Comparisons of first and second trimester screening for fetal anomalies.

Four thousand fifty unselected pregnant women bearing a total of 4,078 fetuses were examined by transvaginal sonography (TVS) at 14 weeks of gestational age and rescreened via transabdominal sonography (TAS) at 21 weeks. Fifty-four of 88 anomalies were correctly identified at first scan whereas 34 were not; of these, 24 were discovered at second trimester rescreening, and the remaining 10 were observed later in pregnancy or after birth. The sensitivity of TVS screening with respect to final outcome was 61.4% (54 of 88 malformations in total) and 69.2% in comparison to TAS screening results (54 malformations detected among 78 recognized within 21 weeks). The association between fetal malformation and chromosomal aberrations was also investigated: in our study population there were 21 aneuploidies, 14 of which were recognized because of abnormal findings at the 14 weeks' TVS, 5 at the TAS rescreening, and 2 after birth in neonates free of structural abnormalities.

[Fetal growth in hypertensive women]. / Accrescimento fetale in gravide ipertese.

The Authors examine the correlation between hypertensive disorders of pregnancy and fetal growth. The results of a study of 342 pregnancies, confirm a significant correlation between hypertension and fetal growth retardation. These findings, so evident in moderate and severe hypertension, have also been confirmed in cases of mild hypertension. The medical treatment also in the pregnancies with mild hypertension, and a larger utilisation of operative deliveries, determined a decrease in perinatal mortality and morbidity.

[The diagnostic capacities of transvaginal echography and hysteroscopy in the characterization of endometrial pathology]. / Capacità diagnostica dell'ecografia transvaginale e dell'isteroscopia nella caratterizzazione della patologia endometriale.

The diagnostic accuracy of transvaginal sonography (TVS) and hysteroscopy in the assessment of endometrial pathology was studied comparing retrospectively both methods with the results of histologic findings after dilatation and curettage (D&C) performed in the last four years on 467 patients, 155 of whom were in postmenopause. Endometrial thickness, tissue texture, myometrial invasion and haemodynamic characteristics were studied with TVS. Uterine cavity, endometrial patterns and superficial vascularization were evaluated by hysteroscopy. For the purpose of this study all histologic findings were subdivided to a) normal (206 cases); b) benign lesions (240 cases); c) atypical hyperplasia or adenocarcinoma (21 cases). In our experience hysteroscopy was superior to TVS in detecting endometrial pathology. Both techniques were more sensitive in detecting premalignant and malignant lesions. Considering endometrial thickness evaluated with TVS as a single parameter in patients in postmenopause, we found that the most sensitive cut-off for defining normality was 3 mm; nevertheless, in the group of patients that had an endometrial thickness equal to or less than 3 mm there were 2 cases of malignancy. Therefore, neither TVS nor hysteroscopy are sufficiently reliable to replace curettage in the diagnosis of endometrial pathology.

[The indications for the management of fetuses with choroid plexus cysts]. / Indicazioni per il management dei feti portatori di cisti dei plessi corioidei.

