Dario Paladini

To analyze the changes over two decades in HIV-infected pregnant women followed at a highly specialized regional center for antenatal care in southern Italy. Since 1985, all HIV-infected pregnant women attending our center have been monitored using progressively updated protocols. By December 2006, 230 deliveries in 159 women had been monitored. Deliveries in HIV-infected women increased from 0.16% (4/2,499) of all deliveries in 1985 to 0.73% (15/2,042) in 2006. The sociodemographic profile of the women changed greatly over the study period, and there was a shift from injecting drug use to heterosexual contact as the main transmission route and an increased proportion of foreign women. Subsequent to improvements in clinical care, the proportion of infected pregnant women receiving antiretroviral treatment increased from 27% (17/63) before 1996 to 81% (63/78) in 2006, with a corresponding decrease in the mother-to-child transmission rate from 36% (16/44) to 0.6% (1/157). The increasing number of HIV-infected pregnant women can be attributed to nonselective antenatal HIV screening, the spread of HIV infection through heterosexual contacts, and the desire of HIV-infected women to have children. In this context, highly specialized reference centers can play an important role in providing HIV-infected pregnant women with optimal care and in reducing mother-to-child transmission rates to very low levels.

Nager syndrome, or acrofacial dysostosis, is a rare malformation complex characterized by facial anomalies (external ear abnormalities and micrognathia) and limb defects (radial hypoplasia and absence of the thumb and/or other digits). Since its first description in 1948, more than 80 cases have been reported in the pediatric literature. However, there is only one previous report on the prenatal recognition of the syndrome, which was at 30 weeks of gestation. We report here a further case of Nager syndrome, prospectively diagnosed at 23 weeks of gestation. Copyright © 2003 ISUOG. Published by John Wiley & Sons, Ltd.

Toriello–Carey syndrome is a rare malformative complex, described for the first time in 1988, characterized by agenesis of the corpus callosum, facial anomalies, cardiac defects and hypotonia. Relatively few neonatal cases have been reported. We describe here the first prenatal ultrasound diagnosis of the syndrome based on the detection of agenesis of the corpus callosum and spongious cardiomyopathy in a 22‐week‐old fetus of a couple with positive family history. The first sib of the couple was diagnosed with Toriello–Carey syndrome at 1 year of age, and had, in addition to the typical facial anomalies not detectable by ultrasound, agenesis of the corpus callosum and the same heart lesion (spongious cardiomyopathy). This report demonstrates that prenatal diagnosis of Toriello–Carey syndrome is feasible in the second trimester of pregnancy. Copyright © 2002 John Wiley & Sons, Ltd.

Objective: To assess the feasibility of ultrasound identification of aortic valve anatomy in the fetus, with particular emphasis on the detection of bicuspid aortic valve.Methods: This study was a prospective analysis of 21 fetuses with prenatally diagnosed congenital left heart obstructive lesions and 45 normal fetuses undergoing routine ultrasound evaluated at a tertiary referral center. These fetuses underwent detailed echocardiography, including the study of the aortic valve on a targeted short‐axis view of the right ventricle. Necropsies or postnatal echocardiograms were available for confirmation of the diagnosis in all cases.Results: Aortic cusps and commissures were satisfactorily visualized in 38/45 (84%) normal fetuses and in 18/21 (86%) fetuses with congenital heart disease. The aortic valve was correctly defined as bicuspid in one normal fetus and in six fetuses with congenital heart disease. In two fetuses with a positive family history, the bicuspid aortic valve was isolated. There was one incorrect diagnosis (a unicuspid unicommissural valve diagnosed prenatally as a bicuspid aortic valve in a fetus with severe aortic stenosis) and one false‐positive diagnosis in a fetus diagnosed with a coarctation and a bicuspid aortic valve late in the third trimester of pregnancy and in which both anomalies were not confirmed at neonatal echocardiography.Conclusions: This study demonstrated that aortic valve anatomy can be satisfactorily assessed in fetuses with and without left heart obstructive lesions. We believe that a detailed search for a bicuspid aortic valve should be attempted in all patients referred for a positive family history of congenital heart disease, in general, and of left ventricle outflow tract obstruction or bicuspid aortic valve, in particular. In fact, the presence of an asymptomatic bicuspid aortic valve has been demonstrated to represent an important factor predisposing to the development of bacterial endocarditis and dissecting aortic aneurysm late in adult life. Therefore, an early detection of such an anomaly may contribute to ensure a longer symptom‐free lifespan of individuals with the most common cardiac anomaly at birth. Copyright © 2002 International Society of Ultrasound in Obstetrics and Gynecology

