The "cortical invagination sign": a midtrimester sonographic marker of unilateral cortical focal dysgyria in fetuses with complete agenesis of the corpus callosum.

BACKGROUND: Agenesis of the corpus callosum is associated with several malformations of cortical development. Recently, features of focal cortical dysgyria have been described in fetuses with agenesis of the corpus callosum. OBJECTIVE: This study aimed to describe the "cortical invagination sign," a specific sonographic feature of focal cortical dysgyria, which is consistently seen at midtrimester axial brain ultrasound in fetuses with complete agenesis of the corpus callosum. STUDY DESIGN: This was a retrospective analysis of prospectively collected data from 2018 to 2021, including patients referred to 5 fetal medicine centers in the second trimester of pregnancy (19 0/7 to 22 0/7 weeks of gestation) with suspected complete agenesis of the corpus callosum. All cases with the diagnosis of complete agenesis of the corpus callosum were submitted to an axial sonographic assessment of the fetal brain on the transventricular plane. In this scanning section, the mesial profile of both cerebral hemispheres at the level of the frontal-parietal cortex was investigated. In this area, the operator looked for an abnormal invagination of the cortical surface along the widened interhemispheric fissure, which was referred to as the "cortical invagination sign." All fetuses were submitted to dedicated antenatal magnetic resonance imaging to reassess the ultrasound findings. Cases with additional brain anomalies, which did not involve the cortex, were excluded. The final diagnosis was confirmed at postnatal brain magnetic resonance imaging or postmortem examination, for cases undergoing termination of pregnancy. The primary outcome of this study was to evaluate the presence and laterality of the "cortical invagination sign" in fetuses with complete agenesis of the corpus callosum at antenatal ultrasound and magnetic resonance imaging. RESULTS: During the study period, 64 cases of complete agenesis of the corpus callosum were included; of those cases, 50 (78.1%) resulted in termination of pregnancy, and 14 (21.9%) resulted in a live birth. The "cortical invagination sign" was detected at ultrasound in 13 of 64 cases (20.3%) and at targeted brain magnetic resonance imaging in 2 additional cases (23.4%), all of which were electively terminated. Moreover, the "cortical invagination sign" was found to be exclusively unilateral and on the left cerebral hemisphere in all the cases. There was a predominant number, although nonsignificant, of male fetuses (80.0% of cases; P=.06) in the group of complete agenesis of the corpus callosum with the "cortical invagination sign." CONCLUSION: The "cortical invagination sign" is a specific marker of focal cortical dysgyria, which seems to characterize at midtrimester of pregnancy in a large group of fetuses with complete agenesis of the corpus callosum. The etiology, pathophysiology, and prognostic significance of this finding remain to be elucidated.

Monochorionic twins with discordant trisomy 21, another case to remind this uncommon condition and how to deal with.

Monozygotic twins discordant for trisomy 21 are rare. We present the twelfth reported case of this uncommon condition undergoing invasive prenatal diagnosis. Dealing with discordant fetal anomalies in monochorionic pregnancy can be challenging for physicians and patients; pros and cons of different invasive procedure options must be discussed with the couple, contending with certain specific peculiarities of this type of pregnancy. Although chorionic villi sampling can be performed earlier, higher risk of misdiagnosis of discordant aneuploidy is reported. Indeed, when heterokaryotic twins are suspected, a two-sampling amniocentesis is recommended, to ensure independent sampling of each fetus and to rule out confined placental mosaicism as well. The couple should be informed of the possible management and the risks for the non-affected twin whether selective reduction is required, and likewise if the pregnancy continues without selective termination.

The sonographic measurement of the ratio between the fetal head circumference and the obstetrical conjugate is accurate in predicting the risk of labor arrest: results from a multicenter prospective study.

