Giuseppe Noia

Congenital cystic adenomatoid malformation of the lung: antenatal ultrasound findings and fetal-neonatal outcome. Fifteen years of experience

Seventeen cases of congenital cystic adenomatoid malformation of the lung (CCAM) are reported. They were followed up over a period of 1 month to 15 years. Diagnosis was made by prenatal ultrasound. Our purpose was to evaluate the fetal-neonatal outcome and the prognostic elements observable through ultrasound techniques, and to compare all types of CCAM. The outcome observed ranged from total prenatal resolution to postnatal spontaneous regression of the lesion, to complications due to the presence of nonimmune fetal hydrops (NIFH), intrauterine death and the necessity of surgical intervention. In our experience only hydrops represented a negative predictor of outcome since death occurred in all cases with this pathology. In the absence of NIFH, counselling should stress the prevalence of a positive outcome, even in cases of surgical intervention.

Transabdominal amnioinfusion treatment of severe oligohydramnios in preterm premature rupture of membranes at less than 26 gestational weeks.

Objective: To evaluate the efficacy of transabdominal amnioinfusion on feto-neonatal and maternal morbidity and feto-neonatal mortality. Methods: We studied 71 patients with preterm premature rupture of membranes (pPROM) at <26 weeks of gestational age. Thirty-four patients were managed expectantly and 37 underwent serial transabdominal amnioinfusion with saline every 7 days in case of persistent oligohydramnios. Results: Latency period pPROM delivery, week of delivery (26.0 vs. 22.4, p < 0.001), neonatal weight (922 vs. 602, p < 0.01) and the percentage of intrauterine fetal survival were higher in treated than in control groups (64.8 vs. 32.3%, p < 0.01). In amnioinfusion-treated patients, we did not note a higher rate of complications from infection during both pregnancy and puerperium. In the amnioinfusion group, fluid loss within 6 h after infusion is the main variable in predicting pulmonary hypoplasia and neonatal survival. Conclusions: Our data suggest that amnioinfusion seems to be a low fetal and maternal risk technique that modifies the natural history of pPROM, improving fetal intrauterine stay and survival.

Role of fetal MRI in the diagnosis of cerebral ventriculomegaly assessed by ultrasonography

