Usually,invasive prenatal diagnosis of birth defects is necessary for pregnant women with advanced age .The classic technology is evaluation of fetal chromosome karyotype which is performed by cytogenetic analysis of amniotic fluid fetal exfoliated cells through amniocentesis in the second trimester .For some pregnant women who were unfit or refused to accept invasive prenatal diagnosis ,the application of new technology makes assessment of risk of fetal abnormalities more accurate .When screening is used to assess risk of fetal abnormalities , the women should be told that the screening technologies cannot substitute for invasive diagnosis testing of fetal exfoliated cells , the reason of older pregnancy and both advantages and limitations of the prenatal diagnosis and screening technologies should be considered , and the risks of invasive prenatal diagnosis and risk of missed diagnosis of abnormal fetal in selection of prenatal diagnosis strategy for pregnant women with advanced age should be compared .

Prenatal diagnosis is vitally important to control birth defects.The mature application of detecting biochemical markers in maternal serum and cytogenetic karyotype analysis of amniotic fluid cells , villi cells and umbilical cord blood cells , as well as the development of fluorescence in situ hybridization , nucleic acid amplification , gene sequencing , chips and other molecular biological techniques , have significantly improved the standards of prenatal diagnosis.The application of high-throughput sequencing , a non-invasive detection technique , ushers the development of prenatal diagnostic techniques into a new stage.In the face of a growing number of and constantly updated test items , it is necessary to assess the advantages and limitations of various prenatal diagnostic techniques , so as to realize scientific selection and combination, and utilize the techniques to their fullest potential.

Anti-müllerian hormone (AMH) is mainly produced by the granulose cells of the developing preantral and antral follicles in women and a reliable marker of the reproductive function of women.The mean terminal t1/2 of AMH is calculated as (27.6 ± 0.8) h.Serum concentration of AMH declines by 5.6％ per year and several reproductive and lifestyle factors are associated with age-specific AMH levels.AMH can be applied to predict the precise age of the menopause and is a marker of ovarian reserve in women of 25 year old and older.Iu the field of assisted reproductive technologies,AMH is beneficial in the individualization of stimulation protocols at controlled ovarian hyperstimulation and may be positively associated with clinical pregnancy rates,live-birth rates and twin gestation after assisted reproduction.The researches of AMH may be helpful in the studies of mechanism of polycystic ovary syndrome (PCOS).AMH measurement may be included as a diagnostic criterion of PCOS and a useful predictive marker for the efficiency of the treatment of PCOS.AMH has been also shown to inhibit tumor growth in vitro and in vivo and can be used as a tumor marker in granulosa cell tumors.By using AMH,ovarian reserve damages caused by different kinds of diseases and treatments,including rheumatoid arthritis,laparoscopic surgeries of endometriomas,chemotherapy of female cancers have been studied.Some researchers have begun to pay attention to the potential relationship between AMH and the function of human brain.In the future,the applications of AMH maybe probably do significant contributions to make ideal and individualized treatment programs in more and more related fields.

In recent years,prenatal diagnosis has a fast development in China,calling for optimized quality control system.The laboratories should take much count of external quality assessment,internal quality control,and pay close attention to pre-experimental quality control as well.The responsible institution should give instructions on laboratory quality control and the new developing technologies in prenatal diagnosis.Well evaluation and clear instructions are needed for these technologies.For doctors and pregnant women,they need know the advantages and disadvantages of all these techniques and make the best choice in their favor.For laboratories,technical standards are needed to standardize their clinical application.

Meckel-Gruber syndrome is a rare,fatal disease.The rate of natal morbidity worldwide is from 1/140 000 to 1/13 250.With the development of ultrasound and molecular diagnosis technology,especially the emergence of the third generation of in vitro fertilization (IVF) and prenatal genetic diagnosis (PGD),it is possible for the genetic carriers to solve the fertility problems.In this review,the recent insight of Meckel-Gruber syndrome diagnostic criteria,possible pathogenesis and differential diagnosis of other diseases were discussed.Through the introduction of the disease,it is hoped to improve clinical understanding of the disease and remind the clinicians pay more attention to rare genetic disorders.It is helpful to improve the ability of the clinical diagnosis of the disease and other rare genetic disorders,and provide eugenic counseling and clinical guidance to the affected families.

Objective To evaluate the effectiveness of multiple quantitative fluorescence PCR ( QF-PCR) as a rapid technique for prenatal diagnosis of common chromosome aneuploidies , in order to optimize the prenatal diagnosis and shorten the period of diagnosis.Methods Totally 731 amniotic fluid samples of pregnant subjects ,who were referred to the Women′s Hospital School of Medicine Zhejiang University during August 2013 and September 2015, were analyzed with conventional karyotype and the QF-PCR technique by short tandem repeat(STR) markers to detect chromosomes 13,18,21,X and Y aneuploidies.There were 558 samples detected by single blind method , 173 samples detected by double blind method.Results All of the 731 amniotic fluid samples were tested in this study by QF-PCR and the results were compared to the conventional cytogenetic analysis results of the same sample.Totally 558 samples with single blind method detected 5 trisomy 21, 2 trisomy 18, 1 trisomy 13, 1(45,X), 1(47,XXY), 1(47,XYY), 1(47,XXX) and 1(69,XXX), 173 samples with double blind method detected 1 trisomy 21 and 1 trisomy 18.The rapid QF-PCR assay was successful to detect all aneuploidies involving chromosomes 21, 18, 13, X and Y in prenatal diagnosis , which were verified by chromosome karyotype analysis.The results of QF-PCR method were compared with the results of chromosome karyotype analysis , the positive rate was 15/16, the negative rate was 100%(715/715).Non chimeric chromosome abnormality detection rate was 15/15.Conclusions The multiple QF-PCR was a reliable method of detecting common chromosome aneuploidies for rapid prenatal diagnosis.As an important supplement of karyotype analysis , it was of great significance to optimize and improve the prenatal diagnosis system , and might provide more appropriate diagnostic methods for pregnant women.

