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15 November 2013, Volume 32 Issue 6
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Application of Genomic Technologies in the Prevention of Birth Defects CAO Jian-jun;FANG Kai;YANG Huan-ming 2013, 32 (6):  415-418.  Abstract ( 1711 )   PDF (454KB) ( 7421 )   China is a country suffering from high rate, 5.6%, of birth defects. Birth defects as one of the most commom causes of infant death, has risen to the second cause of infant death in 2011 from the fourth in 2000. In 2011, 19.1% infant deaths were from birth defects. Genetic factor is one of the most important factors of birth defects. With the rapid development of genomics research and genetic testing platform, the genetic testing has been more widely used in the prevention of birth defects. In this paper, we discuss the application of genomic technologies, as well as its importance, in the prevention of birth defects as for the three levels′ system of birth defects prevention. Related Articles | Metrics

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Risk Assessment of Fertility in Cancer Patients LU Guang-xiu;XI Zhou-huan;LIU Rui;LIU Jia;ZHOU Ling-li 2013, 32 (6):  419-423.  Abstract ( 1757 )   PDF (628KB) ( 7336 )   Nowadays，there is a trend that young persons delay marriage and childbearing. Meanwhile, cancer patients are getting younger. With the medical technologies advanced，the survival rate in cancer patients, as well as survival time, has been greatly improved. More and more patients and medical workers concern about how to protect fertility in the course of cancer treatment. In this paper，we give a brief description about the risk assessment of fertility in cancer patients, including the risk factors of infertility，the impacts of pregnancy on cancer patients, and ethics consideration. Related Articles | Metrics

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Application of New Genetic Techniques in the Study of Reproductive Security LIU Yun 2013, 32 (6):  424-426.  Abstract ( 1495 )   PDF (587KB) ( 7318 )   As an important way to reduce birth defects and to ensure reproductive safety, prenatal diagnosis has become an important part of obstetric care. Recent advancement in genetic techniques has improved the prenatal diagnosis, especially non-invasive prenatal diagnosis（NIPD）. In this commentary, three most representative genetic techniques and their application in prenatal diagnosis were introduced，including the array CGH using in detecting chromosomal structural variation, the deep sequencing and the digital relative mutation dosage using in NIPD. Those techniques innovated rapidly, as well as their clinical application, manifested their importance in prenatal diagnosis and clinical study. Related Articles | Metrics

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Application of the High-throughput Technologies in Preimplantation Genetic Diagnosis XU Chen-ming 2013, 32 (6):  427-432.  Abstract ( 1566 )   PDF (701KB) ( 7407 )   Gene chips and deep sequencing，as two most important high-throughput genomics technologies，have been widely used in many areas of biomedical research，including functional genomics，systems biology，pharmacogenomics and diagnostics. With the advent of modified whole genome amplification technologies，it has been promoted to apply the high-throughput technologies in preimplantation genetic diagnosis（PGD）. Based on the microarray technology, two technologies, the whole chromosomes set screening and the PGD with chromosomal structural analysis, have been introduced into clinical practice. The clinical pregnancy and embryo implantation rate after preimplantation genetic screening（PGS） or PGD have been significantly improved. Furthermore，two new technologies based on the single cell high-throughput sequencing, the chromosomal aneuploidy detecting and the single gene disease PGD，have been reported. It is hopeful that these new technologies be applied to the clinic in the near future. Related Articles | Metrics

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Prenatal Diagnosis of Single-Gene Defects YAN Kai;JIN Fan 2013, 32 (6):  433-437.  Abstract ( 1639 )   PDF (781KB) ( 7435 )   Single-gene defects, which has the unfavorable prognosis, is the main cause of the newborn's defect. Couples can prevent birth of child carrying the same genetic disorder with the proband. Currently, the prenatal diagnosis contains preimplantation genetic diagnosis and trimester prenatal diagnosis. Traditional invasive prenatal diagnosis acquire specimens from fetal relying on surgery. It is accurate, but with a certain risk of miscarriage. The new method of prenatal diagnosis (such as preimplantation genetic diagnosis and non-invasive prenatal diagnosis) and the traditional way are complementary to one another. In this review, we discuss the progress of prenatal diagnosis of Single-gene defects and the significance of genetic counseling in order to provide some ideas in clinical practice. Related Articles | Metrics

