Unbalanced X;Y translocations carrying SRY in prenatal settings: Clinical, molecular, and cytogenetic analysis of three cases.

BACKGROUND: Generally, the translocation of SRY onto one of the X chromosomes leads to 46, XX testicular disorders of sex development, a relatively rare condition characterized by the presence of testicular tissue with a 46, XX karyotype. Three prenatal cases of unbalanced X; Y translocation carrying SRY were identified in this study. METHODS: Structural variants were confirmed using single nucleotide polymorphism array and chromosomal karyotyping. X chromosome inactivation (XCI) was also analyzed. Detailed clinical features of the three cases were collected. RESULTS: We identified two fetuses with maternal inherited unbalanced X; Y translocations carrying SRY and skewed XCI presenting with normal female external genitalia, and one fetus with de novo 46, XX (SRY+) and random XCI manifested male phenotypic external genitalia. CONCLUSION: This study reports that cases with unbalanced X; Y translocations carrying SRY manifested a normal female external genitalia in a prenatal setting. We speculate that the skewed XCI mediates the silence of SRY. In addition, our study emphasizes that combining clinical findings with pedigree analysis is critical for estimating the prognosis of fetuses with sex chromosome abnormalities.

Prenatal prevalence and postnatal manifestations of 16p11.2 deletions: A new insights into neurodevelopmental disorders based on clinical investigations combined with multi-omics analysis.

BACKGROUND: The 16p11.2 deletion is one of the most common genetic aetiologies of neurodevelopmental disorders (NDDs). The prenatal phenotype of 16p11.2 deletion and the potential mechanism associated with postnatal clinical manifestations were largely unknow. We revealed the developmental trajectories of 16p11.2 deletion from the prenatal to postnatal periods and to identify key signaling pathways and candidate genes contributing to neurodevelopmental abnormalities. METHODS: In this 5-y retrospective cohort study, women with singleton pregnancies who underwent amniocentesis for chromosomal abnormalities were included. Test of copy-number variations (CNVs) involved single nucleotide polymorphism-array and CNV-seq was performed to detected 16p11.2 deletion. For infants born carrying the 16p11.2 deletion, neurological and intellectual evaluations using the Chinese version of the Gesell Development Scale. For patients observed to have vertebral malformations, Sanger sequencing for T-C-A haplotype of TBX6 was performed. For those infants with clinical manifestations, whole-exome sequencing was consecutively performed in trios to rule out single-gene diseases, and transcriptomics combined with untargeted metabolomics were performed. RESULTS: The prevalence of 16p11.2 deletion was 0.063% (55/86,035) in the prenatal period. Up to 80% (20/25) of the 16p11.2 deletions were proven de novo by parental confirmation. Approximately half of 16p11.2 deletions (28/55) were detected with prenatal abnormal ultrasound findings. Vertebral malformations were identified as the most distinctive structural malformations and were enriched in fetuses with 16p11.2 deletions compared with controls (90.9‰ [5/55] vs. 8.4‰ [72/85,980]; P < 0.001). All 5 fetuses with vertebral malformations were confirmed to have the TBX6 haplotype of T-C-A. Overall, 47.6% (10/21) infants birthed were diagnosed with NDDs of different degrees. Language impairment was the predominant manifestation (7/10; 70.0%), followed by motor delay (5/10; 50%). Multi-omics analysis indicated that MAPK3 was the central hub of the differentially expressed gene (DEG) network. We firstly reported that histidine-associated metabolism may be the core metabolic pathway related to the 16p11.2 deletion. CONCLUSION: We demonstrated the prenatal presentation, incomplete penetrance and variable expressivity of the 16p11.2 deletion. We identified vertebral malformations were the most distinctive prenatal phenotypes, and language impairment was the predominant postnatal manifestation. Most of the 16p11.2 deletion was de novo. Meanwhile, we suggested that MAPK3 and histidine-associated metabolism may contribute to neurodevelopmental abnormalities of 16p11.2 deletion.

