Ductus Venosus Flow Research Articles

First-trimester ultrasound screening for trisomy 21 based on maternal age, fetal nuchal translucency, and different methods of ductus venosus assessment.

To examine whether combining the dichotomous assessment of the a-wave and the ductus venosus (DV) pulsatility index for veins (PIV) measurement improves first-trimester screening performance. Retrospective study performed at the University Hospital of Tuebingen based on singleton pregnancies that underwent first-trimester screening including DV flow assessment. In each case, the risk of trisomy 21 was calculated based on maternal age, fetal nuchal translucency, and DV flow either as dichotomous classification of the a-wave, as measurement of the DV PIV, or both. There were 5280 euploid fetuses and 127 fetuses with trisomy 21. The DV a-wave was reversed in 2.3% and 66.1% in the euploid and trisomy 21 cases, respectively. The DV PIV measurements were above the 95th percentile in 8.3% and 77.2% the euploid and trisomy 21 cases, respectively. For a false positive rate of 3%, the detection rate for trisomy 21 based on maternal age, fetal NT, and DV flow is about 87% irrespective of whether DV is examined as a continuous or dichotomous variable. The combination of both resulted in a small decrease at 3% false positive rate. Assessment of the DV a-wave and the DV PIV result in similar DRs. Combining these two approaches does not appear to improve their individual screening performance. © 2017 John Wiley & Sons, Ltd.

How to monitor pregnancies complicated by fetal growth restriction and delivery before 32 weeks: post-hoc analysis of TRUFFLE study.

In the recent TRUFFLE study, it appeared that, in pregnancies complicated by fetal growth restriction (FGR) between 26 and 32 weeks' gestation, monitoring of the fetal ductus venosus (DV) waveform combined with computed cardiotocography (CTG) to determine timing of delivery increased the chance of infant survival without neurological impairment. However, concerns with the interpretation were raised, as DV monitoring appeared to be associated with a non-significant increase in fetal death, and some infants were delivered after 32 weeks, at which time the study protocol no longer applied. This secondary sensitivity analysis of the TRUFFLE study focuses on women who delivered before 32 completed weeks' gestation and analyzes in detail the cases of fetal death. Monitoring data of 317 pregnancies with FGR that delivered before 32 weeks were analyzed, excluding those with absent outcome data or inevitable perinatal death. Women were allocated randomly to one of three groups of indication for delivery according to the following monitoring strategies: (1) reduced fetal heart rate short-term variation (STV) on CTG; (2) early changes in fetal DV waveform; and (3) late changes in fetal DV waveform. Primary outcome was 2-year survival without neurological impairment. The association of the last monitoring data before delivery and infant outcome was assessed by multivariable analysis. Two-year survival without neurological impairment occurred more often in the two DV groups (both 83%) than in the CTG-STV group (77%), however, the difference was not statistically significant (P = 0.21). Among the surviving infants in the DV groups, 93% were free of neurological impairment vs 85% of surviving infants in the CTG-STV group (P = 0.049). All fetal deaths (n = 7) occurred in the groups with DV monitoring. Of the monitoring parameters obtained shortly before fetal death in these seven cases, an abnormal CTG was observed in only one case. Multivariable regression analysis of factors at study entry demonstrated that a later gestational age, higher estimated fetal weight-to-50th percentile ratio and lower umbilical artery pulsatility index (PI)/fetal middle cerebral artery-PI ratio were significantly associated with normal outcome. Allocation to DV monitoring had a smaller effect on outcome, but remained in the model (P < 0.1). Abnormal fetal arterial Doppler before delivery was significantly associated with adverse outcome in the CTG-STV group. In contrast, abnormal DV flow was the only monitoring parameter associated with adverse outcome in the DV groups, while fetal arterial Doppler, STV below the cut-off used in the CTG-STV group and recurrent decelerations in fetal heart rate were not. In accordance with the findings of the TRUFFLE study on monitoring and intervention management of very preterm FGR, we found that the proportion of infants surviving without neuroimpairment was not significantly different when the decision for delivery was based on changes in DV waveform vs reduced STV on CTG. The uneven distribution of fetal deaths towards the DV groups was probably a chance effect, and neurological outcome was better among surviving children in these groups. Before 32 weeks, delaying delivery until abnormalities in DV-PI or STV and/or recurrent decelerations in fetal heat rate occur, as defined by the study protocol, is likely to be safe and possibly benefits long-term outcome. Copyright © 2017 ISUOG. Published by John Wiley & Sons Ltd.

