The types of abnormalities and clinical significance in fetus with non-isolated cerebral ventriculomegaly / 实用医学杂志

Objective To analysis the common abnormalities in fetus with ventriculomegaly and clinical significance. Methods Collected from March 2010 to December 2016,298 cases of pregnant women whose fetus with ventriculomegaly and accepted the prenatal diagnosis of pregnancy,including 109 cases of isolated cerebral ventriculomegaly(IVM),and 189 cases of non-isolated cerebral ventriculomegaly(NIVM).They were divided into mild groups(10.0-11.9 mm),moderate group(12.0-14.9 mm)and severe group(≥15.0 mm)according to the width of the lateral ventricle. Results(1)The most common abnormality of the NIVM were neurodevelopmental system(37.30%,94/252);The second was ultrasonic soft index(27.78%,70/252).(2)The most frequent combi-nation in mild group was ultrasonographic soft mark anomalies(44.76%,47/105),followed by other ultrasonic indi-cators(18.10%,19/105).The abnormal incidence of central nervous system was higher in middle group(45.16%, 42/93),followed by ultrasonic soft index abnormality(21.51%,20/93).The abnormality of the central nervous sys-tem was 62.96%(34/54)in severe group,followed by an abnormal(14.81%,8/54).(3)There was a difference in the nervous system and the ultrasonic-soft indicator between the non-isolated lateral ventricle dilation with different lateral ventricle widths(P<0.001).There was no difference in cardiovascular abnormalities. Conclusion Prena-tal ultrasound revealed that fetus with cerebral ventriculomegaly should carefully examine whether other abnormali-ties existed to determine the prognosis of the fetus and whether intervention should be taken.There was a difference between the different types of lateral ventricle and the prognosis.

Pregnancy outcomes and neurodevelopment in 173 cases of mild or moderate fetal ventriculomegaly / 中华围产医学杂志

Objective To investigate pregnancy outcomes and neurodevelopment in fetuses with ventriculomegaly. Methods This was a cohort study of 173 gravidas with singleton pregnancy who were diagnosed with fetal ventriculomegaly by ultrasound in Prenatal Diagnostic Center of Nanfang Hospital Affiliated to Southern Medical University from March 2010 to July 2016. Thirty normal gravidas who received antenatal care in the same hospital and at the same period were selected as control. Clinical data were collected. Gravidas who had chosen to continue their pregnancy were followed up to monitor the variations of fetal ventricular. Fetal mild and moderate ventriculomegaly were respectively defined as a ventricular atrial width of 10-12 mm and >12 mm but <15 mm. Isolated ventriculomegaly (IVM) indicated those without any other ultrasound abnormalities, otherwise the case would be defined as non-isolated ventriculomegaly (NIVM). Among the 173 gravidas, 54 cases were mild IVM, 53 mild NIVM, 26 moderate IVM and 40 moderate NIVM. Fetuses with chromosome abnormalities were excluded from the study. Neonatal behavioral neurological assessment (NBNA) was used to analyze the neonatal neurodevelopment at the age of 7 days, and Bayley scales of infant development was used to evaluate the development of nervous system at the age of 6 months through analyzing their mental development index (MDI) and psychomotor development index (PDI). Statistical methods included t test, χ2 test (or Fisher's exact test), nonparametric test, Mann-Whitney test and multiple Kruskal-Wallis H test. Results (1) Among the 107 fetuses with mild ventriculomegaly, 72.9％ (78), 23.4％ (25) and 3.7％ (4) of them regressed, stabilized and progressed,respectively; however, among the 66 moderate cases, the figures were 45.4％ (30), 37.9％ (25) and 16.7％ (11) respectively (χ2=15.769, P<0.001). For those in the IVM and NIVM subgroups within the moderate ventriculomegaly group, significant difference was shown [17(65.4％), 8(30.8％) and 1(3.8％) vs 13(32.5％), 17(42.5％) and 10(25.0％), χ2=8.552, P=0.014], but not within the mild groups (χ2=2.412, P=0.299). (2) There were 164 gravidas who continued their pregnancy and delivered. Significant differences in NBNA score were observed between the ventriculomegaly group and the control (37.70±1.80 vs 38.53±1.38, t= - 2.424, P<0.05). Numbers of neonates with NBNA score < 36 and ≥ 36 points were 5(4.7％) and 101(95.3％) in the mild group, and 8(13.8％) and 50(86.2％) in the moderate group (χ2=4.231, P=0.004). There was significant difference in NBNA score between the IVM and NIVM subgroup within neither mild nor moderate group (χ2 were 0.210 and 0.201, P were 1.000 and 0.720). (3) Totally, 137 cases completed the assessment of nervous system development at the age of 6 months. There was significant difference in PDI score between the ventriculomegaly group and the control (90.50±10.85 vs 95.80±9.65, t= - 2.471, P=0.014), but not in MDI score (95.42+11.20 vs 99.50+12.00, t= - 1.786, P=0.076). (4) The comparison of the proportion of excellent, average and poor PDI scores: Significant differences were found between the IVM and NIVM subgroup within the moderate ventriculamegaly group and in the different intrauterine outcome groups [IVM vs NIVM groups: 3(15.0％), 16(80.0％) and 1(5.0％) vs 1(3.1％), 24(75.0％) and 7(21.9％),Z= - 2.097, P=0.036;intrauterine regression, stable and progress group: 9(10.6％), 75(88.2％) and 1(1.2％);3(6.5％), 37(80.4％) and 6(13.1％) vs 0, 2(2/6) and 4(4/6), χ2=19.808, P<0.001], but not between the mild and moderate vetriculamegaly group, or between the subgroups within the mild ones (Z were - 1.869 and - 1.946, P were 0.062 and 0.052). (5) The comparison of the proportion of excellent, average and poor scores of MDI: Significant difference was only found among the different intrauterine outcome groups[13(15.3％), 71(83.5％), 1(1.2％); 2(4.4％), 41(89.1％), 3(6.5％) vs 0, 5(5/6), 1(1/6); χ2=7.980, P=0.018], but not in any other comparisons (all P>0.05). Conclusions Prognosis of fetal ventriculomegaly is affected by co-existed abnormalities and intrauterine progression. Fetus with mild ventriculomegaly can also have risk of abnormal neural development, suggesting that we should pay much attention to such cases and a regular follow-up is required.

