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Prenatal diagnosis and outcome of fetuses with isolated agenesis of septum pellucidum: cohort study and meta‐analysis
Pasquo, E. DI; Kuleva, M.; Arthuis, C. ...
Ultrasound in obstetrics & gynecology,
February 2022, 2022-Feb, 2022-02-00, 20220201, Volume:
59, Issue:
2
Journal Article
Peer reviewed
ABSTRACT
Objective
To evaluate the postnatal outcome of children with a prenatal diagnosis of apparently isolated agenesis of the septum pellucidum (ASP).
Methods
A retrospective cohort study of ...
cases of prenatally diagnosed ASP followed in two tertiary centers and a meta‐analysis combining data from the cohort study with data from published studies identified in a systematic review were carried out. Only cases with apparently isolated ASP on antenatal ultrasound and/or magnetic resonance imaging and with available postnatal follow‐up data were considered eligible for inclusion. The following outcomes were analyzed: incidence of chromosomal anomalies, agreement between antenatal and postnatal findings, overall incidence of septo‐optic dysplasia (SOD) and incidence of major neurological disability (motor, language, coordination or behavioral disorder or epilepsy) in non‐SOD children. The incidence of SOD in infants with apparently normal optic pathways on antenatal imaging was also evaluated.
Results
Fifteen cases of isolated ASP, with median postnatal follow‐up of 36 months (range, 12–60 months), were selected from the two centers. Six previously published studies met the inclusion criteria for the systematic review and a total of 78 cases were eligible for the analysis, including the 15 cases from our series. Genetic tests were carried out antenatally in 30 fetuses, of which two had an abnormal result (pooled proportion, 9.0% (95% CI, 1.8–20.7%); I2 = 0%). Additional or discordant imaging findings were noted postnatally in 9/70 (pooled proportion, 13.7% (95% CI, 3.5–29.0%); I2 = 63.9%) cases. Of all 78 neonates with available follow‐up, SOD was diagnosed postnatally in 14 (pooled proportion, 19.4% (95% CI, 8.6–33.2%); I2 = 51.2%). In 60 cases, the optic pathways were considered to be normal on antenatal imaging, and six of these (pooled proportion, 9.1% (95% CI, 1.1–24.0%); I2 = 62.0%) were diagnosed postnatally with SOD. Of the 46 infants with available neurological follow‐up who were not affected by SOD, a major neurological disability was diagnosed in three (pooled proportion, 6.5% (95% CI, 0.5–18.6%); I2 = 40.1%).
Conclusions
In the vast majority of cases with a prenatal diagnosis of apparently isolated ASP, the prognosis is favorable. However, an additional anomaly is detected after birth in about 14% of cases and has a negative impact on clinical outcome. Detailed antenatal assessment of the brain and optic pathways is strongly recommended in order to identify the presence of associated anomalies. Antenatal visualization of apparently normal optic pathways does not rule out SOD. © 2021 International Society of Ultrasound in Obstetrics and Gynecology.
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First‐trimester fetal neurosonography: technique and diagnostic potential
Volpe, N.; Dall'Asta, A.; Di Pasquo, E. ...
Ultrasound in obstetrics & gynecology,
February 2021, 2021-Feb, 2021-02-00, 20210201, Volume:
57, Issue:
2
Journal Article
Peer reviewed
Open access
ABSTRACT
Most brain abnormalities are present in the first trimester, but only a few are detected so early in gestation. According to current recommendations for first‐trimester ultrasound, the fetal ...
head structures that should be visualized are limited to the cranial bones, the midline falx and the choroid‐plexus‐filled ventricles. Using this basic approach, almost all cases of acrania, alobar holoprosencephaly and cephalocele are detected. However, the majority of other fetal brain abnormalities remain undiagnosed until the midtrimester. Such anomalies would be potentially detectable if the sonographic study were to be extended to include additional anatomic details not currently included in existing guidelines. The aim of this review article is to describe how best to assess the normal fetal brain by first‐trimester expert multiplanar neurosonography and to demonstrate the early sonographic findings that characterize some major fetal brain abnormalities. © 2020 International Society of Ultrasound in Obstetrics and Gynecology
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Fetal intra‐abdominal umbilical vein varix: retrospective cohort study and systematic review and meta‐analysis
di Pasquo, E.; Kuleva, M.; O'Gorman, N. ...