[Discussion on the status quo and solutions to the prevention and control of birth defects among primary obstetricians and gynecologists in the era of molecular genetic testing].

Birth defects are an important factor for the quality of newborn population. With the development of molecular genetic technology, an increasing number of genetic disorders leading to birth defects can now be detected. The lack of the knowledge for the basics and clinical applications of molecular genetic techniques have emerged as a shortcoming for primary care physicians who have formed the first tier prevention for birth defects. Currently, government has paid more attention to the above problems and formulated more training programs for primary obstetricians and gynecologists, e.g., "Prenatal Screening and Prenatal Diagnosis Post Training Program", "National Birth Defects Training Program", "National Primary Obstetrician Training Program". To some extent, such programs have met the urgent need for birth defect prevention in primary hospitals. But at the same time, some problems have also emerged. For instance, the knowledge for birth defects among primary obstetricians and gynecologists is poor, and there is lack of young personnel. This article has aimed to discuss the strategies to systematically improve the ability for preventing birth defects among primary care physicians by analyzing the obstacles and challenges for primary obstetricians and gynecologists in the era of molecular genetic testing.

Nerve Defect Treatment with a Capping Hydroxyethyl Cellulose/Soy Protein Isolate Sponge Conduit for Painful Neuroma Prevention.

Painful neuroma, as one of the complications of nerve injury from disease or trauma, results in instinctive neuropathic pain that adversely affects a patient's quality of life. To intercept neuroma development, capping strategies have been performed as effective therapies. Nonetheless, the most appropriate biocompatible material to shield the nerves is an urgent clinical requirement. Herein, a compatible hydroxyethyl cellulose (HEC)/soy protein isolate (SPI) sponge capping conduit (HSSC) is used to prevent neuroma in vivo. Following capping on the sciatic nerve stump in vivo, the behavior of the rats and the structure of tissues are compared through histological assessment and autotomy scoring. The HSSCs gained a dismal autotomy score and enhanced the amelioration, where inflammatory invasions and overdeposition of collagen are defeated. The expression of myelin growth linked genes (Krox20, MPZ, and MAG) in the HSSC group at the eighth week was almost 2 times higher than that of the no capping group. The HSSC conduit served as a physical barrier to repress the infiltration of inflammation as well as provided an optimum microenvironment for facilitating nerve rejuvenation and intercepting neuroma development during nerve amelioration.

The risk factors of procedure-related complications after amniocentesis in twin pregnancies: a retrospective analysis.

BACKGROUND: There is an increasing demand for prenatal diagnostic testing in twin pregnancies, however, anecdotally there is a higher incidence of procedure-related complications after amniocentesis than that in singleton pregnancies. There is a paucity of data regarding risk factors of amniocentesis in twin pregnancies. METHODS: Women with twin pregnancies who underwent amniocentesis between January 2016 and December 2020 were enrolled in this retrospective study. Procedure-related complications including spontaneous miscarriage, intrauterine fetal death, spontaneous preterm delivery, preterm premature rupture of membranes, and placental abruption in one or both fetuses after amniocentesis were assessed. Meanwhile, potential risk factors related to amniocentesis including chorionicity, gestational age, conception, number of needle insertions, parity, history of miscarriage, indications, and pregnancy-related complications (pregnancy-induced hypertension and gestational diabetes) were also recorded. RESULTS: A total of 811 women with twin pregnancies underwent amniocentesis were included, with a procedure-related complications rate of 3.83%. Risk factors associated with increased risk of procedure-related complications after amniocentesis in twin pregnancies were chorionicity (adjusted odds ratio [aOR]: 4.06), gestational age at the procedure (aOR: 2.76), and numbers of needle insertions (aOR: 3.26). In the monochorionic twin pregnancy, hemorrhage during this pregnancy (aOR: 12.01), polyhydramnios (aOR: 5.03), and numbers of needle insertions (aOR: 3.15) were risk factors after amniocentesis. In the dichorionic twin pregnancy, gestational age at the procedure (OR:4.47) affected the risk of procedure-related complications after amniocentesis. In the subgroup of gestational age at the procedure ≤ 24+ 0 weeks, risk factors associated with increased risk of procedure-related complications after amniocentesis in twin pregnancies were chorionicity (aOR: 5.14), and numbers of needle insertions (aOR: 3.76). CONCLUSION: The procedure-related complications rate is 3.83% in our institution during the study period. The present study has emphasized the significance of certain risk factors for adverse outcome and will be useful in counseling patients with twin pregnancies.

