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Huang H.-L.,Central South University | Huang H.-L.,Tulane University | Lv C.,Central South University | Zhao Y.-C.,Tulane University | And 11 more authors.
New England Journal of Medicine | Year: 2014

The human zona pellucida is composed of four glycoproteins (ZP1, ZP2, ZP3, and ZP4) and has an important role in reproduction. Here we describe a form of infertility with an autosomal recessive mode of inheritance, characterized by abnormal eggs that lack a zona pellucida. We identified a homozygous frameshift mutation in ZP1 in six family members. In vitro studies showed that defective ZP1 proteins and normal ZP3 proteins colocalized throughout the cells and were not expressed at the cell surface, suggesting that the aberrant ZP1 results in the sequestration of ZP3 in the cytoplasm, thereby preventing the formation of the zona pellucida around the oocyte. Copyright © 2014 Massachusetts Medical Society.


Dai G.,Central South University | Dai G.,Hunan Normal University | Lu G.,Central South University | Lu G.,Reproductive and Genetic Hospital of CITIC XIANGYA
Reproduction, Fertility and Development | Year: 2012

Polycystic ovary syndrome (PCOS) is one of the most common causes of anovulatory infertility, affecting 510% of females during their reproductive life. Currently the pathology of PCOS is largely unknown. To identify the differential protein expression in follicular fluids from PCOS and normal subjects during controlled ovarian hyperstimulation, we performed an initial proteomic study including two-dimensional gel electrophoresis (2DE) analysis and mass spectroscopy, and confirmed results by western blot. Thirty-two protein spots were shown to be significantly differentially expressed between PCOS and normal follicular fluids, of which 20 unique proteins were identified to be associated with cellular metabolism and physiological processes; 13 of these proteins were upregulated while seven were downregulated in PCOS follicular fluids. Western blotting analyses confirmed the differential expressions for three randomly selected proteins, i.e. upregulated 1-antitrypsin, apolipoprotein A-I and transferrin in follicular fluid from PCOS patients than normal controls. Furthermore, semiquantitative reverse transcription-polymerase chain reaction (RTPCR) analyses revealed that mRNA levels of serine palmitoyltransferase 2, serine/threonine-protein kinase male germ cell-associated kinase (MAK) and DNA damage-regulated autophagy modulator protein 2 decreased significantly in granulosa cells of PCOS patients compared with normal samples. These results increase our understanding of PCOS and the identified genes may serve as candidate biomarkers to develop diagnostic and therapeutic tools. © CSIRO 2012.


PubMed | Sun Yat Sen University, Zhengzhou University, Jiangsu Province Hospital, Zhejiang University and 4 more.
Type: Journal Article | Journal: Reproductive biomedicine online | Year: 2016

This study explored the correlation between serum anti-Mllerian hormone (AMH) concentration and the number of retrieved oocytes after ovarian stimulation in Chinese infertile women undergoing assisted reproductive technology treatment and AMH cut-off values predicting low and high ovarian response. This was a prospective, multi-centre, observational study. A total of 615 subjects were included in nine assisted reproductive centres in China for outcome analysis. Subjects received assisted reproductive technology treatment and used recombinant human FSH (r-HFSH) or r-HFSH plus recombinant LH (rLH) for ovarian stimulation according to conventional treatment regimens. The main outcome variables were correlations between AMH and the number of retrieved oocytes and the cut-off values of AMH predicting low and high ovarian response. Serum AMH concentration was positively correlated with the number of oocytes retrieved in Chinese infertile women treated with IVF/intracytoplasmic sperm injection (ICSI) (Pearson correlation coefficient = 0.4754, P < 0.0001). The optimal AMH cut-off value was 2.6ng/ml (sensitivity: 81.28%, specificity: 59.51%) in predicting high and normal response, and 1.1ng/ml (sensitivity: 52.27%, specificity: 87.23%) in predicting low and normal response. In conclusion, serum AMH concentration can be used as a biomarker to predict ovarian response in Chinese infertile women treated with assisted reproductive technology.


PubMed | Clinical laboratory of BGI Health, Key Laboratory of Reproductive and Stem Cell Engineering, BGI Shenzhen, Central South University and 2 more.
Type: Journal Article | Journal: Prenatal diagnosis | Year: 2016

The objective of the study is to report the performance of noninvasive prenatal testing (NIPT) in twin pregnancies after the treatment of assisted reproductive technology (ART).In two years period, 565 pregnant women with ART twin pregnancies were prospectively tested by NIPT for screening for trisomy 21 (T21), 18 (T18), and 13 (T13) by sequencing cell-free DNA in maternal plasma. Positive NIPT results were confirmed by karyotyping, while negative results were interviewed after delivery. Pregnant decision based on NIPT and confirmation results was discussed during post-test counseling.In total of 565 cases, NIPT had a failure rate of 0.9% (5/565). Four cases of T21 were identified by NIPT and confirmed by karyotyping, resulting in 100% (95%CI 39.8%-100%) positive predictive value. Among 556 cases with NIPT negative results, 506 cases (91.0%) were confirmed by follow-up of postnatal phenotypes, while 33 cases (5.9%) had adverse pregnant outcomes with unconfirmed reasons because of the lack of cytogenetic samples. The remaining 17 cases (3.1%) refused follow-up. No false negative result was reported.With apparently high positive predictive value and low false positive rate, NIPT has the potential to be used as a good alternative approach of conventional prenatal screening at the first trimester in ART twin pregnancy. 2016 John Wiley & Sons, Ltd.