Ultrasound in obstetrics & gynecology,
20/May , Volume:
51, Issue:
5
Journal Article
Peer reviewed
Open access
ABSTRACT
Objective
To investigate the ultrasound characteristics and outcome of pregnancies with fetal intra‐abdominal umbilical vein varix (FIUVV).
Methods
Cases of FIUVV managed at our tertiary ...
university hospital over an 8‐year period were reviewed. Information retrieved included gestational age and diameter of the umbilical varix at diagnosis, increase in varix diameter, associated ultrasound or chromosomal anomalies and pregnancy outcome. Furthermore, a systematic review and meta‐analysis of series of FIUVV in the literature was performed to assess the incidence of chromosomal anomalies, small‐for‐gestational age infants and intrauterine fetal demise (IUFD), and to pool odds ratio (OR) estimates on the relationship between the incidence of these outcomes and the presence of additional associated ultrasound anomalies.
Results
Thirteen cases of FIUVV were included in the cohort study. Additional ultrasound anomalies were found in two (15.4%) of 13 cases. One case of IUFD was observed and no case of chromosomal anomaly or thrombosis of varix was recorded. A total of five studies comprising 254 cases met the inclusion criteria of the systematic review. FIUVV was associated with additional ultrasound anomalies (non‐isolated FIUVV) in 19% (95% CI, 10.9–29.1%) of cases. No case of chromosomal abnormality or IUFD was reported in fetuses with isolated FIUVV. In contrast, in the group of non‐isolated FIUVV, the incidence of chromosomal anomalies was 19.6% and that of IUFD was 7.3%, with ORs of 14.8 (95% CI, 2.9–73.0) and 8.2 (95% CI, 1.05–63.1), respectively, when compared with the group of isolated FIUVV.
Conclusion
When isolated, the outcome of cases affected by FIUVV is usually favorable. In about 20% of cases, additional ultrasound anomalies are found, which are associated with an increased risk for chromosomal abnormalities and IUFD. Copyright © 2017 ISUOG. Published by John Wiley & Sons Ltd.
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Normal and abnormal appearance of fetal ganglionic eminence on second‐trimester three‐dimensional ultrasound
Contro, E.; Volpe, N.; Larcher, L. ...
Ultrasound in obstetrics & gynecology,
September 2023, Volume:
62, Issue:
3
Journal Article
Peer reviewed
Open access
ABSTRACT
Objectives
To describe the appearance and size of the ganglionic eminence (GE) in normal fetuses on midtrimester three‐dimensional (3D) neurosonography and to report on the association ...
between GE alterations (cavitation or enlargement) and malformation of cortical development (MCD).
Methods
This was a prospective multicenter cohort study of normal fetuses and a retrospective analysis of pathological cases with MCD. From January 2022 to June 2022, patients attending our tertiary centers for an expert fetal brain scan were recruited for the purpose of the study. A 3D volume of the fetal head, starting from the sagittal plane, was acquired in apparently normal fetuses using a transabdominal or transvaginal approach. Stored volume datasets were then evaluated independently by two expert operators. Two measurements (longitudinal diameter and transverse diameter) of the GE in the coronal view were obtained twice by each operator. Intra‐ and interobserver measurement variation was calculated. Reference ranges for GE measurements were calculated in the normal population. A previously stored volume dataset of 60 cases with MCD was also analyzed independently by the two operators using the same method in order to assess if GE abnormalities (cavitation or enlargement) were present. Postnatal follow‐up was obtained in all cases.
Results
In the study period, 160 normal fetuses between 19 and 22 weeks of gestation were included in the study. The GE was visible in the coronal plane on 3D neurosonography in 144 (90%) cases and was not clearly visible in the remaining 16 (10%) cases. The intra‐ and interobserver agreement was almost perfect for the longitudinal diameter, with an intraclass correlation coefficient (ICC) of 0.90 (95% CI, 0.83–0.93) and 0.90 (95% CI, 0.86–0.92), respectively, and substantial for the transverse diameter, with an ICC of 0.80 (95% CI, 0.70–0.87) and 0.64 (95% CI, 0.53–0.72), respectively. A retrospective analysis of 50 cases with MCD in the second trimester showed that GE enlargement was present in 12 cases and GE cavitation was present in four cases.
