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Triploidy is characterized by an extra haploid set. We report a rare case of a prenatally diagnosed digynic type (McFadden/Kalousek type 2) triploid fetus with congenital diaphragmatic hernia (CDH). Prenatal ultrasonographic examination allows reliable detection of CDH and it is therefore of great importance for proper parental counselling, as well as performing fetal karyotype for associated chromosomal anomalies., (Copyright 2004 S. Karger AG, Basel)

Although suppression of apoptosis contributes to immune-reconstitution during potent antiretroviral therapy, its relationship with the majors indicators of response to therapy, that is, changes in CD4(+) cell counts and in viral loads (VL), is still debated. We extended our previous study by collecting data on the relationships among apoptosis and immunological and virological parameters during a long-term follow-up of HIV patients with an overall positive response to potent antiretroviral therapy. We report results from 15 patients who completed two years of therapy. In a smaller group of patients, we focused our attention on investigating the specific contribution of the CD8(+) subset in the overall changes in lymphocyte apoptosis, which occur concomitantly with the response to the therapy. Our data, while again confirming that inhibition of PBMC apoptosis is a phenomenon strictly related to a positive response to potent antiretroviral therapy, suggest that CD4(+) cell rescue is not directly dependent on inhibition of CD4(+) cell apoptosis but rather on that of the CD8(+) subset.

We found significant elevated incidence of hypospadias in two towns in Southeastern Sicily selected on the basis of the presence of intense industrial (Augusta) and agricultural (Vittoria) activities. Cases and controls were chosen in records collected from a surveillance system on abnormal live births in the same area and in a large city (Catania) located in an area at low risk of exposure to environmental pollutants. From 1991 to 1998, 16 cases of isolated hypospadias were recorded among male live births in Augusta (12.1 per 1000 male live births) and 24 cases in Vittoria (7.4 per 1000 male live births) with an incidence significantly higher than that expected (3.2 per 1000 in Southeastern Sicily). Relative risks in Augusta and Vittoria were 3.8 (95% confidence interval: 2.16-6.14) and 2.3 (95% confidence interval: 1.48-3.43; P=0.00003 and 0.04, respectively). In Augusta, the incidence of hypospadias was higher than in Vittoria. Significant log odds ratios were found for occupational exposure in fathers both in Augusta and Vittoria (P=0.0478 and 0.026, respectively). However, daily contact with pollutants in Augusta may not be sufficient by itself to determine hypospadias and other factors might be involved. Similar factors may act also in Vittoria. Thus, contact with large amounts of pesticides is, by itself, a risk factor for hypospadias, though genetic and other environmental factors might be involved.

Renal agenesis (RA) appears to be a multifactorial condition with combined genetic and environmental influences. We performed a retrospective case-control study of reproductive history of 26 isolated RA live births cases referred to Sicilian Registry of Congenital Malformations. A statistical significant association for birth weight if we considered all RA together and for bilateral RA alone, an increasing risk for maternal age only in the bilateral RA subgroup and a male predominance both for unilateral and bilateral RA was found. Our results show that some reproductive risk factors may be associated with RA, moreover differences found between subgroups indicate that some risk factors may be different in unilateral and bilateral RA. The association between reproductive risk factors and RA may reflect pathogenetic interaction between genetic and environmental factors. Nevertheless further studies are needed to clarify these associations and to explore the role of perinatal factors in the etiology of renal agenesis. In fact if prenatal or perinatal risk factors are in a causal chain influencing the risk for developing RA, then these data could have important implications in the prevention or treatment of this condition.

Infantile hypertrophic pyloric stenosis (IHPS) is a common condition requiring surgical intervention during the first weeks of life. Up to now the exact etiology of IHPS remains unclear and it is probable that several predisposing risk factors would be associated with the condition. Prompted by the observation that some perinatal factors may be involved in IHPS etiology, we evaluated 171 isolated cases referred to the Sicilian Registry of Congenital Anomalies. Our results show that some perinatal factors like sex ratio imbalance and parity are associated with IHPS, but further investigation is needed to clarify the relationship between genes and other factors involved in IHPS etiology. Therefore the presence of these perinatal factors may be accurately evaluated in genetic counseling to provide a perspective of recurrence prevention.

