Prenatal Diagnosis and Neurodevelopmental Outcome in Isolated Cerebellar Hypoplasia of Suspected Hemorrhagic Etiology: a Retrospective Cohort Study.

Data about the neurological prognosis of isolated cerebellar hypoplasia in utero are scant and inconsistent. In this monocentric retrospective study, we describe the neurodevelopmental outcomes in a series of children with isolated cerebellar hypoplasia of presumably hemorrhagic origin prenatally detected with fetal magnetic resonance imaging (fMRI). We retrospectively reviewed the charts of all the pregnant women who were referred for a neurological consultation, diagnosed with fetal encephalic malformation/disruption between 2010 and 2020 in the Fetal Therapy Unit of our institution. Fetal MRI (fMRI) was performed in all the pregnancies. Fetuses with cerebellar hypoplasia presumably of hemorrhagic origin were selected for the study. Fetuses exposed to alcohol or with additional malformations in other cerebral or body areas were excluded. All the infants received the postpartum follow-up care adopted in our center, including post-natal MRI, serial neurological examinations, standardized neurodevelopmental tests, and regular parental interviews. Cognitive functions were tested with GRIFFITHS II, WPPSI-III, and WISC-IV according to the child's age. A total of 14 pregnant women out of 479 fetal consultations were eligible and included in the study group. In 57% of cases, the etiology of the hemorrhage was unknown. In 21% of cases, it was attributed to a blood transfusion, while in the remaining ones, it was attributed to maternal predisposing factors. Among the survivors, two infants were excluded for prematurity, and two were lost to follow-up. Ten patients were thus included in the study. Six patients had normal neurodevelopment and cognition, and three presented mild-moderate neurological signs, i.e., mild dyspraxia and visuoperceptual impairment. Only one child had a severe outcome, i.e., autism spectrum disorder. The cerebellum is particularly vulnerable to disruptions throughout its prolonged development. Extreme caution must be used in prenatal counseling considering that in the acute phase, lesion extension and vermis involvement can be overestimated with fMRI. In cases of uncertainty, performing an additional fMRI could be advisable after 4-8 weeks. However, in our series, infants with isolated cerebellar hypoplasia tended to have a favorable prognosis. Nevertheless, a long-term follow-up is needed and should include a postnatal brain MRI, serial neurological examinations, and neurodevelopmental tests at least up to school age.

Right ventricular outflow tract abnormalities in monochorionic twin pregnancies without twin-to-twin transfusion syndrome: Prenatal course and postnatal long-term outcomes.

OBJECTIVES: Right ventricular outflow tract abnormalities (RVOTA) have been mostly reported in recipient twins (RT) of monochorionic/diamniotic (MC/DA) twin pregnancies with twin-to-twin transfusion syndrome (TTTS). Aim of the study was to describe RVOTA detected in MC/DA pregnancies without TTTS. METHODS: Cases of RVOTA were retrieved from our database among all MC/DA pregnancies without TTTS from 2009 to 2018. RESULTS: Out of 891 MC/DA twin pregnancies without TTTS, 14 (1.6%) were associated with RVOTA: 10 pulmonary stenosis (PS), one steno-insufficiency, one insufficiency and two atresia (PA). In 93% of cases (13/14), pregnancy was complicated either by amniotic fluid discrepancy (AFD) or by TAPS or mostly by selective fetal growth restriction (sFGR) (11/13: 85%), involving predominantly (10/11: 91%) the large twin, with high incidence (9/11: 82%) of sFGR and AFD coexistence. Eight out of 14 (57%) survived after the perinatal period (7 PS, 1 PA). Five (62%) underwent pulmonary balloon valvuloplasty, whereas 3 children still showed persistent mild PS at cardiac follow up after 1 year of life. CONCLUSIONS: RVOTA can occur in MC/DA pregnancies without TTTS, particularly when other complications coexist. In complicated cases specialized fetal echocardiographic evaluation is recommended during pregnancy; RVOTA cases should be delivered in a tertiary level center, where cardiologists are available.

