Copyright © 2015 ISUOG. Published by John Wiley & Sons Ltd.

Abnormal sonographic appearance of posterior brain at 11-14 weeks and fetal outcome.

OBJECTIVE: The aim of this retrospective study was to describe the sonographic appearance of the posterior brain anatomy in normal fetuses at 11 to 14 weeks of pregnancy and to determine the fetal outcome when one of the posterior brain anatomical space is not recognized. METHODS: Two groups of patients were included in the study: a control group of consecutive 311 healthy fetuses with a normal sonogram and a study group of 21 fetuses with absence of one of the three posterior brain spaces. In each fetus, images of the mid-sagittal view of the fetal face and brain at 11 to 14 weeks of gestation were obtained. RESULTS: In all fetuses with absence of one of the three posterior brain spaces, a severe anomaly, including open spina bifida, cephalocele, Dandy-Walker complex, and chromosomal aberrations, was associated. CONCLUSION: Our study indicates that the sonographic finding characterized by the absence of one of the three posterior brain spaces seems to facilitate not only the detection of open spina bifida, as previously reported, but also of other neural tube defects, such as cephalocele, and is an important risk factor for cystic posterior brain anomalies, and/or chromosomal abnormalities. Thus it seems a poor prognostic finding for major fetal abnormalities.

Aberrant right subclavian artery (ARSA) in unselected population at first and second trimester ultrasonography.

OBJECTIVES: To evaluate the feasibility of examining aberrant right subclavian artery (ARSA) at first and second trimester gestation, its prevalence and associations in an unselected population. METHODS: Right subclavian artery (RSA) was prospectively evaluated in 6617 routine patients. When ARSA was detected, fetal echocardiography was offered and fetal karyotyping was discussed. If invasive testing was performed with normal karyotype, fluorescence in situ hybridization for 22q11.2 microdeletion and additionally, in case of nuchal translucency (NT) measurement above the 99(th) centile, oligo array-based comparative genomic hybridization, were offered. In all aneuploidies, NT and first trimester additional ultrasonographic (US) markers assessment (nasal bone, tricuspid valve, ductus venosus) were recorded. RESULTS: RSA assessment was feasible in 85.3% and 98% of first and second trimester examinations, respectively (overall feasibility 94%). There were detected 89 ARSA (1.42% of the feasible cases), of which 66 in the first trimester. More than 20% were associated to other abnormalities: 10 aneuploidies; 2 microdeletions (15q11.2 and 22q11.2); in the euploid fetuses, 8 associated abnormalities were observed, 4 of which were cardiac defects. In the case of 22q11.2 microdeletion, ARSA was associated only with increased NT. CONCLUSION: Prenatal routine US assessment of the RSA is feasible by highly experienced operators in first trimester screening. There is an important association of ARSA detected in unselected population with fetal abnormalities, including aneuploidies, cardiac defects and genetic anomalies. In trisomy 21 fetuses, ARSA can be the only first trimester US marker or, when associated to increased NT, it can represent the only 'additional' marker.

Prenatal diagnosis and outcome of fetal posterior fossa fluid collections.

OBJECTIVE: To evaluate the accuracy of fetal imaging in differentiating between diagnoses involving posterior fossa fluid collections and to investigate the postnatal outcome of affected infants. METHODS: This was a retrospective study of fetuses with posterior fossa fluid collections, carried out between 2001 and 2010 in two referral centers for prenatal diagnosis. All fetuses underwent multiplanar neurosonography. Parents were also offered fetal magnetic resonance imaging (MRI) and karyotyping. Prenatal diagnosis was compared with autopsy or postnatal MRI findings and detailed follow-up was attempted by consultation of medical records and interview with parents and pediatricians. RESULTS: During the study period, 105 fetuses were examined, at a mean gestational age of 24 (range, 17-28) weeks. Sonographic diagnoses (Blake's pouch cyst, n = 32; megacisterna magna, n = 27; Dandy-Walker malformation, n = 26; vermian hypoplasia, n = 17; cerebellar hypoplasia, n = 2; arachnoid cyst, n = 1) were accurate in 88% of the 65 cases in which confirmation was possible. MRI proved more informative than ultrasound in only 1/51 cases. Anatomic anomalies and/or chromosomal aberrations were found in 43% of cases. Blake's pouch cysts and megacisterna magna underwent spontaneous resolution in utero in one third of cases and over 90% of survivors without associated anomalies had normal developmental outcome at 1-5 years. Isolated Dandy-Walker malformation and vermian hypoplasia were associated with normal developmental outcome in only 50% of cases. CONCLUSION: Prenatal neurosonography and MRI are similarly accurate in the categorization of posterior fossa fluid collections from mid gestation. Blake's pouch cyst and megacisterna magna are risk factors for associated anomalies but when isolated have an excellent prognosis, with a high probability of intrauterine resolution and normal intellectual development in almost all cases. Conversely, Dandy-Walker malformation and vermian hypoplasia, even when they appear isolated antenatally, are associated with an abnormal outcome in half of cases.