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The Favorable Modulation of Cyclosporin A on the Biological Behaviors of Trophoblast Cells LI Da-jin;TANG Chuan-ling;DU Mei-rong 2013, 32 (6):  438-441.  Abstract ( 1591 )   PDF (748KB) ( 7342 )   Cyclosporin A （CsA），one of the most powerful immunosuppressant，has been widely used to prevent organ rejection and treat certain autoimmune diseases. CsA at low concentrations can increase the proliferation and reduce the apoptosis of trophoblast cells，as well as promote the trophoblastic migration and invasion in vitro. The study in vivo has showed that administration with low dose CsA at the early stage of pregnancy can reduce fetal resorption rate and improve the pregnancy outcome in murine abortion-prone CBA/J×DBA/2 matings. These results above suggest that CsA appears to have favorable effect on the biological behaviors of trophoblast cell，and might be used as a unique therapeutics for miscarriage，preeclampsia，and other pregnancy-related diseases caused by trophoblast cell dysfunction. Related Articles | Metrics

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Assisted Reproductive Technology and Birth Defects DING Ting;QIAO Jie 2013, 32 (6):  442-445.  Abstract ( 1698 )   PDF (716KB) ( 7351 )   Whether assisted reproductive technology （ART） increase or cause birth defects has not been determined. However，the causality of the association of ART and birth defects is probably multifactorial，which may be different with natural conception. The major concern is still whether the ART procedures such as ovarian stimulation，embryo culture media and culture time have a possible negative impact on the ART offspring. Concerns of imprinting disorders related to the ART procedures have also been raised. Moreover，diseases which cause infertility have been shown to affect the risk of birth defects. It is important to emphasize that the vast majority of ART infants are healthy. Future research should be devoted to finding the mechanisms of the association between ART and birth defects. ART treatments could be improved in ways that may lead to decreased birth risks and improved population quality. Related Articles | Metrics

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Effects of Pregnancy Complications, Diabetes and Hypertension, on Offsprings WANG Chen;YANG Hui-xia 2013, 32 (6):  446-449.  Abstract ( 1457 )   PDF (967KB) ( 7295 )   Pregnancy complications are very common in obstetrics, especially pregnancy with diabetes and hypertension, which seriously threaten the life safety and health of maternal, fetal and newborns. In recent years, several studies showed that pregnancy with diabetes and hypertension could also have long-term effects on offspring, such as adulthood obesity, type 2 diabetes and hypertension. Those effects were defined as the fetal origin of adult diseases. However, study on the long-term effects of pregnancy complications on offspring health is limited, especially in our country. We here reviewed the research progress on the effects of pregnancy complications on offsprings. Related Articles | Metrics

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Reproductive Toxicity of ■pyrene LIAN Li-fen;CHEN Ya-qiong;HOU Hai-yan 2013, 32 (6):  450-453.  Abstract ( 1695 )   PDF (810KB) ( 7330 )   Polycyclic aromatic hydrocarbons（PAHs）, a series of common air pollutants mainly from tobacco smoke，coal burning，vehicle exhaust and indoor cooking fumes， are easily accumulated in water，soil and crop. Benzo（a）pyrene（BaP） is the representative environmental organic pollutants of PAHs. A large number of epidemiological investigations and animal experiments showed that BaP was related to the adverse pregnancy outcomes，such as reduced fertility，infertility，miscarriage，premature birth，fetal growth restriction and fetal birth defects. The mechanisms of BaP effects could include the cytochrome P450 enzyme metabolism，cell cycle progression，DNA damage, and anti-estrogen effect. Related Articles | Metrics