PurposeTo evaluate the additional diagnostic value of fetal MRI to evaluate cerebral ventriculomegaly assessed by ultrasonography (US) for the possibility to change the diagnosis, the counseling and the management of pregnancy.Materials and MethodsFrom february 2006 to october 2008, we studied 55 pregnant women by fetal MRI (mean age 28 years), 4 with twin pregnancy, for a total of 59 fetuses with mean gestational age of 27 weeks. The number of fetuses affected by ventriculomegaly assessed by US was 55. All fetuses had a US diagnosis of ventriculomegaly: 29 fetuses with isolated ventriculomegaly and 26 fetuses with ventriculomegaly associated with CNS (central nervous system) abnormalities (18) and with no CNS abnormalities (8).ResultsThe findings showed that the two techniques are substantially in agreement in defining the degree of VM, with the exception of some cases in which the disagreement could be attributed to the possible progression of the dilatation between the US and MRI examinations, which sway between two days and two weeks. We proved a low correlation between US and MRI in the evaluation of ventriculomegaly associated either with CNS or non-CNS anomalies: in fact while fetal MRI detected 26/55 (47,3%) VM associated with CNS anomalies, US demonstrated only 18/55(32,7%). Referring to VM associated with non-CNS anomalies, MRI diagnosed 10/55 cases (18,2%) compared to 8/55 fetuses (14,5%) showed by US.ConclusionsOur experience demonstrated that fetal MRI has an important role as adjunctive tool to sonography in the evaluation of cerebral ventriculomegaly for the additional informations given to parents and for the possibility to change the diagnosis, the counseling and the management of pregnancy.RiassuntoObiettivoLo scopo del nostro studio è valutare il ruolo della risonanza magnetica nell’inquadramento diagnostico delle ventricolomegalie per le conseguenze che un cambiamento della diagnosi può avere sul counselling materno, sul management della gravidanza e sulla pianificazione di eventuali interventi pre e postnatali, nell’ottica di una gestione multidisciplinare.Materiali e metodiNel periodo compreso fra febbraio 2006 ed ottobre 2008, abbiamo sottoposto a risonanza magnetica 55 donne in stato di gravidanza (età media 28 aa), 4 delle quali con gravidanze gemellari, per un totale di 59 feti di età gestazionale con età gestazionale media di 27 settimane. Il numero di feti interessati da ventricolomegalia secondo l’indicazione ecografica era di 55. Tutti i feti avevano diagnosi ecografica di ventricolomegalia: 29 feti con ventricolomegalia isolata e 26 feti con ventricolomegalia associata; in particolare in quest’ultimo gruppo 18 feti riportavano associazioni con anomalie del SNC ed 8 feti con anomalie di altri distretti.RisultatiÈ emerso così che le due metodiche sono sostanzialmente in accordo nel definire l’entità della ventricolomegalia, fatta eccezione per alcuni casi nei quali la discordanza potrebbe attribuirsi alla possibile progressione della dilatazione nell’arco di tempo intercorso fra ecografia e risonanza magnetica, variabile fra 2 giorni e 2 settimane. Minor grado di accordo è invece emerso dal confronto rispetto alla associazione delle ventricolomegalie con ulteriori anomalie sia del SNC fetale che di altri organi e apparati. Infatti la RM ha evidenziato 26/55 (47,3%) VM associate ad anomalie del SNC, versus 18/55 (32,7%) diagnosi di associazione con ulteriori anomalie encefaliche poste con l’ecografia; quanto alle associazioni con anomalie di altri distretti la RM ne ha posto diagnosi in 10/55 casi (18,2%) e l’ecografia in 8/55 feti (14,5%).ConclusioniIn base ai nostri risultati concludiamo che qualora si riscontri una ventricolomegalia vadano sempre informati i genitori circa il rischio di ulteriori anomalie associate e di conseguenti possibili ripercussioni sullo sviluppo psicomotorio del nascituro rispetto alla popolazione normale, consigliandone l’approfondimento diagnostico con i mezzi diagnostici disponibili.

Sacrococcygeal teratoma. Outcome and management. An analysis of 17 cases.

Abstract Aims: The authors compare their experience of 17 cases of sacrococcygeal teratoma (SCT) with the literature in an attempt to clarify the natural history of this tumor and to identify factors related to its prognosis and management. Methods: The obstetrical, neonatal and surgical data were analyzed for 17 cases of SCT observed between July 1985 and December 1998. Results: Three fetuses died in utero or shortly after birth. In the remaining 14, the tumors were removed. Twelve of the infants are currently tumor-free, with good sphincter control and lower-limb function. The remaining two died: one had a malignant tumor, and the other had a recurrence of an embryonal carcinoma. Recurrent tumors (mature histotypes) were also removed from two of the 12 patients who survived. Conclusions: Benign SCTs generally have favorable prognosis. Negative prognostic factors for SCT include solid tumors, those detected early in pregnancy, malignant histotypes, polyhydramnios, placentomegaly, and fetal hydrops.

Early Prenatal Diagnosis and Therapy of Fetal Hypothyroid Goiter

We report a case of early diagnosis of iodide-induced fetal hypothyroidism at 22 weeks of gestation, confirmed at 29 weeks by cordocentesis and successfully treated intra-amniotically. The ultrasonographic feature was the presence of two echogenic masses in the fetal neck; polyhydramnios was absent. Mild hypothyroidism was diagnosed based on fetal serum obtained by percutaneous umbilical blood sampling at 29 weeks of gestation. The persistence of fetal hypothyroidism in spite of maternal thyroid improvement was confirmed by a second cordocentesis at 35 weeks of gestation, and a single injection of intra-amniotic levothyroxine (250 micrograms) was performed. The serial ultrasonographic examinations showed disappearance of the fetal goiter. A healthy female baby (3,630 g) was delivered at term. At birth, the thyroid gland was not enlarged, and neonatal thyroid hormones were within the normal range. This case suggests that cordocentesis is a reliable method to assess the fetal thyroid status; moreover a single injection of intra-amniotic thyroxine was effective in treating fetal hypothyroid goiter.

