A case of Aicardi-Goutières syndrome caused by TREX1 gene mutation.

Aicardi-Goutières syndrome (AGS) is a rare genetic disorder involving the central nervous system and autoimmune abnormalities, leading to severe intellectual and physical disability with poor prognosis. AGS has a phenotype similar to intrauterine viral infection, which often leads to delays in genetic counseling. In this study, we report a case with a prenatal diagnosis of AGS. The first fetal ultrasound detected bilateral lateral ventricle cystic structures, and fetal MRI was performed to identify other signs. The right parietal lobe signal showed cerebral white matter abnormalities, and fetal brain development level was lower than that of normal fetuses of the same gestational age. Whole-exome sequencing revealed that the fetus carried the TREX1:NM_033629.6:exon2:c.294dup:p. C99Mfs*3 variant, suggesting that the c.294dup mutation of the TREX1 gene was the pathogenic mutation site, and the final comprehensive diagnosis was AGS1. In this article, we also reviewed the previous literature for possible phenotypes in the fetus and found that microcephaly and intrauterine growth retardation may be the first and most important markers of the intrauterine phenotype of AGS.

Relationship between fetal ultrasonic soft markers and adverse pregnancy outcomes during the first trimester / 中华超声影像学杂志

Objective:To explore the relationship between soft markers found in the first trimester (11-13 + 6 gestational weeks) ultrasound screening and fetal adverse pregnancy outcomes. Methods:Single pregnancy fetuses were selected from the Multicenter Clinical Study of First Trimester Screening in China during August 2017 to August 2020. The types and detection rate of soft markers during the first trimester were compared. The correlation between positive soft markers and adverse pregnancy outcomes was analyzed by binary Logistics regression.Results:A total of 16 625 fetuses with complete follow-up outcomes were included in the group. Six hundred and seven ultrasonic soft markers were detected in 556 fetuses with positive soft markers during the first trimester, and the first four most frequently occurred were increased nuchal translucency (NT) (2.08%, 345/16 625), echogenic intracardiac focus (EIF) (0.94%, 156/16 625), hypoplasia of fetal nasal bone (0.20%, 34/16 625), single umbilical artery (SUA) (0.19%, 31/16 625). Among 556 fetuses, the incidence of adverse pregnancy outcome in fetuses with two or more positive soft markers was 32.50% (13/40), which was significantly higher than fetuses with single positive soft marker (11.05%, 57/516), and the difference was statistically significant (χ 2=5.055, P<0.001). The incidence of adverse pregnancy outcome in positive soft markers fetus associated with structural abnormalities was 80.77% (21/26), which was significantly higher than fetuses with isolated positive soft marker (12.08%, 64/530), and the difference was statistically significant (χ 2=90.310, P<0.001). Binary logistic regression analysis showed choroid plexus cyst (CPC), SUA, echogenic bowel (EB), absent/reversed a-wave of ductus venosus, hypoplasia of fetal nasal bone, increased NT, and EIF were closely related to the adverse pregnancy outcomes (all P<0.05). However, there were no significant correlations between tricuspid regurgitation (TR), pyelectasis (PYE) and fetal adverse pregnancy outcomes (all P>0.05). Conclusions:The ultrasonic soft markers during the first trimester are of great significance in predicting fetal adverse pregnancy outcomes. For multiple positive soft markers or positive soft markers combined with structural abnormalities, more attention should be paid to them and comprehensive evaluation is required to be carried out.

Ultrasonographic diagnosis of fetal cleft lip and palate during first-trimester (11-13 + 6 gestational weeks) / 中华超声影像学杂志

Objective:To explore the clinical value of prenatal ultrasound in diagnosis of fetal cleft lip and palate during first-trimester (11-13 + 6 gestational weeks). Methods:Ultrasonographic images were retrospectively selected from those fetuses who underwent first trimester scanning during July 2017 to June 2020 in the Affiliated Suzhou Hospital of Nanjing Medical University. Fetal facial mid-sagittal section and the retronasal triangle (RNT) section were combined together to evaluate whether the fetuses had cleft lip and palate (CLP) or not. All fetuses were followed up to birth or induced abortion.Results:A total of 5 520 fetuses were enrolled, with crown-rump length (CRL) between 45-84 mm. Seven cases of different types of CLP were detected by the 2 combined sections, including 4 cases with unilateral CLP, 1 case with median CLP, and 2 cases with bilateral CLP, which were confirmed by follow-up. In addition, 2 cases of isolated cleft lip (CL) were missed.Conclusions:Combination of fetal facial mid-sagittal section and RNT section is useful for the early diagnosis of fetal cleft lip and palate during first-trimester scanning.