Genetic counseling, prenatal screening and diagnosis of Down syndrome in the second trimester in women of advanced maternal age: a prospective study / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>The incidence of autosomal trisomy in livebirths is strongly dependent on maternal age. Special consideration is given to the provision of prenatal screening and cytogenetic testing to women of advanced maternal age (AMA). The aim of this study was to evaluate the effectiveness of second trimester prenatal screening and amniocentesis for Down syndrome (DS) and compare the trends of choice of screening and amniocentesis among AMA women.</p><p><b>METHODS</b>A total of 5404 AMA patients with natural singleton pregnancy were recruited for this prospective study from January 2008 to December 2010. The gestational weeks were from 15 weeks to 20(+6) weeks. The patients referred were grouped into a screening group (2107 cases) and an amniocentesis group (3297 cases) by their own decision. The prevalence of DS was compared between the two groups by chi-square test. Choice rates for each maternal age with trends were compared by regression analysis.</p><p><b>RESULTS</b>There were 18 cases of fetal DS detected in the screening group with a prevalence of 8.54‰ (18/2107). Twenty-five cases of fetal DS were diagnosed in the amniocentesis group with a prevalence of 7.58‰ (25/3297). No statistical difference was observed in the prevalence of DS between the screening and amniocentesis group (P = 0.928). The invasive testing rate for DS in the amniocentesis group was 5.54 times higher than that of the screening group (1/131.88 vs. 1/23.78). With the increase of the maternal age, the choice of amniocentesis increased while the choice of the screening showed an opposite trend. The choice of the AMA women between the screening and amniocentesis was significantly age relevant (P = 0.012).</p><p><b>CONCLUSIONS</b>The second trimester serum screening in combination with maternal age was more effective than maternal age alone to screen for DS. We suggest educating the patients by recommending AMA women be informed of both screening and amniocentesis options.</p>

Management of pregnancy with ankylosing spondylitis / 中国医学科学杂志(英文版)

<p><b>OBJECTIVE</b>To discuss the interaction between pregnancy and ankylosing spondylitis, and the management of pregnancy with ankylosing spondylitis.</p><p><b>METHODS</b>Twelve cases of pregnancy with ankylosing spondylitis in Peking Union Medical College Hospital from September 2004 to July 2011 were analyzed retrospectively, focusing on the arteritis condition, pregnancy complications, and outcomes.</p><p><b>RESULTS</b>All the 12 patients had full-term pregnancy. Five cases gave birth naturally, and 7 cases received cesarean section for maternity factors. No adverse pregnancy outcomes were encountered. Waist pain appeared in 2 cases in the second trimester, for both of which medication failed. One of the 2 cases had natural childbirth, while the other maintained pregnancy smoothly to cesarean section.</p><p><b>CONCLUSIONS</b>Pregnancy monitoring can help obtain favorable pregnancy outcomes. Attention should be paid to postpartum change of the illness.</p>

Prenatal genetic test and clinical guidance for 213 hereditary deaf families / 中华耳鼻咽喉头颈外科杂志

<p><b>OBJECTIVE</b>To summarize the workflow, strategy and experience of prenatal genetic test for deafness based on the 6-year clinical practice.</p><p><b>METHODS</b>There were 213 families who received prenatal test from 2005 to 2011. Among the 213 families, 205 families had had one deaf child, including 204 couples with normal hearing and one couple of the deaf husband and normal wife, 8 families including 6 couples with normal hearing and 2 deaf couples, had no child before test. Genomic and mitochondrial DNA of each subject was extracted from whole blood. The etiology and recurrent risks in 212 families were confirmed by means of the genetic test of GJB2, SLC26A4 and mtDNA 12sRNA, but one family carried POU3F4 c.647G > A heterozygous mutation causing X-linked hereditary hearing impairment confirmed by pedigree study. The prenatal test was carried out during the pregnancy of all mothers from 11 to 30 weeks, and the following genetic information and counseling were supplied based on the results.</p><p><b>RESULTS</b>The recurrent risk was 25% in 209 families, including 204 families with one deaf child and 5 families without child, among which all couples were GJB2 or SLC26A4 mutation carriers and deaf children were caused by homozygous or compound GJB2/SLC26A4 mutations; The recurrent risk was 50% in 3 families, the father and his child in one family had compound SLC26A4 mutations and the mother with heterozygous SLC26A4 mutation, the wife had POU3F4 c.647G > A heterozygous mutation in another one family, and the husband with compound SLC26A4 mutations and the wife with mtDNA A1555G mutation and heterozygous SLC26A4 mutation simultaneously happened in the rest one family; The recurrent risk was 100% in one family of the deaf couple who were both found to carry homozygous or compound GJB2 mutations, and the deaf wife got pregnant by artificial insemination with the sperm from the local Human Sperm Bank. 226 times of prenatal test were applied in all 213 families that 11 families of them received prenatal test twice, and one family received three times. 46 times of prenatal testing showed that the fetuses carried parental mutations simultaneously or the same mutations with probands; while 180 times of prenatal test showed that the fetuses carried only one parental mutation or did not carry any mutation from parents. The following visit showed that all of these 180 families had given birth to babies who were all revealed to have normal hearing by new born hearing screening test.</p><p><b>CONCLUSIONS</b>Prenatal diagnosis for deafness assisted by genetic test can provide efficient information about offspring's hearing condition, and the normative workflow and precise strategy highly guarantee the safe and favorable implementation of prenatal diagnosis.</p>

