Clinical application of cervical shear wave elastography in predicting the risk of preterm delivery in DCDA twin pregnancy.

BACKGROUND: Limited studies have used cervical shear wave elastography (SWE) as a tool to investigate the predictive effect of cervical changes on preterm delivery (PTD) in twin pregnancy. This study is aimed to predict the risk of PTD by cervical SWE in dichorionic diamniotic (DCDA) twin pregnancy. METHODS: A total of 138 women with dichorionic diamniotic (DCDA) twins were included in this prospective study. The mean SWE value of the cervix was obtained from the inner, middle and outer regions of the anterior and posterior cervical lips using a transvaginal ultrasound transducer and measured consecutively across three different gestations (20-23+ 6 weeks, 24-27+ 6 weeks, and 28-32 weeks). Follow-up was performed on all subjects, and we compared the mean SWE value between the PTD and term delivery (TD) groups. RESULTS: A total of 1656 cervical mean SWE data were collected for analysis. Among the 138 twin pregnant women, only 92 women completed the three elastography examinations; PTD occurred in 58.7% (54/92), and TD in 41.3% (38/92). The mean (SD) maternal age was 33.1 ± 4.1 years, and the mean (SD) body mass index was 21.1 ± 2.6 kg/m2. As gestational age increased, the mean SWE value of each part of the cervix decreased. The cervical mean SWE value was lower in the preterm group than in the term group in all three gestations, except for the anterior cervical lip at 28-32 weeks. Receiver operating characteristics (ROC) curves showed the sensitivity of mean SWE value of the anterior cervical lip was 83.3% (95% CI, 70.7-92.1) with a specificity of 57.9% (95% CI, 40.8-73.7) for predicting PTD at a cutoff value of 7.94 kPa. The positive likelihood ratio (LR+) was 1.67 (95% CI, 1.19-2.34), and the negative likelihood ratio (LR-) was 0.33 (95% CI, 0.17-0.64). CONCLUSIONS: There is a significant negative correlation between cervical stiffness and gestational age in DCDA twin pregnancy. SWE is a potential tool for assessing cervical stiffness and predicting PTD in DCDA twin pregnancy.

Prenatal diagnosis of Roberts syndrome in a Chinese family based on ultrasound findings and whole exome sequencing: a case report.

BACKGROUND: Roberts syndrome (RBS) is a rare autosomal recessive disorder caused by variations in the ESCO2 gene; however, prenatal diagnosis of RBS has never been reported in Chinese families. Additionally, fetal-specific phenotypic characteristics associated with ESCO2 variants have not been reported. CASE PRESENTATION: A fetus in a healthy, nonconsanguineous Chinese family with multiple serious congenital malformations was diagnosed prenatally. Two consecutive fetuses in this family presented with tetraphocomelia, growth restriction, cleft lip and palate bilaterally, and other abnormalities. The main phenotypic characteristics of this case were strongly suspected to be associated with RBS. Finally, whole exome sequence analysis revealed the insertion of a homozygous base pair in exon 6 of the ESCO2 gene (NM_001017420.3, c.1111insA, NP_001017420.1, p.Thr371fs). Both of the couples were heterozygous carriers for this variant. CONCLUSION: We are the first to report a prenatal case of RBS diagnosed in a Chinese family. Here, we have confirmed that the rare variant is a definite pathogenic variant, and we provide detailed phenotypic characteristics for the prenatal diagnosis of RBS due to this causative variant.

Generation of induced pluripotent stem cell line GZHMCi006-A from amniotic fluid-derived cells with deletion 14q syndrome.

The deletions of the long arm of chromosome 14 involving the 14q24-q32 region have been identified as deletion 14q (del 14q) syndrome, but were rarely reported. The patients with del 14q syndrome are observed a peculiar facial appearance and neurological defects, but the molecular mechanisms were not clear. Here we generated a human iPSC line from the patient's amniotic fluid cells with 24 Mb deletion in 14q24.3q32.31 which will serve as useful tools for studying the mechanism of del 14q syndrome and the genes involved, which will provide useful basic theory of prenatal diagnosis.

Monozygotic twins discordant for homologous Robertsonian translocation trisomy 21 of 46, XX, + 21, der (21;21) (q10; q10) in a twin-to-twin transfusion syndrome, case report.

BACKGROUND: Monozygotic twins are nearly identical in genotype and phenotype because monozygotic twins arise from one fertilized oocyte. In all cases of discordant karyotype in monozygotic twins, trisomy 21 accounts for about one in 385,000. Monozygotic twins discordant for Robertsonian translocation trisomy 21 of the der (21;21)(q10;q10), in which the additional chromosome originates from the father is rare. CASE PRESENTATION: A 28-year-old parous woman, G3P1A0, came to our institution for a dating scan at 8 weeks of gestation. The transvaginal ultrasound examination demonstrated a monochorionic diamniotic pregnancy. She and her husband were healthy, with no family history of trisomy 21 or other congenital diseases. The ultrasound examination of nuchal translucency thickness was discordant in twins at 13 weeks (twin A, NT 1.4 mm with CRL being 65 mm; twin B, NT 7.8 mm with CRL being 69 mm). At 17+ 4 weeks, twin A was normal, but ventricular septal defect and the hypoplastic left heart was detected in twin B. The deepest vertical pocket was 18 mm in twin A (oligohydramnios) and 102 mm in Twin B (polyhydramnios). The bladder in twin A was absent. Ultrasound findings indicated TTTS Stage II. Amniocentesis was performed for the two fetuses. The karyotyping results revealed 46, XX in twin A but 46,XX,+ 21,der (21;21)(q10;q10) in twin B. For twin B, the parents opted for selective fetal termination by radiofrequency ablation. The procedure was uneventful. At 40+ 5 weeks, twin A was born with a birth weight of 4120 g by vaginal delivery. CONCLUSIONS: The early detection of discordant karyotype and twin-to-twin transfusion syndrome is beneficial to the early intervention. In monozygotic twins with a discordant anomaly, the discordant karyotype should be considered.