Intrauterine fetal MR versus postmortem MR imaging after therapeutic termination of pregnancy: evaluation of the concordance in the detection of brain abnormalities at early gestational stage.

BACKGROUND AND PURPOSE: Fetal postmortem MR Imaging (pmMRI) has been recently used as an adjuvant tool to conventional brain autopsy after termination of pregnancy (TOP). Our purpose was to compare the diagnostic performance of intrauterine MRI (iuMRI) and pmMRI in the detection of brain anomalies in fetuses at early gestational age (GA). MATERIAL AND METHODS: We retrospectively collected 53 fetuses who had undergone iuMRI and pmMRI for suspected brain anomalies. Two pediatric neuroradiologists reviewed iuMRI and pmMRI examinations separately and then together. We used Cohen's K to assess the agreement between pmMRI and iuMRI. Using the combined evaluation iuMRI+pMRI as the reference standard, we calculated the "correctness ratio." We used Somers' D to assess the cograduation between postmortem image quality and time elapsed after fetus expulsion. RESULTS: Our data showed high agreement between iuMRI and pmMRI considering all the categories together, for both observers (K1 0.84; K2 0.86). The correctness ratio of iuMRI and pmMRI was 79% and 45% respectively. The major disagreements between iuMRI and pmMRI were related to postmortem changes as the collapse of liquoral structures and distorting phenomena. We also found a significant cograduation between the time elapsed from expulsion and pmMRI contrast resolution and distortive phenomena (both p < 0.001). CONCLUSIONS: Our study demonstrates an overall high concordance between iuMRI and pmMRI in detecting fetal brain abnormalities at early GA. Nevertheless, for the correct interpretation of pmMRI, the revision of fetal examination seems to be crucial, in particular when time elapsed from expulsion is longer than 24 h. KEY POINTS: • IuMRI and pmMRI showed overall high concordance in detecting fetal brain abnormalities at early GA. • PmMRI corroborated the antemortem diagnosis and it could be a valid alternative to conventional brain autopsy, only when the latter cannot be performed. • Some caution should be taken in interpreting pmMR images when performed after 24 h from fetal death.

Prenatal MRI of neck masses with special focus on the evaluation of foetal airway.

BACKGROUND: Prenatal magnetic resonance imaging is the best tool to visualize foetal airway. OBJECTIVE: To evaluate the performance of MRI in the assessment of foetal airway status in the presence of a neck mass. MATERIALS AND METHODS: Two paediatric radiologists with 12- and 2-year experience in foetal imaging retrospectively analysed 23 foetal MRI examinations, performed between 2001 and 2016, after a second-level ultrasound suspicious for presence of a neck mass. Postnatal imaging, postoperative report, histology, autopsy, and clinical outcomes were the reference standard to calculate sensitivity, specificity, accuracy, positive predictive value (PPV), and negative predictive value (NPV) of prenatal MRI in detecting airway patency. We used the Cohen к statistics to estimate the interobserver agreement. We also assessed MRI performance in the diagnosis of the mass nature. RESULTS: We obtained data about postnatal airway status in 19 of 23 patients; prenatal MRI demonstrated a sensitivity of 9/9 [100%, 95% confidence interval (CI) 66-100%], specificity 8/10 (80%, 44-98%), accuracy 17/19 (89%, 67-99%), PPV 9/11 (82%, 48-98%), and NPV 8/8 (100%, 63-100%); the interobserver agreement was perfect. Prenatal MRI correctly identified 21 of 23 masses (к = 0.858); the interobserver agreement was almost perfect (к = 0.851). CONCLUSION: Prenatal MRI demonstrated high accuracy in assessing foetal airway status and diagnosing mass nature, allowing proper delivery planning.

Brain-injured Survivors of Monochorionic Twin Pregnancies Complicated by Single Intrauterine Death: MR Findings in a Multicenter Study.