BACKGROUND: Labor arrest is estimated to account for approximately one-third of all primary cesarean deliveries, and is associated with an increased risk of adverse maternal and perinatal outcomes. One of the main causes is the mismatch between the size of the birth canal and that of the fetus, a condition usually referred to as cephalopelvic disproportion. OBJECTIVE: This study aimed to describe a new ultrasound predictor of labor arrest leading to cesarean delivery because of suspected cephalopelvic disproportion. STUDY DESIGN: This was a multicenter prospective study conducted at 3 maternity units from January 2021 to January 2022. A nonconsecutive series of singleton pregnancies with cephalic-presenting fetuses, gestational age of 34 weeks+0 days or above, and no contraindication to vaginal delivery attending at the antenatal clinics of each institution were considered eligible. Between 34+0 and 38+0 weeks of gestation, all eligible patients were submitted to transabdominal 2D ultrasound measurement of the obstetrical conjugate. On admission to the labor ward, the fetal head circumference was measured on the standard transthalamic plane by transabdominal ultrasound. The primary outcome of the study was the accuracy of the ratio between the fetal head circumference and the obstetrical conjugate measurement (ie, head circumference/obstetrical conjugate ratio) in predicting the occurrence of cesarean delivery secondary to labor arrest. The secondary outcome was the relationship between the head circumference/obstetrical conjugate ratio and labor duration. RESULTS: A total of 263 women were included. Cesarean delivery for labor arrest was performed in 7.6% (20/263) of the included cases and was associated with more frequent use of epidural analgesia (95.0% vs 45.7%; P<.001), longer second stage of labor (193 [120-240] vs 34.0 [13.8-66.5] minutes; P=.002), shorter obstetrical conjugate (111 [108-114] vs 121 [116-125] mm; P<.001), higher head circumference/obstetrical conjugate ratio (3.2 [3.2-3.35] vs 2.9 [2.8-3.0]; P<.001), and higher birthweight (3678 [3501-3916] vs 3352 [3095-3680] g; P=.003) compared with vaginal delivery. At logistic regression analysis, the head circumference/obstetrical conjugate ratio expressed as Z-score was the only parameter independently associated with risk of cesarean delivery for labor arrest (odds ratio, 8.8; 95% confidence interval, 3.6-21.7) and had higher accuracy in predicting cesarean delivery compared with the accuracy of fetal head circumference and obstetrical conjugate alone, with an area under the curve of 0.91 (95% confidence interval, 81.7-99.5; P<.001). A positive correlation between the head circumference/obstetrical conjugate ratio and length of the second stage of labor was found (Pearson coefficient, 0.16; P=.018). CONCLUSION: Our study, conducted on an unselected low-risk population, demonstrated that the head circumference/obstetrical conjugate ratio is a reliable antenatal predictor of labor arrest leading to cesarean delivery.

Antepartum evaluation of the obstetric conjugate at transabdominal 2D ultrasound: A feasibility study.

INTRODUCTION: The obstetric conjugate represents the shortest anteroposterior diameter of the birth canal and it reflects the capacity of the pelvic inlet to allow the passage and the engagement of the fetal head. The antepartum evaluation of this parameter may be attempted at digital examination to predict the risk of cephalopelvic disproportion, but the accuracy of clinical pelvimetry is notoriously poor. The aim of our study was to describe the sonographic measurement of the obstetric conjugate at transabdominal 2D-ultrasound and to assess its reproducibility. MATERIAL AND METHODS: This is a prospective cohort study conducted at a tertiary University hospital. A non-consecutive series of pregnant women with uncomplicated singleton pregnancies attending the antenatal clinic for routine booking from 34 weeks of gestation onward were included. The ultrasound probe was longitudinally placed above the level of the symphysis and the interpubic fibrocartilaginous disk was visualized. Then the promontory was identified as the most prominent segment of the sacral vertebral column. The obstetric conjugate was measured as the distance between the inner edge of the interpubic disk and the promontory. The inter- and intraobserver repeatability of this measurement was calculated using the intraclass correlation coefficient (ICC) and the Bland-Altman method. RESULTS: In all, 119 women were considered eligible for the study; of these, 111/119 (93.3%) women were included in the analysis with a median gestational age of 36.0 (35.0-37.0) weeks. The mean obstetric conjugate measurement was 11.4 ± 0.93 mm for the first operator and 11.4 ± 0.91 mm for the second operator. The overall interobserver ICC was 0.95 (95% [confidence interval] CI 0.92-0.96) and the overall intraobserver ICC was 0.97 (95% CI 0.96-0.98). Limits of agreement ranged from -0.84 to 0.80 for interobserver measures and from -0.64 to 0.62 for intraobserver measures. The degree of reliability was also analyzed for women with a body mass index ≥30 and for women with a gestational age ≥37 weeks. The inter- and intraobserver ICCs were respectively 0.97 (95% CI 0.90-0.98) and 0.98 (0.95-0.99) in the former group and 0.96 (95% CI 0.93-0.98) and 0.97 (95% CI 0.95-0.98) in the latter group. CONCLUSIONS: Our study demonstrated that among pregnant women at term gestation, sonographic measurement of the obstetric conjugate is feasible and reproducible.