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.

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.

Premature birth: complexities and difficulties in building the mother-child relationship.

AIM: This paper aims to investigate if the dyadic interactive behaviours were influenced by parental stress and feelings both in preterm and full-term mother-child dyads. METHODS: 45 mothers (age = 35.29 ± 5.38) and fathers (age = 36.77 ± 6.89) of preterm infants (GA = 30.25 ± 2.95; BW = 1288.02 ± 488.76), and 36 mothers (age = 32.60 ± 4.56) and fathers (age = 35.54 ± 5.16) of full-term (GA = 39.88 ± 1.38; BW = 3156.39 ± 493.81) were involved. Parents filled out the Impact of Event Scale Revised (IES-R), Profile of Mood States (POMS) and Parenting Stress Index Short Form (PSI-SF) and interactive behaviours (Global Rating Scale) was videotaped after 3 months. RESULTS: Mothers of preterm children showed higher level of Intrusiveness (Mpreterm = 4.07 ± .74, Mfullterm = 4.39 ± .51, t = 2.22, p = .029) and Remoteness (Mpreterm = 4.45 ± .83, Mfullterm = 4.79 ± .34, t = 2.51, p = .015) than mothers of term children. In preterm mothers' lower levels of Sensitivity, higher levels of Intrusiveness, Remoteness and Depression are associated with the presence of negative feelings and parental stress in both parents. Moreover, higher children Distress is associated to parental negative feelings, paternal stress and post-traumatic symptoms. A higher score of parental negative feelings and parental stress predicted lower scores in Global RatingScale dimensions. CONCLUSIONS: Our results underline that preterm birth could be a risk factor for the co-construction of interactive exchanges between mother and premature baby. This study could help practitioners to better consider parental roles and to carry out specific supportive interventions for both parents and children.

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.

Neonatal suppression-burst without epileptic seizures: expanding the electroclinical phenotype of STXBP1-related, early-onset encephalopathy.

Early-onset epileptic encephalopathies (EOEEs) are characterised by epileptic seizures beginning in the first months of life, abnormal background EEG activity, and are associated with severe developmental delay and poor prognosis. Mutations and deletions in the STXBP1 gene are associated with Ohtahara syndrome, also known as "early infantile epileptic encephalopathy". We report an infant affected by EOEE with a 9q34.11 deletion that encompassed the genes STXBP1 and SPTAN1. The infant presented with neonatal encephalopathy without epileptic seizures and an EEG pattern varying from highly discontinuous to suppression-burst. This was followed by West syndrome at 2 months with atypical hypsarrhythmia and spasms, easily controlled by therapy. Our findings suggest that molecular analysis of STXBP1 should be considered for newborns affected by neonatal encephalopathy associated with a peculiar EEG pattern, even in the absence of neonatal epileptic seizures.

Prognostic value of electroencephalograms in asphyxiated newborns treated with hypothermia.

Previous studies described how early electroencephalogram patterns in neonatal hypoxic-ischemic encephalopathy seem to correlate with the severity of the clinical picture and provide prognostic information. This study evaluated whether electroencephalograms of newborns with severe perinatal hypoxic-ischemic encephalopathy, treated with hypothermia, provide information on clinical outcomes. Twenty-three newborns treated with hypothermia underwent electroencephalogram monitoring within 48 hours of age, and were enrolled in a follow-up with sequential electroencephalogram and neurologic controls (at ages 1 week, 1 month, 3-6 months, and 1 year). An inactive electroencephalogram pattern in the first 48 hours of age was associated with death or major neurologic sequelae. At age 1 week, a low-voltage, continuous pattern indicated a worse prognostic value when compared with other patterns. The persistence of electroencephalogram abnormalities at age 1 month was associated with a higher risk of neurologic sequelae. Background electroencephalogram abnormalities, detected in the first days of life after hypoxic-ischemic encephalopathy, can provide prognostic information, even in patients treated with hypothermia. After 1 month of age, the information on clinical outcomes provided by electroencephalograms usually decreases because of the natural trend toward electroencephalogram normalization.

Partial trisomy of 7q: case report and literature review.

This case describes a boy with pure partial trisomy of the long arm of chromosome 7. The only prenatal finding on the boy was cerebral ventricular enlargement. After birth, mild facial dysmorphic features and cardiac malformations (pulmonary valve dysplasia, interatrial and interventricular septal defects) were detected. The boy developed severe psychomotor retardation, failure to thrive, and poor interaction with the environment. Focal seizures occurred in the neonatal period. Left frontotemporal abnormalities were observed in the subsequent electroencephalograms. An area of subependymal nodular heterotopia in the right frontal region was detected. Eighteen cases of 7q pure trisomy have been described in the literature over the years. The present study confirms that, in 7q trisomy cases, there are several common, yet nonspecific, features: macrocephaly, frontal bossing, failure to thrive, psychomotor delay, low-set ears, short neck, and genital-urinary tract abnormalities. Shortened life span seems associated only with duplication of the entire arm, and correlation phenotype-genotype seems questionable.