Influential and prognostic factors of small for gestational age infants / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>Small for gestational age (SGA) infants are associated with a high rate of oligohydramnios, stillbirth and cesarean delivery. Among SGA patients there is a higher risk of neonatal complications, such as polycythemia, hyperbilirubinemia, and hypothermia. Additionally, the SGA infant is prone to suffer from major neurologic sequelae, as well as cardiovascular system disease, in later life. Proper monitoring and therapy during pregnancy are, therefore, of utmost importance. The present study aimed to investigate the influential and prognostic factors of SGA infants.</p><p><b>METHODS</b>From January 2001 to June 2007, a total of 55 SGA neonatal infants were included in a study group. All were born at Peking Union Medical College Hospital, with regular formal antenatal examinations. In addition, a total of 122 cases of appropriate for gestational age (AGA) infants were born at the same time and were registered into a control group. All cases were singleton pregnancies with detailed information of the maternal age, gravidity, parity, maternal height and weight, complications, uterine height and abdominal circumference, results from transabdominal ultrasonography between 32 - 38 gestational weeks, pregnancy duration, delivery manner, placenta, umbilical cord, and neonatal complications.</p><p><b>RESULTS</b>Significant differences were observed in placenta weight and neonatal malformations between the study and control groups. Multivariate analysis revealed increased parity, maternal hyperthyroidism and hyperthyroidism history as risk factors. Fetal abdominal circumferences less than 30 and 32 cm at 32 - 38 gestational weeks respectively, as determined by ultrasonography, resulted in a Youden index of 0.62.</p><p><b>CONCLUSIONS</b>SGA infants were associated with a greater risk of smaller placentas and infant malformations. Increased parity, maternal hyperthyroidism, and a hyperthyroid history were risk factors for SGA infants. Fetal abdominal circumference less than 30 cm at 32 gestational weeks and less than 32 cm at 38 weeks, as determined by ultrasonography, was considered an effective index for SGA.</p>

Pregnancy outcomes of repeat cesarean section in Peking Union Medical College Hospital / 中国医学科学杂志(英文版)

<p><b>OBJECTIVE</b>To evaluate the effect of elective repeat cesarean section on the maternal and neonatal outcomes.</p><p><b>METHODS</b>A retrospective clinic- and hospital-based survey was designed for comparing the maternal and neonatal outcomes of elective repeat cesarean section [RCS group (one previous cesarean section) and MRCS group (two or more previous cesarean sections)] and primary cesarean section (FCS group) at Peking Union Medical College Hospital from January 1998 to December 2007.</p><p><b>RESULTS</b>The incidence of repeat cesarean section increased from 1.26% to 7.32%. The mean gestational age at delivery in RCS group (38.1+/-1.8 weeks) and MRCS group (37.3+/-2.5 weeks) were significantly shorter than that in FCS group (38.9+/-2.1 weeks, all P<0.01). The incidence of complication was 33.8% and 33.3% in RCS group and MRCS group respectively, and was significantly higher than that in FCS group (7.9%, P<0.05). Dense adhesion (13.5% vs. 0.4%, OR=7.156, 95% CI: 1.7-30.7, P<0.01) and uterine rupture (1.0% vs. 0, P<0.05) were commoner in RCS group compared with FCS group. Neonatal morbidity was similar among three groups (P>0.05).</p><p><b>CONCLUSIONS</b>Repeat cesarean section is associated with more complicated surgery technique and increased frequency of maternal morbidity. However, the incidence of neonatal morbidity is similar to primary cesarean section.</p>