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Placental Factors Related to Preeclampsia LIU Ming;JI Lei;WANG Yan-ling 2013, 32 (6):  454-458.  Abstract ( 1692 )   PDF (906KB) ( 7357 )   Preeclampsia（PE） is one of the main causes for the death of pregnant women. The developmental disorders of placental trophoblastic cells are related to the pathogenesis of PE. The malfunction of placenta may result in a high oxidative stress at the feto-maternal interface，which stimulates the excessive production of various factors from placenta. Those soluble placental factors are released into maternal circulation，eventually leading to the maternal symptoms of PE. Those hormones and molecules secreted by placenta, such as VEGF and anti-VEGF, methoxyestradiol, atrial natriuretic peptide, activin A and inhibin A, could partly reflect the developmental disorders of placenta. miRNAs and genetics were also found to be related to the pathogenesis of PE. Related Articles | Metrics

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Abnormal Karyotypes in 15 413 Cases with Prenatal Diagnosis in Guangxi Province, China: a Retrospective Study HUANG Hong-qian;LI Meng;FEI Dong-mei;LIU Tian-sheng;ZHANG Hai-yan;CHEN Qiu-li;OUYANG Lu-ping;LIU Sun-rong 2013, 32 (6):  459-461.  Abstract ( 1618 )   PDF (869KB) ( 7275 )   Objective: To analyze retrospectively the abnormal karyotypes, and the indications of prenatal diagnosis, and to follow-up survey those fetuses with abnormal karyotypes, so as to provide references for genetic counseling. Methods: Chromosomal karyotype analysis was performed in 15 413 cases with the indications of prenatal diagnosis, using fetal samples by amniocentesis or umbilical cord puncture with the informed consent. Total 220 pairs with abnormal karyotype fetuses were surveyed follow-up by phone, and their child were checked chromosomal karyotypes using peripheral blood samples. Results: Total success rate of cell culture was 99.6% （15 349/15 413）, including 99.76%（11 299/11 326） in amniotic fluid samples and 99.1%（4 050/4 087） in umbilical cord blood samples. The rate of chromosomal abnormalities was 11.20% (1 719/15 349), including 8.70% （1 335/15 349） normal polymorphism, 1.72% （264/15 349） abnormal number of chromosomes and 0.79% （121/15 349） structural abnormalities of chromosomes. Classified according to the indications of prenatal diagnosis, the rates of chromosomal abnormalities were as follows, 10.67% （879/8 236） Down′s syndrome, 9.76% （128/1 312） elderly pregnant women, 12.27%（138/1 125） history of adverse pregnancy, 11.40%（124/1 087） abnormality found by B-ultrasound, 23.91%（132/552） abortion due to fetal malformation. In those chromosomal abnormalities, 108 abnormal karyotypes were from mothers, 69 from fathers, 43 from spontaneous abnormalities. Conclusions: The prenatal diagnosis and chromosomal analysis in those high-risk pregnant women are helpful to reduce birth defects. Related Articles | Metrics

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Application of Obstetric Forceps in the Assisted Deliver of Fetal Head during the Repeat Cesarean Section ZHOU Xiao-zhen;JIN Yun-lan;LOU Tian-ping 2013, 32 (6):  462-463.  Abstract ( 1591 )   PDF (858KB) ( 7259 )   Objective：To evaluate the clinical value of the obstetric forceps in the assisted deliver of fetal head during repeat cesarean section, by our clinical practice. Methods：244 puerpera cases who have difficulties to deliver fetal head during the repeat cesarean section were retrospectively analyzed, in our hospital from January 2006 to December 2012. Those 122 cases who treated with the obstetric forceps to assist during delivering fetal head were appointed as the observation group, while other 122 cases who treated without the obstetric forceps were appointed as the control group. The U-DI，case of neonatal asphyxia，neonatal scalp trauma and uterine incision tear，and the volume of postpartum hemorrhage were analyzed. Results：U-DI in the observation group was significantly shorter than that in the control group（P＜0.05）. The case of neonatal asphyxia，neonatal scalp trauma and the mean volume of postpartum hemorrhage in the observation group were significantly less than those in the control group（P＜0.05）. The case of uterine incision tear in the observation group was less than that in the control group（P＜0.05）. Conclusions：The application of obstetric forceps in the assisted deliver of fetal head during the repeat cesarean section can effectively shorten the U-DI，reduce the incidence of neonatal asphyxia, and reduce the damage to maternal and child. It is a safety，effective and practicable method. Related Articles | Metrics