Choroid plexus cysts (CPC) in the fetus are still the subject of considerable debate in the literature. Because of their association with aneuploidy, and especially with trisomy 18, of which they are an ultrasonographic marker, the detection of fetal CPC now poses the problem of how these cases should be managed, since most occur in young women (there being no correlation between CPC and age), and since the incidence among the general population is fairly high (around 1%). With the aim of contributing further to the debate, a retrospective study was performed of all cases of fetal CPC diagnosed in our Centre between January 1984 and August 1994, together with a review of the relevant literature. There were 95 cases of fetal CPC with complete neonatal and necroptic data available. These cases included women recruited in the course of routine screening for congenital malformations carried out in our Centre at 14 and 21 weeks gestation, women referred to us from other Centres, and women recruited in the course of amniocentesis indicated for those aged over 35. In all cases in which fetal CPC was detected, a careful ultrasonographic examination was performed to exclude the presence of even the smallest morphologic anomaly. Whenever the fetus was found to have an anomaly karyotyping was done. If the CPC was not associated with any morphologic anomaly, karyotyping was proposed only to those women at risk of aneuploidy because of their age. There were 11 cases of trisomy 18, all of which presented morphologic anomalies associated with CPC. Some of these anomalies where "minor", however, and therefore difficult to assess even when a careful ultrasonographic examination was performed by an experienced operator (Intra ventricular septal defect, single umbilical artery). In 2 cases, CPC was associated with trisomy 21. Both women were aged over 35. All the other cases of CPC not associated with morphologic anomaly were normal on postnatal examination. From a meta-analysis of the literature, two distinct management protocols emerge for the problem of "isolated CPC detected at ultrasonographic examination". One group of authors recommends karyotyping for all women with fetal CPC, considering the presence of CPC in itself a risk factor for aneuploidy. The second group, to which we ourselves belong, believes it is sufficient to perform a careful ultrasonographic examination so as to exclude the presence of other morphologic anomalies associated with the CPC. Karyotyping should be proposed only to women at risk of aneuploidy because of their age (> 35). A review of the biggest series reported in the literature shows that, of a total of 1670 fetuses with CPC, 94 were trisomy 18. None of the cases of CPC "in isolation" emerged as being associated with this aneuploidy. However, numerous cases of trisomy 18 have been described in which CPC is associated with "minor" morphologic anomalies in the fetus which may be difficult to detect. It is therefore essential to perform a careful ultrasonographic examination in all cases of CPC, preferably in a Centre with specialist knowledge of ultrasonography. If this option is not available, then karyotyping of all women with fetal CPC is clearly advisable.

Pilot screening for fetal malformations: possibilities and limits of transvaginal sonography.

Two thousand and ninety-seven unselected pregnant women bearing 2114 fetuses were examined by transvaginal sonography at 14 weeks of gestational age and rescreened via transabdominal sonography at 21 weeks (excluding those who chose termination of pregnancy). Twenty-five of 47 anomalies were correctly identified at the first scan, 15 malformations were missed and detected only during the scan, two were identified later in pregnancy, and five were identified after birth. Ten of 12 abnormalities were detected correctly on the basis of ultrasonographic findings. Transvaginal sonographic screening for fetal malformation, in our experience, permits the detection of more than 50% of all fetal structural defects and 75% of all aneuploidies early in pregnancy.

Endometrial assessment by transvaginal sonography and histological findings after D & C in women with postmenopausal bleeding.

A total of 149 women with postmenopausal bleeding underwent transvaginal sonography, hysteroscopy and dilatation and curettage in order to study the diagnostic accuracy of several ultrasound parameters in assessing endometrial pathology and to determine the most sensitive cut-off value of endometrial thickness for the exclusion of endometrial lesions. In distinguishing pathological from normal endometrium, transvaginal sonography showed a sensitivity of 69.3%, specificity of 82.7%, positive predictive value of 74.1% and negative predictive value of 72.1%. In detecting premalignant and malignant endometrial pathology, transvaginal sonography showed a sensitivity, specificity, positive predictive value and negative predictive value of 55%, 96.1%, 68.7% and 93.2%, respectively. Considering endometrial thickness as a single parameter, the most sensitive cut-off for defining normality was 4 mm; nevertheless, in the group of patients that had an endometrial thickness less than 4 mm, there was one case of malignancy (sensitivity, 95.2%; specificity, 49.4%; positive predictive value, 57.3%; and negative predictive value, 93.5%). Transvaginal sonography combined evaluation (morphology, thickness and color Doppler) showed a poor diagnostic accuracy in detecting endometrial pathology and in differentiating between endometrial benign lesions, endometrial polyps and adenocarcinoma in women with postmenopausal bleeding. Endometrial thickness evaluated with transvaginal sonography was preferable but not sensitive enough to exclude endometrial pathology.

Screening for fetal anomalies by ultrasound at 14 and 21 weeks.

A prospective study of screening for fetal abnormalities and chromosomal defects was carried out by ultrasound examination at 13-15 weeks of gestation and 20-22 weeks; the first scan was performed transvaginally and the second transabdominally. During a 4-year period (1991-95), 3490 unselected consecutive pregnancies with a total of 3514 fetuses were examined. There were 21 chromosomally abnormal fetuses, including ten with trisomy 21, and, in 19 (90.5%), fetal defects were detected at the first and/or second ultrasound examination. The most effective marker for chromosomal defects was increased nuchal translucency thickness (> or = 4 mm) at the 13-15-week scan, which was present in seven of the ten fetuses with trisomy 21 and in six of the 11 with other chromosomal abnormalities.