Early prediction of twin-to-twin transfusion syndrome: systematic review and meta-analysis.

To assess the role of first- and early second-trimester markers in the prediction of twin-to-twin transfusion syndrome (TTTS) in monochorionic twin pregnancies. Electronic databases MEDLINE, EMBASE and ClinicalTrials.gov were searched from inception to April 2014, using the MeSH term 'fetofetal transfusion' in combination with phrases 'predictive value', 'sensitivity', 'specificity', 'false positive', 'false negative', 'screening', 'accuracy' and 'ROC'. Study quality was assessed using the PRISMA guidelines and QUADAS-2 tool. A meta-analysis was planned for the following predictive factors: intertwin nuchal translucency (NT) discrepancy; NT > 95th percentile in at least one twin; intertwin crown-rump length (CRL) discrepancy as a percentage of the larger CRL; abnormal ductus venosus (DV) flow in at least one twin. The outcome assessed was TTTS, defined according to the presence of a twin oligohydramnios-polyhydramnios sequence. The diagnostic performance of the predictive factors was evaluated for each included study. The electronic search identified 152 records, of which 23 were assessed in full for eligibility. We identified 13 eligible studies that reported the predictive accuracy of ultrasound parameters, measured before 16 weeks, for the development of TTTS, including a total of 1991 pregnancies, of which 323 developed TTTS. An increased risk of TTTS was associated with: intertwin NT discrepancy (positive likelihood ratio (LR+), 1.92 (95% CI, 1.25-2.96); negative likelihood ratio (LR-), 0.65 (95% CI, 0.50-0.84)); NT > 95th percentile (LR+, 2.63 (95% CI, 1.51-4.58); LR-, 0.85 (95% CI, 0.75-0.96)); CRL discrepancy > 10% (LR+, 1.80 (95% CI, 1.05-3.07); LR-, 0.92 (95% CI, 0.81-1.05)); abnormal DV flow (LR+, 4.77 (95% CI, 1.33-17.04; LR-, 0.49 (95% CI, 0.17-1.41)). The highest sensitivities were observed for intertwin NT discrepancy (52.8% (95% CI, 43.8-61.7%)) and abnormal DV flow (50.0% (95% CI, 33.4-66.6%)). Monochorionic twin pregnancies with intertwin NT discrepancy, NT > 95th percentile, intertwin CRL discrepancy > 10% or abnormal DV flow on first-trimester ultrasound examination are at significantly increased risk of developing TTTS. Copyright © 2016 ISUOG. Published by John Wiley & Sons Ltd.

Prospective association of fetal liver blood flow at 30 weeks gestation with newborn adiposity

The production of variation in adipose tissue accretion represents a key fetal adaptation to energy substrate availability during gestation. Because umbilical venous blood transports nutrient substrate from the maternal to the fetal compartment and because the fetal liver is the primary organ in which nutrient interconversion occurs, it has been proposed that variations in the relative distribution of umbilical venous blood flow shunting either through ductus venosus or perfusing the fetal liver represents a mechanism underlying this adaptation. The objective of the present study was to determine whether fetal liver blood flow assessed before the period of maximal fetal fat deposition (ie, the third trimester of gestation) is prospectively associated with newborn adiposity. A prospective study was conducted in a cohort of 62 uncomplicated singleton pregnancies. Fetal ultrasonography was performed at 30 weeks gestation for conventional fetal biometry and characterization of fetal liver blood flow (quantified by subtracting ductus venosus flow from umbilical vein flow). Newborn body fat percentage was quantified by dual energy X-ray absorptiometry imaging at 25.8 ± 3.3 (mean ± standard error of the mean) postnatal days. Multiple regression analysis was used to determine the proportion of variation in newborn body fat percentage explained by fetal liver blood flow. Potential confounding factors included maternal age, parity, prepregnancy body mass index, gestational weight gain, gestational age at birth, infant sex, postnatal age at dual energy X-ray absorptiometry scan, and mode of infant feeding. Newborn body fat percentage was 13.5% ± 2.4% (mean ± standard error of the mean). Fetal liver blood flow at 30 weeks gestation was significantly and positively associated with newborn total fat mass (r=0.397; P<.001) and body fat percentage (r=0.369; P=.004), but not with lean mass (r=0.100; P=.441). After accounting for the effects of covariates, fetal liver blood flow explained 13.5% of the variance in newborn fat mass. The magnitude of this association was pronounced particularly in nonoverweight/nonobese mothers (prepregnancy body mass index, <25 kg/m2; n=36) in whom fetal liver blood flow explained 24.4% of the variation in newborn body fat percentage. Fetal liver blood flow at the beginning of the third trimester of gestation is associated positively with newborn adiposity, particularly among nonoverweight/nonobese mothers. This finding supports the role of fetal liver blood flow as a putative fetal adaptation underlying variation in adipose tissue accretion.

