Acrofacial dysostosis syndromes: a relevant prenatal dilemma. A case report and brief literature review.

The acrofacial dysostosis (AFD) syndromes are an heterogeneous group of disorders with undefined classification and inheritance. We report the sonographic and clinical features of an AFD fetus with predominantly pre-axial forms. We made a prenatal diagnosis of Nager syndrome but postnatal examination showed post-axial defects previously undetectable by ultrasound.

Antepartum amnioinfusion: a review.

OBJECTIVE: Antepartum amnioinfusion is a relatively recent procedure introduced with fetal medicine techniques. It is usually indicated for severe oligohydramnios in order to avoid the related complications such as pulmonary hypoplasia, the deforming effects of oligohydramnios, variable fetal heart rate decelerations and intraventricular hemorrhage. Antepartum amnioinfusion is also employed to improve ultrasound visualization in cases with oligohydramnios. Our objective was to evaluate the benefits and complications related to this procedure which is still less commonly used compared to intrapartum amnioinfusion, and whose risks are therefore not well established. STUDY DESIGN: Reports of study designs identified from searches of MEDLINE, PUBMED, the Cochrane Collaboration, specialized databases and bibliographies of review articles were identified. Studies in women who underwent amnioinfusion between 1987 and 2002 were included. RESULTS AND CONCLUSIONS: Amnioinfusion seems to offer several benefits, in terms of both prenatal diagnosis and favorable perinatal outcome. Most clinical experiences report that amnioinfusion is safe, both for the mother and for the fetus. However, randomized control-group studies subdivided on the basis of the cause of oligohydramnios (e.g. premature rupture of membranes, fetal growth restriction, obstructive uropathy and renal agenesis) could help to determine the advantages and risks linked to this procedure. Prospective randomized studies should therefore be encouraged, to clarify any possible doubts regarding the procedure, before it can be introduced into routine practice in the management of oligohydramnios.

Doppler velocimetry and non stress test in severe fetal growth restriction.

OBJECTIVE: The aim of our study was to evaluate the efficacy of Doppler velocimetry and cardiotocography in surveillance of the fetus affected by severe fetal growth retardation (FGR) and hence their capacity in predicting adverse perinatal outcome. This could therefore permit the timing of delivery thus reducing perinatal morbidity and mortality. METHODS: 53 women with high risk pregnancies, all suffering from various pathologies such as gestational hypertension, preeclampsia, HELLP syndrome, Antithrombin III deficit, and in whom FGR (fetal abdominal circumference < 2.5th percentile for gestational age) diagnosed between the 24th and 35th week of gestational age, were retrospectively enrolled in the study. Doppler velocimetry was carried out on the main vascular districts - both arterial [umbilical artery (UA), middle cerebral artery (MCA), aorta (Ao) and uterine artery] and venous [umbilical vein (UV), ductus venosus (DV), inferior vena cava (IVC)]. Also evaluated was the amniotic fluid index (AFI). Daily non stress tests (NST) were conducted at least thrice a day for an overall period of not shorter than 60 min. Also considered were the methods of delivery and the perinatal outcome, e.g. gestational age at birth, perinatal mortality, incidence resuscitation, etc. RESULTS: The 53 patients studied were subdivided into three groups on the basis of the initial velocimetric exam of the umbilical and uterine arteries. Group A was comprised of those with altered waveforms of the UA, Group B those with altered waveforms on the uterine artery while Group C contained those with altered waveforms both of the UA and uterine artery. The period of study for group C was on average six days (p < 0.05) while for groups A and B they were on average 10 and 22 days, respectively. Group C also presented higher incidences of altered waveforms in the venous compartment, i.e. absent or reversed end diastole (ARDEF) was observed in 89% of the cases versus 0% and 7.6% observed in Group A and B, respectively. Altered waveforms in the DV and pulsations in the UV were both observed in Group C while the same was not observed in either group A or B. The NST did not show any substantial difference between the groups - only as the appearance of decelerations present in over half the cases in all groups at the end of the study. Group C also presented higher incidences in adverse perinatal outcome as compared to groups A and B such as as low birth weight (868 g vs 1,324 g & 1,397 g, p < 0.001), neonatal resuscitation (52.6% vs 0% & 7.6% p = 0.001), longer periods of admission to neonatal intensive care unit (67 days vs 32 & 33 p < 0.001) and perinatal mortality (36% vs 0 & 0, p < 0.05). The velocimetric indices which appear to better predict perinatal mortality are those related to the venous compartment giving a diagnostic accuracy of 92.8% (KI > 0.75) in case of pulsations in the UV, 86.6% (KI > 0.75) with alterations on the DV, and of 78.5% (KI > 0.40) for those on the IVC. Cardiotocography revealed to be less capable in predicting perinatal mortality giving a diagnostic accuracy of 66.6% (KI > 0.40) with a non reactive, non variable NST. CONCLUSION: The data presented show that velocimetric modifications in the fetal venous compartment constitute a relevant prognostic sign in the prediction of perinatal mortality and neonatal resuscitation. The further the vessels compromised are from the heart, the higher is the relative risk for perinatal mortality, equal to 5.0 (95% C.I. = 0.61-40.9) with alterations on the IVC, of 8.2 (95% CI = 1.04-61.5) when they involve the DV, and of 18.0 (95% = 2.44-133) when pulsations are obtained on the UV.