Fetal interrupted aortic arch: 2D-4D echocardiography, associations and outcome.

OBJECTIVES: To analyze fetal two-dimensional (2D) echocardiographic characteristics of interrupted aortic arch (IAA) and its different types, to explore whether the use of 4D ultrasound with B-flow imaging and spatiotemporal image correlation (STIC) can improve prenatal diagnostic accuracy, and to describe associations and outcome. METHODS: The study comprised IAA fetuses examined exclusively by 2D conventional echocardiography during the period from 1994 to 2003, and those identified by conventional echocardiography and examined further by 4D ultrasound with B-flow imaging and STIC during the period January 2004 to July 2008, identified among fetuses examined at two referral centers for congenital heart defects (CHD). Postnatal follow-up was available in all cases. Karyotyping and fluorescent in-situ hybridization (FISH) analysis for the DiGeorge critical region (22q11.2) were performed in all cases. RESULTS: Twenty-two cases of isolated IAA (15 Type B and seven Type A, seven and three of which, respectively, underwent B-flow imaging and STIC) were detected among 2520 cases of fetal CHD. In seven of the 15 Type B cases, a right subclavian artery arose anomalously (ARSA). 2D echocardiography failed to distinguish the type of IAA in only two cases and the ARSA in five of the seven cases. B-flow imaging and STIC successfully identified IAA types in all 10 cases examined and clearly visualized the origin and course of the ARSA, including cervical ones. FISH detected 22q11.2 microdeletion in 10 of the 15 Type B cases and an unusual association with Type A in one of the seven cases. Fetal/neonatal outcome included: eight terminations of pregnancy, one intrauterine death and four postoperative deaths in the neonatal period, and nine neonates were alive after surgery at a mean follow-up time of 58 months (range, 4 months-13 years). CONCLUSION: Our results confirm the feasibility of prenatal characterization of IAA and its different types based on 2D echocardiographic examination, albeit with some limitations in the thorough assessment. 4D ultrasound with B-flow imaging and STIC can apparently facilitate visualization and detailed examination of the anatomical features of the IAA types, including visualization of the neck vessels, thus supplying additional information with respect to 2D sonography. As for the known association with microdeletion 22q11.2, our data indicate that Types A and B are distinct, there being a close association only with IAA Type B.

Disorders of prosencephalic development.

Abnormal ventral induction may result in disorders of formation, cleavage, and midline development of prosencephalic structures. Holoprosencephaly is a developmental field defect of impaired cleavage of prosencephalon. The most widely accepted classification of holoprosencephaly recognizes three major varieties: the alobar, semilobar and lobar types, according to the severity of the malformation. The brain malformations, characterized by the fusion of the cerebral hemisphere along the midline are commonly associated with facial anomalies. Corpus callosum agenesis and septo-optic dysplasia are disorders of prosencephalic midline development, and usually have less severe presentations but still, affected subjects may suffer from neurodevelopmental retardation, and/or endocrinologic and visual disorders. In this article we report an up-to-date of pathogenesis, prenatal sonographic findings, differential diagnosis and prognosis of the aforementioned anomalies.

[Subamniotic hematoma: 3D and color Doppler imaging in the differential diagnosis of placental masses and fetal outcome]. / Ematoma subamniotico: 3D e color Doppler nella diagnosi differenziale delle masse placentari e dell'outcome fetale.

