Hong-Ning Xie

Cardiovascular Z‐scores in fetuses with tetralogy of Fallot

To establish formulae for the calculation of fetal cardiovascular Z‐scores based on femur length (FL), and to compare cardiovascular parameters between fetuses with tetralogy of Fallot (TOF) and normal fetuses in order to assess their value for the prenatal diagnosis of TOF.

Prenatal evaluation of the conus medullaris position in normal fetuses and fetuses with spina bifida occulta using three‐dimensional ultrasonography

This study aimed to assess the fetal conus medullaris (CM) position with three‐dimensional (3D) ultrasonography and its use in detecting and diagnosing spina bifida occulta (SBO).

Prenatal diagnosis of submicroscopic chromosomal aberrations in fetuses with ventricular septal defects by chromosomal microarray-based analysis

To evaluate the usefulness of chromosomal microarray analysis in fetuses with ventricular septal defects (VSDs) with or without associated anomalies and normal karyotype.

Fetal Right Aortic Arch: Associated Anomalies, Genetic Anomalies with Chromosomal Microarray Analysis and Postnatal Outcome

The aim of the study was to assess the associated prenatal findings, genetic anomalies with chromosomal microarray analysis (CMA) and postnatal outcome of fetal right aortic arch (RAA).

Fetal persistent left superior vena cava in cases with and without chromosomal anomalies

The objectives of this study are to determine and compare the prevalence of persistent left superior vena cava (PLSVC) in chromosomally normal and abnormal fetuses and to evaluate the potential of PLSVC as a screening marker for chromosomal abnormalities.

Clinical Outcomes after Selective Fetal Reduction of Complicated Monochorionic Twins with Radiofrequency Ablation and Bipolar Cord Coagulation.

Aims: To review pregnancy outcomes, complication rates and neonatal neural development of selective termination procedures for complicated monochorionic (MC) twins. Methods: This was a retrospective review of the pregnancies that underwent selective reduction with radiofrequency ablation (RFA) and bipolar cord coagulation (BCC) in our institution. Results: Forty-eight cases underwent selective reduction with BCC and the remaining 45 with RFA. Overall survival was not statistically different between the RFA and BCC groups (71.1 and 62.5%, p = 0.379). With regard to the indications, the survival rates were not significantly different for twin to twin transfusion syndrome, twin reversed arterial perfusion, discordant anomalies and selective intrauterine growth restriction. Preterm premature rupture of membrane was not statistically different between the BCC and RFA groups (47.9 and 33.3%, p = 0.153). Five foetuses presented with abnormal middle cerebral artery-peak systolic velocity in the BCC group and 4 in the RFA group (p = 0.829). In the BCC group, neurological injury was detected in 2 neonates, presenting with cerebral dysplasia on MR scanning. In the RFA group, intracranial haemorrhage Grade III was detected in one neonate with cranial ultrasound (p = 0.607). Conclusions: Overall survival and complication rates following selective reduction in complicated MC twin pregnancies is similar irrespective of whether the reduction was performed using RFA or BCC. Key Message: It seems that selective reduction in MC pregnancies with RFA does not carry a significant decrease in the overall survival and complication rates than the cases with BCC. According to our data, neurodevelopmental impairment of the co-twins is relatively seldom after selective reduction.

Spectrums and Outcomes of Adnexal Torsion at Different Ages

To investigate the role of ultrasound in the preoperative diagnosis of adnexal torsion and describe its histological spectrum and outcomes at different ages.

Date-Independent Parameters: an Innovative Method to Assess Fetal Cerebellar Vermis

The objectives of this paper were to identify gestational age-independent parameters for cerebellar vermis (CV) evaluation and examine their use in CV integrity assessments. Using three-dimensional ultrasonography, we obtained the following measurements from 217 pregnant women carrying 18–37-week-old fetuses: the largest area of the CV, vermal craniocaudal distance (VCC), vermal anterior to posterior diameter, and vermal perimeter (VP). In addition, fetal growth parameters (biparietal diameter, head circumference femoral length [FL], humeral length, transverse cerebellar diameter, and abdominal circumference) were evaluated. The ratios of the CV dimensions to each other and to the fetal growth parameters were calculated. Ratios showing no significant correlation with gestational age and acceptable internal validity in subsequent bootstrap analyses were chosen. The normal ranges of the specific parameters were compared with cases identified with posterior fossa anomalies (PFA). The ratios VP/FL (mean 1.20, SD 0.09), VCC/FL (mean 0.36, SD 0.03), and VCC/VP (mean 0.3, SD 0.03) were chosen using our protocol. These parameters were not significantly different between normal fetuses and those with PFA and an intact vermis. However, VP/FL and VCC/FL values were abnormal in cases of hypoplastic vermis or vermian agenesis, while the VP/VCC value was abnormal only in cases of vermian agenesis. The VP/FL, VCC/FL, and VCC/VP ratios are gestational age-independent parameters in evaluation of CV integrity.

Four-Dimensional Sonography With Spatiotemporal Image Correlation and Tomographic Ultrasound Imaging in the Prenatal Diagnosis of Anomalous Pulmonary Venous Connections

To determine whether the use of 4‐dimensional (4D) sonography with spatiotemporal image correlation (STIC) and tomographic ultrasound imaging (TUI) can provide additional information with respect to 2‐dimensional (2D) echocardiography in the prenatal diagnosis of anomalous pulmonary venous connections.

Harlequin ichthyosis: a novel compound mutation of ABCA12 with prenatal diagnosis

Harlequin ichthyosis (HI) is the most severe form of recessive congenital ichthyosis, and is frequently lethal. We describe a family with prenatal diagnosis of HI in two siblings. We applied genomic capture and massively parallel sequencing to detect all mutations in 20 genes, including ABCA12, with inherited mutations that predispose to congenital ichthyosis. Sequence analysis of the ABCA12 gene identified two mutations, c.5232 G>A (p.Trp1744*) in exon 34 and c.6443 C>A (p.Pro2148Gln) in exon 44, each in a heterozygous state. Sanger sequencing confirmed that each parent was a heterozygous carrier for one of the variants. The spectrum of mutations identified in this study and previous studies reveals a novel compound mutation of ABCA12.