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Objective The aim of this study is to assess the intraobserver and interobserver reproducibility of measurement of amniotic fluid index (AFI) and single deepest vertical pool (SDVP), also known as the maximal vertical pocket. Methods A total of 175 fetuses were evaluated. For each fetus, two observers acquired duplicate sets of AFI and SDVP. Measurement differences were expressed as actual and percentage values. For all comparisons, Bland–Altman plots were used to compare differences, and limits of agreement were calculated. Results Intraobserver and interobserver agreement remained fairly constant with gestation, both for AFI and SDVP. The intraobserver limits of agreement for AFI were −5.2 to 5 cm or −39% to 37%; whereas for SDVP, these were −2.6 to 2.4 cm or −52% to 48%. The interobserver limits of agreement for AFI measurement were −7.3 to 7.1 cm or −54% to 53% and for SDVP measurement were −2.5 to 2.5 cm or −51% to 52%. Intraobserver coefficient of variation for SDVP was 14% and for AFI was 19%; the interobserver coefficient was 19% for both AFI and SDVP. Conclusion Limits of agreement for both methods are wide. The choice of method should be dictated by clinical considerations other than method reproducibility. © 2014 John Wiley & Sons, Ltd.

Objective Studies have suggested that fetuses with holoprosencephaly have smaller head size, demonstrated as early as the first trimester. However, the majority of these cases were diagnosed in the second or third trimesters. The aim of this study was to investigate biparietal diameter (BPD) measured at 11 to 13 weeks' gestation in fetuses with holoprosencephaly. Methods This was a retrospective study in which BPD was measured at 11 to 13 weeks in 34 fetuses with prenatal diagnosis of holoprosencephaly and 7775 unaffected controls. BPD values were converted into multiples of the expected median (MoM) after adjustment for crown–rump length and maternal characteristics. Results The median gestational age at the BPD recording was 12.6 (interquartile range 12.3–13.0) weeks. The nuchal translucency was increased (≥3mm) in 58.8% of the cases. Aneuploidy was confirmed in 73.5% of the cases; the commonest was trisomy 13 (50.0%). BPD values at 11 to 13 weeks were below the 5th centile in 32.4% of cases and below the 50th centile in 67.6%. BPD MoM values were significantly smaller than in the control group (median: 0.98; interquartile range: 0.90–1.06 vs 1.00; 0.96–1.04 MoM, p = 0.03). Conclusion Fetuses with holoprosencephaly have a smaller BPD in the first trimester. This property may be useful in early diagnosis. © 2013 John Wiley & Sons, Ltd.

Objective Fetal femur volume (FV) is a useful marker of skeletal growth. Our objective was to create a normal FV chart in a cohort of healthy pregnant women and to assess FV repeatability. Method The method used was a prospective, observational study using 3D ultrasound. Low-risk pregnant women underwent serial scans from 14 to 42 weeks. Strict inclusion and exclusion criteria were used in order to remove pathological conditions. Pregnancies were dated by last menstrual period and confirmed by crown-rump length. FV was measured using three linear measurements and a volume equation. Data were analyzed using multilevel modeling. Repeatability was assessed using within-subject coefficients of variation (CV), intraclass correlation coefficients (ICC), and Bland–Altman plots. Results A total of 180 women underwent 868 scans, a median of five scans per participant. Median and centile values were presented in the form of curves, regression equations, and table of values per completed week. Intra-observer CV and ICC were 10.5% and 0.977, respectively; interobserver CV and ICC were 16.8% and 0.923. Conclusion This normal FV chart can be used as a prescriptive standard in order to assess fetal skeletal growth. Measurement repeatability is satisfactory for clinical use, but FV has a larger random error than commonly seen with standard 2D biometry. © 2013 John Wiley & Sons, Ltd.