Coenzyme Q10 in pregnancy.

Our objectives were to assess the plasma coenzyme Q10 (CoQ10) levels in normal pregnancy, in pregnancy with a spontaneous contractile event, in spontaneous abortion and in threatened abortion. Six hundred and fifteen CoQ10 levels were analyzed in 483 pregnant women: 350 patients were employed to design a normal curve; 66 patients with spontaneous contractile activity underwent two or more CoQ10 analyses in different trimesters; 49 patients presented spontaneous abortion, and 18 patients threatened abortion. The normal curve of plasma CoQ10 levels rises during each trimester of pregnancy, while there is a correspondence between a low CoQ10 level and spontaneous abortion. Furthermore we found a statistically significant difference between the plasma CoQ10 value in spontaneous contractile activity, mainly in the third trimester. We found an increase in the plasma CoQ10 level in relation to the contractile activity of the uterine muscle. Further studies are necessary to explain the involvement of this marker on pregnancy in clinical practice.

Invasive fetal therapies: approach and results in treating fetal ovarian cysts

Objective. To show the validity of prenatal invasive surgical intervention when a fetal ovarian cyst is diagnosed, compared to a wait and see attitude, in order to avoid possible prenatal and postnatal complications. Patients. Fourteen cases of intra-abdominal cysts monitored in our center between April 2005 and November 2010. All cases were first diagnosed in the third trimester, and were monitored for the remainder of the pregnancy and after delivery (2 months–3 years postnatally). Surgical intervention. Upon maternal and fetal cutaneous anesthesia performed trans-amniotically, the cystic fluid (mean contents 43.85 cc, DS 46.27) was extracted for cytological, biochemical, and hormonal examination. Results. Thirteen cases of intra-abdominal cysts (92.8%) were fetal ovarian cysts. Ninety-two percent of pregnancies bearing such a condition were successfully concluded (n = 12). Sixty-nine percent concluded in vaginal delivery (n = 9). None experienced maternal and/or fetal complications. Every drained cyst had an estradiol concentration higher than 10,000 pg/ml. Conclusions. The aspiration of ovarian cysts exceeding a 40 mm diameter, performed as early as possible, allows a good longitudinal treatment of this fetal affection, thus avoiding torsion, tissue necrosis, and invasive postnatal surgery, as well as giving hope of future gestational capability to the fetus/newborn.

Sexuality, pre-conception counseling and urological management of pregnancy for young women with spina bifida

A great number of newborns with spina bifida now survive with a growing life expectancy. Support with regard to sexual issues is essential in the management of adolescents with spina bifida, who require specific knowledge of sexual problems related to their disability. Women with spina bifida are usually fertile and need pre-conception counseling. Furthermore, compared to healthy women they have a higher chance of conceiving a child with spina bifida, so they are treated with periconceptional folic acid supplements. In addition pregnancies in women with spina bifida require adequate management of secondary conditions, mainly urological issues, which are exacerbated during pregnancy. This article gives an overview of sexual education, sex functioning and sexual activity among adolescents with spina bifida. Moreover, we aim to support young women with spina bifida, providing pre-conception counseling and practical guidelines essential for the urological management of their pregnancy.

Factor V deficiency in pregnancy complicated by Rh immunization and placenta previa : A case report and review of the literature