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Effects of Oocyte Mitochondria on the Embryo Development in Assisted Reproductive Techniques TANG Jiang-jing;SHAO Jing-yu;DUAN Tao;HAN Yi-bing 2013, 32 (6):  464-467.  Abstract ( 1463 )   PDF (845KB) ( 7319 )   It is important issue for assisted reproductive techniques（ART） to improve the pregnancy rate and security. As the most abundant organelles in oocytes，mitochondria not only take part in the energy supply for oocyte maturation, fertilization，transcription and translation during embryonic development，but also play roles in some key procedures such as the oocyte activation，calcium oscillation，and apoptosis. More importantly，all mitochondria in embryo were originated from oocyte，not the sperm. It has been demonstrated that mitochondria dysfunction is closely related to oocyte aging，low fertilization rate，poor embryo quality，and developmental arrest of embryo，etc. In this paper，the roles of mitochondrial function in oocyte maturation，fertilization and embryo development, as well as how to protect oocyte mitochondria and how to improve the function of oocyte mitochondria during ART, were reviewed. Related Articles | Metrics

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Analysis of Gene Impriting during Assisted Reproductive Technology WANG Cai-zhu;FENG Gui-xue;ZHANG Bo 2013, 32 (6):  468-470.  Abstract ( 1525 )   PDF (884KB) ( 7246 )   Clinical data of human assisted reproduction have shown that the assisted reproductive technology（ART） is associated with spontaneous abortion，premature birth ， perinatal death and low birth weight children，as well as some diseases related to imprinting genes. During gamete and pre-implantation embryo development, any mistakes of genomic imprinting, including erasure, re-establishment and maintenance, would lead defects of embryonic development, even embryonic death. ART manipulation is just in the process of imprinting genes. So, those abnormal outcomes of ART could be related with abnormal expression of imprinted genes. The main manipulation of ART, including ovulation induction, in vitro fertilization（IVF）， intracytoplasmic spern injection（ICSI）, cell biopsy for PGD, and in vitro culture, could influence the gene expression and phenotype， thus affect the growth and development potential of offspring by disturbing the reconstruction and maintenance of genomic imprinting. Related Articles | Metrics

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PTEN and Female Reproduction QIN Xi;LIU Dong-e 2013, 32 (6):  471-474.  Abstract ( 1647 )   PDF (988KB) ( 7270 )   Recent studies found that Pten, a tumor suppressor gene, and PTEN protein played an important role in regulating cell growth， differentiation and apoptosis through the PI3K pathway. In the female reproductive system, PTEN plays an important role in regulating follicular development, reproductive aging and years by controlling the survival and activation of primordial follicles， the proliferation and differentiation of granulosa cells though the PTEN-PI3K-PDK1 signaling networks. By the same networks, PTEN regulates the endometrial proliferation, and the implantation and development of early embryo. Related Articles | Metrics

