Fifty-three pairs of twins were obtained during examination of 1,939 spontaneously aborted complete embryos and fetuses. Therefore, the rate of twinning in pregnancies which spontaneously aborted was about 1 in 35. The spontaneous twin abortions consisted of 25 sets of twin embryos, 26 sets of twin fetuses, and two sets in which one was an embryo and one was a fetus. It was possible to determine the zygosity in 37 pairs. The ratio of monozygotic to dizygotic was 17.5:1. About 88% of the twin embryos and 21% of the twin fetuses were abnormal. These abnormality rates were similar to those observed in the overall study of the abortuses. The data on spontaneously aborted twins were compared with data on liveborn twins. The results suggest that twinning, particularly MZ twinning, occurs more frequently than has been thought, based on newborn data, and that embryonic and fetal mortality is much higher in twins than in singletons.

ObjectiveTo ascertain all prenatally diagnosed cases of Steroid Sulfatase (STS) deficiency in British Columbia between August 2002 and July 2007 to determine the incidence of this condition, the clinical and laboratory findings, and the risk of a contiguous gene deletion syndrome.MethodsWe reviewed the medical records of these patients to obtain detailed information about the maternal serum screening results, family history, investigations performed, and outcome of the pregnancy.ResultsThirty pregnant patients were found to have a male fetus/infant with STS deficiency, giving a minimal estimated incidence of this condition of approximately 1 in 1513 males. In twenty nine cases, this condition was isolated. One patient was found to have a contiguous gene deletion syndrome. In cases of sporadic STS deficiency diagnosed prenatally, the frequency of contiguous gene deletion syndrome in this study was 1 out of 12 (8.3%).ConclusionThe clinical, cytogenetic and molecular data on this series of prenatally diagnosed cases of STS deficiency indicates that this is a common condition and in cases with no family history, the risk of contiguous gene deletion syndrome is significant, and warrants additional molecular genetic investigations of the mother and/or fetus. Copyright © 2009 John Wiley & Sons, Ltd.

We have assessed the vitamin B6 status of 40 nonpregnant women of reproductive age, 30 pregnant women, 20 postpartum, not depressed, women and 24 postpartum, depressed women by means of the erythrocyte glutamate-oxaloacetate transaminase activation test (alpha EGOT). The level of mental depression was evaluated in the nonpregnant controls, the postpartum controls and the postpartum, depressed patients by the Beck Depression Inventory and the Depression Adjective Check Lists. The results of the alpha EGOT did not indicate any significant differences between the postpartum, depressed patients and any of the control groups. The Beck and Depression Adjective Check Lists scores were significantly higher in the postpartum depressed patients than in the postpartum controls or nonpregnant controls. On the basis of this study, there is no evidence for vitamin B6 deficiency in women suffering from postpartum depression.

We report on a father and his two daughters diagnosed with Klippel-Feil syndrome (KFS) but with craniofacial differences (zygomatic and mandibular hypoplasia and cleft palate) and external ear abnormalities suggestive of Treacher Collins syndrome (TCS). The diagnosis of KFS was favored, given that the neck anomalies were the predominant manifestations, and that the diagnosis predated later recognition of the association between spinal segmentation abnormalities and TCS. Genetic heterogeneity and the rarity of large families with KFS have limited the ability to identify mutations by traditional methods. Whole exome sequencing identified a nonsynonymous mutation in POLR1D (subunit of RNA polymerase I and II): exon2:c.T332C:p.L111P. Mutations in POLR1D are present in about 5% of individuals diagnosed with TCS. We propose that this mutation is causal in this family, suggesting a pathogenetic link between KFS and TCS.

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