Prenatal ultrasound diagnosis and quality control of fetal nuchal translucency. / èƒŽå„¿é¢ˆé¡¹é€æ˜Žå±‚äº§å‰è¶ å£°è¯Šæ–­åŠè´¨é‡æŽ§åˆ¶.

OBJECTIVES: In clinical ultrasound examinations, it is challenging to perform quality control on the images of each fetal nuchal translucency (NT) and crown-rump length (CRL). However, small measurement differences can increase the probability of false-positive or false-negative diagnosis. Therefore, it is necessary to establish a quality control system for fetal NT examination. This study aims to control the quality of fetal NT and CRL measurements, evaluate the accuracy of ultrasound physicians in early pregnancy NT measurements, and analyze the impact of increased fetal structure screening on the detection rate of chromosomal abnormalities. METHODS: Data were collected from cases before and after 12 months of NT examination quality control, with 2 214 before quality control and 2 538 cases after quality control. Three quality control data metrics were analyzed: NT multiple of median (NT-MoM), standard deviation (SD) of log10MoM [(SD) log10MoM], and the slope of NT on CRL (SNC). The performance of NT measurements was monitored through the individual CRL NT-MoM within the 0.9-1.1 MoM range of the normal median curve, while grouped based on different years of experience (<3 years, 3-6 years, >6 years), and NT-MoM values among these groups were compared. Data on NT thickening, structural anomalies, and chromosomal abnormalities were retrospectively analyzed during the quality control period. RESULTS: According to the curve equation of the American NTQR project group, the NT-MoM value before quality control was 0.921 7 MoM, the (SD) log10MoM value was 0.091 92, and the SNC value was 12.20%. After quality control, the NT-MoM value was 0.948 3 MoM, the (SD) log10MoM value was 0.094 81, and the SNC value was 11.43%. The comparison of NT-MoM values before and after quality control showed a statistically significant difference (P<0.000 1). The comparison of NT-MoM values measured by ultrasound physicians with different years of experience before and after quality control also showed statistically significant differences (P<0.000 1). The NT-MoM values for the 3-6 years and >6 years groups were higher after quality control (P<0.05), while the <3 years group showed no significant difference before and after quality control (P>0.05). After quality control, cases of NT thickening without significant structural abnormalities accounted for 19.05%, NT thickening with structural abnormalities accounted for 47.62%, and NT normal with structural abnormalities accounted for 33.33%. There were 36 cases of fetal heart abnormalities, accounting for 20.34% of the total abnormality rate, with a positive rate of 36% in chromosome tests. CONCLUSIONS: After quality control, ultrasound physicians measure NT more accurately, but differences among measurements remain. Measurements by experienced ultrasound physicians are closer to expected values, usually lower than expected. Monitoring fetal NT and CRL measurements helps improve measurement accuracy. Increasing structural screening during NT examinations, especially for the fetal heart, enhances the detection rate of chromosomal abnormalities.

A novel pathogenic deletion in ISPD causes Walker-Warburg syndrome in a Chinese family.

BACKGROUND: Walker-Warburg syndrome (WWS) is a genetically heterogeneous disease that often presents with complex brain and eye malformations and congenital muscular dystrophy. Mutations of the ISPD gene have been identified as one of the most frequent causes of WWS. OBJECTIVE: The current study aimed to identify the cause of severe congenital hydrocephalus and brain dysplasia in our subject. METHODS: Genomic DNA was extracted from the fetus's umbilical cord blood and peripheral venous blood of the parents. The genetic analysis included whole-exome sequencing and qPCR. Additionally, in silico analysis and cellular experiments were performed. RESULTS: We identified a novel homozygous deletion of exons 7 to 9 in the ISPD gene of the fetus with WWS. In silico analysis revealed a defective domain structure in the C-terminus domain of the ISPD. Analysis of the electrostatic potential energy showed the formation of a new binding pocket formation on the surface of the mutant ISPD gene (ISPD-del ex7-9). Cellular study of the mutant ISPD revealed a significant change in its cellular localization, with the ISPD-del ex7-9 protein translocating from the cytoplasm to the nucleus compared to wild-type ISPD, which is mostly present in the cytoplasm. CONCLUSION: The present study expands the mutational spectrum of WWS caused by ISPD mutations. Importantly, our work suggests that whole-exome sequencing could be considered as a diagnostic option for fetuses with congenital hydrocephalus and brain malformations when karyotype or chromosomal microarray analysis fails to provide a definitive diagnosis.

