Amniocentesis and chorionic villus sampling in twin gestations: which is the best sampling technique?

OBJECTIVE: To compare the fetal loss rate <24 weeks and the preterm premature rupture of the membranes <34 weeks' gestation according to type of invasive procedure and to sampling techniques in twins. STUDY DESIGN: Retrospective cohort study of 204 twin pregnancies, who underwent amniocentesis (100) or chorionic villus sampling (104). RESULTS: Fetal loss rate <4 weeks was 3.85% in chorionic villus sampling group and 4.00% in amniocentesis group (P value not significant). According to sampling technique, fetal loss rate was 4.17% (chorionic villus sampling 1 puncture), 2.70% (amniocentesis 1 puncture), 3.75% (chorionic villus sampling 2 punctures), and 4.76% (amniocentesis 2 punctures), (P values not significant). Preterm premature rupture of the membranes rate <34 weeks was 8.2% chorionic villus sampling group and 10% in amniocentesis group (P value not significant). According to sampling technique, preterm premature rupture of the membranes rate was 12.5% (chorionic villus sampling 1 puncture), 8.1% (amniocentesis 1 puncture), 6.9% (chorionic villus sampling 2 punctures), and 11.1 % (amniocentesis 2 punctures), (P values not significant). CONCLUSION: Double entry technique does not affect significantly the outcomes evaluated, in both amniocentesis and chorionic villus sampling.

Frequent loss of expression of the cyclin-dependent kinase inhibitor p27(Kip1) in estrogen-related Endometrial adenocarcinomas.

PURPOSE: p27(Kip1) is a member of the Cip1/Kip1 family of cyclin-dependent kinase inhibitors and is a potential tumor suppressor gene. Low levels of p27 are associated with poor prognosis in a variety of gynecological tumors, including breast, ovarian, and cervical carcinomas. The role of p27 in endometrial cancer remains controversial. EXPERIMENTAL DESIGN: In the present study, p27 protein expression was investigated by immunohistochemistry in a series of 217 endometrial adenocarcinomas and, where present, in synchronous normal endometrium, simple and complex hyperplasia (with or without atypia), and cystic atrophy. The relationship between p27 expression and clinical outcome was also evaluated. RESULTS: Immunohistochemical analysis revealed a significant loss of p27 expression from normal (33%) through hyperplastic endometrium (50%) to endometrial adenocarcinomas (71%; P

Prognostic value of pelvic lymphadenectomy in surgical treatment of apparent stage I endometrial cancer.

BACKGROUND: The role of pelvic lymphadenectomy in early endometrial carcinoma is still being debated. MATERIALS AND METHODS: We retrospectively analyzed a total of 131 patients with FIGO stage I endometrial cancer undergoing surgery without (Group 1) or with (Group 2) pelvic lymphadenectomy. Kaplan-Meier and Cox analyses were used to calculate crude and adjusted survival rates. Moreover, the overlap of pre- and post-surgical staging was analyzed. RESULTS: Overall survival rate at 5 years was 90.1%. The difference in crude survival rates of the two groups is not statistically significant (p-value= 0.3777, log rank test). Five patients of Group 2 presented positive pelvic nodes. Therefore our results showed a pre-surgical understaging, referring to nodal involvement, in 9.1% of cases (5/55). CONCLUSION: Pelvic lymphadenectomy is a useful procedure for prognostic and staging purposes, but does not improve survival in FIGO stage I endometrial carcinoma.

Delivery and immigration: the experience of an Italian hospital.

