Reference values for cerebral ventricular size in neonates with gestational age of 33 +0-41 +6 weeks / 中华围产医学杂志

Objective:To establish the reference values and neurological intervention cutoffs for cerebral ventricular size in neonates born at 33 +0-41 +6 weeks of gestation and to investigate the influential factors and reliability of the related indices. Methods:This study prospectively recruited 1 370 1-to 7-day neonates born or hospitalized at the Hunan Provincial Maternal and Child Health Care Hospital from February to August 2021. All the neonates, who were born between 33 +0 and 41 +6 weeks of gestation, were subjected to ultrasound scanning to obtain the indices, including ventricular index (VI), anterior horn width (AHW), thalamo-occipital distance (TOD), and ventricular height (VH). The reference value and neurological intervention cutoff for each index were set. Quantile regression was used to estimate the correlation between each index and continuous covariates [gestational age at birth (GA) and birth weight (BW)]. Mann-Whitney U test was used to analyze the differences in the medians of indices in different categorical covariates groups (males/females, left/right lateral ventricles, vaginal delivery/cesarean section, and singleton/multiple births). Intraclass correlation coefficient (ICC) calculated by a two-way mixed effect model and absolute agreement was used to access intra-rater reliability; ICC via a two-way random effect model and absolute agreement was utilized to rate inter-rater reliability (pool reliability: ICC below 0.50; moderate reliability: ICC between 0.50 and 0.75; good reliability: ICC between 0.75 and 0.90; excellent reliability: ICC exceeding 0.90). Results:The upper limits of reference values for AHW, TOD, VI, and VH in 555 (40.5%) preterm neonates were 2.7-3.5 mm, 20.9-22.5 mm, 12.6-13.7 mm, and 3.8-4.9 mm, and in 815 (59.5%) term newborns were 3.4-4.3 mm, 18.6-21.3 mm, 14.2-14.7 mm, and 3.4-3.8 mm, respectively. The cutoff of neurosurgical intervention for each index was the upper limit of reference value plus 4 mm. AHW median was positively correlated with GA [partial regression coefficient (PRC): 0.12, P<0.05], while TOD and VH medians were negatively correlated with GA (PRC:－0.31 and－0.06, both P<0.05). VI, AHW, and TOD medians were positively associated with BW (PRC: 0.46, 0.23, and 0.97, all P<0.05). The medians of VH, AHW, and TOD in the left cerebral ventricular exceeded those in the right cerebral ventricular, respectively (VH: 2.0 vs 1.8 mm, U=836 071.50; AHW: 1.8 vs 1.7 mm, U=874 141.50; TOD: 13.6 vs 12.5 mm, U=738 409.00, all P<0.05). The medians of AHW and VI in male neonates were greater than those in female newborns, respectively (AHW: 1.8 vs 1.7 mm, U=834 124.00; VI: 11.1 vs 10.8 mm, U=884 156.50, both P<0.05). The neonates delivered vaginally had greater AHW median, but smaller TOD median than those delivered by cesarean section (AHW: 2.0 vs 1.6 mm, U=685 546.00, P<0.001; TOD: 13.1 vs 12.9 mm, U=850 797.00, P=0.010). The AHW median in singleton newborns exceeded that in multiple births (1.9 vs 1.4 mm, U=356 999.00, P<0.001). The lower limits of 95% confidence intervals for intra-rater and inter-rater ICCs exceeded 0.75 and 0.50, respectively. Conclusion:Reference values and surgical intervention thresholds for VI, AHW, TOD, VH of newborns with a gestational age of 33 +0-41 +6 weeks were preliminarily established, and the reliability of these indicators were verified.