A chromosomal microarray analysis-based laboratory algorithm for the detection of genetic etiology of early pregnancy loss.

Background: Chromosomal abnormalities are a major cause of early pregnancy loss. However, models synthesizing existing genetic technologies to improve pregnancy outcomes are lacking. We aim to provide an integrated laboratory algorithm for the genetic etiology of couples who experienced pregnancy loss. Methods: Over a 6-year period, 3,634 products of conception (POCs) following early pregnancy loss were collected. The clinical outcomes from a laboratory algorithm based on single nucleotide polymorphism (SNP) array, fluorescence in situ hybridization (FISH), and parental chromosomal karyotyping assays were comprehensively evaluated. Results: In total, 3,445 of 3,634 (94.8%) POCs had no maternal-cell contamination. Of those POCs, the detection rate of abnormal results was 65.2% (2,247/3,445), of which 91.2% (2,050/2,247) had numerical chromosomal abnormalities, 2.7% (60/2,247) had copy-number variations (CNVs) ≥10 Mb, 2.7% (61/2,247) had CNVs of terminal deletion and duplication, 2.8% (62/2,247) had CNVs <10 Mb, and 0.6% (14/2,247) had uniparental disomy. Furthermore, FISH confirmed 7 of the 60 POCs with mosaic aneuploids below 30% based on the SNP array results as tetraploid. Of the 52 POCs with CNVs of terminal deletion and duplication, 29 couples had balanced rearrangements based on chromosomal karyotyping. Conclusion: The integrated SNP array-based algorithm combined with optional FISH and parental chromosomal karyotyping is an effective laboratory testing strategy, providing a comprehensive and reliable genetic investigation for the etiology of miscarriage, regardless of the number of miscarriages and the method of conception.

Case report: Prenatal diagnosis of rare chromosome mosaicism: discordant results between chorionic villi and amniotic fluid samples.

Objective: We described a unique case of near-negative chromosome mosaicism in chorionic villi but complete monosomy X in amniotic fluid. Methods: Chorionic villus sampling and amniocentesis were performed separately in the first and second trimesters. Chromosomal microarray (CMA) and rapid aneuploidy detection (QF-PCR and FISH) were performed on placental villi and uncultured amniotic fluid. After pregnancy termination, the placenta, umbilical cord, and fetal muscle tissues were sampled for FISH detection. Results: The CMA revealed a lower signal from chromosome X in chorionic villi, with a copy number of 1.85, implying the presence of mosaic monosomy X. However, the QF-PCR and FISH results were nearly normal. In uncultured amniotic fluid, CMA and rapid aneuploidy detection indicated complete monosomy X. Across different sampling points on the aborted fetus, the FISH results varied from normal, to mosaic, and then complete monosomy X. Conclusion: This case presents a rare and complex situation where sampling from uncultured chorionic villi indicated low-level chromosome mosaicism, while sampling from amniotic fluid revealed complete monosomy X. Although some of these discordant outcomes may be due to methodological limitations, we conclude that prenatal consultation should be combined with fetal ultrasound phenotype and genetic testing for a comprehensive evaluation of fetal genetic abnormalities.

Comprehensive analysis of three female patients with different types of X/Y translocations and literature review.

