Interstitial 11q deletion: genomic characterization and neuropsychiatric follow up from early infancy to adolescence and literature review.

BACKGROUND: Interstitial deletions of chromosome 11 long arm are rarely observed and the associated phenotype ranges from normal to severe, depending on the position and size of the deletion and on the presence of unmasked recessive genes on the normal homologous. To our knowledge 32 cases are reported in literature with three family cases. Phenotype-genotype correlation is not very clear and the most common features are characteristic facial dysmorphisms, palate anomalies and developmental delay. Growth retardation is not typical and other major malformations are reported in some cases. CASE PRESENTATION: We described a child with 11q interstitial deletion diagnosed at birth with hypotonia and minor dysmorphisms using standard cytogenetic techniques; array CGH was subsequently performed to define the deletion at a molecular level. CONCLUSIONS: This case gave us the opportunity to attempt a genotype-phenotype correlation reviewing the literature and to describe a rehabilitative program that improved the development perspectives of this child.

Infants weighing <1500 g: better born too small or too soon?

OBJECTIVE: To evaluate the influence of intrauterine growth on intact neurological outcome at 12 to 24 months in a cohort of infants weighing <1500 g at birth. STUDY DESIGN: This retrospective study was conducted in the Department of Obstetrics and Gynecology, University of Milano-Bicocca, San Gerardo Hospital, Monza, Italy. Perinatal variables were correlated with occurrence of composite adverse outcome, including neonatal death or adverse neurodevelopmental outcome (ANDO), at 12 to 24 months' follow-up, in 240 consecutive very low-birth-weight (VLBW) neonates prenatally classified as growth restricted (IUGR; n = 100) or appropriate for gestational age (n = 140). RESULTS: Among the 214 surviving neonates, neurological follow-up was available in 163. ANDO was present in 46 children (28%). At multivariate analysis, only gestational age at delivery was independently related to the composite outcome (p < 0.001, odds ratio = 0.69, 95% confidence interval 0.59, 0.81), whereas diagnosis of IUGR was not. CONCLUSION: Only gestational age at delivery was significantly associated with composite adverse outcome in VLBW preterm infants.

Antenatal variables associated with severe adverse neurodevelopmental outcome among neonates born at less than 32 weeks.

OBJECTIVE: To determine the association between antenatal factors and severe adverse neurodevelopmental outcome (ANDO) in preterm infants. STUDY DESIGN: Neurodevelopmental follow-up was performed in a cohort of babies born at <32.0 weeks' gestation with birth weight <1500 grams between 1999 and 2006. Logistic regression analysis was used to relate obstetric, perinatal and neonatal ultrasonographic predictors to severe ANDO, defined as cerebral palsy or neurodevelopmental impairment, including sensory damage and adjusted development quotient <70. RESULTS: 88.6% (195/220) of surviving babies underwent follow up for a median of 24 months (range 12-96); 45 of them (23%) had ANDO, which was severe in 28 (14.3%). Abnormal ultrasonographic findings (intraventricular hemorrhage grades 3 or 4, periventricular leukomalacia, or ventriculomegaly) were observed in 18 cases (9.2%) and they were significantly associated with severe ANDO (OR 11.8 95% CI 4.0-34.0). Only gestational age at delivery (OR 0.80 95% CI 0.66-0.97), but not intrauterine infection, was independently related to severe ANDO. Infants with severe ANDO born before 28 weeks presented lower umbilical artery pH (7.24±0.1 vs 7.31±0.06, p=0.005) and a significantly higher rate of cesarean delivery (85.7% vs 50%, OR 6 95%CI 1.3-26.3, p=0.03) compared with infants without severe ANDO. CONCLUSION: Gestational age at delivery and low umbilical artery pH at less than 28 weeks, but not intrauterine infection, are independent risk factors for severe ANDO in babies with birth weight <1500g.