Prenatal ultrasound analysis of 200 fetuses with trisomy 21 syndrome / 中国医师杂志

Objective:To analyze the prenatal ultrasound manifestation of trisomy 21 syndrome and investigate the clinical significance of prenatal ultrasound in screening 21-trisomy syndrome.Methods:A retrospective analysis of prenatal ultrasound results of 200 fetuses diagnosed with 21-trisomy syndrome by karyotype from May 2017 to August 2018 in Hunan Provincial Maternal and Child Health Care Hospital. Ultrasound abnormalities were divided into isolated soft markers, simple structural abnormalities, complex ultrasound markers. The relationship between these markers and trisomy 21 was analysed.Results:200 fetuses with trisomy 21 syndrome diagnosed by karyotype, in which 39 cases (19.5%, 39/200) abnormalities were detected by ultrasound, including soft indexes and structural abnormalities/other abnormalities. The rates of isolated soft indexes, simple structural abnormalities/ other abnormalities and complex ultrasound markers were 15.5%(31/200), 2.0%(4/200), 2.0%(4/200), respectively. The most common of soft markers in the first trimester was thickened nuchal translucency (4/18), thickened nuchal fold (13.19%, 24/182) in the second trimester, followed by nasal bone dysplasia, tricuspid regurgitation and polyhydramnios (1.65%, 3/182). The most common structural malformations in the second trimester was cardiovascular malformation (3.30%, 6/182).Conclusions:Prenatal ultrasound has a role to play in the screening of 21-trisomy syndrome, but exerts certain limitations. It is necessary to strengthen the understanding of the ultrasonographic features of trisomy 21 and improve the detection rate of abnormal indicators. Meanwhile, it should be combined with serological screening, non-invasive prenatal testing technology to increase the detection rate of trisomy 21.

Diagnosis and treatment for incarceration of retroverted uterus during pregnancy: a report of four cases / 中华围产医学杂志

Objective:To investigate the diagnosis and treatment for incarceration of retroverted uterus in pregnant women.Methods:This study retrospectively recruited four gravidas with incarcerated retroverted uterus indicated by prenatal ultrasonography in Hunan Provincial Maternal and Child Health Care Hospital from August 2016 to February 2020. Clinical features, diagnosis, and treatment of these cases were described.Results:Vaginal bleeding or discharge were the main symptoms of the four cases and prenatal ultrasound suggested incarcerated retroverted uterus. Obstetric examination was performed for all cases, except one due to small gestational age, and bulging posterior fornix was found in one case. Three cases were diagnosed in the third trimester and one at 14 gestational weeks. In light of gestations, symptoms, and anterior uterine muscle thickness, three patients underwent planned cesarean sections with a median abdominal incision and a superior transverse uterine incision after fetal lung maturation acceleration. Uterus involution was good, and the incisions healed well in these three cases, with all neonates in good condition. Following a two-week knee-chest position treatment, the position of her uterus and bladder turned normal in case 4.Conclusions:Considering the atypical clinical presentations, clinicians should be aware of incarceration of retroverted uterus when related symptoms or signs were presented. Placenta previa might be the comorbidity and should be differentially diagnosed. The timing of a cesarean section is supposed to be determined based on multiple factors. Moreover, a median abdominal incision and a superior transverse uterine incision are recommended, and an anatomic landmark is often required for the latter's accurate position.

Prenatal sonographic characteristics of fetal hepatic hemangioma and analysis on its misdiagnosis and missed diagnosis / 中华超声影像学杂志

Objective:To explore the causes of misdiagnosis and missed diagnosis of fetal liver, hemangioma by prenatal ultrasound, aimed at improving the diagnostic rate of fetal liver hemangioma by prenatal ultrasound.Methods:Six cases of misdiagnosed fetal liver hemangioma in Hunan Province Maternal and Child Health Hospital between January 2016 and October 2018 were selected. In these cases, live births were tracked until they were 6-24 months old, while autopsy was carried out on induced fetuses. These failed cases were analyzed retrospectively, in terms of their scanning methods, ultrasonographic features and pregnancy outcomes.Results:Three cases were misdiagnosed by perinatal ultrasound: the time for the first discovery of masses in these cases was 37 + 3 weeks, 39 + 5 weeks and 37 + 4 weeks respectively. All of these tissues appeared as mixed echogenic masses and were misdiagnosed as hepatoblastoma. The other three cases were categorized as prenatal ultrasound missed diagnosis: in one case, prenatal ultrasound examination failed to detect the disease in question during the whole pregnancy, while ultrasound examination revealed lesions 2 days after birth; the other case didn′t see the detection of hepatic hemangioma was not detected until the 40th week of pregnancy by ultrasound in another case, as prenatal ultrasound at 31 + 6 weeks and 37 + 4 weeks showed nothing abnormal; yet prenatal ultrasound examination of the third case showed no findings in which at 26 + 6 weeks pregnant, but ultrasound performed at 33 weeks into gestation suspected slightly hypoechoic area in the liver, which was indicated hepatic hemangioma by MRI. Among the 6 cases, 2 of the induced fetuses were confirmed as hepatic capillary tumor by autopsy and pathological examination by with the consents of their family; four live births were confirmed to be hepatic hemangioma by contrast-enhanced CT scan and clinical follow-up observation. Conclusions:Multi-angle and multi-section scanning technique should be adopted in prenatal ultrasound examination of fetal liver. Mean while observations must also be made of any changes in the hepatic vein and any displacement of the peripheral organs of the liver, while ultrasonic images and color Doppler flow imaging features of the lesions are further analyzed. These actions lead to an improvement in the diagnostic accuracy of fetal liver hemangioma, which serves as a useful clinical guide to active and effective intervention measures.