BACKGROUND: X/Y translocations are highly heterogeneity in terms of clinical genetic effects, and most patients lack complete pedigree analysis for clinical and genetic characterization. RESULTS: This study comprehensively analyzed the clinical and genetic characteristics of three new patients with X/Y translocations. Furthermore, cases with X/Y translocations reported in the literature and studies exploring the clinical genetic effects in patients with X/Y translocations were reviewed. All three female patients were carriers of X/Y translocations with different phenotypes. The karyotype for patient 1 was 46,X,der(X)t(X;Y)(p22.33;q12)mat, patient 2 was 46,X,der(X)t(X;Y)(q21.2;q11.2)dn, and patient 3 was 46,X,der(X)t(X;Y)(q28;q11.223)t(Y;Y)(q12;q11.223)mat. C-banding analysis of all three patients revealed a large heterochromatin region in the terminal region of the X chromosome. All patients underwent chromosomal microarray analysis, which revealed the precise copy number loss or gain. Data on 128 patients with X/Y translocations were retrieved from 81 studies; the phenotype of these patients was related to the breakpoint of the chromosome, size of the deleted region, and their sex. We reclassified the X/Y translocations into new types based on the breakpoints of the X and Y chromosomes. CONCLUSION: X/Y translocations have substantial phenotypic diversity, and the genetic classification standards are not unified. With the development of molecular cytogenetics, it is necessary to combine multiple genetic methods to obtain an accurate and reasonable classification. Thus, clarifying their genetic causes and effects promptly will help in genetic counseling, prenatal diagnosis, preimplantation genetic testing, and improvement in clinical treatment strategies.

[Analysis of Pregnancy Outcomes After Fetal Reduction in Monochorionic, Dichorionic, and Trichorionic Triplet Pregnancies].

Objective: To compare the pregnancy outcomes of pregnancy outcomes after selective fetal reduction treatment in monochorionic, dichorionic, and trichorionic triplet pregnancies. Methods: We conducted a retrospective analysis of the clinical data of 118 pregnant women carrying triplets. All subjects underwent regular prenatal check-ups and were admitted for delivery at West China Second University Hospital, Sichuan University between January 1, 2012 and January 31, 2021. According to the chorionicity, the subjects were divided into a monochorionic group ( n=13), a dichorionic group ( n=44), and a trichorionic group ( n=61). Within each group, the subjects were further divided into two subgroups, a reduction group and an expectant treatment group, according to whether they underwent fetal reduction or not. The clinical data and pregnancy outcomes were compared between the subgroups within each group. Results: In the monichorionic group, the reduction subgroup had a lower preterm birth rate and higher neonatal birth body mass than those of the expectant management subgroup, but the differences were not statistically significant. In the dichorionic and trichorionic groups, the rates of preterm delivery, neonatal hospitalization, and serious complications of the reduction subgroups were lower than those of the expectant subgroups ( P<0.05), while the neonatal birth body mass was higher in the reduction subgroups than that in the expectant subgroups ( P<0.05). In the dichorionic group, the incidence of intrahepatic cholestasis during pregnancy was lower in the reduction subgroup than that in the expectant treatment subgroup. In all 3 groups, there was no statistically significant difference between the subgroups in the incidence of gestational diabetes, hypertensive disorders of pregnancy, premature rupture of membranes, and postpartum hemorrhage. The survival curve analysis showed that women receiving fetal reduction during the first trimester had a lower risk of pregnancy loss and more significant prolonged of gestational age than those undergoing the procedure during the second trimester. Conclusion: Fetal reduction of triplets can significantly prolong the gestational age and improve the perinatal prognosis. In addition, selective reduction in the first trimester may lead to greater benefits than selective reduction in the second trimester does.

Characteristic quantum phase in Heisenberg antiferromagnetic chain with exchange and single-ion anisotropies.