OBJECTIVE: We studied mode of delivery and prevalence of complications in pregnant women from the western world (WW) and immigrant mothers from non European Union (non-EU) countries at a third level Italian Obstetric Department. STUDY DESIGN: The study was population based and used data from the local Birth Registry at the University of Bologna. A 1:1 case control was performed by matching 510 single live births from immigrant mothers (non-EU) during the period 1997-2001 with 510 controls in chronological order (WW). Data were matched by age and parity. RESULTS: No differences between the two groups were noted as concerns preterm delivery, percentage of infants transferred to neonatal intensive care unit, perinatal mortality, caesarean section rate, episiotomies, instrumental deliveries and post-partum complications. Significant differences were noted in the rate of elective caesarean section (which was higher in the WW women: P < 0.01) and in the rate of vaginal lacerations and neonatal malformations (which was higher in the non-EU group: P < 0.05). CONCLUSIONS: There was no substantial variation in the mode of delivery between non-EU immigrants and western women; only the rate of elective caesarean section was significantly higher in the WW group. A higher rate of vaginal lacerations and neonatal malformations was found in the non-EU group. In our experience the standard of medical care is achievable regardless of ethnic group.

The treatment of hypertension in pregnancy.

The hypertensive disease that occurs during pregnancy is a multifaceted clinical condition whose accurate diagnosis, not limited to the evaluation of degree of the hypertensive derangement, is crucial for a correct therapeutic approach. In particular, chronic hypertension pre-existing before pregnancy should be clearly differentiated from the hypertensive disease induced by pregnancy and particularly from pre-eclampsia. Non-pharmacological measures of intervention have not been proven to improve both maternal and fetal outcome. Severe hypertension during pregnancy (blood pressure > 170/110 mmHg) should be immediately treated with drugs that have been proven to prolong pregnancy and to improve both maternal and fetal outcome. In patients with mild to moderate hypertension, both chronic and pregnancy induced, antihypertensive treatment improves the maternal outcome, whereas no clear-cut evidence of benefit have been reported at the fetal level. Among the different antihypertensive drugs that have been reported to be effective, safe and well tolerated during pregnancy, methyldopa, beta-blockers and particularly calcium channel blockers (nifedipine) represent the more suitable solution.

Vaginal cuff dehiscence after hysterectomy: a multicenter retrospective study.

OBJECTIVE: This study estimates the incidence of vaginal cuff dehiscence resulting from different approaches to hysterectomy. STUDY DESIGN: This multicentric study was carried out retrospectively. We retrospectively analyzed 8635 patients; 37% underwent abdominal hysterectomy, 31.2% vaginal hysterectomy, and 31.8% laparoscopic hysterectomy. All the hysterectomies were considered, vaginal evisceration was registered and analyzed for time of onset, trigger event, presenting symptoms, details of prolapsed organs and type of repair surgery. Continuous variables were compared using the one-way analysis of variance between groups as all data followed a Gaussian distribution, as confirmed by the Kolmogorov-Smirnov test. Differences among subgroups were assessed using the Tukey-Kramer multiple comparisons test. Categorical variables were compared with two tailed Chi-square tests with Yates correction or Fisher's exact test, as appropriate. Pearson's linear correlation was used to verify linear relationships between the dehiscence interval and patient's age at surgery. RESULTS: Thirty-four patients (0.39%) experienced vaginal evisceration. The laparoscopic route was associated with a significantly higher incidence of dehiscence (p<0.05). No differences were found between the 6027 patients (69.8%) who had closure of the vaginal cuff and the 2608 (30.2%) who had an unclosed cuff closure technique. CONCLUSION: Vaginal evisceration after hysterectomy is a rare gynecological surgical complication. Sexual intercourse before the complete healing of the vaginal cuff is the main trigger event in young patients, while evisceration presents as a spontaneous event in elderly patients. Surgical repair can be performed either vaginally or laparoscopically with similar outcomes.

Mild mental retardation in a child with a de novo interstitial deletion of 15q21.2q22.1: a comparison with previously described cases.