Changes in ductus venosus flow profile in twin-twin transfusion syndrome: role in risk stratification.

To evaluate changes in ductus venosus (DV) waveforms and the timing of these changes in twin-twin transfusion syndrome (TTTS), to relate these to disease severity and to assess the clinical applicability of the suggested measurements in the prediction of TTTS. DV time intervals and velocity-time integrals (VTI) normalized to cardiac cycle and total VTI, respectively, as well as velocity ratios were analyzed in 149 monochorionic diamniotic (MCDA) twin pairs. Pregnancies were assigned to the following groups: uncomplicated MCDA (n = 29); TTTS Stages I+II (n = 50); TTTS Stages III+IV (n = 49); and pre-TTTS (n = 21), of which 14 remained stable and seven progressed to TTTS. Intertwin differences were calculated as larger/recipient minus smaller/donor and related to disease severity. Receiver-operating characteristics curve analysis was used to distinguish TTTS vs uncomplicated MCDA and pre-TTTS progressing to TTTS vs non-progressing pre-TTTS. Intra- and interobserver reliability of measurement of DV parameters were evaluated using intraclass correlation coefficients (ICCs). No intertwin differences in DV parameters were found in uncomplicated MCDA pregnancies. Diastolic VTIs and filling times were significantly shorter in recipient twins in TTTS cases and in larger pre-TTTS twins in comparison with their cotwins. Time intervals, VTIs and velocity ratios correlated significantly with Quintero stages. An intertwin difference in early filling time (eT) normalized to cardiac cycle, eT (%) ≤ -3.6%, could differentiate TTTS from uncomplicated MCDA pregnancies (82.8% sensitivity; 79.8% specificity) and eT (%) ≤ -2.8% predicted progression to TTTS (73.1% sensitivity; 67.4% specificity). DV flow profiles and timing of waveform events are already altered in pre-TTTS and early-stage disease, reflecting abnormal ventricular filling and circulatory imbalance. Intertwin comparison of filling times and VTI may allow prediction of evolving TTTS in MCDA pregnancies. Copyright © 2016 ISUOG. Published by John Wiley & Sons Ltd.

First-trimester screening for trisomies 18 and 13, triploidy and Turner syndrome by detailed early anomaly scan.