Role of different childbirth strategies on pelvic organ prolapse and stress urinary incontinence: a prospective study / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>Traumatic damage to fascial and muscular support structures during childbirth may be a major factor of the development of stress urinary incontinence (SUI) and pelvic organ prolapse (POP). The aim of this study was to prospectively investigate the role of different childbirth strategies on POP and SUI.</p><p><b>METHODS</b>A total of 120 selected pregnant women were recruited and divided into two groups: vaginal delivery group (n = 72) and selective cesarean delivery group (n = 48). The women were questioned with SUI sheet and estimated with POP quantification (POP-Q) within 6 - 8 weeks after delivery. The correlations of SUI and results of POP-Q with the strategies of delivery were analyzed. t test, chi(2) test, and the Mann-Witney test were used for statistical analysis.</p><p><b>RESULTS</b>Among the 120 women, SUI was developed during 29 - 30 gestational weeks in 20 patients (16.6%), of whom 14 (70%) had symptoms of SUI till 6 weeks postpartum. Totally 20 (16.6%) women had SUI symptoms after delivery. The prevalence of postpartum SUI was positively correlated with the occurrence of SUI during 29 - 30 gestational weeks (P < 0.001). In the vaginal delivery group, 100% of the women suffered form urinary prolapse 6 weeks postpartum, while 87.5% of those in the selective cesarean delivery group developed POP (P < 0.01). The percentages of the first- and second-degree urinary prolapse in the vaginal delivery group were 20.8% and 79.2% respectively, which were significantly different from those in the selective cesarean delivery group (64.6% and 22.9%; both P = 0.000).</p><p><b>CONCLUSIONS</b>Pregnancy and delivery play an etiologic role in the development of SUI and POP. The onset of SUI during late pregnancy implies a significant risk of postpartum SUI symptoms. The prevalence of POP is significantly higher after vaginal delivery than after cesarean delivery.</p>

Risk factors in the living environment of early spontaneous abortion pregnant women / 中国医学科学院学报

<p><b>OBJECTIVE</b>To study the relationship between early spontaneous abortion and living environment, and explore the risk factors of spontaneous abortion.</p><p><b>METHODS</b>We conducted analysis based on the interview of 200 spontaneous abortion cases and the matched control (age +/- 2 years) by using multifactor Logistic regression analysis.</p><p><b>RESULTS</b>The proportions of watching TV > or =10 hours/week, operating computer > or =45 hours/week, using copycat, microwave oven and mobile phone, electromagnetism equipment near the dwell or work place, e. g. switch room < or =50 m and launching tower < or =500 m in the cases are significantly higher than those in the controls in single factor analysis (all P < 0.05). After adjusted the effect of other risk factors by multifactor analysis, using microwave oven and mobile phone, contacting abnormal smell of fitment material > or =3 months, having emotional stress during the first term of pregnancy and spontaneous abortion history were significantly associated with risk of spontaneous abortion. The odds ratios of these risk factors were 2.23 and 4.63, respectively.</p><p><b>CONCLUSION</b>Using microwave oven and mobile phone, contacting abnormal smell of fitment material > or =3 months, having emotional stress during the first term of pregnancy, and spontaneous abortion history are risk factors of early spontaneous abortion.</p>

Prenatal diagnosis for hereditary deaf families assisted by genetic testing / 中华耳鼻咽喉头颈外科杂志

<p><b>OBJECTIVE</b>To provide prenatal diagnosis for deaf families, which the first child was confirmed to be hereditary deafness caused by gap junction beta-2 (GJB2) or SLC26A4 (PDS) mutation, to avoid another deaf birth in these families.</p><p><b>METHODS</b>Eight deaf families joined in this study. Each family had one child with severe to profound hearing loss while parents had normal hearing except a deaf father from family 8; mothers had been pregnant for 6-28 weeks. Genetic testing of GJB2, SLC26A4 and mitochondrial DNA (mtDNA) A1555G mutation were firstly performed in probands and their parents whose DNA was extracted from peripheral blood, and then prenatal testing was carried out in the fetus whose DNA was extracted from different fetus materials depending on the time of gestation.</p><p><b>RESULTS</b>The probands from family 1-4 were found to carry homozygous or compound GJB2 mutations while their parents carried corresponding heterozygous GJB2 mutations. The probands from family 5-8 and the deaf father from family 8 were found to carry compound SLC26A4 mutations while their parents and the mother from family 8 carried a single SLC26A4 mutation. Prenatal testing showed that the fetuses from family 1, 5, 8 only carried the paternal mutation and the fetuses from family 2, 3, 6 didn't carry any GJB2 or SLC26A4 mutations. The new born babies from these six families all had normal hearing revealed by new born hearing screening. However, the fetuses from family 4,7 carried the same mutations with probands in each family. The parents from family 4, 7 decide to terminate pregnancy.</p><p><b>CONCLUSION</b>Prenatal diagnosis assisted by genetic testing can provide efficient information about hearing condition of their offsprings.</p>

