Comparison of prenatal ultrasound and postmortem findings in fetuses and infants with central nervous system anomalies

Isaksen, C. V.; Eik‐Nes, S. H.; Blaas, H.‐G. K.; Torp, Sverre Helge

doi:10.1046/j.1469-0705.1998.11040246.x

Cited by 64 publications

(67 citation statements)

References 28 publications

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“…23 One recent study has shown prenatal ultrasonographic diagnosis of central nervous system anomalies to have a high concordance with the autopsy diagnosis (89%). 24 This is in agreement with our study, in which postnatal and postmortem investigations confirmed the prenatal diagnosis in 13 of 15 cases (87%). Nevertheless, the prenatal sonographic distinction among such lesions may be subtle; yet differentiating these lesions is extremely important owing to the variability in prognosis, which may range from favorable to very poor.…”

Section: Discussionsupporting

confidence: 93%

Neurodevelopmental outcome after antenatal diagnosis of posterior fossa abnormalities.

Aletebi

Fung

1999

Journal of Ultrasound in Medicine

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Posterior fossa abnormalities are sonographically diagnosable in the fetus. Anomalies of this region include Dandy‐Walker malformation, enlarged cisterna magna, and arachnoid cyst. Despite prenatal diagnosis, the uncertainties related to natural history and neurodevelopmental outcome in survivors make patient counseling difficult. The purposes of this study were to determine the accuracy of prenatal diagnosis of these lesions and elucidate long‐term neurodevelopmental outcome in survivors in prenatally diagnosed posterior fossa abnormalities. Fifteen cases of posterior fossa abnormalities were reviewed. Antenatal diagnoses of Dandy‐Walker malformation was made in 13 of these cases, arachnoid cyst in one case, and enlarged cisterna magna in one case. Hydrocephalus was present in 66% of patients. The sonographic diagnosis was concordant with the pathologic or neonatal radiologic diagnosis in 13 of 15 cases. Seven fetuses (47%) exhibited additional cranial or extracranial anomalies. A karyotypic abnormality (trisomy 18) was found in one of 15 cases of posterior fossa abnormalities. Neurodevelopmental delay was present in 80% of survivors with follow‐up study to 4 years of age. Prenatal diagnosis of posterior fossa abnormalities is highly accurate, yet the differential diagnosis can be challenging. Cognitive and psychomotor developmental delays remain commonplace despite early diagnosis and treatment. The approach with families in cases of prenatal diagnosis of posterior fossa abnormalities should include a search for additional central nervous system and extra‐central nervous system anomalies in the fetus and counseling of parents regarding potential adverse outcome for survivors.

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Section: Discussionsupporting

confidence: 93%

Neurodevelopmental outcome after antenatal diagnosis of posterior fossa abnormalities.

Aletebi

Fung

1999

Journal of Ultrasound in Medicine

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“…it could be regarded as the incidence rate of other associated neurological conditions for the given malformation. Within the 21%, spina bifida was found to be 10%; Isaksen et al [27] reported 16% in his sample, while data by Csabay et al [22] accounted for 17%. When associated spina bifida is detected, it is worth examining which anatomical region of the vertebral column is affected.…”

Section: Color Version Available Online Color Version Available Onlinementioning

confidence: 73%

“…Corpus callosum dysgenesis should also be mentioned among the associated malformations of the central nervous system [10] . Compared to the full sample, its incidence was found to be 2.17%, while Isaksen et al [27] and Csabay et al [22] reported 3 and 2.3%, respectively.…”