[Sonographic characterization, Doppler ultrasonography and tumor markers in the diagnosis of malignancy of ovarian masses]. / Ecostructtura, eco Doppler e markers tumorali nella diagnosi di malignità delle masse ovariche.

BACKGROUND: The study analyses the diagnostic possibilities regarding ovarian neoplasms offered by different clinical approaches: B-mode morphological ultrasonographic examination, colour Doppler and Doppler pulsed ultrasonography, and lastly the assay of a number of tumour markers. METHODS: A prospective study was carried out in 125 selected patients attending the Ultrasonography unit of the Obstetrics and Gynecology Clinic at Parma University between June 1997 and June 1999 who presented an adnexal mass . All patients underwent transvaginal ultrasonography (multifrequency vaginal probe 5.0-6.5 MHz, Esaote Idea, Genova) to characterise the mass, applying 5 different ultrasonographic scores: Granberg, Sassone, Di Priest, Lerner, Ferrazzi. Colour Doppler imaging was then performed to analyse the vascularisation of the mass, also using pulsed Doppler to study a number of velocimetric parameters: pulsatility index, index of resistance, systolic and diastolic peak velocity, mean velocity. All the patients underwent surgery using laparotomy or video laparoscopy, accompanied by histological analysis. A number of different tumour markers were assayed prior to surgery: Cal25, CA19-9, CEA, beta-HCG, alpha-fetoprotein. RESULTS: Out of 127 pelvic masses examined, histological analysis showed that 19 were malignant and 108 benign. The diagnostic accuracy of malignancy was comparable for the 5 scores studied, with a minimum of 57.48% for Lerner and a maximum of 77.16% for Di Priest. The central importance of vascularisation was the only significant parameter among those analysed using colour Doppler which was useful for the diagnosis of a malignant neoplasm, with a diagnostic accuracy of 82.95%. No indicator obtained using pulsed Doppler was useful for diagnostic purposes. CA125 was the only tumour marker that revealed a statistically significant difference emerged between the benign (21.6 U/ml) and malignant (220.8 U/ml) masses. Its diagnostic accuracy was 75.58%. CONCLUSIONS: This study confirmed that the three methods analysed do not differentiate substantially in their overall diagnostic capacity of malignant ovarian neoplasms. The best performances for ecographic scores (Di Priest) did not exceed a sensitivity of 89.47% with a 21.25% incidence of false positives; this was comparable to CA125 with a sensitivity of 85.71% and false positives in 22.09%. In relation to the central importance of vascularisation, colour Doppler achieved a lower sensitivity (55.55%), but this was confirmed by a low incidence of false positives (7.95%). This revealed its importance as a useful method, especially for excluding the presence of malignant tumours.

