Prenatal ultrasound predictors of postnatal major cerebral abnormalities in fetuses with apparently isolated mild ventriculomegaly.

Objective: We aim to examine the incidence of major cerebral abnormalities on postnatal imaging in cases with isolated mild ventriculomegaly on fetal sonography and to evaluate the relationship between the presence or absence of such defects and prenatal ultrasound factors.

Methods: We searched our databases to identify all cases with mild ventriculomegaly (10-15 mm) and no other major structural abnormalities on prenatal ultrasound, with normal karyotype and no evidence of maternal or fetal infection. For each case, we retrieved data on prenatal ultrasound follow-up, fetal magnetic resonance imaging (MRI), neonatal ultrasound and/or brain MRI, and pregnancy outcome.

Unusual prenatal presentation of Rubinstein-Taybi syndrome: a case report.

Rubinstein-Taybi syndrome (RTS) is a rare multiple congenital anomalies-intellectual disability syndrome. The diagnosis is made after birth and based on the detection of signs such as growth and developmental delay, minor facial anomalies, and broad thumbs and halluces. It is rare to suspect RTS during the prenatal period.

Early manifestations in a cohort of children prenatally diagnosed with 47,XYY. Role of multidisciplinary counseling for parental guidance and prevention of aggressive behavior.

Background: An increasing number of foetuses are recognized as having double Y because of the widespread use of prenatal screening using chorionic villus sampling and amniocentesis. 47, XYY karyotype occurs in about one out of 1,000 newborn males, but it is not often detected unless it is diagnosed during prenatal testing. Despite the fact that unbiased follow-up studies demonstrate largely normal post-natal development of young men with 47, XYY, there is a scarcity of controlled studies about the neurological, cognitive and behavioural phenotype which remains the main reason for anxiety and anticipatory negative attitudes of parents.

Confined placental mosaicism at chorionic villous sampling: risk factors and pregnancy outcome.

Objective: This study aims to investigate the clinical relevance of confined placental mosaicism (CPM) detected at chorionic villous sampling (CVS) and to identify risk factors for this condition.

Method: Women diagnosed with CPM between January 2005 and December 2009 were identified. They were matched to women with unremarkable CVS in a 1 : 2 ratio by study period and contacted by phone for interview.

Discordant prenatal phenotype and karyotype of monozygotic twins characterized by the unequal distribution of two cell lines investigated by different methods: a review.

We present the case of a monozygotic twin pregnancy discordant for phenotype and karyotype. A chorionic villus sample was performed at the 11th week of gestation in a primigravida because of cystic hygroma detected by ultrasound in one twin of a monochorionic, biamniotic pregnancy. Rapid testing by means of quantitative fluorescence polymerase chain reaction and conventional karyotyping, obtained by both short- and long-term culture, revealed a homogeneous monosomy X (45,X).