Outcome of isolated enlarged cisterna magna identified in utero: experience at a single medical center in mainland China

Liu, Zequn; Han, Jin Hee; Fu, Fang; Liu, Juan; Li, Ru; Yang, Xin; Pan, Min; Li, Zhen; Li, Dong-Zhi; Liao, Can

doi:10.1002/pd.5046

Cited by 10 publications

(11 citation statements)

References 35 publications

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“…In a systemic review of isolated prenatal posterior fossa malformations, the rates of additional CNS and other system anomalies were found as 12.6% and 16.6%, respectively (17). Furthermore, isolated MCM has a favorable outcome (18). The differential diagnosis of posterior fossa enlargement is another challenging subject in prenatal diagnosis and MCM, Blake’s pouch cyst and vermian hypoplasia may all cause similar US findings (19).…”

Section: Discussionmentioning

confidence: 99%

Congenital central nervous system anomalies: Ten-year single center experience on a challenging issue in perinatal medicine

Aydın¹,

Büyükeren²,

Uçkan³

et al. 2019

J Turkish German Gynecol Assoc

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Objective:Our goal was to highlight the prenatal diagnosis and management of central nervous system (CNS) anomalies through sharing our clinic’s experience.Material and Methods:We evaluated prenatal findings and postnatal outcomes of neonates who had a CNS anomaly diagnosis in our clinic over a ten-year period. A total of 183 cases with various CNS anomalies were included in the study. Birth or termination preferences of mothers were recorded in all cases, and postnatal diagnosis concordance and prognosis after surgical procedures were evaluated in mothers who chose to continue the pregnancy.Results:The mean maternal age was 28.2±5.5 years, mean gravida was 2.2±1.3, and the mean gestational age at diagnosis was 30.5±5.5 weeks. Seventy-five out of 183 (41%) patients chose to terminate their pregnancy. Twenty babies (26.6%) in the termination of pregnancy group had additional anomalies. One hundred eight patients gave birth at our institution. The mean birth weight was 3060±647.5 g, the mean gestational week at delivery was 37.9±1.7 weeks, and mean APGAR score (5th minute) was 8.8±2.3. Four neonates died on the postpartum first day. The postnatal diagnosis of 60 of the 108 (55.5%) patients who gave birth was concordant with the prenatal diagnosis, and 32 of the 108 (29.6%) babies underwent surgical interventions.Conclusion:CNS anomalies have a broad spectrum and variable prognoses. This study highlights the limitations of prenatal diagnoses, and the need for parents to have this information in order to determine the course of their pregnancy and prepare themselves for the postnatal challenging treatment/rehabilitation process.

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Section: Discussionmentioning

confidence: 99%

Congenital central nervous system anomalies: Ten-year single center experience on a challenging issue in perinatal medicine

Aydın¹,

Büyükeren²,

Uçkan³

et al. 2019

J Turkish German Gynecol Assoc

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“…The diagnostic yields of CMA over NIPT and karyotyping varied greatly between the reviewed studies, from 0 in three of these studies involving fetuses with other USMs rather than MVM 19,20,26 to 9.64% in fetuses with MVM in our prospective cohort study (Table 4). These discrepancies could be partially explained by the small sample sizes involved, by differences in cohort selection, and especially by the involvement of fetuses with different USMs.…”

Section: Results Of Meta-analysismentioning

confidence: 94%

“…The search revealed 799 studies, of which 9 studies in addition to our own study met the final inclusion criteria and were included in the meta-analysis (Figure 1). [18][19][20][21][22][23][24][25][26] Quality assessment of the included studies using QUADAS-2 was shown in Figure S1 of Supporting Information. Overall, 1817 fetuses were involved in this meta-analysis, including 405 fetuses with MVM and 1412 fetuses with other USMs (Table S3 of Supporting Information).…”

Section: Results Of Meta-analysismentioning

confidence: 99%

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Should chromosomal microarray be offered to fetuses with ultrasonographic soft markers in second trimester: A prospective cohort study and meta‐analysis