[Vertical transmission of HIV infection: risk factors and prevention strategies]. / Trasmissione verticale dell'infezione da HIV: fattori di rischio e strategie di prevenzione.

In this study it has been evaluated the connection between the maternal immune status and the obstetrical factors on the one hand end the perinatal transmission of HIV in the other as well as, the effects of zidovudine prophylaxis and elective caesarean section on vertical HIV transmission. From January 1987 to September 1999, 60 HIV infected pregnant women were followed with their 64 infants. From July 1995 15 women and their respective children were treated with zidovudine prophylaxis (protocol ACTG 076); from June 1997, in 8 of these patients a systematic caesarean section was performed (7 electively and 1 on an emergent basis). The transmission rare was 20.5% among the 44 children in the group without zidovudine prophylaxis, compared with 7.1% among the 14 children in the group receiving Zidovudine. As for as the mother-child pairs receiving Zidovudine therapy, the rate of vertical transmission was 0% for the 7 mothers who underwent elective cesarean section and 14.3% for the 7 mothers with other ways of delivery. The interaction between zidovudine prophylaxis and elective caesarean section was associated with the lowest rate of vertical HIV transmission.

[Amnioinfusion: techniques, indications, and controlled retrospective study of 55 cases]. / Amnioinfusione: tecniche, indicazioni e studio retrospettivo controllato di 55 casi.

Amnioinfusion is a relatively recent procedure introduced among fetal medicine techniques. Its applications focus on two different methods: transcervical and transabdominal. The first procedure usually is carried out during "intrapartum amnioinfusion" to prevent or treat fetal heart rate (FHR) decelerations related to oligohydramnios or to dilute thick meconium staining of the amniotic fluid. The latter method used during "antepartum amnioinfusion" is usually indicated for severe oligohydramnios in order to avoid the complications related such as pulmonary hypoplasia, deforming effects of oligohydramnios, variable FHR decelerations and intraventricular hemorrhages. Antepartum amnioinfusion, also used to improve ultrasound visualisation in presence of oligohydramnios, is less employed as compared to intrapartum amnioinfusion, therefore its risks are not well established. In order to study possible adverse effects on the mother or foetus, fifty five patients affected by oligohydramnios at 17th-34th week of gestational age were submitted to antepartum amnioinfusion (1-5 procedures) and were matched retrospectively with forty seven women with the same characteristics treated with the conservative and expectant management. The trend of pregnancy was the same for both groups in relation to maternal fever > 38 degrees (10.9% in the amnioinfused group vs 17.0% in control group ns), leukocyte count > 18,000/mm3 (25.5% vs 21.3%, ns), C-reactive protein > 10 ng/ml (10.9% vs 6.4%, ns). The latency period between admission and delivery was significantly longer in the amnioinfused group than in the control one [21 (range 1-98) vs 9 days (range 0-72); p < 0.001] and the frequency of Apgar score < 7 at the 5th min was less represented in the amnioinfused group than in the control group (32.3% vs 66.6%; p < 0.001). In conclusion, it was interesting to note that antepartum amnioinfusion seems to increase the latency period between premature rupture of membranes and delivery, but it remains to clarify if this procedure is as much safe for the fetus as for the mother.

[Vertical transmission of the hepatitis C virus]. / La trasmissione verticale del virus dell'epatite C.

