Reliability of Early Fetal Echocardiography for Congenital Heart Disease Detection: A Preliminary Experience and Outcome Analysis of 102 Fetuses to Demonstrate the Value of a Clinical Flow-Chart Designed for At-Risk Pregnancy Management

Early fetal echocardiography (EFEC) is a fetal cardiac ultrasound analysis performed between the 12th and 16th week of pregnancy (compared with the usual 18-22 weeks). In the last 10 years, the introduction of “aneuploidy sonographic markers” in screening for cardiac defects has led to a shift from late second to end of the first trimester or beginning of the second trimester of pregnancy for specialist fetal echocardiography. In this prospective study, early obstetric screening was performed between January 2014 and October 2015, using “aneuploidy sonographic markers” following SIEOG Guidelines 2014. These parameters were then collected and strategically combined in an evaluation score to select the group of pregnancies for performing EFEC, in accordance with the American Society of Echocardiography guidelines for fetal Echocardiography. All second-level examinations were performed transabdominally using a 3D convex volumetric probe with frequency range of 4-8 MHz (Accuvix – Samsung). The outcome data included transabdominal fetal echocardiography from 18 weeks to term and after birth. Overall, 99 pregnant women in the first trimester underwent EFEC (95 singleton and 4 twin pregnancies). Specifically, 30 fetuses were evaluated for extra-cardiac anomalies evidenced by obstetric screening (30%), 25 for family history of congenital heart diseases (25%), 8 for family history of genetic-linked diseases (8%), 4 for heart diseases suspected by obstetric screening (4%) and 19 by normal screening (19%). Was detected 11 (10.7%) CHD, when EFEC detected CHD, were compared to those performed later in pregnancy (18 weeks GA-term), a high degree of diagnosis correspondence was evidenced. The higher sensitivity value of EFEC vs late-FE, in comparison with the post-natal value, coupled with the high EFEC specificity shown vs both the end points, enabled us to consider it as a really reliable diagnostic technology, at least in perienced hands. The introduction of a key combination of the more sensitive obstetric and cardiologic variables should facilitate the formulation of a possible flow-chart as a guide for CHD at-risk pregnancies

Parental decision following prenatal diagnosis of Klinefelter syndrome: A proposal for a correct approach

Language and speech in Cornelia de Lange syndrome (CdLS) are generally severely affected with a specifi c pattern. Only 3–4% of children will become talkers, 40% are late talkers, 25% are limited talkers and 30% are non talkers. Receptive language is usually considered more superior to expressive language but few studies consider in depth receptive components nor try to correlate them (vocabulary and morphosyntax) with cognitive development and behaviour. The aim of this study is to describe the correlations between the cognitive and communication (expressive and receptive components) profi les of a cohort of 10 CdLS patients without hearing loss. Parental decision to terminate a pregnancy for a foetus with KS is less probable if the fi rst counsellor is a geneticist, especially with expertise in children. In the literature, pregnancy termination rates for KS range from 23% to 87.5%. In our study, termination rates for KS were only 6.5% because we used an approach that reduces the anxiety of the parents. It is important to note that the follow up studies on newborns showed that intellectual disability is not a characteristic sign of KS; rather it carries the same incidence rate found in the general population. Furthermore, follow up studies show that there is a moderate but not high risk of language defi cits, problems with learning and with motor skills which can be overcome with physiotherapy and that the facial and physical appearance of children with KS is normal

Down syndrome with unusual chromosome translocation: Case report and review

We report a case of Down syndrome with unusual chromosome translocation. The proband is a 1 year old male with 47, XY, der (5) t(5;21) (q11;q21), + der (5) t(5;21). The mother's karyotype was 46, XX, der (5) t(5,21) (q11;q21). The chromosome imbalance resulted from 3:1 meiotic segregation

A newborn with dystopia cantorum and white forelock

We describe a harmonic and normotonic newborn, with peculiar facies characterized by broad nasal rooth, hypoplastic nasal alae and dystopia canthorum (increased distance between the inner canthi: cm 3, > 97° percentile), associated with white medio-frontal forelock with methopic hypochromia. The shape of the mother's eyes, similar to her son's, associated with bilateral hearing loss, premature greying of the hair (at 20 years of age) and vitiligo, induced us to evaluate the child's otoacoustic emissions, which resulted in severe bilateral hearing loss. The physical examination was otherwise normal. Given the presence of the characteristic facial phenotype, associated with deafness and pigmentary anomalies in mother and son, a diagnosis of Waardenburg Syndrome was made. This condition is autosomic dominant. Audiologic follow-up is suggested