To examine the performance of first-trimester ultrasound screening for trisomies 18 and 13, triploidy and Turner syndrome based on fetal nuchal translucency thickness (NT), additional fetal ultrasound markers including anatomy of the nasal bone (NB), blood flow across the tricuspid valve (TV) and through the ductus venosus (DV) and a detailed fetal anomaly scan at 11-13 weeks' gestation. This was a retrospective case-matched study involving pregnant women at 11-13 weeks' gestation. The study population consisted of fetuses with trisomy 18, trisomy 13, triploidy or Turner syndrome. For each fetus with an abnormal karyotype, 50 randomly selected euploid fetuses were added to the study population. In all cases, the crown-rump length and NT were measured. In addition NB, TV flow and DV flow were examined. The summed risk for trisomies 21, 18 and 13 was computed based on: first, maternal age (MA); second, MA and fetal NT; third, MA, NT and one of the markers NB, TV flow or DV flow; fourth, MA, NT and all these markers combined; fifth, MA, NT and fetal anomalies; and, finally, MA, NT, all markers and fetal anomalies. The study population consisted of 4550 euploid and 91 aneuploid fetuses. Median NT was 1.8 mm in euploid fetuses and 4.8, 6.8, 1.8 and 10.0 mm in fetuses with trisomy 18, trisomy 13, triploidy and Turner syndrome, respectively. The NB, TV flow and DV flow were abnormal in 48 (1.1%), 34 (0.7%) and 99 (2.2%) euploid fetuses, respectively, and in 42 (46.2%), 31 (34.1%) and 62 (68.1%) aneuploid fetuses, respectively. At least one defect was found in 60 (1.3%) euploid and in 76 (83.5%) aneuploid fetuses. For a false-positive rate of 3%, the detection rate for screening based on MA and fetal NT was 75.8%. It increased to 84.6-86.8% when including one of the additional ultrasound markers and it was 90.1% when all three markers were included. When screening was based on MA, fetal NT and a detailed anomaly scan, the detection rate was 94.5% and increased to 95.6% with the addition of NB, TV flow and DV flow. A detailed anomaly scan at 11-13 weeks' gestation can identify about 95% of fetuses with trisomy 18, trisomy 13, triploidy and Turner syndrome. Copyright © 2015 ISUOG. Published by John Wiley & Sons Ltd.

Cardiac defects, nuchal edema and abnormal lymphatic development are not associated with morphological changes in the ductus venosus

BackgroundIn human fetuses with cardiac defects and increased nuchal translucency, abnormal ductus venosus flow velocity waveforms are observed. It is unknown whether abnormal ductus venosus flow velocity waveforms in fetuses with increased nuchal translucency are a reflection of altered cardiac function or are caused by local morphological alterations in the ductus venosus. AimThe aim of this study was to investigate if the observed increased nuchal translucency, cardiac defects and abnormal lymphatic development in the examined mouse models are associated with local changes in ductus venosus morphology. Study designMouse embryos with anomalous lymphatic development and nuchal edema (Ccbe1−/− embryos), mouse embryos with cardiac defects and nuchal edema (Fkbp12−/−, Tbx1−/−, Chd7fl/fl;Mesp1Cre, Jarid2−/−NE+ embryos) and mouse embryos with cardiac defects without nuchal edema (Tbx2−/−, Fgf10−/−, Jarid2−/−NE− embryos) were examined. Embryos were analyzed from embryonic day (E) 11.5 to 15.5 using markers for endothelium, smooth muscle actin, nerve tissue and elastic fibers. ResultsAll mutant and wild-type mouse embryos showed similar, positive endothelial and smooth muscle cell expression in the ductus venosus at E11.5–15.5. Nerve marker and elastic fiber expression were not identified in the ductus venosus in all investigated mutant and wild-type embryos. Local morphology and expression of the used markers were similar in the ductus venosus in all examined mutant and wild-type embryos. ConclusionsCardiac defects, nuchal edema and abnormal lymphatic development are not associated with morphological changes in the ductus venosus. Ductus venosus flow velocity waveforms most probably reflect intracardiac pressure.

Absence of an anatomical origin for altered ductus venosus flow velocity waveforms in first‐trimester human fetuses with increased nuchal translucency

To perform a morphological evaluation of the ductus venosus, heart and jugular lymphatic sac (JLS) in first-trimester human fetuses with normal and abnormal ductus venosus flow velocity waveforms (DV-FVWs) and normal and increased nuchal translucency (NT). Postmortem examination was performed on fetuses with increased NT or structural malformations with previous NT and DV-FVW measurements. Ductus venosus morphology was examined using markers for endothelium, smooth muscle actin (SMA), nerves and elastic fibers. Fetal hearts were studied by microscopy. The nuchal region was analyzed using markers for lymphatic vessels, endothelium, SMA and nerves. Two trisomy 21 and two trisomy 18 fetuses with increased NT and abnormal DV-FVWs were analyzed. As a control, one euploid anencephalic fetus with normal NT, cardiac anatomy and DV-FVWs was examined. Similar endothelial and SMA expression was observed in the ductus venosus in all fetuses. Nerve and elastic fiber expression were not detected. Three trisomic fetuses showed cardiac defects, one trisomic fetus demonstrated normal cardiac anatomy. The JLS was abnormally enlarged or contained red blood cells in all trisomic fetuses. The control fetus showed a normal JLS. Abnormal DV-FVWs are not justified by alterations in ductus venosus morphology. DV-FVWs most probably reflect intracardiac pressure. © 2016 John Wiley & Sons, Ltd.