Purpose To describe and classify the range of brain injuries present at prenatal, in-utero magnetic resonance (MR) imaging in co-twin survivors of monochorionic (MC) twin pregnancies complicated by single intrauterine death (SIUD). Materials and Methods This retrospective, observational study from six tertiary fetal medicine centers that perform tertiary-level prenatal in-utero MR studies reviewed cases in which prenatal in-utero MR imaging had shown a brain injury in a surviving co-twin of a twin pregnancy with a MC component complicated by SIUD. Results Forty-two surviving MC twins were described. The primary distinction of brain abnormalities was into nonfocal and focal lesions. The nonfocal lesions included periventricular leukomalacia (group 1; two fetuses), generalized encephalomalacia (group 2; nine fetuses), posterior encephalomalacia (group 3; seven fetuses), and bilateral parasagittal and perisylvian injury (group 4; three fetuses). The focal lesions included nonhemorrhagic lesions (group 5; 14 fetuses) and hemorrhagic lesions (group 6; seven fetuses). Focal brain lesions were more likely to be found in the surviving MC pregnancies complicated by twin-twin transfusion syndrome (TTTS) (odds ratio, 2.4; 95% confidence interval: 1.3, 18.5; P = .01) and in fetuses that underwent an obstetric intervention (odds ratio, 2.8; 95% confidence interval: 1.8, 23.6; P = .006). Conclusion Brain injury of the surviving co-twin after SIUD in MC pregnancies is usually of ischemic origin and spares the brainstem and cerebellum. Focal brain lesions are more frequent in pregnancies complicated by TTTS or in those where an intervention has been performed.

Risk of congenital disease in 46 infected fetuses according to gestational age of primary human cytomegalovirus infection in the mother.

Given the difficulty in establishing the exact time of HCMV transmission from mother to fetus, HCMV intrauterine infection was investigated in 46 infected fetuses/newborns by correlating maternal and fetal parameters with clinical outcome according to the time interval between the onset of maternal infection and prenatal diagnosis. In detail, 17/28 (60.7%) asymptomatic and 18/18 (100%) symptomatic fetuses/newborns were infected as a consequence of a primary maternal HCMV infection acquired ≤8 weeks of gestational age, while 11/28 (39.3%) asymptomatic and 0/18 (0%) symptomatic fetuses/newborns were congenitally infected when maternal infection was acquired >8 weeks' gestation. Symptomatic fetal infections appeared to be associated with a maternal primary infection occurring at ≤ 8 weeks' gestation. Cordocentesis performed at 20 weeks' gestation should be restricted to high risk infected fetuses.

Prenatal detection of 5q14.3 duplication including MEF2C and brain phenotype.

The 5q14.3 duplication is a rare condition comprising speech and developmental delay, microcephaly, and mild ventriculomegaly. The region 5q14.3 contains several genes but the predominant role for the onset of the neurodevelopmental phenotype has been attributed to MEF2C. We describe the prenatal identification of 5q14.3 duplication, including MEF2C, in a monochorionic twin pregnancy with corpus callosum anomalies, confirmed by autopsy. To the best of our knowledge, this cerebral finding has been observed for the first time in 5q14.3 duplication patients, possibly widening the neurological picture of this scarcely known syndrome. A pathogenetic role of MEF2C overexpression in brain development may be assumed, but further studies are needed.

Neurodevelopmental outcome at 2 years in twin-twin transfusion syndrome survivors randomized for the Solomon trial.