Objectives Previous publications suggest that exomphalos containing the liver as less likely to be associated with aneuploidy. The objective of the study was to explore the influence of exomphalos contents and nuchal translucency (NT) on the likelihood of aneuploidy. Methods A retrospective search was conducted to identify all cases of exomphalos from the databases of two fetal medicine units seen from September 2000 to March 2011. Results A total of 95 fetuses with exomphalos were selected. NT was normal in 42 fetuses (44.2%). The exomphalos content was bowel alone in 68 (71.6%). The effect of exomphalos content and NT on likelihood of aneuploidy was explored using logistic regression. It showed no significant contribution of exomphalos content on the likelihood of aneuploidy (adjusted odds ratio: 1.44, 95% CI: 0.538 to 3.84). Conclusions When the diagnosis is made in the first trimester, the risk of aneuploidy is no different when the sac contains only bowel as compared with when it contains the liver. Increase in the NT is 4–5 times as likely with an abnormal karyotype as with normal NT. Detection of exomphalos in the first trimester warrants an offer of chromosomal assessment regardless of sac contents or NT. © 2012 John Wiley & Sons, Ltd.

Objective Rendered three-dimensional images of the fetal cranial vault permit the identification of sutures and measurement of the fontanelle surface area. The objective of this study was to establish the feasibility and repeatability of sphenoidal fontanelle area measurement. Method Head volumes were obtained using the biparietal diameter as the reference plane. These were displayed with maximum rendering and the surface area of the sphenoidal fontanelle was measured by one operator. Feasibility was expressed as the percentage of scans with a successful measurement at different gestational ages. Repeatability was expressed as coefficient of variation (CV), intraclass correlation coefficient (ICC) and Bland–Altman plots. Results Thirty women underwent 141 scans. Feasibility of sphenoidal fontanelle measurement is over 90% before 26 weeks, but drops gradually thereafter and becomes 0% at 34 weeks. Intraobserver repeatability of measurement on the same scan image demonstrated CV = 17.5% and ICC = 0.883; however, when measuring a newly acquired volume, the repeatability is poor, CV = 30.7% and ICC = 0.649. Conclusion Although it is feasible to visualize the sphenoidal fontanelle on rendered three dimensions, its surface area measurement is not reliable for clinical use. There is potential to overestimate repeatability when remeasuring the same volume. © 2012 John Wiley & Sons, Ltd.

Objective The aim of this study is to outline the aetiology and outcome of a series of fetuses with nonimmune hydrops (NIH), detected prenatally. The findings are compared with a comprehensive review of recent reports. Methods This is a retrospective study reviewing all pregnancies complicated by NIH in the fetus and continued after 20 weeks of pregnancy over a period of 10 years. Outcome was obtained from postmortem reports, discharge summaries, communication with the clinicians or information from the parents. A literature search was also performed to identify all reports on NIH in the last 10 years. Results Seventy-one fetuses affected by NIH were included in this study. The aetiology of the NIH was identified prenatally in 40 cases. The most common causes of NIH were thoracic disorders, infections and cardiovascular disorders. Forty-four of the 71 (62%) fetuses were live-born. There were 10 neonatal deaths. Of the remaining 34 babies, 17 infants survived without morbidity. Conclusion The survival rate of NIH is at least 48% in this study. Prenatal identification of the cause is possible in 56% of cases. The risk of neurodevelopmental delay in those that survive is 3 of 28 (11%). Copyright  2011 John Wiley & Sons, Ltd.

The aim of this study is to assess the intraobserver and interobserver reproducibility of measurement of amniotic fluid index (AFI) and single deepest vertical pool (SDVP), also known as the maximal vertical pocket.A total of 175 fetuses were evaluated. For each fetus, two observers acquired duplicate sets of AFI and SDVP. Measurement differences were expressed as actual and percentage values. For all comparisons, Bland-Altman plots were used to compare differences, and limits of agreement were calculated.Intraobserver and interobserver agreement remained fairly constant with gestation, both for AFI and SDVP. The intraobserver limits of agreement for AFI were -5.2 to 5 cm or -39% to 37%; whereas for SDVP, these were -2.6 to 2.4 cm or -52% to 48%. The interobserver limits of agreement for AFI measurement were -7.3 to 7.1 cm or -54% to 53% and for SDVP measurement were -2.5 to 2.5 cm or -51% to 52%. Intraobserver coefficient of variation for SDVP was 14% and for AFI was 19%; the interobserver coefficient was 19% for both AFI and SDVP.Limits of agreement for both methods are wide. The choice of method should be dictated by clinical considerations other than method reproducibility.