Ductus venosus blood flow velocity waveforms during the early second trimester of pregnancy in a Thai population.

To establish reference ranges for ductus venosus (DV) blood flow velocities and indices during the early second trimester. A cross-sectional DV Doppler study of fetuses at 15-22 weeks of gestation was conducted at Songklanagarind Hospital, Songkhla, Thailand, during 2013-2014. The peak forward velocities were recorded and the DV indices were calculated. Predicted reference ranges based on the 5th and 95th percentiles according to the week of gestation were constructed. Among 371 fetuses, measurement of DV Doppler waveforms in the sagittal plane was achieved in 97.5% of cases. With advancing pregnancy (weeks 15 to 22), the DV velocities during ventricular systole, early diastole, and atrial contraction increased from 47.48 cm/s to 68.22 cm/s, 42.23 cm/s to 60.52 cm/s, and 15.94 cm/s to 34.84 cm/s, respectively. The time-averaged maximum value increased from 37.61 cm/s to 55.42 cm/s. The DV indices-pulsatility index for the vein, peak velocity index for the vein, preload index, and systolic/a-wave ratio-decreased from 0.79 to 0.59, 0.71 to 0.53, 0.63 to 0.47, and 2.72 to 1.90, respectively. The systolic/diastolic ratio remained relatively constant at 1.12. Normal reference ranges for DV flow velocities and indices during the early second trimester were established.

Utility of ductus venosus blood flow in the study of cardiac function in fetuses with intracardiac echogenic focus.

The purpose of this study was to investigate fetal ductus venosus (DV) wave velocities, DV velocity ratios, and DV diastolic time intervals to derive additional information on fetal cardiac function in the presence of an intracardiac echogenic focus (IEF). Seventy fetuses at 19-28 weeks of gestation with an IEF and 63 control fetuses were screened using two-dimensional and power Doppler echocardiography. DV wave velocities, DV velocity ratios, and diastolic time intervals were measured. The aortic peak velocity, pulmonary artery peak velocity, left ventricular shortening fraction, and right ventricular shortening fraction, atrioventricular early-diastolic filling velocity (E), atrial contraction velocity (A), and E/A ratio were also measured. The study and control groups were similar in terms of maternal age, body mass index, and gestational age in weeks at the time of examination (p > 0.05). Significant between-group differences were found in DV v-descent (p = 0.03) and a-wave velocities (p = 0.04). Although the presence of an IEF in the fetal heart does not influence conventional measurements (DV velocity ratios and DV diastolic time intervals), it is associated with changes in DV v-descent and a-wave velocities. These changes may be indirectly related to reduced end-systolic relaxation and augmented atrial contraction in the fetal heart. We therefore suggest examination of DV flow velocities in fetuses with IEF.

First trimester ultrasound screening for Down syndrome based on maternal age, fetal nuchal translucency and different combinations of the additional markers nasal bone, tricuspid and ductus venosus flow.

To examine the performance of screening for Down syndrome based on maternal age, fetal nuchal translucency (NT) and different combinations of the additional ultrasound parameters: nasal bone (NB), tricuspid flow (TF) and ductus venosus (DV). Retrospective study at the University of Tuebingen, Germany including women who underwent chorionic villous sampling between 2008 and 2014. Prior to invasive testing, the crown rump length, NT, NB, TF and DV were measured. In each case, the added value of the additional markers NB, TF and DV were compared with screening for trisomy 21 based on maternal age (MA) and NT thickness alone. A total of 1916 pregnancies met the inclusion criteria, including 1823 fetuses with a normal karyotype and 93 with trisomy 21. Screening based on MA, fetal NT and one, two and three of the additional ultrasound markers resulted in a detection rate of about 80%, 87% and 94%, respectively for a false positive rate of 3%. Detection rates for trisomy 21 in first trimester ultrasound screening are substantially higher if all three additional markers rather than just one are assessed.