The incidence of hepatitis C in childhood is approximately 0.4%. The mode of transmission can be parenteral, sexual, occupational and also vertical. The latter has an incidence that varies widely and it increases in the case of human immuno-deficiency virus (HIV) coinfection and high titers of HCV in the mother. The vertical transmission is not influenced by breast feeding, however, data are discrepant with regard to child delivery (cesarean section vs vaginal delivery). Ninety-seven babies born from mothers with hepatitis C from 1996 to 1999, were evaluated prospectively in the Day Hospital of the Pediatric Department of Parma. The protocol of observation established a blood sampling for titers of antibodies anti-HCV and HCV-RNA at the 3rd trimester of pregnancy and subsequent clinical and biochemical controls at 3-6-9-12-15 and 18 months. Thirty (31.2%) out of the 96 mothers evaluated were positive for antibodies anti-HCV and 66 (68.8%) were positive for antibodies anti-HCV and HCV-RNA. Five (5.15%) out of the 97 babies evaluated were infected by HCV. Of these 4 were delivered vaginally and 1 by cesarean section. Of the 3 babies born to mothers with HIV coinfection, none was infected by HIV, but 1 was infected by HCV. Vertical transmission is increased by HCV viral load or HIV coinfection in the mother. The vaginal delivery and breastfeeding do not represent an additional risk factor.

[Risk of materno-fetal transmission of the HIV infection with antiretroviral therapy and cesarean section: experience of the Parma group]. / Rischio di trasmissione materno-fetale dell'infezione da HIV mediante terapia antiretrovirale e taglio cesareo: esperienza del gruppo di Parma.

Vertical transmission of HIV is by far the most important way of infection in pediatric patients. Transmission rate of infection varies between 15-40% in the absence of antiretroviral prophylaxis. Only 2% of infected pregnant women who underwent caesarean section and zidovudine treatment transmitted the infection to their newborns. From January 1995 to September 2000 twenty seropositive pregnant women and their twenty newborns were followed at the Azienda Ospedaliera of Parma. Nine women (45%) were treated with only zidovudine according to the ACTG 076 protocol; eight women (40%) continued the treatment they were assuming before pregnancy with the eventual addition of zidovudine. 3 women (15%) were not treated because HIV infection was only detected after delivery. 15 women underwent caesarean section, in 13 cases in association to antiretroviral prophylaxis: in the remaining 2 cases no intrapartum treatment was started due to the urgency of delivery. The rate of vertical transmission among the 20 women was 5% (1/20), significantly less then that observed (20.5%) among 31 pregnant HIV women followed in Parma from January 1987 to December 1994 and not treated with antiretroviral prophylaxis and/or cesarean section (Magnani G. Personal data). The only infected baby was born by vaginal delivery. No transmission was observed in the group of pregnant women who underwent the combination of antiretroviral prophylaxis and cesarean section.

[Preliminary data on early discharge after delivery]. / Dati preliminari sulla dimissione precoce dopo il parto.

Puerpera and baby's early discharging falls within a bigger project that deals with the reduction of medical treatment and with the razionalization of economic resources. We can talk about early discharging when it occurs by 48 hours after a vaginal childbirth and by 96 hours after a cesarean section. When the mother and the baby have been discharged from hospital, their health will chiefly depend on the efficiency of the sanitary organization that works on the territory. If the nursing service at home is competent and specialized, the stay in hospital will get shorter and shorter. The most deepen studies about early discharging after vaginal childbirth agree upon the lack of any risk both for the mother and for the baby. Early discharging is possible without any risk for the mother's health after a cesarean section as well, but only if the woman is well-disposed, if she is at low risk, if she answers to predetermined criteria of eligibility, and if she has an adequate follow-up when she comes back home. On the basis of these evidences, we have traced a clinical outline that draws the early discharging in obstetrics that, in the last five years, has led to a progressive reduction of the stay in hospital both after vaginal childbirth and after cesarean section.

[Prevention of preeclampsia with low-dose acetyl salicylic acid: critical assessment]. / Prevenzione della preeclampsia con acido acetil salicilico a basse dosi: valutazione critica.

The Authors present a critical review of the published literature about the effect of low dose of acido acetilsalicilico on prevention and treatment of preeclampic. Beginning from the effects of low daily dose of acido acetilsalicilico on the pregnancy, the Authors present the published datas from 1970 until today, and suggest the present directions for use of acido acetilsalicilico in pregnancy.

The prevalence of HCV infection in a cohort of pregnant women, the related risk factors and the possibility of vertical transmission.