We report on a child with mild mental retardation, hypotelorism, blepharophimosis, face slight asymmetry and partial hypoplasia of corpus callosum, with an interstitial deletion of a chromosome 15. The deletion was molecularly characterized by array-CGH and FISH techniques. This rearrangement has a 7.18Mb extension and maps to 15q21.2q22.1. To date, there have been only six individuals reported with a deletion of 15q21; in three cases, the rearrangement was characterized by molecular cytogenetic techniques. After a comparison with these three cases, it appeared that the deletion we found is one of the smallest and it overlaps the distal portion of the ones taken into account. Finally, we tried to delineate the genotype-phenotype correlation in patients with a deletion of 15q21.

Transient bowel ischaemia of the fetus.

OBJECTIVE: To discover the different underlying conditions in 2 fetuses suffering from temporary bowel ischaemia. METHODS: Abnormal bowel findings were detected using antenatal sonography. RESULTS: The abnormal bowel findings disappeared postnatally. Transient ischaemia of the fetal bowel due to different causes has been advocated antenatally to explain the abnormal findings. When a normal blood supply to the bowel has been restored, either in utero or after birth, the abnormal findings disappear. CONCLUSIONS: Whenever gut dilatation is detected in a fetus at risk of bowel ischaemia the possibility of a transient functional finding must be considered.

Ultrasound screening for congenital pyelectasis in term pregnancies.

The purpose of this study was to compare the role of antenatal ultrasound screening for congenital pyelectasis at term with postnatal screening. An ultrasonographic prospective study of 231 fetuses of low-risk pregnancies was performed, evaluating the renal pelvis at term (38 to 42 weeks gestation) and after birth (first and third months of life). Cut-off points used were 9 mm antenatally, and 10 and 12 mm, respectively postnatally, all in an anteroposterior view. A sensitivity of 20% and a specificity of 93.4% was obtained when comparing the antenatal versus the third-month scan, whereas when we compared the sonograms from the first versus the third month of life, we found a sensitivity of 60% and a specificity of 89.7%, with a positive predictive value of 14.7% in the first case and 25% in the second case. A p value < 0.001 was obtained when comparing the sensitivities; a p value of 0.2 was reported when comparing the specificities. Data on a comparative screening of the renal pelvis measured antenatally at term and postnatally do not exist. Although it is extremely feasible, the measurement of the fetal renal pelvis during the routine ultrasound scan at term of gestation seems of no benefit in terms of sensitivity and positive predictive values in identifying infants affected by congenital pyelectasis. Because of the low values of sensitivity obtained in our study, a screening program for the renal pelvis dilation both in fetuses and newborns cannot be recommended.

Prenatal imaging of facial clefts by magnetic resonance imaging with emphasis on the posterior palate.

OBJECTIVE: To evaluate the role of Magnetic Resonance Imaging (MRI) in the prenatal diagnosis of facial clefts. MATERIALS AND METHODS: Six fetuses with a sonographic diagnosis of cleft lip and palate underwent MRI at a median age of 30 weeks (range 28-32). The defect was bilateral in two cases. RESULTS: Fetal MRI confirmed the presence of a cleft involving at least the anterior palate in all cases. Distinction between unilateral and bilateral clefts could be made in all cases and was always confirmed after birth. Sagittal views of the fetal face were found to be particularly useful in identifying the degree of extension of the cleft into the palate. The diagnosis was confirmed after birth. CONCLUSION: Our results suggest that MRI may be ancillary to ultrasound in prenatal investigation of a fetus with cleft lip, allowing a better staging of the lesion by demonstrating the degree of involvement of the palate.

Cell-free fetal DNA concentration in plasma of patients with abnormal uterine artery Doppler waveform and intrauterine growth restriction--a pilot study.

