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Objective To assess the clinical relevance of adnexal masses in pregnancy and the usefulness of ultrasound in their management. Design A prospective study on pregnancy complicated by adnexal masses. Setting Department of Obstetrics and Gynaecology in Italy.Population 6636 women with pregnancy in utero followed in our clinic from January 1996 to December 1999.Methods From 1996 to 1999, all ovarian cysts with a diameter exceeding 3 cm were prospectively recorded and followed. The management was expectant except in case of symptoms or suspected malignant features. Cysts suggestive of borderline tumours were treated expectantly. Main outcome measures Clinical relevance of adnexal masses in pregnancy, the outcome of these pregnancies and the usefulness of ultrasound examination in their management. Results We detected 82 cysts in 79 of 6636 women (1.2 in 100 term pregnancies). Sixty-eight women were asymptomatic at the time of diagnosis, whereas 11 (13.9%) were diagnosed because of pain. Diagnosis occurred in the first trimester for 57 cases and in the second or third trimester in 22 (27.8%). One-half of the cysts were simple and anechoic at ultrasound. Fifty-seven had a diameter not exceeding 5 cm. Forty-two cyst resolved in pregnancy without treatment. Three cysts required surgery within few days (torsion). One woman required laparotomy at the 37th week of gestation, due to torsion. When one case of termination was excluded, 78 women delivered at term (66 vaginally, 12 by caesarean section). Nineteen women underwent surgery after pregnancy. We recorded three Stage Ia borderline tumours, accounting for 3/82 cysts (3.6%) and 3/30 persisting masses (10%). Conclusions Ultrasound allows definition of ovarian cysts in pregnancy and this positively impacts on management. The incidence of cancer among persistent masses is lower than previously reported. Acute complications in stable cysts are extremely uncommon after the first trimester. An expectant management is successful in the majority of cases and should be considered more often. Routine removal of persistent cysts is not justified.

Transient myeloproliferative disorders can be associated with hydrops in Down syndrome fetuses. No cases of prenatal management of such a condition have been reported in the literature. We report a case of myeloproliferative disorder diagnosed by cordocentesis at 31 weeks in a Down syndrome fetus with pericardial effusion. A pericardiocentesis was performed at the first signs of hydrops and successfully improved fetal cardiac function, allowing for continuation of pregnancy.

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We conducted a study to evaluate the feasibility and benefits of transabdominal amnioinfusion in preterm premature rupture of membranes with persistent oligohydramnios for the prevention of pulmonary hypoplasia. To this purpose, we designed a cohort study in which the pregnancy outcome of women with rupture of membranes at < or = 25 weeks and persistent (> or = 4 days) oligohydramnios managed with serial amnioinfusions (n = 18) was compared with that of a historic cohort group (controls) with similar characteristics but managed expectantly (n = 16). Pulmonary hypoplasia was diagnosed at birth in the presence of strict radiological and pathological criteria. No amnioinfusion-related complications occurred. The prevalence of pulmonary hypoplasia was significantly lower among the amnioinfused cases compared with the controls (46% [6 of 13] vs 86% [12 of 14], odds ratio [OR] = 0.4, 95% confidence interval [CI] 0.2-0.9), despite a lower gestational age at rupture of membranes in the treated group. Within the group undergoing amnioinfusions, those in which the infused solution was rapidly lost had a higher rate of pulmonary hypoplasia compared with those in which amnioinfusion alleviated oligohydramnios for > 48 hours (considered successful) (0 of 4 vs. 6 of 9, OR = 2.3, 95% CI 1-5.5). Cases of successful amnioinfusion had a longer interval between membrane rupture and appearance of oligohydramnios than those in which the procedure failed to correct oligohydramnios, even though both groups had similar gestational age at appearance of oligohydramnios. This suggests that the rate of loss of amniotic fluid after membrane rupture may predict the rate of loss of the infused solution, and therefore identify a subset of patients who may benefit from the procedure.

Objective: To assess the accuracy of fluorescent in situ hybridization (FISH) on amniocytes in fetuses affected by structural malformations suggestive of chromosomal anomalies. Methods: FISH of uncultured amniotic fluid cells and conventional cytogenetic analysis were performed on 48 pregnancies with ultrasonographic (US) evidence of fetal anomalies. The AneuVysion^® assay (Vysis) with specific probes for chromosomes 13, 18, 21, X and Y, was used. Amniotic fluid samples were obtained between the 14th and 34th weeks of gestation. Results: In cases with a single abnormal US finding (n = 15), 5 aneuploidies were detected (1 case of trisomy 13 and 4 of trisomy 21). In the group with two or more malformations (n = 33) there were 15 aneuploidies (9 cases of trisomy 18, 2 of trisomy 21, 2 monosomy X, 1 trisomy 13, and 1 triploidy). In this group, conventional cytogenetic analysis revealed two additional chromosomal anomalies not detectable by FISH (1 trisomy 16 mosaic, and a terminal deletion 4p). No sex aneuploidies were observed. Conclusions: The lack of false-positive diagnosis in the FISH analysis in our sample prompts us to consider interphase FISH as a useful tool in pregnancies at high risk for chromosomal aneuploidies. When FISH analysis is normal, the overall risk of chromosomal abnormalities is significantly reduced. However, the finding of two chromosomal anomalies undetectable by AneuVysion^® assay confirms the need for conventional chromosome analysis to complement FISH results. Moreover, the results collected here, in agreement with those already reported in the literature, indicate that FISH analysis on uncultured amniocytes can play an important role in counselling and decision-making, especially in cases at risk for aneuploidies, such as those with structural abnormalities at US.