Performance of IOTA Simple Rules, Simple Rules risk assessment, ADNEX model and O-RADS in differentiating between benign and malignant adnexal lesions in North American women.

OBJECTIVES: To apply the International Ovarian Tumor Analysis (IOTA) Simple Rules (SR), the IOTA Simple Rules risk assessment (SRR), the IOTA Assessment of Different NEoplasias in the adneXa (ADNEX) model and the Ovarian-Adnexal Reporting and Data System (O-RADS) in the same cohort of North American patients and to compare their performance in preoperative discrimination between benign and malignant adnexal lesions. METHODS: This was a single-center diagnostic accuracy study, performed between March 2018 and February 2021, which included 150 women with an adnexal lesion. Using the ADNEX model, lesions were classified prospectively, whereas the SR, SRR assessment and O-RADS were applied retrospectively. Surgery with histological analysis was performed within 6 months of the ultrasound exam. Sensitivity and specificity were determined for each testing modality and the performance of the different modalities was compared. RESULTS: Of the 150 women, 110 (73.3%) had a benign ovarian tumor and 40 (26.7%) had a malignant tumor. The mean risk of malignancy generated by the ADNEX model without CA 125 was significantly higher in malignant vs benign lesions (63.3% vs 11.8%) and the area under the receiver-operating-characteristics curve (AUC) of the ADNEX model for differentiating between benign and malignant adnexal masses at the time of ultrasound examination was 0.937. The mean risk of malignancy generated by SRR assessment was also significantly higher in malignant vs benign lesions (74.1% vs 15.9%) and the AUC was 0.941. To compare the ADNEX model, SRR assessment and O-RADS, the malignancy risk threshold was set at ≥ 10%. This cut-off differentiates O-RADS low-risk categories (Category ≤ 3) from intermediate-to-high-risk categories (Categories 4 and 5). At this cut-off, the sensitivity of the ADNEX model was 97.5% (95% CI, 85.3%-99.9%) and the specificity was 63.6% (95% CI, 53.9%-72.4%), and, for the SRR model, the sensitivity was 100% (95% CI, 89.1%-100%) and the specificity was 51.8% (95% CI, 42.1%-61.4%). In the 113 cases to which the SR could be applied, the sensitivity was 100% (95% CI, 81.5%-100%) and the specificity was 95.6% (95% CI, 88.5%-98.6%). If the remaining 37 cases, which were inconclusive under SR, were designated 'malignant', the sensitivity remained at 100% but the specificity was reduced to 79.1% (95% CI, 70.1%-86.0%). The 150 cases fell into the following O-RADS categories: 17 (11.3%) lesions in Category 2, 34 (22.7%) in Category 3, 66 (44.0%) in Category 4 and 33 (22.0%) in Category 5. There were no histologically proven malignant lesions in Category 2 or 3. There were 14 malignant lesions in Category 4 and 26 in Category 5. The sensitivity of O-RADS using a malignancy risk threshold of ≥ 10% was 100% (95% CI, 89.1%-100.0%) and the specificity was 46.4% (95% CI, 36.9%-56.1%). CONCLUSIONS: When IOTA terms and techniques are used, the performance of IOTA models in a North American patient population is in line with published IOTA results in other populations. The IOTA SR, SRR assessment and ADNEX model and O-RADS have similar sensitivity in the preoperative discrimination of malignant from benign pelvic tumors; however, the IOTA models have higher specificity and the algorithm does not require the use of magnetic resonance imaging. © 2022 International Society of Ultrasound in Obstetrics and Gynecology.

Cell-free fetal DNA screening in the USA: a cost analysis of screening strategies.