EP09.22: Antenatally diagnosed intra‐abdominal umbilical vein varix

We discuss an ICSI pregnancy in a 31 year old gravida 2 para 0 woman, after 15 week miscarriage and difficulty conceiving. Low BMI 21.0 and teetotal. Low risk 1st trimester screening, NT 2.30 mm at 13 + 3 weeks. 20 + 5 week scan showed no abnormality and a normal abdomen. Repeat scan at 28 weeks showed a large AC >97th centile with normal fetal growth, scan review arranged for 2 weeks. Prominent umbilical vein noted at 30 week scan and referral to FMU. Umbilical vein varix measuring 14.0 x 24.0 x 51.9 mm diagnosed, minimal turbulence noted within the vein. No other structural defects seen, umbilicoplacental Dopplers and ductus venosus flow normal, however mildly elevated MCA peak velocity. The couple were counselled that this is a rare finding with uncertain outcome, therefore the plan was for close fetal monitoring, prophylactic steroids and delivery at 34 weeks. Modern colour Doppler technology including 3D Power Doppler was helpful not only in making the diagnosis but when counselling the couple (see images). Supporting information can be found in the online version of this abstract Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.

First-trimester contingent screening for trisomies 21, 18 and 13 by fetal nuchal translucency and ductus venosus flow and maternal blood cell-free DNA testing

Objective To examine performance of screening for major trisomies by a policy of first-line assessment of risk according to maternal age, fetal nuchal translucency thickness (NT) and ductus venosus pulsatility index for veins (DV-PIV) followed by cell-free DNA (cfDNA) testing in pregnancies with an intermediate risk. Methods We estimated the distribution of risks based on maternal age, fetal NT and DV-PIV in a dataset of 86 917 unaffected and 491 trisomic pregnancies undergoing prospective screening for trisomies. Performance of screening for trisomies by cfDNA testing was derived from a meta-analysis of clinical validation studies. We estimated performance and cost of screening for trisomies using different combinations of ultrasound screening and cfDNA testing.

First trimester ultrasound screening for trisomy 21 based on maternal age, fetal nuchal translucency and different combinations of the additional markers nasal bone, tricuspid and ductus venosus flow

First trimester ultrasound screening for trisomy 21 based on maternal age, fetal nuchal translucency and different combinations of the additional markers nasal bone, tricuspid and ductus venosus flow

Alterations in time intervals of ductus venosus and atrioventricular flow velocity waveforms in growth-restricted fetuses.

To investigate time intervals of the ductus venosus (DV) flow velocity waveform (FVW) and those of the cardiac cycle that correspond with each DV-FVW component in fetuses with intrauterine growth restriction (IUGR) due to placental insufficiency. Women with a pregnancy complicated by IUGR were recruited into the study, as was a normal control group. Time intervals for systolic (S) and diastolic (D) components were measured in DV-FVW as follows: S(DV), from the nadir of the a-wave during atrial contraction to the nadir between the S-wave and D-wave; D(DV), from the nadir between S-wave and D-wave to the nadir of the a-wave. Regarding cardiac cycles, the following variables were measured from ventricular inflow through the tricuspid valve (TV) and mitral valve (MV): S(TV) and S(MV), from the second peak of ventricular inflow caused by atrial contraction (A-wave) to the opening of the atrioventricular valve; D(TV) and D(MV), from the opening of the atrioventricular valve to the peak of the A-wave. In the IUGR group, only the last examination performed within 1 week of delivery was used for analysis. All variables were analyzed statistically using Z-scores. Data were obtained from 249 normal fetuses and 26 fetuses with IUGR. Compared to normal fetuses, S(DV) showed a significant decrease (P < 0.001), while D(DV) showed a significant increase (P < 0.001) in the IUGR group. Regarding cardiac cycles, S(TV) and S(MV) showed significant decreases (P = 0.014 and P < 0.001, respectively) and D(TV) and D(MV) showed significant increases (P = 0.008 and P = 0.002, respectively) in fetuses with IUGR. Time-interval alterations of DV-FVW in growth-restricted fetuses reflect the hemodynamic events caused by placental insufficiency.

