Prenatal ultrasonic characteristics and diagnosis of fetal Currarino syndrome:Report of 2 cases and review of literature

Objective To explore prenatal ultrasonic characteristics of fetal Currarino syndrome(CS)and methods for prenatal diagnosis of CS.Methods Two fetuses with CS confirmed by genetic examination were retrospectively analyzed,while 6 CS fetuses with complete prenatal ultrasonic data in literature were reviewed.Prenatal ultrasonic characteristics of CS fetuses and the method for prenatal diagnosis of CS were discussed.Results Among 8 CS fetuses diagnosed with prenatal ultrasound,4 were female singletons with a clear family history of CS,and MNX 1 gene mutation was found in 1 fetus.The other 4 fetuses were 2 pairs of male monochorionic twins,all with MNX 1 gene mutation.Among 8 CS fetuses,complete triad(sacral agenesis abnormalities,anorectal malformation and presacral mass)were displayed only in 2 fetuses,while all 8 had sacral agenesis abnormalities and 6(6/8,75.00%)were detected with prenatal ultrasound,6 had low location of conus medullaris and 2(2/6,33.33%)detected with prenatal ultrasound.Conclusion Prenatal ultrasound was the first choice for non-invasive diagnosis of fetal CS.When one of sacral agenesis abnormalities,anorectal malformation and presacral mass was found with prenatal ultrasound,the possibility of CS should be considered,and fetal MRI,genetic examination and prenatal genetic counselling should be recommended if necessary.

Right heart modified myocardial performance index and ductus venosus spectrum parameters in pre-eclampsia fetuses for predicting adverse pregnancy outcomes

Objective To observe the values of changes of right heart modified myocardial performance index(Mod-MPI)and ductus venosus(DV)spectrum parameters in pre-eclampsia fetuses for predicting adverse pregnancy outcomes.Methods Eighty-one pregnant women diagnosed as pre-eclampsia were prospectively enrolled and divided into severe pre-eclampsia(SPE)group(n=39)and mild pre-eclampsia(MPE)group(n=42),while 85 healthy pregnant women were taken as controls(control group).Fetal right heart function parameters,including right ventricular isovolumetric relaxation time(IRT),isovolumetric contraction time(ICT),ejection time(ET),total spent time(TST),Mod-MPI,tricuspid valve peak flow velocity ratio in early and late diastole(TV-E/A),as well as blood flow velocities in each waveform of DV spectrum(S,V,D,and A wave)were obtained,and the pulsatility index(PI)and the ratio of blood flow velocities in each waveform of the DV(S/V,S/D,S/A,V/D,V/A,D/A)were calculated.Intrauterine fetal distress,preterm delivery,neonatal asphyxia and newborn with low weight were considered as adverse pregnancy outcomes.The correlations of right heart Mod-MPI and TV-E/A with DV parameters in pre-eclampsia fetuses were assessed,and their predictive efficacies for adverse pregnancy outcomes were evaluated for right heart Mod-MPI and DV using the receiver operating characteristics(ROC)and the area under the curves(AUC).Results Compared with control group and MPE group,fetal right heart IRT,ICT and Mod-MPI increased and ET decreased in SPE group(all P<0.05).No significant differences of right heart TST and TV-E/A among 3 groups(both P>0.05).Fetal DV A-wave velocity and V/D values progressively decreased but PI progressively increased in control,MPE and SPE groups(all P<0.05).Fetal right heart Mod-MPI in pre-eclampsia was moderately positively correlated with DV PI(r=0.637,P=0.016),while TV-E/A was weakly negatively correlated with DV V/D(r=-0.355,P=0.043).Adverse pregnancy outcomes were noticed in 59 pre-eclampsia cases.The AUC of fetal right heart Mod-MPI and DV PI for predicting adverse pregnancy outcomes in pre-eclampsia cases was 0.897 and 0.848,respectively,without significant difference(Z=0.460,P=0.400).Conclusion Changes of right heart Mod-MPI and DV spectrum parameters in pre-eclampsia fetuses had high value for predicting adverse pregnancy outcomes.

Postnatal development of fetuses with a single umbilical artery:differences between malformed and non-malformed infants

Background:The presence of a single umbilical artery(SUA)is a fetal soft marker of congenital abnormalities.Among the most common related malformations,there are cardiological,nephrourological and digestive anomalies,most of which are considered to have a vascular etiology.There is an association between increased incidence of intrauterine growth retardation and adverse perinatal indicators,but whether this association is due to related anomalies or isolated SUA(SUA)is controvisal.Methods:We reviewed 96 cases of iSUA and non-isolated SUA(niSUA),diagnosed in a period of two years in a referral hospital for high-risk pregnancies.Data on prenatal explorations,including fetal ultrasonography and karyotyping,were obtained.niSUA was diagnosed when no malformations were found prenatally or in postnatal evaluation.Results:Sixty-six newborns(68.8%)had no other anomalies and 30(31.3%)presented with a variety of malformations including heart diseases,urophaties,digestive,nervous and musculoskeletal disorders,genetic abnormalities and complex malformations.Cardiological and nephrourological abnormalities were found to be the most frequent association with a SUA(both in 23.8%of malformed SUA newborns).Intrauterine growth restriction was not higher in iSUA newborns than in a normal population.Utrasound allowed optimal prenatal diagnosis in most cases.Conclusions:The prognosis of the fetus with a SUA is determined by the presence of other malformations observed by an expert sonographer.If no other findings are made,only a routine physical examination should be performed in newborns,but no other complementary examinations are required.

Utilising ductus venosus Doppler waveform and four-chamber view to screen for foetal cardiac malformation in early second trimester of pregnancy

Background Foetal echocardiography has become a diagnostic method to detect foetal congenital heart disease with high probability. However, it is not only time consuming and but also difficult to visualize outflow tract of foetus early in the second trimester of pregnancy, even for an experienced obstetric uhrasonographer. Recently, many methods for screening foetal cardiac anomalies were explored, but much more work is needed to develop an effective and suitable screening method. The aim of this study was to investigate the clinical significance of utilising the ductus venosus （DV） Doppler examination and the four-chamber view of heart to screen for foetal cardiac malformation in early second trimester of pregnancy. Methods Heart and DV of 401 consecutive foetuses in early second trimester （12^＋1- 17^ ＋6 weeks） in high risk pregnancies were examined with Acuson 128 xp/10 or Sequoia 512 ultrasound diagnostic systems. Absent or reversed flow during atrial contraction （A-wave） in the DV was defined as sufficiently abnormal to screen for foetal cardiac malformations. The foetal echocardiographic diagnosis was confirmed by postnatal echocardiography （or postmortem）. The sensitivities of screening tests were compared among the three methods： DV Doppler examination, four-chamber view alone, and the combination of both techniques.Results Satisfactory examinations were obtained in 383/401 foetuses （95%）. Thirty foetuses with cardiac abnormalities were confirmed by neonatal echocardiography （ or postmortem ）. The sensitivity of DV Doppler examination or four-chamber view alone is 63 % （19/30） and 60 % （ 18/30）, respectively. The sensitivity of combining information, DV Doppler flow waveform and four-chamber view, to screen for foetal cardiac malformation is 83% （25/30） and significantly better than that of either DV Doppler flow waveform or four chamber view alone （ P 〈 0. 05 ）. Conclusion Doppler flow waveform of DV can be used to screen for foetal cardiac malformation early in the second trimester. Combining information from Doppler flow waveform of DV and four-chamber view will improve the overall sensitivity of the screening.