The prevalence of antibodies for one or more HCV antigens was 2.3% of 1,347 mothers at childbirth. Compared with the principal factors studied, the presence of antibodies was more frequent in women who were carriers of HIV infection (3/3), in those who had suffered liver diseases (5/37) or who had had transfusion (3/25). This was as opposed to women who did not have any risk factor (p < 0.001). The prevalence of HCV-RNA was 1.3%; in relation to the antibody state, such a condition was more frequent in subjects with antibodies for 3 or 4 antigens (about 80%) compared with those who were positive for 1 or 2 antigens. HCV-RNA of the same genotype as the mother (type 1; 1a) was also found in the funicular blood of 2 of the 18 babies born to mothers who were positive for HCV-RNA. In the course of the follow-up (from the 3rd to the 18th month) the viral RNA was not found in any of the babies, nor was it found in the 2 who were positive at birth. Even the antibodies gradually disappeared, although slowly. At the 10th month, 91% of the babies resulted as having no antibodies and at the 18th month none of the babies resulted as having antibodies. Breast-feeding also appeared to have no influence on the transmission of the infection; out of 18 viremic mothers indeed 12 (67%) breast-fed their babies.

Plasma concentration, urinary excretion and renal clearance of L-carnitine during pregnancy: a reversible secondary L-carnitine deficiency.

Plasma concentration, urinary excretion and renal clearance of free, total and esterified L-carnitine were monitored monthly in 14 women during the last 6 months of pregnancy and 1 month after delivery. Plasma concentration and renal clearance measured 1 month after delivery overlapped with normal values for females of comparable age, and were considered the reference values for further comparisons. Plasma concentration of free, total and esterified L-carnitine decreased during pregnancy, reaching values as low as half of those measured 1 month after delivery, whereas urinary excretion and renal clearance, mainly of L-carnitine esters, increased, with renal clearance reaching a peak at the 16th week of pregnancy. Pregnancy thus leads to a reversible secondary deficiency of L-carnitine. The involvement of L-carnitine in the excretion of an excess of acyl-S-coenzyme A groups to prevent a possible systemic acidosis, as well as hormonal changes and a reduction of L-carnitine biosynthesis, could play a significant role in the variations in L-carnitine metabolism encountered in pregnancy. As physiological components of L-carnitine are excreted via a saturable tubular reabsorption, their threshold seems to follow plasma concentration, even when they decrease markedly, as in pregnancy.

Fetal distress: role of cardiotocography.

The FHR monitoring in 320 patients with fetal distress were randomly analyzed and revised over 16 years. The aim of our study, in so long a period, was to evaluate the role of cardiotocography in order to preserve the fetus from irreversible damage. The results show a progressive improvement of neonatal outcome, due to the development of the experience with this method, and to the improvement in interpretative criteria. However, cardiotocography showed its limits, and the moment has come to seek new integrative methods to associate cardiotocography with a continuous monitoring of the fetal status.

[Labor in patients previously subjected to cesarean section: maternal and fetal aspects. Review of the literature]. / Il parto nella paziente precesarizzata: aspetti materni e fetali. Rassegna bibliografica.

In the present study the authors, on the basis of the existing literature, analyse the delivery problem in previous cesarean section patient, especially about maternal mortality and morbidity. After cesarean section vaginal delivery may occur only in selected patients, with precautionary measures and continuous monitoring in labor. The maternal mortality is lower in vaginal delivery patients after cesarean section than in iterative cesarean section patients; also the post operating complications are more frequent after iterative cesarean section. Perinatal mortality is in relation to uterine rupture, perinatal morbidity to iatrogenic prematurity and neonatal respiratory adaptation.

[Clinical indications of echographic study during the use of intrauterine devices (IUD)]. / Indicazioni cliniche all'esame ecografico nell'uso dei dispositivi intrauterini (DIU).

The women who using intrauterine devices (IUD) for contraception are more and more, and the accidents and complications for this are topical. Frequently these situations aren't easily resolved, and the ultrasonography usually brings a true complete information. The Authors have marked a fashionable review on the use of ultrasonography in the control of IUD, specifying an important utilization of this technique.