Prenatal diagnosis of monochorionic-diamniotic twins discordant for 45,X/46,XX mosaicism / 中华医学遗传学杂志

OBJECTIVE@#To explore the prenatal screening and diagnosis for a pair of monochorionic-diamniotic (MCDA) twins discordant for 45,X/46,XX mosaicism.@*METHODS@#Amniotic fluid samples were taken from both twins for whom non-invasive prenatal testing has signaled a high risk for sex chromosomal abnormality. Uncultured amniotic fluid was analyzed by fluorescence in situ hybridization (FISH) and single nucleotide polymorphism array (SNP-array). Conventional G-banded karyotyping analysis was performed on the cultured amniotic fluid.@*RESULTS@#Metaphase chromosome analysis showed that one of the twins had a mos 45,X[11]/46,XX[26] karyotype, while the other had a normal karyotype. FISH and SNP-array applied on uncultured amniotic fluid revealed about 30% mosaicism in one of the twins. The twins were confirmed to be monozygotic by SNP-array analysis.@*CONCLUSION@#To avoid confusion arising from discordant karyotypes in MCDA twins with abnormal non-invasive prenatal testing (NIPT) results, dual amniocentesis should be carried out to obtain amniotic fluid samples for chromosomal as well as molecular analysis. To determine the ratio of 45,X and 46,XX cells in Turner syndrome can provide valuable information for prenatal genetic counseling.

The clinical significance of ultrasonography combined with scrological detection in the screening of trisomy 21 / 中国医师杂志

Objective To investigate the clinical significance of ultrasonography combined with scrological detection in the screening of trisomy 21.Methods The clinical data of 2 281 pregnant women who have received prenatal ultrasound examination,scrological detection and prenatal diagnosis in our hospital from January 2014 to March 2016 were retrospectively analyzed.All the fetuses had ultrasound abnormal or/and 21-trisomy syndrome high risk with scrological detection.The detection rate of trisomy 21 was observed when ultrasonography combined with scrological detection.The detection rate was compared between the two methods respectively.Results Among 2 281 pregnant women who received prenatal diagnosis,68 fetuses with trisomy 21 were diagnosed by fetal karyotype,the detection rate was 2.98％ (68/2 281);There were 879 cases of merely ultrasound abnormal,27 of them were trisomy 21,the detection rate was 3.07％ (27/879);1 336 cases were merely high risk of 21-trisomy syndrome,34 of them were trisomy 21,the detection rate was 2.54％ (34/1 336);There were 66 cases of both ultrasound abnormal and 21-trisomy syndrome high risk,7 of them were trisomy 21,the detection rate was 10.61％ (7/66).The method of joint use is higher than the independent method,with statistically significant difference (P ＜ 0.05).Conclusions Ultrasonography combined with scrological detection have good application value in the screening of trisomy 21 syndrome.

Measurement of fetal optic tract diameters with three-dimensional ultrasound / 中国医师杂志

Objectives To construct reference range of fetal optic tract mean diameter and to report the measured optic tract mean diameter in fetuses with agenesis of the septum pellucidum (SP).Methods Three-dimensional volumes of the optic chiasm were acquired in 254 normal fetuses during routine sonographic examination at 21 ～ 40 weeks' gestation and the diameters of posterior left and right optic tracts were measured offline.A polynomial regression approach was used to calculate reference charts for the fetal optic tract mean diameter.In addition,16 three-dimensional volumes were acquired in fetuses with SP agenesis for offline measurement of optic tract diameter.The complete follow-up data were obtained in 7 of these 16 cases.Results In normal fetuses,the optic tract diameter increased linearly throughout gestation.Normal charts and equations were constructed.Among 7 fetuses with SP agenesis and complete follow-up,one had postnatal normal vision,two had hypoplastic optic tract,and four underwent termination of pregnancy.Three cases of normal childbirth were tested after the baby was born as a bundle of apparent dysplasia,including 1 case of neonatal characterized by lack of vision at the one year old and 2 cases of impaired vision.Four cases of termination of pregnancy included 1 case with tracking pathological confirmation of optic nerve hypoplasia,and the other 3 cases without tracking the pathological results.Conclusions We present new reference charts for fetal optic tract mean diameter.In fetuses with agenesis of the SP,sonography of the optic tract might be a useful tool to assess its development and may help prenatal counseling.