OBJECTIVES: To determine whether implementation of primary cell-free fetal DNA (cffDNA) screening would be cost-effective in the USA and to evaluate potential lower-cost alternatives. METHODS: Three strategies to screen for trisomy 21 were evaluated using decision tree analysis: 1) a primary strategy in which cffDNA screening was offered to all patients, 2) a contingent strategy in which cffDNA screening was offered only to patients who were high risk on traditional first-trimester screening and 3) a hybrid strategy in which cffDNA screening was offered to all patients ≥ 35 years of age and only to patients < 35 years who were high risk after first-trimester screening. Four traditional screening protocols were evaluated, each assessing nuchal translucency (NT) and pregnancy-associated plasma protein-A (PAPP-A) along with either free or total beta-human chorionic gonadotropin (ß-hCG), with or without nasal bone (NB) assessment. RESULTS: Utilizing a primary cffDNA screening strategy, the cost per patient was 1017 US$. With a traditional screening protocol using free ß-hCG, PAPP-A and NT assessment as part of a hybrid screening strategy, a contingent strategy with a 1/300 cut-off and a contingent strategy with a 1/1000 cut-off, the cost per patient was 474, 430 and 409 US$, respectively. Findings were similar using the other traditional screening protocols. Marginal cost per viable case detected for the primary screening strategy as compared to the other strategies was 3-16 times greater than the cost of care for a missed case. CONCLUSIONS: Primary cffDNA screening is not currently a cost-effective strategy. The contingent strategy was the lowest-cost alternative, especially with a risk cut-off of 1/1000. The hybrid strategy, although less costly than primary cffDNA screening, was more costly than the contingent strategy.

Comparison of three methods of cervical measurement in the first trimester: single-line, two-line, and tracing.

OBJECTIVES: To compare three methods of cervical length measurements using ultrasound in the first trimester: single-line, two-line, and tracing. METHODS: Images appropriate for cervical length measurements were obtained using transvaginal ultrasound between 11 + 0 and 13 + 6 weeks' gestation. The cervix was measured on stored images using three methods: a single straight line, two segments (two-line method), and by tracing the distance along the cervical canal. Results were compared for intraoperator repeatability and interoperator variability. The degree of the cervical curvature was measured. RESULTS: The mean cervical measurement using the single-line measurement was 32.8 (SD 4.4) mm. The mean cervical length was essentially the same using the two-line and tracing measurement: 34.4 (SD 4.7) mm and 34.5 (SD 4.7) mm, respectively. Both intra- and interoperator agreement was high. The degree of curvature of the cervical canal was variable, with a resultant variability in the difference between the single straight line measurement and the other two types of measurement. CONCLUSIONS: Using stored images, each of the measurement techniques is highly reproducible. Both the two-line and the tracing methods yield larger measurements than the single-line technique. Therefore, it appears that in select cases the straight line measurement significantly underestimates the actual cervical length.

Screening at 11-13+6 weeks' gestation.

Ultrasound examination of the conceptus and the uterine blood supply between 11 and 13 weeks' gestation provides important information about the state of the pregnancy at that point in time and about its future progress. Nuchal translucency measurement in conjunction with maternal serum markers (free-beta-human chorionic gonadotropin and pregnancy-associated plasma protein-A), has been shown to be a highly effective method for screening for aneuploidy. This is further improved by the addition of other more recently discovered first trimester ultrasound markers resulting in detection rates that exceed 90% with a false positive rate of 2.5%. Many fetal structural anomalies can be detected at this gestational age. Recently described first trimester evaluation of the posterior brain (intracranial translucency (IT)) provides an effective screening tool for the presence of open neural tube defects. Doppler measurement of the pulsatility index in the uterine arteries in conjunction with maternal history and examination as well as maternal serum biochemistries helps to accurately establish the risk of developing preeclampsia.

Nasal bone assessment in prenatal screening for trisomy 21.

A small nose is a common facial feature of individuals with trisomy 21. Evidence based on radiologic, histomorphologic, and sonographic studies shows that nasal bone abnormalities are significantly more common in trisomy 21 fetuses than in euploid fetuses. These abnormalities, which include both nasal bone absence and short nasal bone length, can be detected by prenatal ultrasound. In this article we review the evidence and discuss the potential value of assessment of the fetal nasal bone in screening for trisomy 21.

Nasal bone length throughout gestation: normal ranges based on 3537 fetal ultrasound measurements.

OBJECTIVE: To establish normal ranges for nasal bone length measurements throughout gestation and to compare measurements in two subsets of patients of different race (African-American vs. Caucasian) to determine whether a different normal range should be used in these populations. METHOD: Normal nasal bone length reference ranges were generated using prenatal measurements by a standardized technique in 3537 fetuses. RESULTS: The nasal bone lengths were found to correlate positively with advancing gestation (R(2) = 0.77, second-order polynomial). No statistical difference was found between African-American and Caucasian subjects. CONCLUSION: These reference ranges may prove to be useful in prenatal screening and diagnosis of syndromes known to be associated with nasal hypoplasia. Different normal ranges for African-American and Caucasian women are not required.

