Accuracy of ultrasonography in diagnosis of fetal central nervous system malformation

BACKGROUND Prenatal examination is an important measure for the screening and diagnosis of fetal malformations.AIM To investigate the accuracy of ultrasonography in the diagnosis of fetal central nervous system(CNS)malformations.METHODS One hundred and thirteen pregnant women suspected of having fetal CNS malformations were examined at our hospital from December 2018 to October 2020 using two-dimensional ultrasonography and three-dimensional ultrasonography,respectively.RESULTS According to the pathological results,there were 79 cases of CNS malformations and 34 cases of non-CNS malformations among the 113 pregnant women suspected of having fetal CNS malformation.Fifty-one cases of CNS malformation and 26 cases of non-CNS malformation were detected by two-dimensional ultrasonography,and 73 cases of CNS malformation and 30 cases of non-CNS malformation were detected by three-dimensional ultrasonography.The diagnostic sensitivity(92.41%)and accuracy(91.15%)of three-dimensional ultrasonography were higher than those of two-dimensional ultrasonography(64.56% and 68.14%,respectively)(P=0.000).The specificity of three-dimensional ultrasonography(88.24%)was higher than that of two-dimensional ultrasonography(76.47%);however,the difference was not significant(P=0.203).CONCLUSION Three-dimensional ultrasonography has high application value in the diagnosis of fetal CNS malformations.In addition,the image quality is clear,and the diagnostic sensitivity and accuracy are high.

Ultrasound of the Siren Syndrome (Sirenomelia) in the District of Bamako Apropos of a Case

Sirenomelia is a rare fetal malformation with more or less complete fusion of both lower limbs consistently associated with bilateral renal abnormalities. The positive diagnosis can be made antenatally by ultrasound during the first trimester of pregnancy but often before the 22 weeks of amenorrhea. The objective was to think about the possible diagnosis by ultrasound in front of the urinary anomalies and the ologiamnios during the morphological study of the second trimester of pregnancy. We report a case of sirenomelia in a 25-year-old lady as part of the routine prenatal assessment suspected and confirmed during the morphological ultrasound of the second trimester of pregnancy and confirmed after the termination of pregnancy in Mali in the Health Center of Reference of commune III of the district of Bamako. The morphological ultrasound made it possible to diagnose the malformation of the urinary tract, the amniotic fluid and to make the therapeutic decision of medical termination of pregnancy at the end of confirming the siren syndrome.

The present and future of whole-exome sequencing in studying andtreating human reproductive disorders

The causes of recurrent spontaneous abortion (RSA) and fetal malformations are multifactorial and unclear in most cases. Environmental, maternal, and genetic factors have been shown to contribute to these defects. Whole-exome sequencing (WES) is widely used to detect genetic variations associated with human diseases and has recently been successfully applied to unveil genetic causes of unexplained recurrent spontaneous abortion (URSA) and fetal malformations. Here, we review the current discovery and diagnosis strategies to identify the underlying pathogenic mutations of URSA and fetal malformations using WES technology and propose to further develop WES, both to advance our understanding of these diseases and to eventually lead to targeted therapies for reproductive disorders.

Use of amniocytes for prenatal diagnosis of 22q11.2 microdeletion syndrome： a feasibility study

Background A study of prenatal genetic diagnosis for 22q11.2 microdeletion, which has a wide phenotypic spectrum that involves almost all organs, is rarely reported in China. This study aimed to explore the prevalence of 22q11.2 microdeletion in congenitally malformed fetuses via the fluorescent in situ hybridization （FISH） technique and to investigate the feasibility of use of amniocytes to diagnose 22q11 .2 microdeletion syndrome prenatally. Methods The study enrolled 23 cases of fetal cardiac malformation, as indicated by ultrasound in Beijing Anzhen Hospital and 14 cases of non-cardiac malformation, as determined by type-B ultrasound in Beijing Anzhen Hospital and other hospitals. Amniotic fluid was obtained by amniocentesis before odinopoeia, and the stillborn fetuses of the induced labor were preceded to autopsy. The amniotic fluid of 20 cesarean deliveries during the same period of time was used as a control. The TUPLE1 gene in the amniotic fluid of malformed and normal fetuses was assessed by the FISH method. Results The prevalence rates of the TUPLE1 gene deletion in the amniotic fluid cells from fetuses with cardiac deformations and fetuses without such malformations were 43.5% and 57.1%, respectively. The deletion of TUPLE1 was significantly associated with fetal malformation. Conclusion Chromosome 22q11.2 microdeletion is one of the major factors leading to fetal congenital malformations, and prenatal FISH screening for 22q11 .2 microdeletion syndrome is technically feasible using amniocytes.