No abstract

Our patient shows a pattern of anomalies resembling that observed in isotretinoin- and etretinate-exposed children. After ingestion, acitretin is partially converted into etretinate, and etretinate is partially metabolized into acitretin. A similar phenotype would therefore be expected after prenatal exposure to either drug. Moreover, in the present case, teratogenic effects were observed even though the dose was lower than in the previously reported acitretin embryopathy cases. Therefore, we propose that different retinoids, acitretin included, produce only one malformation pattern with variable phenotypic expression.

Background/Aim: Rett syndrome (RTT) is an X-linked neurodevelopmental dominant disorder that affects almost exclusively girls. The disease is mainly sporadic, caused by de novo mutations at MECP2 gene (Xq28), but a low percentage of familial cases have been reported. We present the results of RTT prenatal diagnosis in three families and discuss the usefulness of such analyses in diseases caused mainly by de novo mutations. Methods: For adult individuals, DNA was extracted from peripheral lymphocytes; for fetus analysis it was obtained from cultured amniotic fluid or from chorionic biopsy specimens. Mutation detection at MECP2 gene was first carried out in the patients by SSCP/HD analysis and subsequent sequencing. Family studies and prenatal diagnoses were done by direct analysis of previously characterized patients’ mutations using SSCP/HD or restriction analysis. Results: Heterozygous mutations identified in the 3 patients were: 1061del96bp, 473C→T, and 763C→T, respectively. Mutations were not present in the mothers’ DNAs obtained from peripheral lymphocytes. None of the 3 fetuses analyzed carried the mutation of the affected sister. Conclusions: Recurrence within RTT families can be due to asymptomatic nonpenetrant carrier mothers or to parental germinal mosaicism for the MECP2 mutation. Since germline mosaicism can neither be predicted nor detected, families with 1 affected patient whose RTT-causing mutation has been previously identified can benefit from prenatal diagnosis which contributes to a decrease in the recurrence risk in a new pregnancy comparable to that of the normal population.

Fetal growth restriction (FGR) occurs when the fetus does not reach its intrauterine potential for growth and development as a result of compromise in placental function. It is a condition that affects 5 to 10% of pregnancies and is the second most common cause of perinatal morbidity and mortality. Children born with FGR are at risk of impaired neurological and cognitive development and cardiovascular or endocrine diseases in adulthood. The purpose of the present revision is to perform a literature search for evidence on the detection and assessment by ultrasound of brain injury linked to FGR during fetal life. Using a systematic approach and quantitative evaluation as study methodology, we reviewed ultrasound studies of the fetal brain structure of growth-restricted fetuses with objective quality measures. A total of eight studies were identified. High quality studies were identified for measurement of brain volumes; corpus callosum; brain fissure depth measurements, and cavum septi pellucidi width measurement. A low-quality study was available for transverse cerebellar diameter measurement in FGR. Further prospective randomized studies are needed to understand the changes that occur in the brain of fetuses with restricted growth, as well as their correlation with the changes in cognitive development observed.