The aim of this study was to evaluate the role of 3D and color Doppler (CD) imaging in prenatal diagnosis and management of placental subamniotic hematoma and to speculate about the prenatal diagnosis of the solid and cystic placental masses protruding from the fetal surface of the placenta. Five pregnancies in which a large mass was seen protruding from the fetal surface of the placenta were studied in the period between January 2006 and January 2008. 3D and color flow imaging were settled in order to monitor the sonographic features of the mass during pregnancy, to evaluate the continuity of the solid portion of the mass with the fetal placental surface and to detect the blood flow signals within the mass. This study reports the clinical outcome and the histologic findings of five cases of subamniotic hematomas detected in the course of prenatal ultrasound examinations between January 2006 and January 2008. Sonographic features of the mass protruding from the chorionic plate show a consistence typical of a solid mass, in the recent subamniotic hematoma, or a predominantly cystic mass in the chronic subamniotic hematoma. Neither adverse clinical correlations nor structural nor chromosomal fetal abnormalities were found after delivery. The joint and the continuity of the solid portion of the mass with the fetal placental surface were correctly identified by prenatal ultrasound 3D examination. The CD imaging was conclusive in order to detect the absence of blood flow within the solid part of these masses. In conclusion prenatal sonographic features in recent subamniotic hematomas include the detection of a complex structure overlying the fetal plate of the placenta next to the cord insertion, covered by a thin membrane (the amnion), containing a predominantly solid mass arising from the chorionic plate. Differential diagnosis has to be done between recent subamniotic hematoma and placental chorioangioma by the use of color flow imaging: it displays blood flow within the mass in the case of chorioangioma, and conversely demonstrates the lack of color flow signals in the hematoma. The 3D imaging is conclusive in order to identify the continuity of the solid mass with the fetal placental surface. The chronic subamniotic hematomas are predominantly cystic structures in which there is a solid component attached to the fetal surface of placenta, representing a retracted clot and/or a fibrin deposit, underlying the hematoma. The main differential diagnosis in the case of a cystic mass overlying the fetal plate of the placenta, covered by a thin membrane, during the ultrasound examination, is between a placental cyst and a large pseudocysts of the umbilical cord at the placental insertion. In the case of a pseudocyst, the transonic formation is clear and lacks of a solid mass within. The correct differential diagnosis between subamniotic hematoma and the pseudocysts of the umbilical cord is required because of the association between chromosomal anomalies and pseudocysts.

Two- and four-dimensional echocardiography with B-flow imaging and spatiotemporal image correlation in prenatal diagnosis of isolated total anomalous pulmonary venous connection.

OBJECTIVES: To explore whether the use of four dimensional (4D) ultrasound examination with B-flow imaging and spatiotemporal image correlation (STIC) can supply additional information with respect to two-dimensional (2D) gray-scale and color Doppler echocardiography in the prenatal characterization of isolated total anomalous pulmonary venous connection (TAPVC). METHODS: The study population comprised a group of three TAPVC fetuses that had been examined exclusively by conventional echocardiography, and a group of four additional cases initially identified by conventional echocardiography and examined further by 4D ultrasonography; a thorough postnatal work-up was available for all fetuses. RESULTS: At our center, isolated TAPVC was found in seven of 1040 fetuses with cardiac defects (0.67%). Anomalous drainage was supracardiac to the innominate vein in three cases, cardiac to the coronary sinus in two, and infracardiac to the portal vein in the remaining two cases. An evident asymmetry between left heart and right heart structures was observed in 4/7 cases. The confluence of the anomalous pulmonary veins (PVs) was visualized in 4/7 cases and the connecting vertical vein was identified in 3/5 cases at 2D echocardiography. 4D ultrasound imaging with B-flow imaging and STIC clearly visualized the anomalous PV confluence and the draining vertical vein in all four cases examined. CONCLUSION: 2D and color Doppler echocardiography appears to diagnose reliably TAPVC, albeit with some limitations in thorough assessment of the pathology, depending on the anatomy of the defect, on the technical adequacy of the equipment used and on the experience of the operator. 4D ultrasound examination with B-flow imaging and STIC is apparently able to facilitate identification of the anatomical features of TAPVC, thus supplying additional information over that provided by 2D fetal sonography.

Novel application of 4D sonography with B-flow imaging and spatio-temporal image correlation (STIC) in the assessment of the anatomy of pulmonary arteries in fetuses with pulmonary atresia and ventricular septal defect.