BACKGROUND: The preferred treatment for twin-twin transfusion syndrome is fetoscopic laser coagulation of inter-twin vascular anastomoses on the monochorionic placenta. Severe postoperative complications can occur when inter-twin vascular anastomoses remain patent including twin-anemia polycythemia sequence or recurrent twin-twin transfusion syndrome. To minimize the occurrence of residual anastomoses, a modified laser surgery technique, the Solomon technique, was developed in which the entire vascular equator is coagulated. In the Solomon randomized controlled trial (NTR1245), the Solomon technique was associated with a significant reduction in twin-anemia polycythemia sequence and recurrence of twin-twin transfusion syndrome when compared with the standard laser surgery technique. Although a significant improvement in perinatal outcome was shown after the Solomon technique, the clinical importance should also be ascertained with long-term follow-up evaluation of the surviving children. OBJECTIVE: The purpose of this study was to compare the long-term neurodevelopmental outcome in surviving children with twin-twin transfusion syndrome who were included in the Solomon randomized trial and treated with either the Solomon technique or standard laser surgery technique. STUDY DESIGN: Routine standardized follow-up evaluation in survivors, at least 2 years after the estimated date of delivery, was performed at 2 of the 5 centers that participated in the Solomon trial: Buzzi Hospital Milan (Italy) and Leiden University Medical Center (The Netherlands). The primary outcome of this follow-up study was survival without long-term neurodevelopmental impairment at age 2 years. Neurodevelopmental impairment was defined as cerebral palsy, cognitive and/or motor development score of <85, bilateral blindness, or deafness. Cognitive and motor development was evaluated with the use of Bayley-III. All analyses per fetus, neonate, or child were conducted with the generalized estimated equation module to account for the effect that observations between co-twins are not independent. RESULTS: The primary outcome (survival without neurodevelopmental impairment) was detected in 95 of 141 cases (67%) in the Solomon group and in 99 of 146 cases (68%) in the standard group (P = .92). Neurodevelopmental impairment in long-term survivors who were included for follow-up evaluation was detected in 12 of 107 cases (11%) in the Solomon and in 10 of 109 cases (9%) in the standard group (P = .61). Neurodevelopmental impairment was due to cerebral palsy in 1 case (1%; spastic unilateral) in the Solomon group and in 2 cases (2%; spastic unilateral and spastic bilateral) in the standard group (P = .58). Cognitive development <85 cases was detected in 2 of 105 children (2%) in the Solomon group and in 6 of 106 children (6%) in the standard group (P = .23). Motor development <85 occurred in 8 of 103 children (8%) in the Solomon group and 3 of 104 children (3%) in the standard group (P = .23). CONCLUSION: We found no difference in survival without neurodevelopmental impairment between the Solomon and standard laser techniques. In view of the reduction of short-term complications and the absence of increased adverse long-term effects, these data support the use of the Solomon technique in the treatment of twin-twin transfusion syndrome.

Expanding the spectrum of human ganglionic eminence region anomalies on fetal magnetic resonance imaging.

INTRODUCTION: Ganglionic eminence (GE) is a transient fetal brain structure that harvests a significant amount of precursors of cortical GABA-ergic interneurons. Prenatal magnetic resonance (MR) imaging features of GE anomalies (i.e., cavitations) have already been reported associated with severe micro-lissencephaly. The purpose of this report was to illustrate the MR imaging features of GE anomalies in conditions other than severe micro-lissencephalies. METHODS: Among all the fetuses submitted to prenatal MR imaging at our center from 2005 to 2014, we collected eight cases with GE anomalies and only limited associated brain anomalies. The median gestational age at the time of MR imaging was 21 weeks ranging from 19 to 29 weeks. Two senior pediatric neuroradiologists categorized the anomalies of the GE region in two groups: group one showing cavitation in the GE region and group two showing enlarged GE region. For each fetal case, associated cranial anomalies were also reported. RESULTS: Five out of the eight cases were included in group one and three in group two. Besides the GE region abnormality, all eight cases had additional intracranial anomalies, such as mild partial callosal agenesis, vermian hypoplasia and rotation, cerebellar hypoplasia, ventriculomegaly, enlarged subarachnoid spaces, molar tooth malformation. Ultrasound generally detected most of the associated intracranial anomalies, prompting the MR investigation; on the contrary in none of the cases, GE anomalies had been detected by ultrasound. CONCLUSIONS: Our observation expands the spectrum of human GE anomalies, demonstrating that these may take place also without associated severe micro-lissencephalies.

Diagnostic and prognostic value of molecular and serological investigation of human parvovirus B19 infection during pregnancy.

