Evaluation of Fetal Central Nervous System Anomalies by Ultrasound and Its Anatomical Co-relation

Onkar, Deepali; Onkar, Prashant; Mitra, Kajal

doi:10.7860/jcdr/2014/8052.4437

Cited by 33 publications

(40 citation statements)

References 9 publications

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“…Central nervous system (CNS) abnormalities affect 0.14% to 0.16% of live births and 3.0% to 6.0% of stillborn fetuses . Posterior fossa anomalies (PFAs) represent some of the most common CNS anomalies.…”

Section: Introductionmentioning

confidence: 99%

“…Central nervous system (CNS) abnormalities affect 0.14% to 0.16% of live births and 3.0% to 6.0% of stillborn fetuses. 1 Posterior fossa anomalies (PFAs) represent some of the most common CNS anomalies. Posterior fossa anomalies are a heterogenous group of conditions that are defined on the basis of the morphological approach proposed by Tortori-Donati et al, 2 including cystic malformations and noncystic malformations.…”

Section: Introductionmentioning

confidence: 99%

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Prenatal diagnosis of posterior fossa anomalies: Additional value of chromosomal microarray analysis in fetuses with cerebellar hypoplasia

et al. 2018

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Prenatal diagnosis of posterior fossa anomalies: Additional value of chromosomal microarray analysis in fetuses with cerebellar hypoplasia

et al. 2018

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“…The incidence in our study was 0.28%. Similarly, Onkar et al reported that the incidence of central nervous system malformations on ultrasound was 0.31% [4]. In their study there was a high correlation between autopsy and postnatal examination findings with ultrasound findings.…”

Section: Discussionmentioning

confidence: 75%

10.14744/nci.2014.84803

Tutuş

Ozyurt

Yılmaz

et al. 2014

North Clin Istanbul

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OBJECTIVE:Central nervous system (CNS) anomalies are the most common abnormalities of all malformations and can be diagnosed on routine prenatal ultrasonography (US). We aimed to find out fetal CNS anomaly rate in our clinic which is the referral center in the region.METHODS:This is a retrospective study of 15000 pregnant women who were scanned for routine obstetric follow-up from January 2012 to July 2013 in our referral center. We diagnosed CNS anomalies in 41 fetuses by using high resolution ultrasound unit with 3.5 MHz transabdominal and 6 MHz transvaginal transducers.RESULTS:CNS anomalies included 12 Chiari malformations, 2 Dandy-Walker malformations (DWM), 1 variant of Dandy-Walker syndrome (DWS), 3 iniencephalies, 15 anencephalies, 1 alobar holoprosencephaly, 2 isolated hydrocephalies, 3 hydrocephalies with cerebellar hypoplasia, 1 occipital encephalocele, 1 lumbosacral myelomeningocele accompanied with microcephaly. There were some associated anomalies in the groups that included club-foot deformities in 6 cases, ventricular septal defect (VSD) in 2 cases, polycystic kidney in 2 cases, scoliosis in 1 case, hypoplasic left ventricle in 1 case; alone atrium, single umbilical artery, echogenic focus, hydronephrosis and cleft lip and palate in the same case, and omphalocele in one.CONCLUSION:Prognosis and early detection of CNS abnormalities have become an important issue because the most serious complications of major CNS anomalies are disability and getting bedridden and this situation is inevitably related to health economy. On the other hand prognosis of the fetus and family counseling is another important issue. Parents should decide whether to continue their pregnancies or not.

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“…The incidence of central nervous system abnormalities is 0.14%-0.16% in the live birth, and the rate of stillbirth is as high as 3%-6% [8] . Fetal nervous system malformations include anencephaly, malformation of the corpus callosum, hydrocephalus, Dandy-Walker syndrome, microcephaly, subarachnoid cyst, widened posterior fossa, and poor cerebellar dysplasia.…”

Section: Discussionmentioning

confidence: 99%

The Application of SNP Microarray Technique in Fetal Central Nervous System Abnormality

Conghong¹,

Zhu²,

Liu³

et al. 2018

ijSciences

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Objective: To explore the application significance of SNP microarray technique in fetal central nervous system deformity and the relationship between chromosome abnormality and fetal nervous system abnormality. Methods: Collection of 40 abnormal amniotic fluid and abortion casese of fetal nervous system abnormalities sereened by Ultrasonic testing and Nuclear magnetic resonance (NMR) were tested by SNP microarray technology, of the 40 samples, 32 samples of amniotic fluid were additionally analyzed with traditional karyotype. Results: The success rate of fetal nervous system anomaly detection was 100%. At the same time, in 32 cases of amniotic fluid analysis, 31 cases were successfully cultured, and the success rate was 96.9%. There were 7 cases of chromosome abnormality (17.5%), 2 cases with abnormal number(5%), 5 cases of structural abnormalities (12.5%) .32 samples of amniotic fluid were tested both by traditional karyotype analysis and SNP microarray technique, the traditional karyotype analysis only found 2 cases of numerical chromosomal abnormalities. SNP chromosome microarray technology also found 2 cases structura1 chromosomal abnormalities in the sample of lateral ventricle and hydrocephalus. Additonally detected out 3 cases of structura1 chromosomal abnormalities among 8 cases of abortion samples with fetal nervous system abnormality. Conclusion: SNP microarray can not only detect the numerical abnormalities of chromosome and large fragments of structural abnormalities, but also detect the microdeletion and microduplation of chromosomes, so as to help fully understanding the status of the chromosomal abnormalities of fetal nervous system abnormality, Particularly, gene copy number variation (CNV) is closely related to fetal central nervous system abnormality.

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Evaluation of Fetal Central Nervous System Anomalies by Ultrasound and Its Anatomical Co-relation

Abstract: Introduction: Central nervous system anomalies are often severe and are the most common indications for therapeutic abortions. Ultrasound examination helps to identify and evaluate them well before birth.

Cited by 33 publications

References 9 publications

Prenatal diagnosis of posterior fossa anomalies: Additional value of chromosomal microarray analysis in fetuses with cerebellar hypoplasia

Prenatal diagnosis of posterior fossa anomalies: Additional value of chromosomal microarray analysis in fetuses with cerebellar hypoplasia

10.14744/nci.2014.84803

The Application of SNP Microarray Technique in Fetal Central Nervous System Abnormality

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