OBJECTIVES: To assess the reliability of two-dimensional gray-scale (2D) and color Doppler echocardiography in the study of the size and anatomy of the central pulmonary arteries and of the sources of pulmonary blood flow in a case series of fetuses with pulmonary atresia and ventricular septal defect (PA-VSD), and to evaluate whether the use of 4D ultrasound with B-flow imaging and spatio-temporal image correlation (STIC) can improve prenatal diagnostic accuracy. METHODS: The study population comprised a group of seven PA-VSD fetuses that had been examined by 2D and color Doppler echocardiography exclusively, and a group of five additional cases identified initially by conventional echocardiography and examined further by 4D ultrasound, for all of which a thorough postnatal or autopsy study of the size and anatomy of the pulmonary arteries and blood supply was available. RESULTS: 2D and color Doppler echocardiography failed to assess the anatomy of the central pulmonary arteries and the source of the pulmonary blood supply in 33% and 25% of the 12 cases, respectively. 4D ultrasound with B-flow imaging and STIC assessed successfully the anatomy of the pulmonary arteries and the source of pulmonary blood supply in all five fetuses examined. CONCLUSIONS: The prognosis of PA-VSD is influenced by the anatomy of the pulmonary arteries and the sources of the pulmonary blood supply, and by coexisting extracardiac and genetic anomalies. Our findings, although limited to a small sample size, suggest that 4D echocardiography with B-flow imaging and STIC, unlike 2D ultrasound, can provide thorough visualization of very small vessels and of the arterial blood supply to the lungs of fetuses with PA-VSD. 4D ultrasound may be used in the future to improve and help to detail the diagnosis of other fetal cardiac defects.

Facial nerve paralysis in temporal bone fractures: outcomes after late decompression surgery.

The aim of this paper was to address some of the unanswered questions regarding management of facial nerve paralysis in temporal bone fractures (TBF), such as the outcomes after late facial nerve decompression surgery. The study design was a retrospective review of a consecutive clinical series. Thirteen patients who underwent late decompression surgery for facial nerve paralysis due to TBF involving the perigeniculate ganglion region were analyzed. Patients were operated on 27-90 days after trauma. A transmastoid extralabyrinthine approach was used in all cases. Facial nerve-sheath slitting was performed routinely. Normal or subnormal facial nerve function (HB 1 or HB 2) was achieved in 7/9 cases (78%) evaluated at > or = 1 year after surgery. Good functional results were also obtained in two patients operated on 3 months after trauma. Bases on the outcomes observed in the present series, in patients unable to be operated on early, presenting 1 to 3 months with >95% denervation on EnoG, facial nerve decompression may have a beneficial effect.

Orbital cobalt irradiation combined with retrobulbar or systemic corticosteroids for Graves' ophthalmopathy: a comparative study.

Combined therapy with systemic corticosteroids and orbital cobalt radiotherapy has been shown to be an effective treatment of severe Graves' ophthalmopathy. The potentially serious side-effects of large doses of systemic corticosteroids prompted us to evaluate the use of retrobulbar corticosteroids instead of systemic corticosteroids. Forty-four patients with active Graves' ophthalmopathy were given orbital cobalt irradiation (total dose 2000 rads) and retrobulbar methylprednisolone acetate (14 bilateral injections at 20-30 d intervals). The degree of ocular involvement and responses to treatment were evaluated by numerical scoring (ophthalmopathy index, OI) and clinical assessment. Excellent or good responses were observed in 11 out of 44 patients (25%), 24 (55%) showed slight responses, and no change was found in 9 patients (20%). The initial OI mean score was 5.9; the final score was 3.2, with a change of -2.7 (P less than 0.001). Regression or partial improvement was observed in most cases (35/44, 80%) with soft tissue changes, and in all 9 cases with sight loss due to optic neuropathy. Proptosis, corneal lesions and extra-ocular muscle involvement were less responsive, since regression or partial improvement was observed in 39% (12/31), 50% (8/16) and 31% (13/42), respectively. No major side-effects were observed. The effects of this type of therapy and those obtained by combined therapy with systemic corticosteroids and orbital radiotherapy were compared in two groups of 30 patients each, randomly assigned to either treatment.(ABSTRACT TRUNCATED AT 250 WORDS)