Zhu F.,Central South University | Gong F.,Central South University | Gong F.,Reproductive and Genetic Hospital of Citic Xiangya | Lin G.,Central South University | And 3 more authors.
Molecular Human Reproduction | Year: 2013

Globozoospermia, characterized by round-headed spermatozoa without acrosomes, is a rare and severe teratozoospermia causing primary male infertility. Homozygous DPY19L2 deletions have been identified as the main cause of globozoospermia, blocking sperm head elongation and acrosome formation. Several previous studies showed a very different prevalence of DPY19L2 gene deletions among globozoospermic patients in cohorts with different sample sizes and in different ethnic background. And all the patients previously analyzed were mainly of European, North African and Middle Eastern origins. So far, only 11 different point mutations of the DPY19L2 gene have been reported. To investigate the prevalence of DPY19L2 gene mutations in Chinese patients with globozoospermia and whether we can identify new sequence variants in this study, we recruited a total of 16 globozoospermic patients. Excluding one of two brothers, molecular analysis for deletions and mutations in the DPY19L2 gene was performed on 15 genetically independent individuals. Four of the 15 genetically independent patients with globozoospermia were homozygous for the DPY19L2 deletion, 5 were homozygous for a point mutation including a nucleotide deletion c.1532delA (two patients), a multi-mutation consisting of a nucleotide deletion c.1679delT and a two-nucleotide deletion c.1681_1682delAC (c.[1679delT; 1681_1682delAC]) (one patient), a recurrent missense mutation R290H (one patient) and a missense mutation L330P (one patient). One additional patient had a heterozygous deletion in one allele but with no mutation identified in another allele. Overall, 60% of the patients (9/15) have a sequence variant of DPY19L2 in both alleles. This study confirms that the DPY19L2 mutations are the major cause of globozoospermia. Three novel point mutations and a recurrent missense mutation were found in this study, further broadening the spectrum of DPY19L2 mutations ©The Author 2013.


PubMed | Central South University and Reproductive and Genetic Hospital of CITIC Xiangya
Type: Journal Article | Journal: Fertility and sterility | Year: 2016

To investigate a forecasting method developed to predict first trimester pregnancy outcomes using the first routine ultrasound scan for early pregnancy on days 27-29 after ET and to determine whether to perform a repeated scan several days later based on this forecasting method.Prospective analysis.Infertile patients at an assisted reproductive technology center.A total of 9,963 patients with an early singleton pregnancy after invitro fertilization (IVF)-ET.None.Ongoing pregnancy >12weeks of gestation.The classification score of ongoing pregnancy was equal to (1.57 Maternal age) + (1.01 Mean sac diameter) + (-0.19 Crown-rump length) + 25.15 (if cardiac activity is present) + 1.30 (if intrauterine hematomas are present) - 47.35. The classification score of early pregnancy loss was equal to (1.66 Maternal age) + (0.84 Mean sac diameter) + (-0.38 Crown-rump length) + 8.69 (if cardiac activity is present) + 1.60 (if intrauterine hematomas are present) - 34.77. In verification samples, 94.44% of cases were correctly classified using these forecasting models.The discriminant forecasting models are accurate in predicting first trimester pregnancy outcomes based on the first scan for early pregnancy after ET. When the predictive result is ongoing pregnancy, a second scan can be postponed until 11-14weeks if no symptoms of abdominal pain or vaginal bleeding are present. When the predictive results suggest early pregnancy loss, repeated scans are imperative to avoid a misdiagnosis before evacuating the uterus.


PubMed | Central South University and Reproductive and Genetic Hospital of CITIC Xiangya
Type: | Journal: Journal of assisted reproduction and genetics | Year: 2016

The purpose of the study is to evaluate the correlation between ultrasound findings and abnormal karyotypes in early pregnancy losses (EPLs) after in vitro fertilization-embryo transfer (IVF-ET).This retrospective analysis assessed 2172 cases of EPL after IVF-ET occurring between January 2008 and December 2013. The cases were examined via transvaginal ultrasonography (TVS). Embryonic tissue karyotyping following miscarriage was performed using a comparative genomic hybridization (CGH) analysis with fluorescence in situ hybridization (FISH). The correlations between the ultrasound findings and the karyotypes were evaluated.Six categories of ultrasound findings were observed: normal ultrasound, empty sac, yolk sac only, small gestational sac, small embryonic pole, and early symmetrical arrested growth. The overall rate of abnormal karyotypes was 44.9% (976/2172), and the rate of abnormal karyotypes associated with a normal ultrasound, empty sac, yolk sac only, small gestational sac, small embryonic pole, and early symmetrical arrested growth was 49.5% (218/440), 28.1% (138/491), 43.4% (197/454), 50.0% (43/86), 49.8% (155/311), and 57.7% (225/390), respectively. Compared with the other groups, the prevalence of chromosomal abnormalities was significantly higher in the early symmetrical arrested growth group but was markedly lower in the empty sac group in all cases and when cases of 46,XX were excluded (p<0.05). Trisomy 16 was the most common chromosomal abnormality in the yolk sac only, small embryonic pole and early symmetrical arrested growth groups. In the empty sac, small gestational sac and normal ultrasound groups, monosomy X was the most frequent abnormality.Chromosomal anomalies may be associated with specific types of ultrasound findings in EPLs after IVF-ET.