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Progress of Human Oocyte Cryopreservation Technology GAO Ming;ZHANG Zhi-guo;CAO Yun-xia 2013, 32 (6):  475-477.  Abstract ( 1544 )   PDF (966KB) ( 7309 )   Human oocyte cryopreservation，as one of the fertility preservation technologies，plays key role in assisted reproductive technology（ART）. Due to the limitation of ethics and research condition，the oocyte cryopreservation technology developed slowly in past decades. With the development of freezing-thawing technology and intracytoplasmic sperm injection (ICSI) in recent years, oocyte cryopreservation has been widely used in clinical practice. The traditional slow freezing method has being gradually replaced by vitrification in most IVF centers, because vitrification has advantages of simplicity，higher oocyte survival rate and less cell damage. There are still the potential risks of cross contamination and cell damage during oocyte cryopreservation process, which can be lowered by the closed vitrification system, vapor storage system, and the sterilized liquid nitrogen with ultraviolet radiation (UV). Compared to slowing freezing, vitrification has advantage in reducing oocyte freezing damage. Related Articles | Metrics

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Progress on the Cryopreservation of Male Germ Cell WANG Li;JIANG Hong 2013, 32 (6):  478-480.  Abstract ( 1771 )   PDF (872KB) ( 7393 )   Following the development of intracytoplasmic sperm and haploid spermatid injection techniques，the cryopreservation technology of male germ cell, as important part of assisted reproductive technology (ART), has played a key role in the ART treatment for the couples with male infertility. Freezing methods of male germ cells include the programmed cryopreservation and vitrification freezing. Cryoprotectant，usually classified as permeable and impermeable cryoprotective agents，could minimize the cell injuries during the freeze-thaw. Various frozen carriers such as cryoloop and cryoleaf are widely used in cell cryopreservation. In this paper，the freezing method，carrier，cryoprotectants and frozen effect of male germ cell were reviewed. Related Articles | Metrics

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Application of Natural Antioxidants in Human Sperm Cryopreservation WANG Jing;MA Peng-cheng;LIU Li-jun 2013, 32 (6):  481-484.  Abstract ( 1920 )   PDF (967KB) ( 7288 )   Sperm cryopreservation technique is a basis of assisted reproduction. However，the additional reactive oxygen species （ROS） was produced in the freezing-thawing process，which damaged the physiological structure and function of spermatozoa，and lowered sperm quality and fertility. At present，there were some studies on the protective roles of antioxidants in the sperm cryopreservation. Some natural antioxidants derived from plants are widespread，high efficient and low toxicity. These natural antioxidants can significantly inhibit ROS production，eliminate the sperm damage caused by ROS，and protect sperm activity and genetic stability. In future，these natural antioxidants may be used as additional ingredients in cryoprotective agent for improving sperm cryopreservation. Related Articles | Metrics

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Application of hCG in Assisted Reproductive Technology NIE Xiao-qian;YU Xin-yan 2013, 32 (6):  485-489.  Abstract ( 1493 )   PDF (982KB) ( 7338 )   hCG, a glycoprotein hormone produced by placental syncytiotrophoblast, is a signal molecules of pregnancy. Though hCG has similar structure and same receptor with LH, hCG has higher binding affinity with receptor and longer half-life period when compared with LH. So, exogenous hCG is often used to promote follicular maturation and to support the luteal phase. Besides those effects, hCG is beneficial to follicular raise, growth and development, and to embryonic implantation. In a word, hCG plays an important role in ART clinic and basic research. Related Articles | Metrics

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Obstetric Outcomes of Assisted Reproductive Technology GAO Liang;LI Hong 2013, 32 (6):  490-493.  Abstract ( 1638 )   PDF (955KB) ( 7291 )   The assisted reproductive technology （ART） has met the demands of many infertile couples. With the development of new methods of ART and the increasing population of children conceived via ART，the safety of ART gets more and more attention. In this review，the relationship between ART and pregnancy complications, as well as diverse obstetric outcomes, was discussed. It is suggested that there were increased incidences of hypertensive disorders in pregnancy，obstetric hemorrhage, and gestational diabetes mellitus following ART. In addition，ART children had increased risks of premature，low birthweight, and birth defect. The mechanism of these obstetric outcomes related with ART have not been elucidated; however，those maternal or paternal subfertility may be an important factor. Women with ART pregnancies should get more antenatal care, and give the necessary prenatal screening and diagnosis, so as to have better maternal and perinatal outcomes. Related Articles | Metrics

