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BACKGROUND: Posterior fossa malformation (PFM) is a relatively uncommon prenatal brain malformation. Genetic diagnostic approaches, including chromosome karyotyping, copy number variant (CNV) testing, and whole-exome sequencing (WES), have been applied in several cases of fetal structural malformations. However, the clinical value of appropriate genetic diagnostic approaches for different types of PFMs has not been confirmed. Therefore, in this study, we aimed to analyze the value of different combined genetic diagnostic approaches for various types of fetal PFMs. METHODS: This retrospective study was conducted at Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing Maternal and Child Health Care Hospital. Fifty-one pregnant women diagnosed with fetal PFMs who underwent genetic testing in our hospital from January 1, 2017 to December 31, 2022 were enrolled; women with an isolated enlarged cisterna magna were excluded. All participants were categorized into two groups according to the presence of other abnormalities: isolated and non-isolated PFMs groups. Different combined approaches, including karyotype analysis, CNV testing, and trio-based WES, were used for genetic analysis. The detection rates of karyotype analysis, CNV testing, and WES were measured in the isolated and non-isolated groups. RESULTS: In isolated PFMs, pathogenic/likely pathogenic (P/LP) CNVs were detected in four cases (36.36%, 4/11), whereas G-banding karyotyping and WES showed negative results. In non-isolated PFMs, a sequential genetic approach showed a detection rate of 47.5% (19/40); karyotyping revealed aneuploidies in five cases (16.67%, 5/30), CNV testing showed P/LP CNVs in five cases (16.13%, 5/31), and WES identified P/LP variants (in genes CEP20, TMEM67, OFD1, PTPN11, ARID1A, and SMARCA4) in nine cases (40.91%, 9/22). WES showed a detection rate of 83.33% (5/6) in fetuses with Joubert syndrome. Only six patients (five with Blake's pouch cyst and one with unilateral cerebellar hemisphere dysplasia) survived. CONCLUSIONS: We recommend CNV testing for fetuses with isolated PFMs. A sequential genetic approach (karyotyping, CNV testing, and WES) may be beneficial in fetuses with non-isolated PFMs. Particularly, we recommend WES as the first-line genetic diagnostic tool for Joubert syndrome.

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Variaciones en el Número de Copia de ADN , Secuenciación del Exoma , Cariotipificación , Diagnóstico Prenatal , Humanos , Femenino , Variaciones en el Número de Copia de ADN/genética , Embarazo , Cariotipificación/métodos , Secuenciación del Exoma/métodos , Diagnóstico Prenatal/métodos , Adulto , Estudios Retrospectivos , Pruebas Genéticas/métodos , Fosa Craneal Posterior/anomalías

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Objective:To explore the diagnostic value of ultrasound in posterior fossa anomalies (PFA) at 11-13 + 6 gestational weeks by measuring brainstem (BS), brainstem-to-occipital bone (BSOB) diameter and BS/BSOB ratio. Methods:A total of 209 normal fetuses (control group) were randomly selected from Beijing Obstetrics and Gynecology Hospital, Capital Medical University, between March 2018 and November 2021. Reference ranges for BS, BSOB diameter and BS/BSOB ratio were obtained on the mid-sagittal view of the fetal profile and the relationship of three parameters and crown-rump length (CRL) was investigated. The intra- and inter-observer reliabilities were determined by intraclass correlation coefficient (ICC) in 30 normal fetuses. Fourteen fetuses diagnosed with PFA in the same period including 10 cases of cystic posterior fossa malformations (cPFM) and 4 cases of open spine bifida (OSB) were retrospectively selected to compare BS, BSOB diameter and the BS/BSOB ratio with control group.Results:BS and BSOB diameters were successfully obtained in all control fetuses (100%), and the intra- and inter-observer reliabilities for BS and BSOB diameters were good (ICC=0.877, 0.846 and 0.939, 0.895). In the control group, BS and BSOB diameter linearly correlated with CRL ( r=0.867, 0.794; all P<0.001), while the BS/BSOB ratio was 0.75 (0.71, 0.79). There were significant differences of BSOB diameter and BS/BSOB ratio between control group and PFA group (all P<0.05). Except for one isolated vermian hypoplasia (VH), the BSOB diameters in 9 (90%) cases of cPFM were above the 95th percentile of the calculated normal range and were below the 5th percentile in 4(100%) cases of OSB.Except for one isolated VH, the BS/BSOB ratio in 9 (90%) cases of cPFM was below the 5th percentile of the calculated normal range. The BS/BSOB ratio in 4 (100%) cases of OSB was above the 95th percentile of the calculated normal range. Conclusions:The measurements of BS and BSOB diameter are feasible with good repeatability. Abnormal BSOB diameter and BS/BSOB ratio are suggestive for PFA. The posterior fossa of isolated VH can be normal in the first trimester.