Prominent coronary artery flow with normal coronary artery anatomy is a rare but ominous harbinger of poor outcome in the fetus

Objectives: “Heart sparing” refers to prominent antegrade fetal coronary artery (CA) blood flow readily visualized by color Doppler and is a harbinger of poor outcome in growth restricted fetus, but little is known of the features and presentation of heart sparing in normally grown fetuses. Our objective was to describe heart sparing effects in normally grown fetuses, and compare the presentation and outcome of heart sparing between fetuses with growth restriction and those who were normally grown.Methods: In a series of fetuses with prominent antegrade CA flow, we assessed Doppler flow profiles in the aortic isthmus, ductus venosus (DV), umbilical vein (UV), umbilical artery (UA) and middle cerebral artery (MCA). We calculated MCA and UA systolic/diastolic ratios and the cerebral placental ratio, and measured fetal biometry. We evaluated cardiac function using the myocardial performance index (MPI) and the cardiovascular profile score (CVPS).Results: Ten fetuses with heart sparing had normal DV flow at 24–36.6 (mean 30.9) weeks of gestation. Five had growth restriction (Group 1); 4/5 had normal MPI and CVPS, and one died. Five were normally grown (Group 2); 5/5 had elevated MPI and decreased CVPS, of these 2 died in utero and one died immediately after birth despite urgent delivery. Coronary arteries were normal after birth or autopsy.Conclusions: Heart sparing confers a poor prognosis in fetal growth restriction and in normally grown fetuses with cardiac dysfunction. We suggest CA flow be assessed in all high-risk fetuses.

Prognostic factors of perinatal short-term outcome in severe placental insufficiency using Doppler sonography to assess end-diastolic absent and reverse blood flow in umbilical arteries

Significant placental insufficiency, indicated by Doppler ultrasound findings of absent or reverse end-diastolic flow velocities (AREDV), is associated with increased morbidity and mortality. Analysis of blood flow in the ductus venosus should assist in early intrauterine recognition of threatened foetuses. 58 high-risk pregnancies with umbilical AREDV were repeatedly examined (n=364). Doppler findings were correlated with neonatal signs of deterioration (ratio of normoblasts to leukocytes, pH, base excess, Apgar score), as well as short-term morbidity [need for intubation, duration of assisted respiration, evidence of respiratory distress syndrome (RDS), bronchopulmonary dysplasia (BPD), necrotising enterocolitis (NEC), intraventricular haemorrhage (IVH grade III+IV)] against the analysis of the blood flow findings (normal or increased pulsitility, absence or reverse end-diastolic flow) in the umbilical arteries (AU), the middle cerebral arteries (ACM) and ductus venosus (DV) relating these to birth weight and the duration of the pregnancy. The median period of observation was 12.8 days, 48% of the foetuses showed an abnormal ductus venosus flow and 26% an absent venous or reverse end-diastolic flow. The median date of delivery was 30 weeks, with a mean birth weight of 816 g. 93% were live births with 12% dying postnatally. Although the criteria for postnatal morbidity (BPD, NEC, IVH III+IV) and mortality did not correlate with changes in arterial and venous Doppler parameters in our group, there was a significant relationship between the normoblast count, known to be a marker of chronic hypoxia. The Apgar 10 minte score, umbilical arterial pH and base excess were correlated with changes in the DV flow curves. Healthy survival started, irrespective of arterial or venous blood flow criteria, from 27+0 weeks of pregnancy. If born between 27.0 and 30+6 weeks, the infants were more likely to be healthy the less the blood flow had been compromised. A birth weight of 590 g (sensitivity 62.5%; specificity 93.5%) and gestational age of 28+5 weeks (sensitivity 87.5%; specificity 90.3%) were shown to be cut-off points between healthy survival and survival with serious neonatal complications.

First trimester severe ductus venosus flow abnormalities in isolation or combination with other markers of aneuploidy and fetal anomalies.