Pre-auricular tags are relatively common isolated congenital anomalies with a prevalence of about 5 per 1000 live births. Several associations with congenital anomalies have been reported and the opportunity of systematic ultrasonography examinations in these patients were debated in the literature. We conducted a retrospective epidemiological study on 95 affected newborns, to evaluate whether infants with pre-auricular tags may be at risk for associated anomalies. Our results focus the attention on the increased risk of congenital urinary tract and heart malformations in newborns with isolated pre-auricular tags. Therefore, we recommend that a carefully genetic clinical examination to evaluated dysmorphic features evocative of a specific pattern or syndrome and an urinary and cardiac ultrasonography should be performed in infants with isolated pre-auricular tags.

Infants with Down syndrome are known to have a high frequency of associated birth defects and some authors have suggested an association between Down syndrome and oesophageal atresia. We evaluated data from the Sicilian Registry of Congenital Malformations. Our finding of an incidence of 0.9% of oesophageal atresia in children with Down syndrome is more than 30 times higher than expected and more than reported in other studies where the association was present in 0.5% of cases. Our results confirm that the relationship between Down syndrome and oesophageal atresia is a non random association and the observation of this association in several populations with different genetic backgrounds allows us to conclude that a causal relationship may exist between Down syndrome and oesophageal atresia.

A significant bias in sex ratio has been documented for several congenital cardiac malformations. Transposition of the great arteries has been associated with a such a bias but no explanation has been proposed for this bias. We evaluated 95 isolated livebirths with transposition of the great arteries cases referred to the Sicilian Registry of Congenital Malformations from 1991 to 1998. We found a statistically significant male bias of 2.8 and this was significantly associated with both maternal and paternal occupational exposure to agricultural chemicals for male infants with transposition, but not for female infants. This study raises new questions about the possible role played by environmental chemicals in relationship to birth defects and to sex ratio imbalance.

Objective: To compare the effects of oxytocin and amniotomy or vaginal prostaglandin E2 (PGE2) for induction of labour., Study Design: We conducted a randomized clinical trial. Eligible for the trial were women with normal pregnancy, parity 0-3, with intact membranes, >40 weeks of gestation documented by ultrasound examination before 20 weeks gestation, observed in a network of 13 general and teaching hospitals in Italy. Inclusion criteria were cervical Bishop's score 5-7, less than six uterine contractions per hour, single pregnancy, cephalic presentation, no history of cesarean section and uterine surgery. Eligible women were randomly assigned by phone to oxytocin plus amniotomy (163 women) or vaginal PGE2 2 mg, two doses at 6-h intervals (157 women)., Results: Overall, 50 women (15.6%) delivered by cesarean section, 22 (13.5%) randomized to oxytocin, and 28 (17.8%) randomized to PGE2 (not significant). Twelve hours after randomization, induction had failed in 26 women of the 163 randomized to oxytocin plus amniotomy (21.6%) and 34 out of the 157 randomized to PGE2 (15.9%): the difference was not significant. Neonatal outcome was similar in the two groups., Conclusions: This study did not find marked differences in labour and neonatal outcome between women randomized to oxytocin plus amniotomy or vaginal PGE2. A shorter induction delivery interval in the group receiving amniotomy and oxytocin after PGE2 priming was observed.

Ovulation induction with human gonadotropins (hMG or pFSH and hCG) was simultaneously monitored with daily serum 17 beta-estradiol measurements and ultrasound in 38 infertile women. They were subgrouped as follows: A, hypogonadotropic hypogonadism (n. 7); B, polycystic ovary syndrome (n. 13); C, non-PCO chronic anovulation (n. 6); D, unexplained infertility (n. 12). The dose of hMG and the duration of therapy were assessed individually depending on the results of the monitoring when serum estradiol concentration was 500-1500 pg/ml and/or ultrasound showed of a follicle of at least 18 mm, hMG was stopped and hCG was administered 36 hours later. Ovulation was obtained in 61 cases and pregnancy occurred in 12 women out of 64 monitored cycles. The highest pregnancy rate was observed in hypogonadotropic hypogonadism; this group also required the greatest total dose of hMG to obtain ovulation. We confirm that women with PCOS are at increased risk with this therapy, since 5 subjects in our series showed signs of ovarian hyperstimulation in spite of the lowest total dose of FSH administered to this group. We conclude that anovulatory states of various origin are associated with different ovarian sensitivity.