We investigate the ground-state phase diagram for a spin-one quantum Heisenberg antiferromagnetic chain with exchange and single-ion anisotropies in an external magnetic field by using the infinite time-evolving block decimation algorithm to compute the ground-state fidelity per lattice site. We detect all phase boundaries solely by computing the ground-state fidelity per lattice site, with the prescription that a phase transition point is attributed to a pinch point on the ground-state fidelity surface. Furthermore, the results indicate that a magnetization plateau corresponds to a fidelity plateau on the ground-state fidelity surface, thus offering an alternative route for investigating the magnetization processes of quantum many-body spin systems. We characterize all phases by using the local-order parameter, the spin correlation, the momentum distribution of the spin correlation structure factor, and mutual information as a function of the lattice distance. The commensurate and incommensurate phases are distinguished by the mutual information. In addition, the central charges at criticalities are identified by performing a finite-entanglement scaling analysis. The results show that all phase transitions between spin liquids and magnetization plateaus belong to the Pokrovsky-Talapov universality class.

Case report: Cystic hygroma accompanied with campomelic dysplasia in the first trimester caused by haploinsufficiency with SOX9 deletion.

Introduction: Campomelic dysplasia (CD) is a rare autosomal dominant skeletal malformation syndrome characterized by shortness and bowing of the lower extremities with or without XY sex reversal. Diagnosis using ultrasonography is most often made in the latter half of pregnancy. Intragenic heterozygous mutations in SOX9 are responsible for most cases of CD. CD caused by SOX9 deletion is a rare condition. Case presentation: We present a single case report of an individual with cystic hygroma accompanied by CD, which was detected by ultrasound in the first trimester. Chromosomal microarray analysis (CMA) was performed to determine copy number variants, whereas whole exome sequencing (WES) was performed to elucidate single-nucleotide variants. Chorionic villus sampling was performed to enable such analyses. Ultimately, CMA detected a 606 kb deletion in the 17q24.3 region with only one protein-coding gene (SOX9). However, no mutation in the SOX9 protein-coding sequence was detected by WES. Conclusion: When cystic hygroma is detected, prenatal diagnoses for skeletal dysplasia by ultrasound are likely to be confirmed in the first trimester. We propose a comprehensive prenatal diagnostic strategy that combines CMA and WES to diagnose fetuses with cystic hygroma accompanied by skeletal dysplasia.

Potentials and challenges of chromosomal microarray analysis in prenatal diagnosis.

Introduction: For decades, conventional karyotyping analysis has been the gold standard for detecting chromosomal abnormalities during prenatal diagnosis. With the development of molecular cytogenetic methods, this situation has dramatically changed. Chromosomal microarray analysis (CMA), a method of genome-wide detection with high resolution, has been recommended as a first-tier test for prenatal diagnosis, especially for fetuses with structural abnormalities. Methods: Based on the primary literature, this review provides an updated summary of the application of CMA for prenatal diagnosis. In addition, this review addresses the challenges that CMA faces with the emergence of genome sequencing techniques, such as copy number variation sequencing, genome-wide cell-free DNA testing, and whole exome sequencing. Conclusion: The CMA platform is still suggested as priority testing methodology in the prenatal setting currently. However, pregnant women may benefit from genome sequencing, which enables the simultaneous detection of copy number variations, regions of homozygosity and single-nucleotide variations, in near future.

The Potential Protective Role of Aspirin Against Migraine in Pregnant Women.

Females are highly predisposed to the occurrence of migraine, a recurrent neurovascular headache disorder. Although migraine improves or disappears during pregnancy, a significant association between migraine and hypertension (i.e., pre-eclampsia) or vascular complications (i.e., stroke) during gestation has been determined. Low-dose aspirin exerts an antithrombotic effect and can improve vascular resistance by regulating endothelial function, which are implicated in the pathogenesis of migraine, pre-eclampsia, and other vascular complications during pregnancy. Low-dose aspirin is widely used prophylactically in the general population who are at higher risk of developing stroke or in pregnant women at higher risk of pre-eclampsia. In this paper we discuss the recent trends in research on the relationship between migraine and pre-eclampsia, an issue of paramount importance in obstetric care, and the potential relationship between migraine and vascular complications in pregnant women. In addition, the potential validity of low-dose aspirin prophylaxis in pregnant women with migraine is explored.

