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The fetal cerebellum can be visualized with ultrasound throughout the second trimester. We describe a technique for measuring the transverse and anteroposterior cerebellar diameters and the measurement of the cisterna magna in the same plane between 14 and 32 weeks gestation. Nomograms for these measurements against gestational age showed good correlation, and narrow confidence limits for the transverse cerebellar diameter. The transverse cerebellar diameter was also measured directly in 79 fetuses after midtrimester abortion and the measurements obtained were compared with the ultrasound TCD nomogram. Good correlation, was obtained between the post mortem measurements and the ultrasound TCD nomogram. Routine use of these measurements and nomograms should prove valuable in the diagnosis of congenital abnormality of the posterior fossa and may also be of use in assessing the effect of severe intrauterine growth retardation and other insults on cerebellar growth and development. The narrow confidence limits obtained with the TCD nomogram should enable it to be used with confidence in clinical practice.

No abstract

To the best of our knowledge, these sibling fetuses add to the few reported cases of ABS, caused by a combination of a SNV and a CNV in the POR gene. The detailed description of the pathologic and radiographic findings of second trimester fetuses affected with ABS adds novel knowledge concerning the early ABS phenotype, in lack of previous relevant reports. Birth Defects Research (Part A) 106:536-541, 2016. © 2016 Wiley Periodicals, Inc.