Analysis of the prognosis of isolated ventriculomegaly and outcome of imaging follow-up / 中华妇产科杂志

Objective To evaluate the clinical outcome of fetus diagnosed as mild and moderate isolated ventriculomegaly(IVM)and its correlation with imaging follow-up. Methods Totally,161 cases of single pregnancy whose fetus was diagnosed as mild or moderate IVM by ultrasound were administrated. Data of prenatal ultrasound examination, pregnancy outcomes, and the postnatal MRI results were collected. New borns' growth and development, language expression, movement coordination, auditory and visual function were followed up to evaluate the neurodevelopment. Results (1)Before birth:80.1%(129/161) of IVM disappeared before the delivery, 16.1%(26/161)remained stable, and 3.7%(6/161)continued to deteriorate.(2)Postnatal MRI: 8 cases(9.6%, 8/83)were diagnosed IVM, of which 3 cases were found additional abnormalities(1 case was the corpus callosum dysplasia and 2 cases were leukodystrophy). The additional abnormal detection rate was 3/8.(3)Postnatal assessments: There were 7 cases(8.9%, 7/79) neunatal behavioral neurological assessment (NBNA), 6 cases (7.6%, 6/79) Bayley scales of infant development (BSID)-psychomotor developmental index(PDI) and 3 cases (3.8%, 3/79) BSID-mental development index(MDI) whose scores were low. There was no significant difference of the NBNA and BSID scores between mild and moderate IVM (NBNA: x2=2.042,P=0.210; BSID-PDI: x2=-1.359,P=0.174; BSID-MDI: x2=-1.205,P=0.228). Follow-up of 9 cases(11.4%, 9/79)with low BSID score, 6 of them were found to be stable in the medial ventricle of the uterus, and the size of the lateral ventricle was normal after birth by ultrasound and MRI. Conclusions The majority of IVM fetuses have good prognosis, but there is also a risk of neurodevelopmental dysplasia. The postnatal follow-up should be paid attention to, and MRI should be performed as the postnatal imaging evaluation.

Mechanism of the "negative development" of carbon nanoparticles for the parathy-roid gland in thyroidectomy through expression contrast of vascular-related markers / 中国肿瘤临床