Down-regulated long non-coding RNA-ATB in preeclampsia and its effect on suppressing migration, proliferation, and tube formation of trophoblast cells.

Preeclampsia is a pregnancy-specific syndrome and is one of the main causes of maternal, fetal, and neonatal morbidity and mortality. Inadequate trophoblast invasion and failure of uterine spiral artery remodeling exert a major role in the development of preeclampsia, especially the early-onset one. LncRNA-ATB is verified to be aberrantly expressed in many cancers and promote the invasion-metastasis and proliferation cascades. But little is known of lncRNA-ATB's role in preeclampsia. The aim of current study is to identify the changes of lncRNA-ATB in preeclampsia and its effects on trophoblast. The lncRNA-ATB levels were decreased in placental samples collected from preeclampsia women (n = 51) compared to those of healthy pregnant women (n = 40) by qRT-PCR analysis. Besides, it is demonstrated that lncRNA-ATB was intense stained in the trophoblast of the placenta by performing in-situ hybridization. By designing RNA interference species to suppress lncRNA-ATB and specific plasmids designed to overexpress lncRNA-ATB, we identify the role of lncRNA-ATB on the functions of trophoblast cell-line, HTR-8/SVneo. Inhibition of endogenous lncRNA-ATB decreased migration, proliferation, tube-formation of HTR-8/SVneo cells. In addition, overexpression of lncRNA-ATB promoted migration, proliferation, and tube-formation of HTR-8/SVneo cells. Therefore, lncRNA-ATB might be involved in the pathogenesis of preeclampsia by regulating the process of trophoblast invasion and endovascular formation.

Association between preeclampsia and the CXC chemokine family (Review).

Preeclampsia is a major cause of maternal and perinatal mortality and morbidity, characterized by gestational hypertension, proteinuria, systemic endothelial cell activation and an exaggerated inflammatory response. The precise cause of preeclampsia is not currently known; however, it is widely accepted that the pathogenesis of preeclampsia involves inadequate trophoblast invasion, leading to generalized endothelial dysfunction and an exaggerated inflammatory response. Chemokines are a superfamily of structurally similar proteins that mediate cell recruitment, angiogenesis, immunity and stem cell trafficking. CXC chemokines are a family of cytokines, unique in their ability to behave in a disparate manner in the regulation of angiogenesis. The CXC chemokine family further divides into two subfamilies; CXC ELR+, which promotes angiogenesis, and CXC ELR-, which inhibits angiogenesis. Furthermore, CXC chemokines are involved in the pathogenesis of various conditions, including malignant tumors, wound repair, chronic inflammation, atherosclerosis and potentially preeclampsia.

Role of osteoprotegerin gene variants in early-onset severe pre-eclampsia.

AIM: The aim of this study was to detect the role of osteoprotegerin (OPG) gene variants in early-onset severe pre-eclampsia. MATERIAL AND METHODS: The associations of 163A/G (rs3102735) and 950T/C (rs2073617) polymorphisms of OPG with pre-eclampsia (60 cases of early-onset severe pre-eclampsia and 91 cases of late-onset pre-eclampsia), as well as with the clinical manifestations of individuals, were evaluated. RESULTS: Data showed lower frequencies of TC and TC + CC genotypes and C allele of 950T/C in the early-onset group than those of the control and late-onset groups (P = 0.003; P = 0.002; P = 0.005; P = 0.031; P = 0.021; P = 0.022). However, no significant differences were found in genotype and allele frequencies between the late-onset and control groups. Moreover, no significant differences were observed in the genotype and allele frequencies of 163A/G polymorphism among the three groups. In the early-onset group, 950T/C TC + CC genotype carriers exhibited significantly lower systolic blood pressure ([147.25 ± 11.89] mmHg) and 24-h urine protein ([2.46 ± 0.92] g) than the TT carriers ([165.88 ± 20.39] mmHg, [3.64 ± 0.81] g) (P = 0.003; P = 0.001, respectively). Serum creatinine was significantly higher in women with the 163A/G AG + GG genotypes ([82.31 ± 11.66] µmol/L) than in those with the AA genotype ([71.90 ± 16.85] µmol/L) (P = 0.003). CONCLUSION: This study implicates that OPG gene variants may be associated with early-onset severe pre-eclampsia.