Nasal bone hypoplasia in trisomy 21 at 15-22 weeks' gestation.

OBJECTIVE: To investigate the potential value of ultrasound examination of the fetal profile for present/hypoplastic fetal nasal bone at 15-22 weeks' gestation as a marker for trisomy 21. METHODS: This was an observational ultrasound study in 1046 singleton pregnancies undergoing amniocentesis for fetal karyotyping at 15-22 (median, 17) weeks' gestation. Immediately before amniocentesis the fetal profile was examined to determine if the nasal bone was present or hypoplastic (absent or shorter than 2.5 mm). The incidence of nasal hypoplasia in the trisomy 21 and the chromosomally normal fetuses was determined and the likelihood ratio for trisomy 21 for nasal hypoplasia was calculated. RESULTS: All fetuses were successfully examined for the presence of the nasal bone. The nasal bone was hypoplastic in 21/34 (61.8%) fetuses with trisomy 21, in 12/982 (1.2%) chromosomally normal fetuses and in 1/30 (3.3%) fetuses with other chromosomal defects. In 3/21 (14.3%) trisomy 21 fetuses with nasal hypoplasia there were no other abnormal ultrasound findings. In the chromosomally normal group hypoplastic nasal bone was found in 0.5% of Caucasians and in 8.8% of Afro-Caribbeans. The likelihood ratio for trisomy 21 for hypoplastic nasal bone was 50.5 (95% CI 27.1-92.7) and for present nasal bone it was 0.38 (95% CI 0.24-0.56). CONCLUSION: Nasal bone hypoplasia at the 15-22-week scan is associated with a high risk for trisomy 21 and it is a highly sensitive and specific marker for this chromosomal abnormality.

Spontaneous regression of a large intrathoracic fetal lesion before birth.

All fetal intrapulmonary lesions diagnosed antenatally reported in the literature to date have persisted as an ultrasound finding for the remainder of the pregnancy, although spontaneous improvement in utero has been reported recently. We describe a case of a large intrathoracic lesion diagnosed at 24 weeks' gestation by ultrasound that became indistinguishable from the rest of the lungs as the pregnancy approached term. Although the frequency with which this process occurs cannot yet be assessed, the possibility of significant spontaneous regression must now be considered when counseling the parents on an affected fetus.

Measurement of cervical length in pregnancy: comparison between vaginal ultrasonography and digital examination.

Evaluation of the gravid cervix uteri is an important part of prenatal care, especially in the patient at risk for preterm birth. Seeking a method of cervical length measurement that could be used easily regardless of patient habitus, location of the cervix, and gestational age, we used a vaginal probe with a 240 degrees scanning angle in gravidas at various gestational ages to test the theoretical advantages of the wide scanning angle. Among the first 201 examinations, cervical length was measured successfully in 99.5% of cases. This success rate compares favorably with those of abdominal sonography and vaginal sonography using the standard 90 degrees scanning angle sector probes. We also compared this method with digital examination in a double-blind fashion. Only a fair degree of association between sonographic cervical measurements and measurements obtained by digital examination was found, reflected in a correlation coefficient of 0.49.

Antenatal diagnosis of sacral agenesis syndrome in a pregnancy complicated by diabetes mellitus.

The sacral agenesis syndrome is a severe congenital abnormality consisting of agenesis of the lumbar spine, sacrum, and coccyx, as well as hypoplasia of the lower extremities. It is considered the most characteristic of all congenital anomalies associated with maternal diabetes mellitus. We describe the sonographic and radiologic findings of agenesis of the lumbosacrococcygeal spine with lower limb and genital hypoplasia in the offspring of a woman with both diabetic retinopathy and nephropathy. The diagnosis was established at 25 weeks' gestation and was confirmed by radiologic evaluation of the neonate.

Spontaneous rupture of uteroovarian veins in pregnancy: two case reports.

Two cases of acute spontaneous rupture of uterine ovarian veins during the third trimester of pregnancy are reported. This condition has an obscure etiology and a relatively infrequent incidence and has been associated in the past with very high maternal and fetal mortality. The clinician is faced with both a puzzling diagnostic dilemma and a perplexing management scheme.