Angela C. Ranzini

Cell-free DNA Analysis for Noninvasive Examination of Trisomy

BACKGROUND Cell-free DNA (cfDNA) testing for fetal trisomy is highly effective among high-risk women. However, there have been few direct, well-powered studies comparing cfDNA testing with standard screening during the first trimester in routine prenatal populations. METHODS In this prospective, multicenter, blinded study conducted at 35 international centers, we assigned pregnant women presenting for aneuploidy screening at 10 to 14 weeks of gestation to undergo both standard screening (with measurement of nuchal translucency and biochemical analytes) and cfDNA testing. Participants received the results of standard screening; the results of cfDNA testing were blinded. Determination of the birth outcome was based on diagnostic genetic testing or newborn examination. The primary outcome was the area under the receiver-operating-characteristic curve (AUC) for trisomy 21 (Downs syndrome) with cfDNA testing versus standard screening. We also evaluated cfDNA testing and standard screening to assess the risk of trisomies 18 and 13. RESULTS Of 18,955 women who were enrolled, results from 15,841 were available for analysis. The mean maternal age was 30.7 years, and the mean gestational age at testing was 12.5 weeks. The AUC for trisomy 21 was 0.999 for cfDNA testing and 0.958 for standard screening (P=0.001). Trisomy 21 was detected in 38 of 38 women (100%; 95% confidence interval [CI], 90.7 to 100) in the cfDNA-testing group, as compared with 30 of 38 women (78.9%; 95% CI, 62.7 to 90.4) in the standard-screening group (P=0.008). False positive rates were 0.06% (95% CI, 0.03 to 0.11) in the cfDNA group and 5.4% (95% CI, 5.1 to 5.8) in the standard-screening group (P<0.001). The positive predictive value for cfDNA testing was 80.9% (95% CI, 66.7 to 90.9), as compared with 3.4% (95% CI, 2.3 to 4.8) for standard screening (P<0.001). CONCLUSIONS In this large, routine prenatal-screening population, cfDNA testing for trisomy 21 had higher sensitivity, a lower false positive rate, and higher positive predictive value than did standard screening with the measurement of nuchal translucency and biochemical analytes. (Funded by Ariosa Diagnostics and Perinatal Quality Foundation; NEXT ClinicalTrials.gov number, NCT01511458.).

Ultrasonography of the fetal thyroid : Nomograms based on biparietal diameter and gestational age

To describe gestational age‐dependent and ‐independent nomograms for fetal thyroid size.

The prenatal ultrasonographic visualization of imperforate anus in monoamniotic twins.

4023, 1994 16. Brock DJH: Prenatal diagnosis of cystic fibrosis. Ju Rodeck CH, Nicolaides KH (Eds): Prenatal Diagnosis. New York, John Wiley & Sons, 1985, p 159

Comparison of three sonographic circumference measurement techniques to predict birth weight

OBJECTIVE To compare the accuracy of three different sonographic circumference measurement techniques in predicting birth weight in term fetuses, using a standard equation for estimating fetal weight. METHODS Fifty-three singleton, term fetuses were examined sonographically within 24 hours of scheduled elective cesarean delivery. The biparietal diameter (BPD) and femur length (FL) were measured using standard techniques, and head circumference (HC) and abdominal circumference (AC) were measured using three separate circumference measurement techniques (Two-diameter, ellipse, and trace). With the use of each circumference method, estimated fetal weights were determined for each fetus according to a weight-estimation formula incorporating BPD, HC, AC, and FL. The accuracy of the formula using each circumference measurement technique for predicting actual birth weight was calculated. RESULTS The mean (+/- standard deviation [SD]) gestational age was 38.1 +/- 0.9 weeks and the mean actual birth weight was 3536 +/- 472 g. The two-diameter and ellipse circumference measurements allowed more accurate birth weight prediction than did the trace method, with mean (+/- SD) percent deviations from the actual birth weight of -0.5 +/- 7.8%, 1.9 +/- 8.0%, and 8.2 +/- 11.6% (P < .05), respectively. The trace method was the least accurate, with a mean birth weight overestimation of 266 g and measurements within 10% of the actual birth weight only 49.1% of the time. The two-diameter and ellipse method yielded predicted birth weights within 10% of actual birth weights in 77.4 and 79.2% of cases, respectively. CONCLUSION Two-diameter and ellipse circumference measurement techniques are similarly accurate in predicting birth weight and both are significantly better than the trace technique.

PRENATAL SONOGRAPHIC DIAGNOSIS OF MID SHAFT HYPOSPADIAS

We report the prenatal diagnosis of mid shaft hypospadias and describe the sonographic features of fetal hypospadias including an abnormal urethral canal, ventral curvature of the distal penis, extension of the penile glans beyond the prepuce, and fetal micturation in a plane perpendicular to the penile shaft. An accurate family history is an essential part of the evaluation of the milder degrees of fetal hypospadias.

Puerperal Psychosis Mimicking Eclampsia

Puerperal psychosis occurs after delivery in 1-2/1,000 births. It usually presents after delivery, however, it also may present in the antepartum period. We report the third case which presented prior to delivery without a preceding history of maternal puerperal psychosis and the first which presented with catatonia and symptoms of eclampsia. Although uncommon, the first presentation of psychosis during pregnancy should be considered part of the differential diagnosis in pregnant patients presenting with altered mental status after organic causes are excluded.