Prostasin gene polymorphism at rs12597511 is associated with severe preeclampsia in Chinese Han women.

BACKGROUND: Preeclampsia, characterized by hypertension and proteinuria, is a multifactorial disease associated with shallow invasion of trophoblast cells and inadequate spiral artery remodeling. Trophoblast and tumor cells have similar invasion mechanism. Prostasin is closely related to tumor development, invasion and metastasis and influences blood pressure through activating epithelial sodium channel. The effect of prostasin on the pathogenesis of preeclampsia remains unclear. This study investigated the association of prostasin gene at rs12597511 with severe preeclampsia. METHODS: A single nucleotide polymorphism, rs12597511, was tested with polymerase chain reaction and restrictionfragment length polymorphism analyses in 179 severe preeclampsia patients and 222 normal pregnant women. RESULTS: The frequencies of TC + CC genotypes were significantly higher in severe preeclampsia group compared with in control group (the adjusted odds ratio was 2.030, 95% confidence interval 1.195-3.449, P = 0.009). The C allele of rs12597511 was present significantly more often among women with severe preeclampsia (P = 0.001). Genotyping analysis showed that the C allele of rs12597511 could confer a risk for severe preeclampsia. CONCLUSION: The higher frequency of C allele of prostasin gene at rs12597511 is associated with severe preeclampsia.

Plasma concentrations of sAxl are associated with severe preeclampsia.

OBJECTIVE: Preeclampsia, a multisystem disorder unique to pregnancy, is a major cause of maternal and perinatal mortality and morbidity. Inadequate trophoblast invasion and vascular dysfunction are believed to be involved in preeclampsia. Axl, which interacts with its ligand Gas6, known to regulate cell migration, adhesion, and vascular angiogenesis or homeostasis and vascular network formation, may be implicated in preeclampsia, as preeclampsia is a specific vascular disease. sAxl, a soluble form of Axl, is bound to Gas6 in plasma, which inhibits the activation of the Axl-Gas6 pathway. The aim of this study was to determine the changes and significance of plasma concentrations of sAxl in severe preeclampsia, as well as its correlation with the clinical parameters of severe preeclampsia. DESIGN AND METHODS: Fifty-eight women with severe preeclampsia and 31 healthy pregnant women were included in the study, from April 2012 to October 2012. Plasma sAxl concentrations were detected with an immunosorbent assay (ELISA) kit. RESULTS: Plasma sAxl concentrations were significantly higher in the preeclampsia group (61.52±17.57ng/mL) than in the normal pregnancy group (45.29±15.44ng/mL) (P<0.05). Plasma sAxl concentrations in the severe preeclampsia patients correlated positively with systolic and diastolic blood pressures (r=0.628, P<0.05 vs. r=0.394, P<0.05, respectively) and proteinuria (r=0.583, P<0.05), but inversely with plasma albumin (r=-0.444, P<0.05), gestation of delivery (r=-0.554, P<0.05), and birth weight (r=-0.476, P<0.05). Multiple linear regression analysis indicated that systolic blood pressure and proteinuria were influence factors of plasma sAxl levels (ß1=0.520, P<0.05; ß2=0.461, P<0.05). CONCLUSIONS: Plasma sAxl concentrations were higher in the preeclampsia patients, and plasma sAxl levels were correlated with the clinical parameters of severe preeclampsia. Furthermore, systolic blood pressure and proteinuria might be influence factors of plasma sAxl level.