Pregnancy outcomes and factors affecting the clinical effects of emergency cerclage in twin pregnancies with cervical dilation and prolapsed membranes.

OBJECTIVE: To determine the effect of mid-trimester emergency cerclage in women with twin pregnancies with cervical dilation and prolapsed membranes, and to identify risk factors predicting spontaneous preterm birth (sPTB) before 28 weeks, after cerclage. METHODS: Retrospective analysis of twin gestations with cervical dilation and prolapsed membranes treated with emergency cerclage or expectant management (2015-2020). The primary outcomes were the rate of sPTB before 28 weeks and the gestational latency. Multiple logistic regression analysis was used to determine the factors associated with sPTB before 28 weeks, after cerclage. RESULTS: Ninety-seven women were included, cerclage (n = 58) or no cerclage (n = 39). Cerclage placement was associated with significantly lower incidence of sPTB before 28 weeks of pregnancy (34.5% vs 82.1%) and prolongation of the gestational latency (46.71 ± 27.52 vs 10.95 ± 11.71 days). Positive cervical culture (odds ratio [OR] 10.69, 95% confidence interval [CI] 1.82-62.95), pregnancy duration at diagnosis less than 22 weeks (OR 9.42; 95% CI 1.69-52.69) and cervical dilation at least 4 cm (OR 7.92; 95% CI 1.40-44.71) were found to be independent risk factors for sPTB before 28 weeks, after cerclage. CONCLUSION: Emergency cerclage in women with twin pregnancies with cervical dilation and prolapsed membranes was associated with an overall 40% decrease in sPTB before 28 weeks and a prolongation of latency by 5 weeks. The strongest predictor of sPTB before 28 weeks after cerclage was a positive cervical culture.

A novel nonsense mutation in the L1CAM gene responsible for X-linked congenital hydrocephalus.

BACKGROUND: Congenital hydrocephalus is a descriptive diagnosis of symptoms, that are present for numerous reasons, including chromosomal disorders, genetic mutations, intrauterine infection and hemorrhage, amongst other factors. Mutation of L1CAM gene is the most frequent cause of congenital hydrocephalus, contributing to approximately 30% of X-linked congenital hydrocephalus. METHODS: In the present study, we used whole-exome sequencing and Sanger sequencing to investigate an aborted male fetus present with severe congenital hydrocephalus at 24 weeks of gestation, whose mother had a history of two previous voluntary terminations of pregnancies as a result of hydrocephalus. Magnetic resonance imaging, an autopsy and electron microscopy were performed and the phenotypic changes were described. RESULTS: Whole-exome sequencing in the fetus, as well as variant segregation analysis, revealed a novel maternally derived hemizygous nonsense mutation (c.2865G>A; p. Y955*) in exon 21 of the L1CAM gene (NM_000425.4). Severe hydrocephalus was observed along with marked dilatation of lateral ventricles. An electron micrograph of the surface of lateral ventricle walls revealed a lack of ependymal cilia. CONCLUSION: The present study suggests that L1CAM mutation screening should be considered for a male fetus with isolated hydrocephalus, especially with a family history, which could facilitate prenatal diagnosis in a subsequent pregnancy.

Congenital aneurysm of the left atrium associated with double-outlet right ventricle in a trisomy-18 fetus: Case report and literature review.

Congenital aneurysm of the left atrium is a rare cardiac anomaly, most commonly detected between the 2nd and 4th decades of life in a symptomatic patient. We report a congenital aneurysm of the left atrium diagnosed at 24 weeks of gestational age, associated with other congenital heart diseases and 47XY, +18 karyotype. The literature of the left atrial aneurysm diagnosed by fetal echocardiography is also reviewed in this report.