PubMed | Central South University and Reproductive and Genetic Hospital of CITIC Xiangya
Type: | Journal: Fertility and sterility | Year: 2016

To provide information of semen quality among young Chinese men in the past 15years.Retrospective cross-sectional study.Sperm bank.A total of 30,636 young adult men who applied to be sperm donors at the Hunan Province Human Sperm Bank of China in 2001-2015 were included in the study.Physical examination and analysis of blood and semen samples.Semen parameters, such as semen volume, sperm concentration, total sperm count, progressively motile sperm count, sperm progressive motility, sperm morphology, and round cells.Many of the semen parameters showed a decreasing trend over the 15-year observation period. The sperm concentration and percentage of sperm with normal morphology decreased from 68 10The semen quality among young Chinese men has declined over a period of 15years, especially in terms of sperm concentration, total sperm count, sperm progressive motility, and normal morphology.


PubMed | Central South University and Reproductive and Genetic Hospital of Citic Xiangya
Type: Journal Article | Journal: Experimental and therapeutic medicine | Year: 2015

There are currently various protocols for in vitro fertilization (IVF). For patients with polycystic ovarian syndrome (PCOS), an optimized protocol for the downregulation of pituitary follicle stimulating hormone and luteinizing hormone via gonadotropin-releasing hormone agonist (GnRHa) remains a challenge. In the present study, the primary endpoint of an ultra-long and a conventional long GnRHa protocol for intracytoplasmic sperm injection/IVF treatments of patients with PCOS was retrospectively compared. In the modified ultra-long protocol group, endometrial thickness, morphology, and blood flow were significantly improved, as compared with in the conventional long protocol group. Furthermore, the serum progestogen (P) concentrations and P/estrogen (E2) [(Px1,000/E2)] ratio on the day of human chorionic gonadotrophin administration were significantly decreased in the modified ultra-long downregulation group, whereas the pregnancy and implantation rates were significantly higher. There were no significant differences in the average number of obtained oocytes, good quality embryo rates, cancel rates, fertilization rates, abortion rates, serious ovarian hyperstimulation syndrome incidences, ectopic pregnancy rates or gonadotropin (Gn) dosages between the two groups. These results suggest that the modified ultra-long protocol plus human menopausal Gn medication may be superior to the conventional long protocol, and may lead to improved implantation and pregnancy outcomes for infertile patients with PCOS.


PubMed | Central South University and Reproductive and Genetic Hospital of CITIC Xiangya
Type: | Journal: Reproductive biology and endocrinology : RB&E | Year: 2016

According to previous studies, even after embryonic cardiac activity is detected, the pregnancy loss rate remains 3-4 %. The objectives of this study were to investigate the differences in ultrasound parameters between a miscarriage group and an ongoing pregnancy group during the 1(st) trimester and to build a logistic model to predict early pregnancy loss (EPL) after the appearance of embryonic cardiac activity in patients who have undergone in vitro fertilization embryo transfer (IVF-ET) treatment.A total of 2601 patients with early singleton pregnancies with embryonic cardiac activity were retrospectively analyzed after IVF from January 2010 to June 2011. Transvaginal sonography (TVS) was performed at 6 to 10weeks of gestational age (GA). The mean gestational sac diameter (MSD), crown-rump length (CRL), fetal heart rate (FHR), and yolk sac diameter (YSD) were measured by TVS.A total of 2400 patients had an ongoing pregnancy and an additional 201 (7.7%) patients miscarried during the first trimester after fetal cardiac activity had been established. The maternal age (MA) and infertility duration were much greater, and the MSD, CRL, and FHR were much lower in the miscarriage group than in the ongoing pregnancy group after IVF (P<0.05). The prediction model utilized the following equation: the possibility of EPL=exp(z)/(1+exp(z)), where z=-21.456+(0.114MA)+(4.305 GA) - (0.043MSD) - (0.359CRL) - (0.091FHR)+2.243 (fluid collection present around the gestational sac (GS))+2.519 (when YSD<3) or - 0.347 (when YSD>5.5).The MA, MSD, CRL, YSD, FHR, infertility duration, and fluid collection around the GS were each correlated with EPL after IVF in infertile patients. A logistic model is a useful tool for predicting EPL after the appearance of embryonic cardiac activity (area under the curve [AUC]=0.909).

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