To define diagnostic and prognostic markers of parvovirus B19 (B19V) fetal infection, two groups were investigated: 1) pregnant women with specific symptoms or contacts with symptomatic households (n=37); 2) mothers with pathological ultrasound findings and the relevant fetus at the time of prenatal diagnosis (n=16). In the first group, diagnosis of B19V infection was achieved using IgM detection in 29/37 (78.3%) of patients, while B19V DNA was detected in 36/37 (97.3%) of infected women. In the second group, intrauterine infection was investigated by amniocentesis (n=5), cordocentesis (n=3) or both (n=5). Median B19V DNA load in amniotic fluid was 8.2x107 copies/ml and in fetal blood was 2x109 copies/ml. Maternal blood was positive for B19V DNA (median 3.8x104 copies/ml) in 14/16 (87.5%) women examined. At time of fetal US investigation, all mothers were B19V IgG positive and B19V IgM were detected in 10/16 (62.5%), while fetal B19V IgG and IgM were detected in 1/8 (12.5%) and 5/8 (62.5%), respectively. Phylogenetic analysis revealed that all B19V maternal and fetal strains belonged to genotype 1A. Diagnosis of maternal, fetal and neonatal B19V infection should be based on both IgM and DNA detection. Prognostic markers of congenital B19V infection need to be defined.

Prenatal magnetic resonance imaging detection of temporal lobes and hippocampal anomalies in hypochondroplasia.

Hypochondroplasia (HCH) is a genetic skeletal dysplasia, inherited in an autosomal dominant fashion. About 50-70% of HCH patients have a mutation in FGFR3 gene and in the majority of cases it is a de novo mutation. Recent magnetic resonance imaging studies on relative large cohorts of HCH patients have showed a central nervous system involvement with a high incidence of characteristic temporal lobe and hippocampal abnormalities. To the best of our knowledge, this report shows the first magnetic resonance imaging prenatal detection of characteristic brain anomalies in a case of HCH, molecularly confirmed through postnatal FGFR3 analysis.

Congenital Cytomegalovirus Infection With Isolated "Minor" Lesions at Fetal Magnetic Resonance Imaging: Long-Term Neurological Outcome.

BACKGROUND: The prognostic relevance of fetal/early postnatal magnetic resonance (MR) imaging (MRI) isolated "minor" lesions in congenital cytomegalovirus (CMV) infection is still unclear, because of the heterogeneity of previously reported case series. The aim of this study was to report the imaging and long-term clinical follow-up data on a relatively large cohort of infected fetuses. METHODS: Among 140 CMV-infected fetuses from a single-center 12-year-long fetal MRI database, cases that showed isolated "minor" lesions at MRI, mainly represented by polar temporal lesions, were selected. MRI features were described, and clinical follow-up information was collected through consultation of medical records and telephone interview to establish the auditory and neurological outcome of each patient. RESULTS: Thirty-six cases were included in the study. The frequency of "minor" lesions increased progressively with ongoing gestational age in cases who underwent serial MR examination; 31% of cases were symptomatic at birth for unilateral altered auditory brainstem response. At long-term clinical follow-up, performed in 35 patients at a mean age of 64.5 months (range: 25 to 138), 43% of patients were asymptomatic and 57% presented with mild/moderate disability including hearing loss (34%), unilateral in all cases but one (therefore classified as severe), and/or minor cognitive and behavioral disorders (49%). CONCLUSIONS: Descriptive analysis of the type and modality of occurrence of "minor" lesions suggests performing serial fetal/postnatal MR examinations not to miss later-onset lesions. Follow-up data from the present cohort, combined with maternal/fetal factors and serologic-laboratory parameters may contribute to improve prenatal and neonatal period counselling skills.

Early formative stage of human focal cortical gyration anomalies: fetal MRI.