Early screening for fetal cardiac anomalies by transvaginal echocardiography in an unselected population: the role of operator experience.

OBJECTIVES: To examine the accuracy of early transvaginal fetal echocardiography performed in an unselected population by operators with different levels of experience and to compare the results with those obtained from a referral population. DESIGN: Prospective study. METHODS: A series of 4785 unselected fetuses and 221 referred fetuses were screened at 13-15 weeks' gestational age by transvaginal echocardiography. For each fetus, visualization of the four-chamber view plus the origin of the great arteries was attempted. Color Doppler imaging was only performed in cases of cardiac malformations already identified by two-dimensional echocardiography. The scans were performed by seven operators with different levels of experience. Reliability was assessed by conventional transabdominal echocardiography at 20-22 weeks, by postnatal follow-up in the first 3 months of life, and/or by autopsy in all cases of termination or fetal death. RESULTS: The rate of complete visualization (four-chamber view plus great arteries) was 47.5% in the unselected population, and 76.9% in the referral population. There were four (0.08%) true positives among the unselected fetuses, and five (2.3%) among referrals, mostly with enlarged nuchal translucency or other malformations. Among the unselected fetuses, nine false negatives were detected by transabdominal echocardiography. Improvement in the operators' ability to recognize cardiac anomalies in unselected population was disappointing and was influenced more by individual approach than by the number of examinations performed. CONCLUSIONS: Early screening for cardiac anomalies among unselected fetuses is ill-advisable. The usefulness of an early approach is confirmed in high risk fetuses or in the presence of enlarged nuchal translucency when performed by expert operators.

Does cervical length at 13-15 weeks' gestation predict preterm delivery in an unselected population?

OBJECTIVE: To assess the role of early mid-trimester cervical length measurement as a predictor of spontaneous preterm birth in an unselected population. METHODS: In this prospective study, unselected, asymptomatic, Caucasian women with singleton pregnancies underwent standardized transvaginal ultrasonographic (TVS) cervical length measurement at 13-15 weeks' gestation as a screening test for preterm delivery (PTD). Women with multiple gestations, iatrogenic PTD, and previous cervical conization were excluded. The primary outcome measures were spontaneous PTD at < 37 and < 34 weeks. The correlation between cervical length and previous obstetric history was evaluated. RESULTS: A total of 2469 patients met the inclusion criteria. The mean gestational age at cervical assessment was 14 + 2 weeks. The mean gestational age at delivery was 40 + 0 weeks. The rate of spontaneous deliveries before 37 weeks' gestation was 1.7%. In 0.2% the delivery occurred before 34 weeks' gestation. The mean +/- standard deviation cervical length for the entire population was 44.2 +/- 5.4 mm. No difference was observed between cervical length in women that delivered at term and those that delivered either before 37 or before 34 weeks' gestation. Previous obstetric history (prior preterm birth, previous miscarriages and terminations, and parity) did not affect cervical length at 14 weeks of gestation. CONCLUSIONS: Performed at 14 weeks' gestation, TVS measurement of the cervical canal length to predict spontaneous PTD is not a reliable screening procedure.

Does amniotic fluid alpha-fetoprotein have diagnostic or prognostic value at the time of second midtrimester genetic amniocentesis?

In order to assess the usefulness of amniotic fluid alpha-fetoprotein (AFP) levels at the time of midtrimester genetic amniocentesis, 4,430 cases were retrospectively studied to compare the high, normal or low AFP values with the karyotype characteristics and fetal anatomy using ultrasound (US) scanning and confirmed by postnatal evaluation or necroscopy in the case of termination of pregnancy. All the cases presenting malformations were correctly diagnosed by US examinations. AFP levels over the 2nd standard deviation (SD) were found in 112 cases (2.52%) and below the 2nd SD in 11 cases (0.24%). The characteristics of these cases are presented and discussed. According to our results, it is concluded that routine assessment of AFP at the time of midtrimester genetic amniocentesis, if coupled with optimal US scanning, is no longer justified.