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Objectives To evaluate nasal bone length (NBL), maxilla-nasion-mandible (MNM) angle, fetal profile (FP) line, prenasal thickness (PT), prenasal thickness to nasal bone length (PT: NBL) ratio and prefrontal space ratio (PFSR) as markers of trisomy 18 in the second and third trimesters of pregnancy. Methods The NBL, MNM angle, FP line, PT, PT: NBL ratio and PFSR were measured retrospectively from stored two-dimensional images or three-dimensional volumes of trisomy-18 fetuses, and were compared with our previously reported normal ranges for euploid fetuses. Additional ultrasound findings were noted at initial routine second-trimester scan and at subsequent advanced ultrasound examination performed after referral for karyotyping. Results A total of 43 trisomy-18 fetuses were included in the analysis. At initial examination, median gestational age was 21+2 weeks. NBL and PT were correlated with gestational age (P Conclusions The PT: NBL ratio and NBL are robust second-and third-trimester markers for trisomy 18. A negative FP line has a 0% false-positive rate and the potential to differentiate between trisomy 18 and Down syndrome, as in the latter the FP line is often positive. No major anomaly was observed at the initial scan in about a quarter of trisomy-18 fetuses, underlining the role of second-trimester facial marker evaluation. Copyright (C) 2014 ISUOG. Published by John Wiley & Sons Ltd.

Objectives To evaluate nasal bone length (NBL), maxilla-nasion-mandible (MNM) angle, fetal profile (FP) line, prenasal thickness (PT), prenasal thickness to nasal bone length (PT: NBL) ratio and prefrontal space ratio (PFSR) as markers of trisomy 18 in the second and third trimesters of pregnancy.Methods The NBL, MNM angle, FP line, PT, PT: NBL ratio and PFSR were measured retrospectively from stored two-dimensional images or three-dimensional volumes of trisomy-18 fetuses, and were compared with our previously reported normal ranges for euploid fetuses. Additional ultrasound findings were noted at initial routine second-trimester scan and at subsequent advanced ultrasound examination performed after referral for karyotyping.Results A total of 43 trisomy-18 fetuses were included in the analysis. At initial examination, median gestational age was 21+2 weeks. NBL and PT were correlated with gestational age (PConclusions The PT: NBL ratio and NBL are robust second-and third-trimester markers for trisomy 18. A negative FP line has a 0% false-positive rate and the potential to differentiate between trisomy 18 and Down syndrome, as in the latter the FP line is often positive. No major anomaly was observed at the initial scan in about a quarter of trisomy-18 fetuses, underlining the role of second-trimester facial marker evaluation. Copyright (C) 2014 ISUOG. Published by John Wiley & Sons Ltd.

Objective To examine the impact of introduction of the mid-trimester scan on pregnancy outcome in cases of open spina bifida in two regions of The Netherlands.Methods This was a retrospective cohort study of 190 cases of open spina bifida diagnosed pre- or postnatally, with an estimated date of delivery between 2003 and 2011.Results With implementation of the mid-trimester scan the percentage of cases of open spina bifida detected before the 24th week of pregnancy increased from 43% to 88%. The rise in prenatal detection rate was associated with a significant increase in the number of terminated pregnancies and a decrease in the rate of perinatal loss; the percentage of children born alive did not change significantly. In the subgroup that underwent a scan between 18 and 24 weeks of pregnancy, cranial signs were present in 94.4% of cases.Conclusion Introduction of the mid-trimester scan has led to an increase in early identification of pregnancies complicated by open spina bifida. Pregnancies previously destined to end in perinatal loss are now terminated whilst pregnancies with a relatively good prognosis are frequently continued; the number of children with open spina bifida who are born alive has not changed significantly. Our study confirms that prenatal diagnosis is usually triggered by visualization of a lemon-shaped skull or a banana-shaped cerebellum. Copyright (C) 2013 ISUOG. Published by John Wiley & Sons Ltd.

