Zhiming He

Application of chromosomal microarray analysis in prenatal diagnosis of fetal growth restriction.

To investigate the clinical value of chromosomal microarray analysis (CMA) in the prenatal diagnosis of chromosomal abnormalities in fetal growth restriction (FGR) cases.

Placental expression of PHLDA2 in selective intrauterine growth restriction in monozygotic twins

Studies have showed that increase of placental expression of imprinted genes PHLDA2 may have a potential regulatory role in fetal IUGR (intrauterine growth restriction) in singleton. In this study, we investigate the expression level of PHLDA2 in placenta of monozygotic twins (MZT) with selective intrauterine growth restriction (sIUGR) and normal MZT. Both mRNA levels and protein levels of PHLDA2 were significantly increased in placenta sharings of small fetus in cases of sIUGR. Our results suggest upregulated PHLDA2 in placenta may be associated with the pathogenesis of sIUGR.

Preeclampsia in twin pregnancies: association with selective intrauterine growth restriction

Abstract Objective: To identify the association between preeclampsia (PE) and selective intrauterine growth restriction (sIUGR) in twin pregnancies. Methods: This was a retrospective cohort study of 1004 twin pregnancies from 2008 to 2014. We specifically compared the incidence, clinical characteristics and outcomes of PE between sIUGR and normal-growth twin pregnancies. Results: PE occurred more frequently in sIUGR pregnancies [29.0% (51/176)] than in normal-growth twin pregnancies [13.1% (99/756), p < 0.001, adjusted odds ratio 3.29]. Among sIUGR, the incidence of PE was significantly higher in dichorionic (DC) pregnancies (37.5%, 30/80) than in monochorionic (MC) pregnancies (21.9%, 21/96). The rates of onset at <32 weeks (p = 0.045) and of severe PE (p = 0.025) were higher in sIUGR pregnancies with PE. The systolic blood pressure was also higher in sIUGR pregnancies with PE (152.6 ± 11.8 mmHg) than in normal-growth pregnancies with PE (148.0 ± 8.2 mmHg) (p = 0.042). Additionally, more sIUGR pregnancies were delivered at 32–36 weeks (p = 0.001), and fewer were delivered at ≥36 weeks (p < 0.001). Moreover, the prevalence of severe neonatal asphyxia was higher in sIUGR pregnancies with PE than in normal-growth pregnancies with PE (8.8% versus 2.5%, p = 0.020). Conclusions: sIUGR is associated with increased odds of developing severe PE in twin pregnancies, leading to poorer perinatal outcomes.

Noninvasive fetal genotyping of paternally inherited alleles using targeted massively parallel sequencing in parentage testing cases

Researchers have sought to develop a noninvasive protocol for paternity analysis that uses fetal cell‐free DNA (cfDNA) in maternal plasma. Massively parallel sequencing (MPS) is expected to overcome this challenge because it enables the analysis of millions of DNA molecules at a single‐base resolution.

Unusual twinning: Additional findings during prenatal diagnosis of twin zygosity by single nucleotide polymorphism (SNP) array

To evaluate the incidence and characteristics of unusual twinning by using single nucleotide polymorphism (SNP) array to identify twin zygosity.

Placental expression of osteopontin(OPN) in monochorionic twins with discordant growth

Shallow invasion could result in pathological processes of placenta leading to fetal growth restriction (FGR) in singletons and twins. Osteopontin (OPN) plays an important role in trophoblast invasion. So our study aims to investigate the expression level of OPN in placenta of discordant monochorionic (MC) twins. OPN expression was compared in the placental samples of 10 discordant MC twins and 12 concordant MC twins. OPN levels were evaluated using quantitative Real-time PCR and western blot. Our results showed that OPN expression at mRNA and protein level was significantly decreased in placenta (p < 0.05) of small fetuses in discordant MC twins. The expression level of OPN transcript strongly correlated with the territory of placenta.

Prenatal diagnosis of posterior fossa anomalies: Additional value of chromosomal microarray analysis in fetuses with cerebellar hypoplasia

To elucidate the relationship between copy number variations (CNVs) detected by high‐resolution chromosomal microarray analysis (CMA) and the type of prenatal posterior fossa anomalies (PFAs), especially cerebellar hypoplasia (CH).

Placental NFE2L2 is discordantly activated in monochorionic twins with selective intrauterine growth restriction and possibly regulated by hypoxia

Abstract Introduction: Nuclear factor, erythroid 2 like 2 (NFE2L2) is an important transcription factor that protects cells from oxidative stress (OS). NFE2L2 deficiency in placentas is associated with pregnancy complications. We have demonstrated that elevated OS existed in placental shares of the smaller fetus in selective intrauterine growth restriction (sIUGR); however, the role of NFE2L2 in the development of sIUGR remains unknown. In this study, we examined the levels of NFE2L2 and heme oxygenase 1 (HMOX1), a major antioxidant regulated by NFE2L2, in sIUGR placentas. We also investigated the relationship between hypoxia and NFE2L2 activation, which may be involved in the pathogenesis of sIUGR. Methods: Real-time PCR, Western blot, and immunohistochemistry were used to detect the levels of NFE2L2 and HMOX1 in placentas from 30 monochorionic diamniotic (MCDA) twin pregnancies. The trophoblast cell line HTR-8/SVneo was cultured under severe (3%) or mild (10%) hypoxia. Results: NFE2L2 and HMOX1 were both up-regulated in placental shares of the smaller fetus in the sIUGR group. No significant inter-twin differences in NFE2L2 and HMOX1 were detected in the normal group. In vitro, NFE2L2 was suppressed under severe hypoxia (3% O2) but was clearly up-regulated under mild hypoxia (10% O2). Discussion: Compared with the suppression of NFE2L2 in placentas of fetal growth restriction (FGR) in singleton pregnancies, NFE2L2 was up-regulated in placental shares of the smaller fetus in sIUGR pregnancies. The asymmetrical activation of NFE2L2 in placental shares of sIUGR twins may be a compensation for hypoxia that protects the smaller fetus from OS damage.

Chromosomal aberrations and CNVs in twin fetuses with cardiovascular anomalies: Comparison between monochorionic diamniotic and dichorionic diamniotic twins

To investigate the types of cardiovascular anomalies and the results of invasive prenatal diagnosis in twin fetuses.

Prenatal diagnosis of Pallister-Killian syndrome in one twin

Pallister‐Killian syndrome (PKS) is often incidentally diagnosed prenatally due to ultrasound abnormalities or advanced maternal age. Severely shortened limbs could be the most outstanding abnormal observation in a fetus with PKS. PKS can be detected with the highest mosaic ratio by chromosomal microarray analysis (CMA) on uncultured amniocytes prenatally.