Objective To analyze the features of quality management of maternal serum prenatal screening for Down syndrome in the second trimester and investigate the methods to establish and improve quality control system.Methods Prenatal screening and clinical data were collected for statistical analysis from 17 prenatal screening centers in Zhejiang Province from 2011 to 2012.The impacts of maternal age , weight, gestational age , specimen collection , the median values of serum markers selection and different analysis software on prenatal screening results for Down syndrome were analyzed respectively .Results Totally 417 347 and 463 846 prenatal screening cases were collected in 2011 and 2012 respectively.The maternal age of the entire province presented as a Gaussian distribution.The age distributions of different screening institutions were inconsistent , while maternal weight distributions were similar.The approach to determine gestational age was significantly different among screening institutions.Median MoM of the samples from the blood collection points was different from those of the main screening center.Median MoM-freeβ-hCG was positive bias , particularly the specimens from the blood collection points.After strengthening the control of temperature and time during samples transportation , Median MoM-free β-hCG of specimens from blood collection points became nearly equal to those of main screening center .Use of local median made the median MoM value closer to 1.0 in the centers with positive or negtive bias of the markers , which had little effect in detection rate and decreased the false positive rate and screening positive rate.Six more positive cases were detected by the Lifecycle software instead of 2T software in 213 followed-up positive cases, which means the Lifecycle software can improve the detection rate.Conclusions The impact of maternal age, weight, gestational age, specimen collection and other factors on screening performance should be taken into consideration when it evaluates the screening quality of different laboratory .The use of local medians is necessary in prenatal screening.Optimization of screening analysis software can reduce false negative rate.

Objective To evaluate the distribution of fetal abnormal chromosome karyotype in mid-pregnancy and analyse the possible misdiagnosis risks of molecular techniques in clinical prenatal diagnosis.Methods Fetal karyotype ( fetal cell collected from amniotic fluid ) in Prenatal Diagnosis Center of Zhejiang Province between 2001 and 2010 were retrospectively analyzed on distribution according to 7 different referral indication:positive screening for trisomy 21, trisomy 18, advanced maternal age , abnormal history of pregnancies , abnormal family history , fetal structural abnormalities and others.The combination of trisomy 21, trisomy 18 and trisomy 13 ( T21/18/13 Group) and the aneuploidies of chromosome 21, 18, 13, X, Y (21/18/13/X/Y Group) were further analyzed based on the current molecular target detection range.Results There were 462 cases out of 12 481 with chromosomal abnormality (3.60%, 462/12 841), with 215 cases of high risk (detection rate 1.67%, 215/12 841) and 247 cases of low risk (detection rate 1.92%, 247/12 841).Under different indications , the detection rate on abnormal chromosome of high risk (high-risk CA) is different,“abnormal fetal ultrasound” is the highest(27.27%,24/88).Among the high-risk CA, T21/18/13 Group accounted for 72.56%(156/215), while the 21/18/13/X/Y Group accounted for 94.88%(204/215).For the 7 regular indications , the high-risk CA distribute different;Except the T21/18/13 Group and 21/18/13/X/Y Group, the rates of other abnormal chromosome karyotype in the high risk CA were 0.28%( 2/719 )-12.5%( 11/88 ) and 0.06%( 4/6 915 )-1.14%( 1/88 ) according to different indication, respectively.Conclusions The distribution of abnormal karyotype were different under different referral indication;the detection power and possible misdiagnosis risks were varied under different indication for each molecular technique.It was suggested that doctors should select suitable molecular technique according to different clinical indications and each molecular method has its own limitations .

Objective To explore the attitude toward medication compliance among patients with chronic heart failure. Methods Totals of 8 chronic heart failure patients and 5 medical staffs had been selected to have a in-depth interview for the investigation of medication compliance and current belief of medication taking. Results The behavior of medication incompliance was various for chronic heart failure patients, mainly including the behavior of suspending medication by themselves and adjusting medication dose. The medication compliance had a close relationship with the belief of medication taking. Drug-related convictions included awareness the importance of medicine, efficacy perception, fear of side effects, convenience and accessibility of taking medicine. Conclusions The improvement of patient′s medication compliance requires personal belief of medication taking. We understands the think of medication taking, implements individuals and targeted nursing intervention, so as to improve medication compliance.

Objective To explore the cognitive function status and potential influence factors on cognitive function in hospitalized patients with chronic heart failure.Methods Using a cross-sectional research design,CHF patients(n =267,mean age (63.8 ± 9.4) years) were recruited from two care unitsHeart Failure Care Unit and Intensive Care Unit of our hospital.Cognitive function status was evaluated by the Montreal Cognitive Assessment (MoCA) screen test.Results Based on the MoCA score,37.8％ (101/267) patients suffered from cognitive impairment (score ＜ 26),especially on the three specific cognitive functions-memory,langue and executive capability.Multifactorial analysis showed that after controlling for other factors,there was a downward trend on cognitive function with aging (OR =1.09,95％ CI:1.05-1.14) while higher left ventricular ejection fraction (LVEF) was related to better cognitive function (OR =0.97,95％ CI:0.95-0.99) ; patients who took medicine regularly also had better cognitive function (OR =3.71,95％CI:1.40-10.91); cognitive function was better in patients with high level of social support compared those with low social support (OR =0.92,95％ CI:0.88-0.96).Conclusions Incidence of cognitive impairment is high in hospitalized patients with chronic heart failure.Age,LVEF,whether taking medication regularly and social support are factors related to cognitive function in CHF patients.