Conclusions
Systematic assessment of the GE in fetuses at 19–22 weeks of gestation is feasible on 3D neurosonography, with good reproducibility in normal cases. Cavitation or enlargement of the GE can be demonstrated in fetuses with MCD. © 2023 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.
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Intracervical lakes as sonographic marker of placenta accreta spectrum disorder in patients with placenta previa or low‐lying placenta
di Pasquo, E.; Ghi, T.; Calì, G. ...
Ultrasound in obstetrics & gynecology,
April 2020, 2020-Apr, 2020-04-00, 20200401, Volume:
55, Issue:
4
Journal Article
Peer reviewed
Open access
ABSTRACT
Objective
To evaluate the diagnostic accuracy of a new ultrasound sign, intracervical lakes (ICL), in predicting the presence of placenta accreta spectrum (PAS) disorder and delivery outcome ...
in patients with placenta previa or low‐lying placenta.
Methods
This was a retrospective multicenter study of women with placenta previa or low‐lying placenta at ≥ 26 weeks' gestation, who were referred to three Italian tertiary units from January 2015 to September 2018. The presence of ICL, defined as tortuous anechoic spaces within the cervix which appeared to be hypervascular on color Doppler, was evaluated on ultrasound images obtained at the time of referral. The primary aim was to explore the diagnostic accuracy of ICL in detecting the presence and depth of PAS disorder. The secondary aim was to explore the accuracy of this sign in predicting total estimated blood loss, antepartum bleeding, major postpartum hemorrhage at the time of Cesarean section and need for Cesarean hysterectomy. The diagnostic accuracy of ICL in combination with typical sonographic signs of PAS disorder, was assessed by computing summary estimates of sensitivity, specificity, positive and negative predictive values, positive and negative likelihood ratios and diagnostic odds ratios (DOR).
Results
A total of 332 women with placenta previa or low‐lying placenta were included in the analysis, with a median maternal age of 33.0 (interquartile range, 29.0–37.0) years. ICL were noted in 15.1% of patients. On logistic regression analysis, the presence of ICL was associated independently with major postpartum hemorrhage (odds ratio (OR), 3.3 (95% CI, 1.6–6.5); P < 0.001), Cesarean hysterectomy (OR, 7.0 (95% CI, 2.1–23.9); P < 0.001) and placenta percreta (OR, 2.8 (95% CI, 1.3–5.8); P ≤ 0.01), but not with the presence of any PAS disorder (OR, 1.6 (95% CI, 0.7–3.5); P = 0.2). Compared with the group of patients without ultrasound signs of PAS disorder, the presence of at least one typical sonographic sign of PAS disorder in combination with ICL had a DOR of 217.2 (95% CI, 27.7–1703.4; P < 0.001) for placenta percreta and of 687.4 (95% CI, 121.4–3893.0; P < 0.001) for Cesarean hysterectomy.
Conclusion
ICL may represent a marker of deep villus invasion in women with suspected PAS disorder on antenatal sonography and anticipate the occurrence of severe maternal morbidity. Copyright © 2019 ISUOG. Published by John Wiley & Sons Ltd.
RESUMEN
Los espacios intracervicales como marcador ecográfico de trastornos del espectro de la placenta acreta en pacientes con placenta previa o placenta baja
Objetivo
Evaluar la precisión del diagnóstico de un nuevo indicio de ultrasonido, los espacios intracervicales (EIC), para predecir la presencia de trastornos del espectro de la placenta acreta (EPA) y el resultado del parto en pacientes con placenta previa o placenta baja.
Métodos
Este fue un estudio multicéntrico retrospectivo de mujeres con placenta previa o placenta baja a ≥ 26 semanas de gestación, que se remitieron a tres unidades terciarias italianas desde enero de 2015 a septiembre de 2018. Se evaluó la presencia de EIC, definida como espacios anecoicos tortuosos dentro del cuello uterino que parecían ser hipervasculares en el Doppler a color, en imágenes de ecografías obtenidas en el momento de la remisión. El objetivo principal fue estudiar la precisión del diagnóstico mediante EIC en la detección de la presencia y la profundidad de un trastorno del EPA. El objetivo secundario fue explorar la precisión de este indicador para predecir la pérdida total estimada de sangre, la hemorragia antes del parto, la hemorragia puerperal importante en el momento de la cesárea y la necesidad de una histerectomía por cesárea. La precisión diagnóstica de EIC, en combinación con los indicios ecográficos típicos de los trastornos del EPA, se evaluó calculando estimaciones estadísticas descriptivas de la sensibilidad, la especificidad, los valores predictivos positivos y negativos, los cocientes de verosimilitud positivos y negativos y las razones de momios del diagnóstico (RMD).