Objectives: To analyse the spectrum and frequencies of observed malformations; to evaluate associated extracardiac and chromosomal anomalies and outcomes in each diagnostic category; to demonstrate the need for a multidisciplinary approach to the diagnosis of CHD in the fetus.Methods: From January 1994 to December 1999, 450 cases of CHD were detected among 4052 pregnancies at risk of fetal CHD seen at our combined unit. Confirmation of the diagnosis was not available in 50 cases, leaving 400 cases for analysis. From our computerized database, the following variables were retrieved and analysed: indication, gestational age at diagnosis, associated extracardiac anomalies, karyotype, natural history, pregnancy and feto‐neonatal outcome.Results: CHDs most commonly detected were VSD (75 cases), AVSD (40 cases) and HLH (37 cases). The aneuploidy rate was 29.3% in the 355 cases submitted for karyotyping (25.9% in the whole series), with a prevalence of trisomy 21 and 18 (48 and 30 cases, respectively). The aneuploidy rate was highest for AVSD (80%), coarctation (49%), tetralogy of Fallot and VSD (45%). Associated extracardiac anomalies were present in 29.5% of the cases (118/400). As for pregnancy outcome, there were 150 (37.5%) terminations of pregnancy, 16 (4%) intrauterine fetal deaths and 85 (21.3%) neonatal deaths. The remaining 149 neonates are alive (37.3% survival rate). The termination rate for pregnancies in which CHD was detected at a gestational age <25 weeks was 65.2%. Evolutive changes determined progressive prognostic deterioration in 21 cases (5%), consisting of semilunar valve obstructions and development of ventricular hypoplasia.Conclusions: The high association rate with extracardiac and chromosomal anomalies (29.3% and 25.9%) and the possible progressive prognostic deterioration require a multidisciplinary team for correct management and follow‐up. Survival of fetuses with certain CHD is severely reduced, in comparison with postnatal figures, for the common association with aneuploidies. Copyright © 2002 John Wiley & Sons, Ltd.

We report a case of prenatal ultrasound diagnosis of frontonasal dysplasia. This represents a very rare disorder involving the face (hypertelorism, median cleft lip, absence of the nasal tip) and often the central nervous system (CNS) (cranium bifidum occultum, ethmoidal cephalocele, agenesis of the corpus callosum). Although several of the typical anomalies are diagnosable by ultrasound in utero (hypertelorism, median cleft lip, anterior cephalocele), very few cases have been reported prenatally, the present being only the third. In the present case, hemimegalencephaly is first reported among the anomalies possibly associated with frontonasal dysplasia. The diagnosis was made at 22 weeks' gestation and was confirmed by necropsy following termination of pregnancy. Copyright © 2002 John Wiley & Sons, Ltd.

The Pena–Shokeir phenotype represents an autosomal recessive syndrome characterized by neurogenic arthrogryposis, facial anomalies and pulmonary hypoplasia. Prenatal diagnosis of this disease has been reported prospectively and in cases with positive family history. We describe here a patient who has had three consecutive pregnancies affected by the Pena–Shokeir syndrome. In these pregnancies, the onset of the arthrogryposis varied between the 12th and the 18th week of gestation. Therefore, the possibility of a variable chronological development of the main diagnostic feature of the syndrome, arthrogryposis, has to be taken into proper consideration while counseling families with a positive history for the Pena–Shokeir phenotype. Copyright © 2001 International Society of Ultrasound in Obstetrics and Gynecology

The Pallister-Killian syndrome (PKS) represents a rare polymalformative complex characterized by a tissue-specific mosaic distribution of an additional isochromosome 12p and characterized by diaphragmatic hernia, rhizomelic limb shortening, facial anomalies and, rarely, acral hypoplasia. Since diaphragmatic hernia and acral hypoplasia can be also found in Fryns syndrome, the differential diagnosis between the two conditions depends on the demonstration of the 12p isochromosome by FISH. Prenatal diagnosis of PKS has been reported in cases submitted to karyotyping due to advanced maternal age or congenital anomalies detected on second trimester ultrasound. Among the ultrasound-detected malformations, little attention has been paid to facial anomalies. We describe a case in which PKS was prospectively suspected on the basis of the various anomalies detected at ultrasound, namely diaphragmatic hernia, rhizomelic limb shortening, and abnormal facial profile. The diagnosis was then confirmed by FISH on amniocytes and peripheral lymphocytes. In the present case, the disclosure of typical facial abnormalities significantly contributed to the differentiation between PKS and Fryns syndrome.