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Purpose To assess the haemodynamic change of fetus with nervous system abnormalities by using spectral Doppler ultrasound.Materials and Methods Twenty-two fetuses with nervous system abnormalities diagnosed by ultrasound examination in Beijing Obstetrics and Gynecology Hospital,Capital Medical University,September,2015 to May,2016 were chosen.Fetus gestational week was 20-24 weeks.All Fetuses with abnormalities in nervous system were confirmed by autopsy and image examination after birth.Meanwhile,50 cases of normal fetuses with same gestational week were chosen as control group.Assessment indexes of spectral Doppler ultrasound between the two groups were compared,including myocardial performance index (MPI) of left ventricle (automatic survey),middle cerebral artery (MCA),umbilical artery (UA) and heart rate.Results MPI in control group and in simple nervous system abnormal group were compared,the difference was statistical significant (0.44±0.05 vs 0.48±0.08,P＜0.05).MCA resistance index in the two groups showed statistically significant difference (0.80±0.06 vs 0.88±0.14,P＜0.05).The difference of other indexes showed no statistical significant (P＞0.05).Conclusion MPI automatic survey is reliable and convenient for assessing cardiac function of fetus.There is a certain change of haemodynamic for fetus with abnormal nervous system and normal ones,which is represented by decline of fetus cardiac function and increase of MCA resistance.Spectral Doppler ultrasound can provide more information and evidences for intrauterine monitoring of fetus with abnormal nervous system.

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Objective To study the correlation of the serum albumin level on the first day of life and the mortality rate in preterm infants .Method Premature infants admitted to the neonatal intensive care unit between January 2015 and December 2015 were recruited for study .Preterm infants were assigned into low level group ( <25 g/L ) , medium level group ( 25 ~30 g/L ) and high level group ( >30 g/L ) according to serum albumin level on the first day after birth .To compare the treatment and related prognostic factors among the three groups with χ2 and F tests.Besides, multivariate logistic regression analysis was used to predict the relative factors of premature infant mortality .Result A total of 364 premature infants were collected, and the mean serum albumin concentration was (27.9 ±5.7) g/L.There were 92 cases of low level group, 179 cases of moderate level group and 93 cases of high level group.There was no significant difference in gender , gestational age , birth weight and gestational age among the preterm infants (P>0.05).The pH, base excess value of first blood gas after birth and the percentage of prenatal steroid hormone in premature infants were lower than those in medium and high level group .The percentage of prenatal eclampsia and Lac value were higher than that of medium group and high level group , and the difference was statistically significant (P<0.05).There were no statistical differences among three groups in the proportion of mechanical ventilation , the duration of mechanical ventilation and oxygen , the length of hospital stay and the incidence rate of patent ductus arteriosus , intracranial hemorrhage , bronchopulmonary dsyplasia, necrotizing enterocolitis, retinopathy of prematurity and periventricular leukomalacia (P>0.05). The incidence of respiratory distress syndrome , sepsis and mortality in the low level group were higher than that of the other groups, and the differences were statistically significant (P<0.05).Multivariate logistic regression analysis showed that low birth weight (OR=1.233, P=0.005), serum albumin concentration (<25 g/L) (OR=3.453, P=0.020), and the complication of respiratory distress syndrome and sepsis (OR=1.363、2.611, P =0.006、0.004) were independent predictors of mortality in preterm infants . Albumin levels lower than 22.8 g/L is associated with mortality , with a sensitivity of 72%and a specificity of 85%.Conclusion The decrease of serum albumin level on the first day of life after birth can be used as an independent risk factor for predicting mortality in premature infants .

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Objectives To explore the clinical value of preoperative three-dimensional ultrasound imaging for ovarian tumors for reflecting the anatomy postoperatively.Methods Forty-seven patients with ovarian cystic-solid or solid masses from Beijing Obstetrics and Gynecology Hospital,Capital Medical University were evaluated by two-dimensional (2D) and three-dimensional (3D) ultrasound examination within one week before surgery from January 2008 to December 2009.Every ovarian mass was examined by three-dimensional ultrasound and tomographic ultrasound imaging (TUI) and the results was compared with the specimen postoperatively.Results Forty-seven ovarian masses were confirmed by pathology,including 23 benign masses and 24 malignant masses (six borderline tumors).Compared with the postoperative specimens,the accuracy of preoperative 3D ultrasound imaging of ovarian tumors for the anatomical structures was 89.4％ (42/47).The misdiagnosis causes in 5 cases included failure to detect tiny papillae on the Sturface and small cysts in the mass,failure to display the compressed structures accurately,wrongly believe the teeth on the tumor wall as papillae and wrongly believe two adjacent ovarian tumors as one unilateral mass.Conclusions Compared with postoperative specimens,the anatomy of ovarian tumors could be reflected accurately by 3D ultrasound imaging preoperatively.It could be helpful for differential diagnosis between benign and malignant ovarian tumors and the decision of surgical plan.

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Objective To discuss the worthiness of real-time three-dimensional echocardiography in researching normal fetal heart ventricle growth and systolic function. Methods End-systolic volume(EDV),end-diastolic volume(ESV), struggle volume(SV) and ejection fraction(EF) of 54 normal fetal were acquired from 3-D data by Qlab software. The relation between ventricular growth with pregnant week was analysed and the difference of the volume and systolic function between left ventricle with right ventricle were compared. Results Ventricular volume of normal fetal heart (EDV,ESV,SV) were all increased with the gestational ages,there was linear relativity between them,while EF was not increased with pregnant weeks,there was no linear relativity between them. There was no statistics difference on EDV and ESV between left ventricle and right ventricle, while there was statistics difference on SV, EF between them. Conclusions The image of fetal endocarium could be derived clearly by real-time three-dimensional echocardiography, which help to get fetal heart ventricular volume and to study fetal heart growth and function.