Resultados
En el análisis se incluyó un total de 332 mujeres con placenta previa o placenta baja, con una mediana de la edad materna de 33,0 años (rango intercuartil, 29,0–37,0). Se observaron EIC en el 15,1% de las pacientes. En el análisis de regresión logística, la presencia de EIC se asoció de forma independiente con la hemorragia puerperal grave (razón de momios (RM), 3,3 (IC 95%, 1,6–6,5); P<0,001), la histerectomía por cesárea (RM, 7,0 (IC 95%, 2,1–23,9); P<0,001) y la placenta percreta (RM, 2,8 (IC 95%, 1,3–5,8); P≤0,01), pero no con la presencia de ningún trastorno del EPA (RM, 1,6 (IC 95%, 0,7–3,5); P=0,2). En comparación con el grupo de pacientes sin indicios de ultrasonido de algún trastorno del EPA, la presencia de al menos un indicio ecográfico típico de trastorno del EPA en combinación con EIC tuvo una RMD de 217,2 (IC 95%, 27,7–1703,4; P<0,001) para la placenta percreta y de 687,4 (IC 95%, 121,4–3893,0; P<0,001) para la histerectomía por cesárea.
Conclusión
Los EIC pueden representar un marcador de invasión profunda de las vellosidades en mujeres con sospecha de algún trastorno del EPA basado en la ecografía prenatal y anticipar la presencia de una morbilidad materna grave.
摘要
作为胎盘增生频谱紊乱超声征象的前置胎盘或低位胎盘患者宫颈内血池
目标
评估一种新型超声征象宫颈内血池(ICL)在预测前置胎盘或低位胎盘患者胎盘增生频谱(PAS)紊乱和分娩结果中的诊断准确性。
方法
这是一项针对2015年1月至2018年9月间，转诊至意大利三家三级医院的妊娠满26周前置胎盘或低位胎盘女性患者的回顾性多中心研究。评估转诊时获得的超声图像确定是否存在ICL，即彩色多普勒超声检测显示宫颈内出现血管增生的迂曲无回声间隙。首要目的是研究ICL在检测PAS紊乱及其深度时的诊断准确性。次要目的是研究该征象在估计剖宫产预计总失血量、产前出血、产后大出血，以及是否需要进行剖宫产子宫切除术时的准确性。计算敏感性、特异性、阳性和阴性预测值、阳性和阴性似然比和诊断比值比(DOR)汇总估算，以此评估ICL结合典型PAS紊乱超声征象的诊断准确性。
结果
总共分析了332名前置胎盘或低位胎盘女性患者，孕产妇年龄中位数为33.0岁(四分位间距29.0 ‐ 37.0)。发现15.1%的病患出现ICL。逻辑回归分析表明ICL与产后大出血(比值比OR 3.3 (95% CI, 1.6–6.5); P<0.001))、剖宫产子宫切除术(OR, 7.0 (95% CI, 2.1–23.9); P<0.001)以及植入胎盘(OR, 2.8 (95% CI, 1.3–5.8); P≤0.01)独立相关，但与任何PAS紊乱无关(OR, 1.6 (95% CI, 0.7–3.5); P=0.2)。对照未出现PAS紊乱超声征象的病患组，(植入胎盘中)至少一种典型的PAS紊乱超声征象结合ICL的DOR为217.2 (95% CI, 27.7–1703.4; P<0.001)，剖宫产子宫切除术为687.4 (95% CI, 121.4–3893.0; P<0.001)。
结论
ICL可能是一种产前超声检测中显示疑似PAS紊乱的孕产妇深绒毛浸润标志物，可以预测重度孕产妇疾病发病率。
This article‐s has been translated into Spanish and Chinese. Follow the links from the to view the translations.
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