Objective To examine the impact of introduction of the mid-trimester scan on pregnancy outcome in cases of open spina bifida in two regions of The Netherlands. Methods This was a retrospective cohort study of 190 cases of open spina bifida diagnosed pre- or postnatally, with an estimated date of delivery between 2003 and 2011. Results With implementation of the mid-trimester scan the percentage of cases of open spina bifida detected before the 24th week of pregnancy increased from 43% to 88%. The rise in prenatal detection rate was associated with a significant increase in the number of terminated pregnancies and a decrease in the rate of perinatal loss; the percentage of children born alive did not change significantly. In the subgroup that underwent a scan between 18 and 24 weeks of pregnancy, cranial signs were present in 94.4% of cases. Conclusion Introduction of the mid-trimester scan has led to an increase in early identification of pregnancies complicated by open spina bifida. Pregnancies previously destined to end in perinatal loss are now terminated whilst pregnancies with a relatively good prognosis are frequently continued; the number of children with open spina bifida who are born alive has not changed significantly. Our study confirms that prenatal diagnosis is usually triggered by visualization of a lemon-shaped skull or a banana-shaped cerebellum. Copyright (C) 2013 ISUOG. Published by John Wiley & Sons Ltd.

ObjectiveTo review the available literature on outcome of pregnancy when an isolated single umbilical artery (iSUA) is diagnosed at the time of the mid-trimester anomaly scan.MethodsWe searched MEDLINE (1948-2012), EMBASE (1980-2012) and the Cochrane Library (until 2012) for relevant citations reporting on outcome of pregnancy with iSUA seen on ultrasound. Data were extracted by two reviewers. Where appropriate, we pooled odds ratios (ORs) for the dichotomous outcome measures: small for gestational age (SGA), perinatal mortality and aneuploidy. For birth weight we determined the mean difference with 95% CI.ResultsWe identified three cohort studies and four case-control studies reporting on 928 pregnancies with iSUA. There was significant heterogeneity between cohort and case-control studies. Compared to fetuses with a three-vessel cord, fetuses with an iSUA were more likely to be SGA (OR 1.6 (95% CI, 0.97-2.6); n=489) or suffer perinatal mortality (OR 2.0 (95% CI, 0.9-4.2); n=686), although for neither of the outcomes was statistical significance reached. The difference in mean birth weight was 51g (95% CI, -154.7 to 52.6g): n=407), but again this difference was not statistically significant. We found no evidence that fetuses with iSUA have an increased risk for aneuploidy.ConclusionIn view of the non-significant association between iSUA and fetal growth and perinatal mortality, and in view of the heterogeneity in studies on aneuploidy, we feel that large-scale, prospective cohort studies are needed to reach definitive conclusions on the appropriate work-up in iSUA pregnancies. At present, targeted growth assessment after diagnosis of iSUA should not be routine practice. Copyright (c) 2013 ISUOG. Published by John Wiley & Sons Ltd.

ObjectiveTo review the available literature on outcome of pregnancy when an isolated single umbilical artery (iSUA) is diagnosed at the time of the mid-trimester anomaly scan. MethodsWe searched MEDLINE (1948-2012), EMBASE (1980-2012) and the Cochrane Library (until 2012) for relevant citations reporting on outcome of pregnancy with iSUA seen on ultrasound. Data were extracted by two reviewers. Where appropriate, we pooled odds ratios (ORs) for the dichotomous outcome measures: small for gestational age (SGA), perinatal mortality and aneuploidy. For birth weight we determined the mean difference with 95% CI. ResultsWe identified three cohort studies and four case-control studies reporting on 928 pregnancies with iSUA. There was significant heterogeneity between cohort and case-control studies. Compared to fetuses with a three-vessel cord, fetuses with an iSUA were more likely to be SGA (OR 1.6 (95% CI, 0.97-2.6); n=489) or suffer perinatal mortality (OR 2.0 (95% CI, 0.9-4.2); n=686), although for neither of the outcomes was statistical significance reached. The difference in mean birth weight was 51g (95% CI, -154.7 to 52.6g): n=407), but again this difference was not statistically significant. We found no evidence that fetuses with iSUA have an increased risk for aneuploidy. ConclusionIn view of the non-significant association between iSUA and fetal growth and perinatal mortality, and in view of the heterogeneity in studies on aneuploidy, we feel that large-scale, prospective cohort studies are needed to reach definitive conclusions on the appropriate work-up in iSUA pregnancies. At present, targeted growth assessment after diagnosis of iSUA should not be routine practice. Copyright (c) 2013 ISUOG. Published by John Wiley & Sons Ltd.