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. RESULTS: Postnatal imaging revealed a major cerebral abnormality in 9 (6.9%) of 130 live borns with isolated mild ventriculomegaly on prenatal ultrasound. In six (66.7%) of nine cases, the abnormality was known or suspected prenatally on fetal MRI. Multivariate analysis showed that the only significant contribution to the prediction of major cerebral abnormalities was provided by persistence or progression of ventricular enlargement on serial ultrasound examinations (p = 0.001, odds ratio 21.1 [95% confidence interval: 3.6-122.7]). CONCLUSION: Prenatal ultrasound follow-up identifies fetuses at higher risk for a major cerebral abnormality among cases with isolated mild ventriculomegaly. In cases with persistent or progressive enlargement, fetal MRI and postnatal imaging seem appropriate.

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. We report here the approach to a patient with RTS whose pregnancy was complicated by multiple congenital anomalies. However, in the presence of the broad thumb and facial anomalies, we were able to suggest the correct diagnosis. The RTS was confirmed at birth and the molecular analysis of the major causative gene revealed a previously unreported heterozygous truncating mutation of CREBBP. This report provides new knowledge of the fetal phenotype of RTS.

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. Furthermore, prejudices still exist among professionals and the general population concerning the relationship between this sex chromosome aneuploidy and aggressive and antisocial behaviours. METHODS: We report on the clinical follow-up of children diagnosed prenatally with a 47,XYY karyotype, whose parents received multidisciplinary counselling and support at time of diagnosis. The specific focus of our study is on auxology, facial features, developmental milestones, behaviour, detection of aggressiveness as well as the evaluation of parental attitudes toward prenatal counselling. Clinical evaluations including auxological measurements and dysmorphological descriptions were as conducted on 13 boys aged 9 month -7 years. The Child Behavior Check List test specific for age and a 15 item questionnaire were administered to both parents. An update of ongoing problems was carried out by means of a telephone interview two years later. RESULTS: Our results show that, from birth, weight, height and head circumference were above average values while some facial features such mild hypertelorism are overrepresented when compared to parents' facial features. Language delay was detected in 8 out of 11 children older than 20 months. Parental attitudes were found to be favourable toward prenatal diagnoses of sexual chromosome aneuploidies. CONCLUSIONS: Our data, although limited, is similar to other observational studies, and serves to alert clinicians about opportunities to delineate new and appropriate educational interventions that target the specific learning challenges of XYY boys. Our experience better defines the early manifestation of XYY and should aid those involved in prenatal counselling and paediatric surveillance.

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. RESULTS: One hundred fifteen exposed and 230 unexposed women were selected. Baseline characteristics did not differ between the study groups apart from maternal body mass index, which is mildly higher in the CPM group (+0.6 kg/m(2), p = 0.047), and maternal age, which is higher in women with type III CPM (39.7 ± 2.6 vs 37.1 ± 3.2 years, p = 0.005). A higher frequency of gestational hypertension was observed in exposed women (10% vs 2%) (p = 0.003). Small for gestational age newborns were more frequent in women with type I CPM (15% vs 5%, p = 0.03). The incidence of other main complications of pregnancy (stillbirth, prematurity, preeclampsia and gestational diabetes mellitus) was similar. Neonatal complications and subsequent infant health and development did not also differ. CONCLUSION: Women with the diagnosis of CPM at CVS can be generally reassured regarding the course of pregnancy and infant health and development.

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). Amniocentesis was performed separately for both twins before termination and showed an homogeneous monosomy X in one sample and a 46,X,del(X)(p11.1) karyotype in the other one. Postmortem fetal tissues culture confirmed the discordant karyotype between the two embryos. Placental samples obtained after termination revealed the cell line which was not detected at chorionic villus sampling. Based on this and previous reports, we suggest that in cases of a phenotypic discordance detected at ultrasound in the first trimester, it is advisable to perform a karyotype analysis on amniocytes because it better reflects fetal constitution rather than chorionic villi or lymphocytes in case of heterokaryotipic monosomy X monochorionic twins.