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Anti-Müllerian Hormone and Inhibin B as Two Predictors for the Ovarian Reserve and Clinical Outcomes after ART DANG Yu-jie;QIN Ying-ying;CHEN Zi-Jiang 2013, 32 (6):  494-497.  Abstract ( 1560 )   PDF (1037KB) ( 7335 )   Female fecundity，which depends on the ovarian reserve，plays important role in human reproduction. The age-related poorer outcome of ART largely attributes to the declined oocyte quality and quantity. Some ovarian reserve tests（ORTs） and predictors have been applied in infertile patients undergoing IVF/ICSI treatment to explore individualized FSH dose regimens. Anti-Müllerian hormone （AMH） and inhibin B（INH B） could be considered as two markers of ovarian reserve and outcomes of ART. It was acceptable that AMH could be used to predict the poor ovarian response，excessive response and ovarian hyperstimulation syndrome，and that INH B was not better predictor than others. In fact，there was a very good predictor to predict accurately the pregnancy outcomes of ART. Related Articles | Metrics

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Application of the Quality Control Systems in IVF Laboratory DU Yong-rui;ZHANG Yun-shan 2013, 32 (6):  498-501.  Abstract ( 1662 )   PDF (1049KB) ( 7268 )   The quality control（QC） system was initially been applied in the clinical testing laboratories. It has been introduced into in vitro fertilization（IVF） laboratory step by step in ten years. This system is helpful for QC of IVF methods and staff duties. IVF laboratory is important part of assisted reproduction technique （ART），because its environment is related to embryonic quality. It is therefore very important to provide embryo the stable culture environment in IVF laboratory by the QC system. The guideline of QC should declare what must be done and what must be prohibited. The Standard Operating Procedures（SOP） of QC system should be updated，so that it can be used smoothly in practice. It is necessary to develop the elaborated QC system for a steady IVF laboratory，which is also fundamental for the normal embryonic development and good clinical outcomes of ART. Related Articles | Metrics

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Regulation of the Wnt Signaling Pathway on the Differentiation of Endometrial-like Cells from Embryonic Stem Cells YU Wen-zhu;SUN Ying-pu 2013, 32 (6):  502-505.  Abstract ( 1640 )   PDF (1009KB) ( 7323 )   Human embryonic stem cells（hESCs） are the most primitive cells with the potential for self-renewal and differentiation of various cell. The signaling pathways play important roles in regulating cellular morphology and function. Present study confirmed that the Wnt signaling pathway, as one of the key factors of differentiation, played an important role in regulating the development of female reproductive system. This pathway plays same key role during the differentiation of endometrial-like cells from embryonic stem cell. This review is about the Wnt signaling pathway in hESCs differentiation to endometrial cells，and the future research. Related Articles | Metrics

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Effect of HOXA10 Gene Expression on Embryonic Implantation in Patients with Endometriosis LI Ping;CAI Xia 2013, 32 (6):  506-508.  Abstract ( 1617 )   PDF (928KB) ( 7299 )   The homebox （HOX） proteins, as the highly conserved transcription factors, determine some body characteristics in many species，including human. HOXA10 is directly involved in the embryogenesis and embryo implantation in uterus by regulating the downstream genes, and estrogen and progesterone levels. In accord with hormones regulation, expression of HOXA10 gene in endometrium has a periodic profile, with the peak expression during the implantation window. Expression of HOXA10 gene in ectopic endometrium is one of important factors related with the “de novo” development of endometrial tissue. There are many factors, which influence embryo implantation, in ectopic endometrium of patients with endometriosis（EMｓ）. It is well known that the embryo implantation failure is one of the main factors of infertility in EMs patients. EMs patients usually do not have the increased expression of HOXA10 in mid-luteal stage, which is one of the reasons of infertility. Related Articles | Metrics