CASE REPORTA 20-year-old woman (gravida 1, para 0) was referred at22 weeks and 3 days of gestation with bilateral talipesand a suspected spinal abnormality. The nuchal translu-cency assessed at 12 weeks and 3 days was 2.3 mmwith a CRL (crown–rump length) of 59.8 mm givingan adjusted risk for Down syndrome of 1:825. Thepatient had an uneventful medical history, and no his-tory of abdominal trauma was elicited. We performeda detailed 2D–3D ultrasound examination of the fetalanatomy. This confirmed the finding of bilateral talipes,and reduced movements across the knee joint on bothsides were observed. In addition, complete disjunction ofthe thoracic and lumbar spine at the L1 and L2 level wasseen (Figure 1(a)). There was no spina bifida or hemiver-tebra nor any evidence of Arnold Chiari malformationor further associated structural abnormalities.In view of the findings suggestive of neurologicaldamage below the level of the spinal lesion, the par-ents opted for a termination of pregnancy. Cytogeneticanalysis of cells obtained from the fetal blood at thetime of the fetocide showed normal 46,XX karyotype.Postmortem fetal X-ray and (magnetic resonance imag-ing (MRI) scan were performed prior to pathologicalexamination, in order to better define the spinal abnor-mality and to inform of the risk of recurrence of theabnormality in future pregnancies. X-ray showed a com-plete disjunction of thoracic and lumbar spines withsevere kyphosis and gibbus apex marking the level ofthe lesion (Figure 1(b)). The L1 and L2 spinous processwere hypoplastic and a vestigial L1 body was fused toT12, while the L2 body was agenetic. The lower threelumbar and the sacrococcygeal vertebrae were present.Postmortem MRI confirmed the configuration of thespine as shown on the plain films (Figure 1(c)). Fur-thermore, it showed overlap of the unossified spinalsegments and an abnormally thin spinal cord at the levelof the lesion, while there was evidence of a thickened

Studies have suggested that fetuses with holoprosencephaly have smaller head size, demonstrated as early as the first trimester. However, the majority of these cases were diagnosed in the second or third trimesters. The aim of this study was to investigate biparietal diameter (BPD) measured at 11 to 13 weeks' gestation in fetuses with holoprosencephaly.This was a retrospective study in which BPD was measured at 11 to 13 weeks in 34 fetuses with prenatal diagnosis of holoprosencephaly and 7775 unaffected controls. BPD values were converted into multiples of the expected median (MoM) after adjustment for crown-rump length and maternal characteristics.The median gestational age at the BPD recording was 12.6 (interquartile range 12.3-13.0) weeks. The nuchal translucency was increased (≥3mm) in 58.8% of the cases. Aneuploidy was confirmed in 73.5% of the cases; the commonest was trisomy 13 (50.0%). BPD values at 11 to 13 weeks were below the 5(th) centile in 32.4% of cases and below the 50(th) centile in 67.6%. BPD MoM values were significantly smaller than in the control group (median: 0.98; interquartile range: 0.90-1.06 vs 1.00; 0.96-1.04 MoM, p = 0.03).Fetuses with holoprosencephaly have a smaller BPD in the first trimester. This property may be useful in early diagnosis.