Objective: To investigate the anatomical characteristics of the parathyroid lymphatic system and the mechanism of the"negative development"of the carbon nanoparticles for parathyroid gland in thyroidectomy.Methods:This retrospective study used parathyroid tissue samples from patients that were obtained from archival records in the pathology department,including 45 cases of normal parathyroid gland tissues that were accidentally resected in thyroidectomy,10 cases of parathyroid adenomas,and 7 cases of parathyroid carcinoma.Ten cases of normal thyroid tissues were selected as positive control.Immunohistochemistry was performed using the antibodies specific for lymphatic endothelium,such as D2-40 and LYVE-1,and antibodies specific for vascular endothelial cell such as CD31 and CD34,to distinguish them from each other.Results:A total of 62 parathyroid glands samples were stained with vas-cular markers CD31,CD34 and lymphatic markers D2-40,LYVE-1 respectively(partial samples were stained unsuccessfully).Vascular vessels in the CD31 staining group were detected in 50 of 58 examined glands and the positive rate was 86.2%.In the CD34 staining group,positive rate was 100%(60/60).The positive cells were found in the central,periphery and vascular hilum of the glands.Howev-er,lymph vessels in the D2-40 staining group were detected from 17 out of 59 examined glands,with the positive rate of 28.8%;In the LYVE-1 staining group,positive rate was 39.6%(23/58).The positive cells were found in the membrane or vascular hilum,less frequent or undetectable in the central portion.Conclusions:Most of the parathyroid glands of adults might lack a lymphatic network.Only a few adult parathyroid glands had minority lymph vessels,and these lymphatics generally localized at the membrane area or in the vas-cular hilum, which could be one of the main and anatomical mechanisms resulting in drainage failure or obstruction of carbon nanoparticles and thus in parathyroid"negative development."

Feasibility and Accuracy of Magnetic Resource Image with Three-dimensional Reconstruction and Volume Measurement in Estimation of Fetal Weight / 中国医学影像学杂志

Purpose Full-term fetal weight is closely related to the choice of delivery mode and perinatal mortality rate.Our aim is to explore the feasibility of magnetic resource image (MRI) with three-dimensional reconstruction and volume measurement in estimating fetal weight and its accuracy compared to ultrasound (US) examination.Materials and Methods Analyzed the MRI volume measurement of 61 fetuses delivered within 7 days after M RI and ultrasound examination in our hospital between November 2013 and March 2016 using MRI three-dimensional reconstruction.The fetal weight estimated by MRI was calculated by the equation developed by Baker et al and the US estimation of fetal weight was performed according to Haldlock et al,the MRI and US estimation of fetal weight were compared.Results 60 fetuses were included and qualified MRI three-dimensional reconstruction models,one was excluded because of frequent movement.The MRI estimation of fetal weight and the birth weight correlated significantly (r=0.927,P＜0.05).The MRI estimation of fetal weight had a lower percentage of random error than US (3.4％ vs 5.0％,P＞0.05),as well as mean absolute error [(172+ 114) g vs (227± 171) g,P＜0.05],but a higher percentage of relative error ≤ 10％ than US (95.0％ vs 78.3％,P＜0.05),with an underestimation in 90.0％ fetuses compared with birth-weight.Concision Full-term fetal weight estimation by using MRI with three-dimensional reconstruction and volume measurement is feasible and more accurate than ultrasound,but lower than the actual weight.This method can be applied in estimating fetal weight in the case of ultrasound examination limited.

Prenatal diagnosis of single umbilical artery: implications for chromosomal abnormalities and neonatal outcome / 南方医科大学学报

<p><b>OBJECTIVE</b>To investigate the implications of a prenatal diagnosis of single umbilical artery (SUA) for chromosomal abnormalities and neonatal outcomes.</p><p><b>METHODS</b>From January, 2008 to June, 2012, color Doppler ultrasound identified 44 fetuses with SUA. Prenatal diagnoses with amniocentesis or umbilical blood sampling were subsequently ordered for routine chromosome karyotyping and the newborns were followed up for assessing the neonatal outcomes.</p><p><b>RESULTS</b>Of all the 44 fetuses, 24 had uncomplicated SUA, and 20 had other concurrent abnormalities (including 8 with abnormal ultrasound soft indexes and 12 with chromosomal abnormalities). The two groups of fetuses showed significant differences in gestational weeks at delivery and incidence of chromosomal abnormalities but not in neonatal weight, placenta weight or APGAR score.</p><p><b>CONCLUSIONS</b>Fetuses with a prenatal diagnosis of SUA and other development abnormities need to undergo prenatal chromosomal examination. For fetuses with uncomplicated SUA, careful ultrasound examination is necessary to avoid missed diagnosis of potential congenital abnormalities.</p>