Altered flow in ductus venosus (DV) may be caused by the changes in preload or afterload. Its association with aneuploidy and congenital heart defects (CHDs) was widely described. The aim of this study was to examine the incidence of a reversed a-wave in DV flow (revDV) and the absence of DV (noDV), their coincidences with other markers of aneuploidy or fetal abnormalities in a mixed-risk population. The study group covered women who underwent an ultrasound scan between 11+0 and 13+6 weeks' gestation. Applied inclusion criteria: Singleton pregnancies with known pregnancy outcome and a crown-rump length of 45-84 mm. A total of 5811 cases, including 137 aneuploidies, met the inclusion criteria: 35 subjects of noDV, 189 of revDV and 5587 of normal DV flow. The incidence of noDV in euploidy was 0.47%, and in aneuploidy 5.8%. The incidence of revDV in euploidy was 2.46%, and in aneuploidy 35.7%. Among aneuploidy, the highest prevalence of noDV was found in monosomy 45X. revDV showed the highest prevalence in trisomy 18. Isolated noDV was only found in euploidy. Isolated revDV subjects were only observed in euploidy and trisomy 21. Any combination of revDV with additional markers showed high incidence in major trisomies. Extracardiac anatomy and abnormal cardiac findings showed a higher prevalence in noDV and revDV cases. The presence of noDV might be useful in suspicion of monosomy X among cases with increased nuchal translucency, as well as in differentiating them from other aneuploidies. The combinations of aneuploidy markers with revDV are strong indicators of aneuploidy. revDV alone is a poor screening tool for aneuploidy and euploidy with CHD.

First-trimester contingent screening for trisomies 21, 18 and 13 by fetal nuchal translucency and ductus venosus flow and maternal blood cell-free DNA testing.

To examine performance of screening for major trisomies by a policy of first-line assessment of risk according to maternal age, fetal nuchal translucency thickness (NT) and ductus venosus pulsatility index for veins (DV-PIV) followed by cell-free DNA (cfDNA) testing in pregnancies with an intermediate risk. We estimated the distribution of risks based on maternal age, fetal NT and DV-PIV in a dataset of 86 917 unaffected and 491 trisomic pregnancies undergoing prospective screening for trisomies. Performance of screening for trisomies by cfDNA testing was derived from a meta-analysis of clinical validation studies. We estimated performance and cost of screening for trisomies using different combinations of ultrasound screening and cfDNA testing. Screening for trisomies 21, 18 and 13 according to a combination of maternal age, fetal NT and DV-PIV in all pregnancies, followed by invasive testing in the high-risk group (≥ 1:10) and cfDNA testing in the intermediate-risk group (1:11-1:3000) can potentially detect about 96%, 95% and 91% of cases, respectively, with a false-positive rate (FPR) of 0.8%. On the assumption that the costs for ultrasound screening, cfDNA testing and invasive testing are €150, €500 and €1000, respectively, the overall cost of such a policy would be about €250 per patient. The alternative policy, of universal screening by cfDNA testing, can potentially detect about 99%, 97% and 92% of cases of trisomies 21, 18 and 13, but at an overall cost of more than €500 per patient. Incorporation of cfDNA testing into a contingent policy of early screening for the major trisomies, based on the risk derived from first-line screening by a combination of maternal age, fetal NT and DV-PIV, can detect a high proportion of affected cases with a low FPR.

Early detection of fetal cardiac abnormalities: how effective is it and how should we manage these patients?

Congenital heart defects (CHDs), the most commonly occurring congenital malformations, cause significant mortality and morbidity. With the recognition of early markers for CHD and the development of better ultrasound resolution, interest has turned toward performing a screening anomaly scan, including the heart, together with the nuchal scan. It is also possible, with adequate skill and training, to competently perform an echocardiogram <16 weeks' gestation. This article reviews the detection of major CHD in the first trimester and early second trimester including specific markers that help to identify high-risk groups for early fetal echocardiography (EFEC). CHD detection during first-trimester screening is low (2.3-56%) depending on the center's experience and the population studied. An increased nuchal translucency, abnormal ductus venosus flow, and tricuspid regurgitation in the first trimester are associated with an increased CHD risk and can be used together to identify high-risk fetuses for EFEC. EFEC requires skilled scanning and the expertise of a fetal echocardiographer. In high-risk populations, it is 78.5% sensitive with a 74.5% concordance between the EFEC and the mid-gestational echocardiogram. The availability of qualified personnel and diagnostic accuracy are prerequisites before EFEC can be introduced into management protocols. The limitations of EFEC should be recognized, and a later confirmatory echocardiogram is recommended.