Fetal femur volume (FV) is a useful marker of skeletal growth. Our objective was to create a normal FV chart in a cohort of healthy pregnant women and to assess FV repeatability.The method used was a prospective, observational study using 3D ultrasound. Low-risk pregnant women underwent serial scans from 14 to 42 weeks. Strict inclusion and exclusion criteria were used in order to remove pathological conditions. Pregnancies were dated by last menstrual period and confirmed by crown-rump length. FV was measured using three linear measurements and a volume equation. Data were analyzed using multilevel modeling. Repeatability was assessed using within-subject coefficients of variation (CV), intraclass correlation coefficients (ICC), and Bland-Altman plots.A total of 180 women underwent 868 scans, a median of five scans per participant. Median and centile values were presented in the form of curves, regression equations, and table of values per completed week. Intra-observer CV and ICC were 10.5% and 0.977, respectively; interobserver CV and ICC were 16.8% and 0.923.This normal FV chart can be used as a prescriptive standard in order to assess fetal skeletal growth. Measurement repeatability is satisfactory for clinical use, but FV has a larger random error than commonly seen with standard 2D biometry.

Rendered three-dimensional images of the fetal cranial vault permit the identification of sutures and measurement of the fontanelle surface area. The objective of this study was to establish the feasibility and repeatability of sphenoidal fontanelle area measurement.Head volumes were obtained using the biparietal diameter as the reference plane. These were displayed with maximum rendering and the surface area of the sphenoidal fontanelle was measured by one operator. Feasibility was expressed as the percentage of scans with a successful measurement at different gestational ages. Repeatability was expressed as coefficient of variation (CV), intraclass correlation coefficient (ICC) and Bland-Altman plots.Thirty women underwent 141 scans. Feasibility of sphenoidal fontanelle measurement is over 90% before 26 weeks, but drops gradually thereafter and becomes 0% at 34 weeks. Intraobserver repeatability of measurement on the same scan image demonstrated CV = 17.5% and ICC = 0.883; however, when measuring a newly acquired volume, the repeatability is poor, CV = 30.7% and ICC = 0.649.Although it is feasible to visualize the sphenoidal fontanelle on rendered three dimensions, its surface area measurement is not reliable for clinical use. There is potential to overestimate repeatability when remeasuring the same volume.

The aim of this study is to outline the aetiology and outcome of a series of fetuses with non-immune hydrops (NIH), detected prenatally. The findings are compared with a comprehensive review of recent reports.This is a retrospective study reviewing all pregnancies complicated by NIH in the fetus and continued after 20 weeks of pregnancy over a period of 10 years. Outcome was obtained from postmortem reports, discharge summaries, communication with the clinicians or information from the parents. A literature search was also performed to identify all reports on NIH in the last 10 years.Seventy-one fetuses affected by NIH were included in this study. The aetiology of the NIH was identified prenatally in 40 cases. The most common causes of NIH were thoracic disorders, infections and cardiovascular disorders. Forty-four of the 71 (62%) fetuses were live-born. There were 10 neonatal deaths. Of the remaining 34 babies, 17 infants survived without morbidity.The survival rate of NIH is at least 48% in this study. Prenatal identification of the cause is possible in 56% of cases. The risk of neurodevelopmental delay in those that survive is 3 of 28 (11%).

To investigate the natural history, associated abnormalities and outcome in fetuses diagnosed prenatally with agenesis of the corpus callosum (ACC).A retrospective study of all cases of prenatally detected ACC was performed in patients referred to two tertiary units between January 1993 and October 2003. Associated abnormalities, pregnancy outcome and infant follow-up were recorded.ACC was diagnosed in 117 cases. In 82 (70%) cases this was associated with other fetal structural (n = 49) or chromosomal abnormalities (n = 33). ACC was classified as an isolated prenatal finding in 35 (30%) cases. Assuming normal development in all cases lost to follow-up, significant developmental delay was present in 36% (95% CI, 15-65%) of isolated ACC. Furthermore, developmental delay was present in all cases with ventriculomegaly of at least 15 mm and in one of four cases with ventricular measurements less than 15 mm.The outcome of prenatally detected ACC is mainly dependent on the presence or absence of associated anomalies. The full assessment of fetal ACC mandates karyotyping, MRI and a search for more subtle ultrasound features of certain genetic syndromes. In this series, at least 36% (95% CI, 15-65%) of cases with isolated ACC exhibited significant developmental delay when assessed postnatally.