Polyhydramnios is a symptom of a continuity of conditions. As suggested above, traditionally the underlying conditions are divided into maternal, fetal, and placental causes. Nevertheless, approximately 60% of cases of polyhydramnios arc idiopathic in origin ( I ) . The most common known causes of polyhydramnios are matcrnal diabetes (1.3-36.1Y0) (1, 4). twin and triplet pregnancies, gastroentestinal obstructions, CNS-rnalformations, and fetal chromosomal disorders (1, 2, 4). Rarer conditions leading to polyhydramnios are placental tumors, fetal tumors, and rare fetal disorders including fetal infection ( 1 ) . Because of these conditions and the fact that polyhydramnios increases the risk of preterm delivery (up to 30% of these pregnancies end up in early delivery (4)) as well as the risk of intrapartum complications, especially amniotic cord complication and abruptio placentae ( I ) , the perinatal morbidity and mortality are high. Incidences of neonatal mortality between 16% and 69% are reported in different materials ( 1 ), just one reason why pregnancies complicated with polyhydramnios must be taken very seriously. Traditionally a volume of amniotic fluid of 2000 ml has been the lower limit of polyhydramnios. However, the exact volume of amniotic fluid is impossible to measure without using invasive procedures, which are today considered contraindicated. Two new methods of estimating amniotic fluid volume both based on the ultrasound examination have been developed: The traditional one-pocket measurement (the vertical depth of the largest fluid pocket measuring more than 8 cm=polyhydramnios), and the more recently developed four-quadrant technique, in which the largest pockets of the four abdominal quadrants are measured, added, and expressed as the amniotic fluid index (AFI), an AFI of more than 24 indicating polyhydramnios (5). In a study by Phelan et al. (5 ) , in which both the onepocket technique and the AFI were used in a material of 112 non-diabetic pregnancies, it was shown that AFI was significantly better correlated to pregnancy outcome than the onepocket technique. In our case two different clinicians have used different methods of diagnosing polyhydramnios. However, there is no doubt that the patient suffered from severe polyhydramnios. The treatment of choice in most cases of polyhydramnios is controlled removal of amniotic fluid by sterile amniocentesis ( I ) . An alternative is close observation without active treatment. The recently introduced pharmacological treatment by the NSAID indomethasin would in this case not seem rational, as its effect is mainly on the kidneys of the fetus not removing the already produced amniotic fluid between the separated membranes. A number of different authors have in the past described the features of amnion rupture, mostly in association with the amniotic band syndrome (the amputation or malformation of a limb because of amniotic band@) (3). There are few reports of amniotic rupture without the amniotic band syndrome, whether this is because of the rareness of the condition or because it is seldom recognized. To our knowledge no cases of amniotic rupture with severe intermembraneous polyhydramnios but without amniotic band syndrome have been reported in the literature in the recent past. This might be because of the extreme rareness of the condition, or the condition might ‘hide’ among the numerous less severe idiopathic cases only to be revealed during a cesarean section but not to be recognized during vaginal delivery.

Recombinant erythropoietin in the prevention of late anaemia in intrauterine transfused neonates with Rh-haemolytic disease.

Objective: To evaluate the efficacy of recombinant human erythropoietin (rHuEPO) in prevention of late anaemia due to Rh-haemolytic disease in neonates subjected to one or more intrauterine transfusions (IUTs). Study Design: Six neonates (GA 28–38 weeks, BW 980–3,360 g), subjected to one or more IUTs for Rh-haemolytic disease, were treated for 3 weeks with rHuEPO (200 U/kg/day, s.c.) after the second week of life to prevent late anaemia and consequently reduce the need for blood transfusions. All treated neonates were supplemented weekly with iron, vitamin E and folinic acid, intramuscularly. Results: Of the 6 patients studied, 4 preterm neonates, after commencement of rHuEPO treatment, showed a decrease in Hct values with persistent reticulocytopenia, and consequent need for one or more transfusions with packed and filtered red cells (PFRC). These 4 neonates had received a greater blood volume with IUTs than the 2 other term neonates, who, after starting rHuEPO treatment, showed an increase in Hct values and in reticulocyte count, with no transfusion requirements after birth (247 ± 47 vs. 84 ± 76 ml). Conclusions: Our results seem to correlate the efficacy of erythropoietin treatment in prevention of late anaemia resulting from Rh-haemolytic disease to the severity of intrauterine anaemia and to gestational age. Erythropoietin, in fact, was less effective in cases of severe intrauterine anaemia requiring a high volume of PFRC; it was also less effective in the preterm babies, because of the simultaneous presence of anaemia of prematurity and other major diseases.