Section: Color Version Available Online Color Version Available Onlinementioning

confidence: 83%

Etiology, Prenatal Diagnostics and Outcome of Ventriculomegaly in 230 Cases

et al. 2008

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Objective: The aim of this study was to review and summarize the information regarding the etiology, diagnostics and outcome of ventriculomegaly. Methods: The study included 230 cases of ventriculomegaly examined between 1979 and 2000. The main diagnostic criterion for ventriculomegaly was the transverse diameter of the ventricular atrium at the level of the glomus of the chorioid plexus measuring >10 mm, irrespective of gestational age. Results: Gender distribution (male:female ratio: 0.98) coincided with that of the general population. In 32% of the cases (72/230), the history was positive; 6% (12/230) had a positive genetic history, while 26% (60/230) were associated with pathological obstetric events. The incidence rate of ventriculomegaly in the patients’ history was found to be 2.61% (6/230). In nearly 60% of the cases included in this study, ventriculomegaly was diagnosed before the 24th week of pregnancy. Fresh fetal infection confirmed by Toxoplasma PCR real-time examination was diagnosed only in cases of severe ventriculomegaly. Based on the measurement of the diameter of the atrium of the lateral ventricle, severe and mild ventriculomegaly was diagnosed in 142/230 (61.7%) and 88/230 cases (38.3%), respectively. Termination of pregnancy was significantly more frequent in cases of severe than of mild ventriculomegaly (92 vs. 66%). Conclusions: The importance of positive obstetric and/or genetic history should be emphasized as it is in direct relationship with the increased incidence of this malformation. Regarding the practice of ultrasonography, mild ventriculomegaly (transverse diameter of the lateral ventricle <15 mm) has a much better prognosis than the severe form (transverse diameter of the lateral ventricle >15 mm) of the malformation. Based on the ultrasonographic diagnosis of ventriculomegaly, TORCH serological examination is also recommended since treating toxoplasmosis by medication may have a promising prognosis for the pregnancy. In cases of isolated ventriculomegaly alone, intrauterine karyotyping is not necessarily indicated, but in cases where ventriculomegaly is associated with other genetic disorders karyotyping should definitely be performed. Since ventriculomegaly is not incompatible with postnatal life by itself, the decision about the fate of the pregnancy is largely dependent on the presence of other organic disorders.

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“…OF D&E SPECIMENS There are several studies 18,[32][33][34][35][36][37][38][39][40][41][42][43][44][45][46][47] that have reviewed the correlation between prenatal ultrasound and autopsy findings, all based on examination of intact fetuses. Agreement between prenatal ultrasound findings and autopsy diagnosis when autopsy is performed on an intact fetus ranges from 45% to 91.2%.…”

Section: Value Of Careful Examinationmentioning

confidence: 99%

Pathologic Examination of Fetal and Placental Tissue Obtained by Dilation and Evacuation

Ernst

Gawron

Fritsch

2013

Archives of Pathology &Amp; Laboratory Medicine

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Context.-Dilation and evacuation (D&E) is an alternative method to induction of labor for pregnancy termination and intrauterine fetal demise, and it is the most common mode of second-trimester uterine evacuation in the United States. Many D&E specimens are examined in surgical pathology, and there is little information available in surgical pathology textbooks or the literature to assist pathologists in these examinations.Objective.-To provide an overview of the D&E procedure, discuss related legal issues, provide guidelines for routine pathologic examination of D&E specimens, and demonstrate the importance of careful pathologic examination of D&E specimens.Data Sources.-Case-derived material and literature review.Conclusions.-Pathologic examination of D&E specimens has been understudied. However, the available literature and our experience support the fact that careful pathologic examination of D&E specimens can identify significant fetal and placental changes that can confirm clinical diagnoses or provide definitive diagnosis, assist in explaining the cause of intrauterine fetal demise, and identify unexpected anomalies that may provide further clues to a diagnostic syndrome or mechanism of anomaly formation.(Arch Pathol Lab Med. 2013;137:326-337; doi: 10.5858/ arpa.2012-0090-RA) P athologic examination of products of conception in routine surgical pathology practice consists largely of the gross and microscopic examination of fragmented fetal and placental tissue from first-trimester missed or induced abortions. The majority of these pathology specimens are handled grossly by technicians, and for the most part, the main goal is the pathologic documentation of chorionic villi and fetal parts. However, pathologists, especially at large academic medical centers, are encountering an increasing number of disrupted, second-trimester fetal specimens for examination. Prior to the 1970s, uterine evacuation in the second trimester was accomplished via labor induction methods, such as prostaglandin or saline instillation, or by hysterotomy, and resulted in an intact fetus. The development of the dilation and evacuation (D&E) procedure during this time period gave an alternative to these methods. In 1974, only 36% of all midtrimester abortions were managed via D&E, but the safety and popularity of this method increased that number to 96% in 2005. 1 The development of a fellowship in family planning in 1991 has trained a new generation of academic D&E providers. This is a 2-year postgraduate training program for obstetrician-gynecologists and focuses on advanced clinical skills, research, and teaching in the field of contraception and abortion. A total of 179 fellows have graduated, with 79% holding positions in academic centers.2 The addition of a trained fellow to an institution will increase access to D&E services and allow women options for management of an unintended or abnormal pregnancy. Women have been shown to preferentially choose management via D&E over labor induction in the second trimester, avoiding an unpr...

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Comparison of prenatal ultrasound and postmortem findings in fetuses and infants with central nervous system anomalies

Cited by 64 publications

References 28 publications

Neurodevelopmental outcome after antenatal diagnosis of posterior fossa abnormalities.

Neurodevelopmental outcome after antenatal diagnosis of posterior fossa abnormalities.

Etiology, Prenatal Diagnostics and Outcome of Ventriculomegaly in 230 Cases

Pathologic Examination of Fetal and Placental Tissue Obtained by Dilation and Evacuation

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