Clinical significance and outcomes of fetal ventriculomegaly / 中华围产医学杂志

Objective To evaluate the clinical significance and prognosis of tetus with lateral ventriculomegaly.Methods We retrospectively analyzed 92 singleton pregnant women who were antenatally diagnosed with fetal ventriculomegaly by ultrasound in genetic conselling clinics,Department of Gynaecology and Obstetrics,Nanfang Hospital,Southern Medical University between August 2007 and August 2010.All participants were divided into three groups according to the width of the lateral ventricles:group A (10.0-12.0 mm,n＝50),group B (12.1-14.9 mm,n=38) and severe ventriculomegaly group (≥15.0 mm,n=4).All fetuses were followed up.Chi-square test(or Fisher's exact test),Bonfferoni method,Mann Whitney or Kruskal-Wallis test were used for statistics.Results In group A,B and severe ventriculomegaly group,18％ (9/50),65.8％(25/38)and 3/4 of fetuses were complicated with structural malformation,respectively (x2 =22.934,P =0.000),and statistical significance were found only between group A and B (x2 =20.798,P=0.000).The incidences of fetal chromosomal aberration were 4.0％ (2/50),7.9％ (3/38)and 0/4 in the three groups,respectively (x2＝0.878,P ＝ 0.645).Eventually,all four cases with severe cerebral ventriculomegaly were terminated.Among cases of mild ventriculomegaly,63 women continued the pregnancy (48 in group A and 15 in group B).The intrauterine improvement of group B was poorerthan that of group A (Z=-3.317,P =0.001).Respectively,three,ten and two cases of ventriculomegaly deteriorated,stabilized and regressed in group B,and the corresponding figures were 3,15 and 30 in group A.In group A,the prognosis of fetus with non-isolated ventriculomegaly was poorer than that of fetus with isolated ventriculomegaly (Z=-2.631,P=0.009).For neonates 14 days after birth (n=62),the rates of normal neonatal behavioral neurological assessment (NBNA) scoring were respectively 93.8％ (45/48) and 71.4％ (10/14) for groups A and B with statistical difference (Fisher's exact test,P =0.040).Bayley scales of infant development (BSID) used to evaluate infants at 12-month-old revealed that the psychomotor developmental index (PDI) between group A and group B had statistical difference (8,26 and 1 case of good,moderate and poor development in group A; one,seven and three cases in group B; Z=-2.203,P=0.043).However,the mental developmental index (MDI) between group A and B had no statistical difference.Twenty babies among the survived ones received magnetic resonance imaging (MRI) examination.The results showed that lateral ventricle width regressed in nine babies (45.0％) and progressed in one baby (5.0％).Ten cases (50.0％) did not change.The change of ventriculomegaly after birth was related to BSID evaluation.Better prognosis of fetuses were found in those with regressed ventriculomegaly (P=0.033).Conclusions Fetuses with mild ventriculomegaly (10.0 12.0 mm) have a favorable outcome.Further investigations,such as fetal development,chromosomal examination,intrauterine infection screening and MRI if necessary,are suggested for fetus with ventriculomegaly.Moreover,intensive intrauterine and postnatal follow-up is recommended.

Analysis of prenatal diagnosis results of 206 thalassemia families / 中华围产医学杂志

Objective To summarize the geographical distribution,phenotype and genotype data of 206 thalassemia families underwent prenatal diagnosis to provide information for clinical genetic counseling and avoid the birth of severe thalassemia children.MethodsTotally,206 thalassemia families were collected from Southern Medical University Nanfang Hospital from January 2008 to December 2009.Genomic DNA was extracted from peripheral blood,villus,amniotic fluid or cord blood from the couples or the fetuses.Gap-polymerase chain reaction (gap-PCR) and reverse dot blot (RDB) technology were used to detect the common α and β-thalassemia mutations.DNA sequencing was used to detect the rare mutations.Follow-up visit were done half a year after the fetuses were born. Results The 206 thalassemia families came from 12 provinces and areas across China,including Heilongjiang province.Mutations detected in α-thalassemia families included --SEA/,-α3.7/,-α4.2/,αCS α/ and αQS α/,which were all included in the testing kit. While there were 4 kinds of β-thalassemia mutations,Gγ+ (A γδβ)0,-28(A→C),CD54-58(-TATGGGCAACCCT) and CD37(G→A),could not be identified with routine testing kit. The 57 α-thalassemia families consisted of 11(19.3％) severe thalassemia,induding 8 Bart's hydrops syndrome and 3 Hb H disease,26(45.6％) heterozygote and 20(35.1％) normal infants,and the 149 β-thalassemia majors families consisted of 28 (18.8％) severe thalassemia,82(55.0％) heterozygote and 39 (26.2％) normal infants.Among the β-thalassemia heterozygotes,there was one 13-trisomy.Follow-up visit found that babies with Bart ' s hydrops syndrome (n =8),Hb H disease (n =3),β-thalassemia majors (n =28) and β thalassemia heterozygote combined with 13-trisomy(n=1) were aborted.Conclusions Thalassemia was found in some north area other than south of China,which should be paid more attention by clinicians.Gap-PCR and PCR-RDB technology are effective measures for thalassemia prenatal diagnosis in identifying major thalassemia fetuses before their birth,thus reduce the birth rate of thalassemia baby.But missed diagnosis might exist during the screening,so it is necessary to perform DNA sequencing on those patients with positive symptoms and negative common genetic diagnostic results.At the same time,prenatal diagnosis of chromosomal disorders should not be neglected for high-risk families.