OBJECTIVE: To evaluate if an increased amount of fetal DNA concentration can be found in women screened positive for intrauterine growth restriction because of abnormal uterine artery Doppler waveforms. METHODS: We enrolled eight pregnant women (each bearing a male fetus), with the evidence of abnormal uterine artery Doppler waveforms, and 16 control patients for a case-control study matched for gestational age (1 : 2). Uterine artery Doppler was carried out at 20 to 35 weeks' gestation (median 29). The mean uterine artery resistance index (RI) was subsequently calculated, and a value >0.6 was considered positive for the clinical features of pre-eclampsia. The SRY locus was used to determine the amount of male fetal DNA in the maternal plasma at the time of Doppler analysis. RESULTS: Two controls (normal Doppler) were excluded from the final analysis because they had a pre-term delivery. One case (abnormal Doppler) had evidence of intrauterine growth restriction at the time of enrolment. In four out of eight cases (abnormal Doppler), intrauterine growth restriction was subsequently observed. Multiples of median (MoM) conversion of the fetal DNA values showed an increase of 1.81 times in the cases when compared to the controls. An increase of 2.16 times was instead observed for the cases with a growth-restricted fetus (5 cases out of 8) in comparison with the controls (14 cases). CONCLUSIONS: In subjects positive to uterine artery Doppler velocimetry analysis (Doppler analysis for pre-eclampsia screening), the fetal DNA concentration is higher than expected, in the absence of any other clinical feature. Since the increase in fetal DNA seems to be related to the presence or to the future development of intrauterine growth restriction, this paper suggests a possible integration between ultrasound and molecular markers for predicting the disease in some cases.

Histopathologic features and risk factors for benignity, hyperplasia, and cancer in endometrial polyps.

OBJECTIVE: The purpose of this study was to determine the rate of benign, hyperplastic, and malignant endometrial polyps and whether clinical data can predict histopathologic outcome. STUDY DESIGN: Five hundred nine patients with endometrial polyps who consecutively underwent hysteroscopic removal of endometrial polyps over 48 months were identified from our gynecologic oncology surgical database. Medical reports provided clinical data. Statistical analysis was performed. RESULTS: Histologically, 358 polyps (70.3%) were benign; 131 polyps (25.7%) had simple or complex endometrial hyperplasia, 16 polyps (3.1%) had hyperplasia with atypia, and 4 polyps (0.8%) were cancerous. Polyps were divided into group A and group B, according to the risk of malignancy (group A, benign; group B, atypical hyperplastic and cancerous). Age, menopause status, and hypertension were associated significantly with group B. CONCLUSION: Endometrial polyps rarely become malignant, but hyperplastic changes are more common. Age, menopause status, and hypertension may increase the risk of premalignant and malignant polyps. To achieve complete removal of the polyp and a reliable histologic analysis, operative hysteroscopy should be offered to symptomatic patients or to patients with risk factors.

Testing normality of fetal DNA concentration in maternal plasma at 10-12 completed weeks' gestation: a preliminary approach to a new marker for genetic screening.

OBJECTIVES: To test the distribution of fetal DNA in maternal plasma expressed as gen/eq in a population of normal pregnancies. METHODS: Peripheral blood samples were obtained from 63 women (85% > or =35 years of age at delivery) bearing a euploid male fetus. Each patient underwent chorionic villus sampling (CVS) for karyotype analysis and/or beta thalassemia screening. Ultrasound scanning was used to determine gestational age. At 10-12 weeks' gestation, a peripheral blood sample was collected followed by CVS. To detect the Y chromosome specific sequences (SRY) quantitative polymerase chain reaction (PCR) analysis was used. Normal distribution of the data was tested by means of the Kolmogorov-Smirnov (KS) test. A Symmetry test (reliability p>0.05) was used to evaluate the reliability of the median. RESULTS: Only after natural logarithmic transformation did the data display a normal distribution. The median value of fetal DNA was 23.3 gen/eq (range 2.08-195), interquartile range 18.57-45.4. A Pearson test showed a significant correlation between gestational age and fetal DNA concentration (r=0.25, p=0.045). CONCLUSION: The present finding is a preliminary step towards a possible integration of fetal DNA with other variables (biochemical and/or ultrasound). It may serve to improve the discrimination of the screening for genetic diseases in the first trimester. Because of the relatively high dispersion, adjustments for possible covariates would appear to be necessary in further studies.