OBJECTIVE: Limited information is available about the development of focal cortical gyration anomalies in the human brain. Using prenatal MRI, we characterized focal cortical gyration anomalies at an early formative stage and sought clues about the mechanisms of their development. MATERIALS AND METHODS: From a large prenatal MRI database, 30 cases (gestational age, ≤ 24 weeks) with reported focal distortion of the cortical rim profile were selected. Eight cases were matched with histologic examinations; another seven had prenatal MRI, MRI autopsy, or postnatal MRI follow-up; and 15 had no follow-up but did present analogous abnormal cortical features. Focal cortical gyration anomalies were detectable when the brain was still smooth (i.e., physiological lissencephaly). RESULTS: Four patterns of cortical plate anomaly were identified: wartlike (11 cases), abnormal invaginating sulcus (11 cases), sawtooth (six cases), and single or multiple bumps (two cases). A thinned or blurred subplate and intermediate zone in the focal cortical gyration anomaly site was detected in 80% of cases. All but two cases had other intracranial anomalies. Seven cases were classified as hypoxic-ischemic, five as genetic, and three as infective. In 15 cases, the cause could not be established. In five fetuses with further intrauterine or postnatal MRI, focal cortical gyration anomalies increased in complexity, fulfilling postnatal imaging criteria of polymicrogyria. CONCLUSION: Focal cortical gyration anomalies can be detected at the early sulcation process stage. The process leading to abnormal gyration may evolve faster than physiologic ones and seems to be related to alterations of parenchymal layering occurring before 24 weeks' gestation. Most focal cortical gyration anomalies evolve toward what is currently considered polymicrogyria.

Is fetal magnetic resonance imaging indicated when ultrasound isolated mild ventriculomegaly is present in pregnancies with no risk factors?

OBJECTIVE: Ventriculomegaly (VM) is the most common brain anomaly in prenatal ultrasound (US) diagnosis. There is a general trend to perform fetal magnetic resonance imaging (MRI) when VM is severe (greater than 15 mm) and/or it is not isolated. The role of MRI is debated when VM is borderline (between 10 and 15 mm) and isolated. Some authors have subdivided borderline VM into mild (10 to 12 mm) and moderate (>12 to 15 mm). The aim of the study was to evaluate the role of MR in the imaging protocol of fetal cases characterized by mild isolated VM and no risk factors. METHOD: As a retrospective study, 179 fetal MRI exams (mean gestational age: 26 weeks), performed for mild, isolated VM on US, were analyzed to search additional or different findings with respect to ultrasound. The potential impact of MRI results on prenatal counselling is described. RESULTS: In 49/179 cases, MRI and US results differed, but only in two of these cases did MRI studies provide clinically consistent additional information. In 130/179 cases, MRI confirmed US findings. CONCLUSION: In this extremely selected group of fetuses with isolated, mild VM and no risk factors, MRI may not be indicated in the prenatal imaging protocol.

Fetal MRI features related to the Chiari malformations.

Fetal magnetic resonance (MR) imaging may add to ultrasonography some valuable information in the assessment of Chiari malformations during their developmental stage. In Chiari type I, MR imaging role seems mainly related to research on pathophysiology issues rather than to real clinical applications. Some Chiari type II features may be better characterized in utero by MR imaging: such as the degree of downward displacement of cerebellum, possible abnormal signal changes within brain parenchyma and the type of meningocele (covered or uncovered).

Early cerebral lesions in cytomegalovirus infection: prenatal MR imaging.

PURPOSE: To assess the diagnostic and prognostic value of fetal cerebral magnetic resonance (MR) imaging of congenital cytomegalovirus (CMV) infection in comparison with that of level II ultrasonography (US). MATERIALS AND METHODS: Institutional review board approval and informed consent for fetal MR imaging and data collection were obtained. Thirty-eight fetuses with CMV infection, examined by using serial level II US, underwent fetal MR imaging (mean gestational age, 25 weeks; age range at first fetal MR examination, 20-34 weeks). The frequency of pathologic findings at US (29 cases with transabdominal examination and nine cases with both transabdominal and transvaginal examination) and MR imaging was calculated, and a comparison between techniques by considering number (paired Student t test) and type (McNemar test) of finding was made. A comparison (paired Student t test) in cases of repeated fetal (nine of 38) and/or postnatal (14 of 38) MR imaging was obtained. Diagnostic and prognostic sensitivity was calculated for both techniques. RESULTS: US and MR imaging findings were both normal in 47% of cases (18 of 38). Abnormal studies were reported in 26% (10 of 38) of US and 53% (20 of 38) of MR imaging cases. In 47% of cases (18 of 38), MR imaging provided additional information (P = .0002). MR imaging had better results than US in detecting polar temporal lesions (P = .0001), microencephaly (P = .03), and cortical anomalies (P = .06). In 44.5% of cases (four of nine), the second fetal MR examination results showed new findings (P = .05). In 79% of cases, postnatal MR imaging results confirmed prenatal findings (P = .08). MR imaging had higher sensitivity than US in detecting brain anomalies (92% vs 38%) and in predicting symptomatic infection (83% vs 33%). US and MR imaging revealed low positive predictive values (29% vs 36%). CONCLUSION: Fetal MR imaging results can show abnormalities in the fetal brain after CMV infection, even when US results are normal. The early detection of some brain abnormalities, such as microencephaly and cortical anomalies, may substantially influence the prognosis of fetal infection.