Han

et al. 2020

Prenatal Diagnosis

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Objective: To evaluate whether chromosomal microarray (CMA) should be offered to fetuses with ultrasonographic soft markers (USMs) in the second trimester. Methods: A prospective cohort study and meta-analysis were conducted. In the prospective cohort study, 564 fetuses with USMs were enrolled. In the meta-analysis, eligible articles describing copy number variations in fetuses with USMs were included. Results: In the prospective cohort study, the diagnostic yields of CMA over noninvasive prenatal testing (NIPT) and karyotyping were significantly higher in fetuses with mild ventriculomegaly (MVM) than those in local control cohorts with normal ultrasound. However, the yields of CMA over NIPT and karyotyping in fetuses with other USMs were similar to controls. About ten studies, involving 405 fetuses with MVM and 1412 fetuses with other USMs, were included in the meta-analysis. The pooled diagnostic yields of CMA over NIPT and karyotyping in fetuses with MVM were 4.9% and 3.2%, respectively. In fetuses with other USMs, the yields of CMA over NIPT and karyotyping were 1.2% and 0.4%, respectively. Conclusion: It is reasonable to offer CMA as a first-tier test to fetuses with MVM. However, for fetuses with other USMs, the considerations to perform CMA should not differ from pregnancies with normal ultrasound. 1 | INTRODUCTION Ultrasound has become a crucial tool for the prenatal evaluation of growth and anatomy worldwide. 1 In China, a routine prenatal ultrasound is performed at 18 to 24 weeks gestational age for the detection of fetal anomalies and pregnancy complications and the majority of women choose to participate. 2 In addition to fetal structural abnormalities or abnormal fetal development, many other nonspecific, often transient anatomic findings, also known as "soft markers," can also be detected. 3,4 Although these soft markers are not anatomic abnormalities, there is evidence that they convey a statistically increased risk for fetal aneuploidy. 3,5 When ultrasonographic soft markers (USMs) are detected in second trimester, the finding can raise questions about prenatal diagnostic testing procedures. As technologies evolve, various methods are currently implemented in prenatal genetic testing, including noninvasive prenatal testing (NIPT) and invasive testing using karyotyping or chromosomal microarray (CMA). As compared to invasive testing, NIPT using cell-free fetal DNA (cffDNA) from maternal plasma is noninvasive and more acceptable by women. In contrast, invasive prenatal testing is performed by chorionic villi sampling, amniocentesis, or cord blood sampling, which is associated with an increased risk of miscarriage and other side-effects. 6 Karyotyping using the cells obtained from invasive testing is the conventional cytogenetic test with a

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“…A total of 804 studies were initially screened and 59 publications were included in the final systematic review 4,5,7,15‐69 (Figure 1) (Table S1). Separate publications with duplicated data from those included were assessed 51,70‐80 …”

Section: Resultsmentioning

confidence: 99%

Biometric assessments of the posterior fossa by fetal MRI: A systematic review

et al. 2020

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Background Posterior fossa abnormalities (PFAs) are commonly identified within routine screening and are a frequent indication for fetal magnetic resonance imaging (MRI). Although biometric measurements of the posterior fossa (PF) are established on fetal ultrasound and MRI, qualitative visual assessments are predominantly used to differentiate PFAs. Objectives This systematic review aimed to assess 2‐dimensional (2D) biometric measurements currently in use for assessing the PF on fetal MRI to delineate different PFAs. Methods The protocol was registered (PROSPERO ID CRD42019142162). Eligible studies included T2‐weighted MRI PF measurements in fetuses with and without PFAs, including measurements of the PF, or other brain areas relevant to PFAs. Results 59 studies were included – 6859 fetuses had 62 2D PF and related measurements. These included linear, area and angular measurements, representing measures of PF size, cerebellum/vermis, brainstem, and supratentorial measurements. 11 measurements were used in 10 or more studies and at least 1200 fetuses. These dimensions were used to characterise normal for gestational age, diagnose a range of pathologies, and predict outcome. Conclusion A selection of validated 2D biometric measurements of the PF on fetal MRI may be useful for identification of PFA in different clinical settings. Consistent use of these measures, both clinically and for research, is recommended.

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Outcome of isolated enlarged cisterna magna identified in utero: experience at a single medical center in mainland China

Abstract: The outcome of children with IECM may be guarded, especially some subtle deficits in adapting and gross motor abilities. In contrast, the developmental quotients of infants with prenatal non-IECM were lower than that those of normal infants. © 2017 John Wiley & Sons, Ltd.

Cited by 10 publications

References 35 publications

Congenital central nervous system anomalies: Ten-year single center experience on a challenging issue in perinatal medicine

Congenital central nervous system anomalies: Ten-year single center experience on a challenging issue in perinatal medicine

Should chromosomal microarray be offered to fetuses with ultrasonographic soft markers in second trimester: A prospective cohort study and meta‐analysis

Biometric assessments of the posterior fossa by fetal MRI: A systematic review

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