Objective To examine the performance of the 11-13 weeks scan in detecting non-chromosomal abnormalities.Methods Prospective first-trimester screening study for aneuploidies, including basic examination of the fetal anatomy, in 45 191 pregnancies. Findings were compared to those at 20-23 weeks and postnatal examination.Results Aneuploidies (n = 332) were excluded from the analysis. Fetal abnormalities were observed in 488 (1.1%) of the remaining 44 859 cases; 213 (43.6%) of these were detected at 11-13 weeks. The early scan detected all cases of acrania, alobar holoprosencephaly, exomphalos, gastroschisis, megacystis and body stalk anomaly, 77% of absent hand or foot, 50% of diaphragmatic hernia, 50% of lethal skeletal dysplasias, 60% of polydactyly, 34% of major cardiac defects, 5% of facial clefts and 14% of open spina bifida, but none of agenesis of the corpus callosum, cerebellar or vermian hypoplasia, echogenic lung lesions, bowel obstruction, most renal defects or talipes. Nuchal translucency (NT) was above the 95th percentile in 34% of fetuses with major cardiac defects.Conclusion At 11-13 weeks some abnormalities are always detectable, some can never be and others are potentially detectable depending on their association with increased NT, the phenotypic expression of the abnormality with gestation and the objectives set for such a scan.
The study aimed to develop prediction algorithms for hypertensive disorders based on multivariate analysis of factors from the maternal history and compare the estimated performance of such algorithms in the prediction of early preeclampsia (PE), late-PE and gestational hypertension (GH) with that recommended by the National Institute for Clinical Excellence (NICE). Logistic regression analysis was used to determine which of the maternal characteristics and history had significant contribution in predicting early-PE, late-PE and GH. There were 37 cases with early-PE, 128 with late-PE, 140 with GH and 8061 cases that were unaffected by PE or GH. Predictors of early-PE were Black race, chronic hypertension, prior PE and use of ovulation drugs. Predictors of late-PE and GH were increased maternal age and body mass index, and family history or history of PE. Additionally, late-PE was more common in Black, Indian and Pakistani women. The detection rates of early-PE, late-PE and GH in screening by maternal factors were 37.0, 28.9 and 20.7%, respectively, for a 5% false positive rate. Screening as suggested by NICE would have resulted in a false positive rate of 64.1% with detection rates of 89.2, 93.0 and 85.0% for early-PE, late-PE and GH, respectively. Meaningful screening for hypertensive disorders in pregnancy by maternal history necessitates the use of algorithms derived by logistic regression analysis.
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