Twin-to-twin transfusion syndrome presenting at early stages: is there still a possible role for amnioreduction?

OBJECTIVE: To assess the rate of resolution or progression after first line treatment with amnioreduction and related outcome of pregnancies with twin-to-twin transfusion syndrome (TTTS) diagnosed at stages I-II. METHOD: Data on 34 monochorionic diamniotic twin pregnancies presenting with TTTS at stage I-II before 26 weeks of gestation were collected retrospectively (1999-2006). All patients underwent at least one amnioreduction. The outcome and the results of neurological follow-up of surviving twins were analysed in relation to the regression or progression of the disease after treatment. RESULTS: Fourteen cases (41%) resolved after treatment while 18 cases (53%) progressed. In two patients immediate complications occurred within one week after amnioreduction; at least one infant survived in 85.3% of cases and there was double survival in 58.8%. Double survival was significantly better in cases that regressed (85.7%) compared with those cases that progressed (44.4%). None of the surviving infants in the group of cases with regression showed major neurological abnormalities. CONCLUSION: In our study, one-third of patients with stage I-II TTTS regressed after a single amnioreduction, and pregnancies with resolution of TTTS usually had a favourable outcome.

Monochorionic diamniotic twin pregnancy complicated by discordant premature closure of ductus arteriosus.

Prenatal DA closure due to early maternal intake of high-dose paracetamol and selective serotonin reuptake inhibitors. MC twin pregnancy uncomplicated by TTTS with discordant prenatal DA closure.

Mild ventriculomegaly from fetal consultation to neurodevelopmental assessment: A single center experience and review of the literature.

OBJECTIVE: The aim of our study was to determine the outcome of fetuses with isolated mild ventriculomegaly, with prenatal imaging work-up, prenatal consultation, delivery and clinical follow-up performed in a single tertiary referring center. METHODS: Fetuses with isolated and non-progressive mild ventriculomegaly (10-15 mm) were included in the study. Inclusion criteria were as follows: singleton pregnancies, normal chromosomal analysis, normal serological evaluation of TORCH, fetal ultrasound and MRI excluding additional CNS or extra-CNS malformations. The prenatal consultation consisted in discussing the prognosis of ventriculomegaly, according to the literature. The postnatal follow-up protocol included a neuroradiological investigation (cranial ultrasound or MRI), neurological and pediatric examinations. The Griffiths Scales were used to assess the neurodevelopmental outcome. RESULTS: Thirty newborns were included in follow-up. The postnatal neuroradiological investigations confirmed the ventriculomegaly as an isolated finding in all cases except one. Nineteen children were available for formal neurodevelopmental testing. In our case series, 93.3% of the children had a favorable outcome or mild anomalies. Two children (6.6%) with mild ventriculomegaly were diagnosed as having rare genetic conditions. The Griffiths developmental quotients were normal (mean General Quotient 98.3) at the latest assessment (mean age 20.8 months) in all but one case. DISCUSSION: Most children in our case series had a favorable outcome, as described in the literature. Even though a large quantity of data is now available on ventriculomegaly, fetal consultation remains challenging and requires caution. The diagnostic work-up of pregnancies diagnosed with mild ventriculomegaly must be very meticulous and include TORCH evaluation, microarray, serial ultrasounds to exclude progression, and a fetal MRI. However, despite accurate screening, there are more complex conditions in which ventriculomegaly can be the only non-specific finding in fetal life, making postnatal follow up mandatory.