Application of intrapartum fetal oxygen saturation rate monitoring / 中国医学科学院学报

<p><b>OBJECTIVE</b>To study the accuracy of the application of the intrapartum fetal oxygen saturation (FSO2) monitoring in predicting fetal acidosis and diagnosing intrauterine fetal distress.</p><p><b>METHODS</b>Continuous FSO2 monitoring as well as internal and external fetal heart rate monitoring were applied respectively in 60 women in labor during active phase of the first stage and the second stage. All the monitoring methods were validated with standard sensitivity, specificity, positive predictive value, negative predictive value, and accuracy on the bases of Apgar score and cord artery blood analysis.</p><p><b>RESULTS</b>The mean FSO2 in the active phase of the first stage were significantly higher than in the second stage of labor. FSO2 correlated with pH, PO2, PCO2, and base excess (BE) of cord blood to a significant degree. There was linear correlation between FSO2 and cord artery blood pH. Using 30% cutoff diagnosing intrauterine fetal distress, the sensitivity, specificity, and accuracy were 80%, 100% and 98.3%, respectively.</p><p><b>CONCLUSION</b>FSO2 monitoring is an effective method diagnosing intrauterine fetal distress.</p>

Screening by maternal serum markers for Down's syndrome / 中国医学科学院学报

<p><b>OBJECTIVE</b>To investigate the optimal method of screening for Down's syndrome (DS) with maternal serum mankers.</p><p><b>METHODS</b>Screening by maternal serum markers for Down's syndrome was offered to all 2886 pregnant women in Peking Union Medical Hospital during 1996.11-2001.3. Alpha-fetoprotein (AFP), human chorionic gonadotrophin (free beta-HCG) were used as markers during the first year of pregnancy. Alpha-fetoprotein, free human chorionic gonadotrophin (HCG) and pregnancy-associated plasma protein A (PAPP-A) were used as mid pregnancy and first-trimester markers in next three years. Amniocentesis and (CVS) were done in those defined as risk cases.</p><p><b>RESULTS</b>The detection rate of Down's syndrome by maternal serum markers was 3.8% (11/2886). The proportion of false positive results in group of triple markers (alpha FP, free beta-HCG, PAPP-A) was 5%.</p><p><b>CONCLUSIONS</b>The PAPP-A was a good marker to detect Down's syndrome in early pregnancy and may be used to predict the outcome during mid trimester of pregnancy. The AFP and free beta-HCG can be useful markers to detect Down's syndrome and fetal abnormality. While prenatal diagnostics can be shifted to an early pregnant period.</p>

Transvaginal ultrasound assessment of physiological changes of Chinese women's cervix / 中国医学科学院学报

<p><b>OBJECTIVE</b>To observe Chinese women's cervical physiological changes by transvaginal ultrasound.</p><p><b>METHODS</b>637 normal female volunteers were studied. Cervical length, width and canal width were measured by transvaginal ultrasound. Cervical length multiplied by width was the biggest vertical section area of cervix(cervical area).</p><p><b>RESULTS</b>The cervical length, width, area and canal width in the menopausal women were significant smaller than that in the un-menopausal women (P < 0.0001). Multinomial logistic regression showed that cervical changes were mainly affected by menopause year, gestation and para. The cervical length, width, area and canal width were negative correlated with menopause year significantly. The cervical and canal width were positive correlated with gestation. The regressive equation was Cervical area (cm2) = 3.69 + 0.23 Gastation -0.16 Menopause year.</p><p><b>CONCLUSIONS</b>Cervical physiological changes are mainly affected by the menopause year, gestation and para. The menopause year is the most important factor in the cervical physiological changes.</p>

A technique of continuous medical image digital restoration / 中国医学科学院学报

<p><b>OBJECTIVE</b>To set up a new technique of continuous medical image digital restoration for electronic record management.</p><p><b>METHODS</b>According to Freeman's chain-code principle, 92 fetal cardiotocography were scanned, thinned, trailed, and chain-coded by computer system.</p><p><b>RESULTS</b>92 paper-recorded cardiotocography, were transformed to digital data and saved by computer, 23 parameters were produced, which could be used in further study.</p><p><b>CONCLUSION</b>Capacity of a restoring instrument can be greatly saved since the using of digitalized restoration, so that more useful data can be stored in doctor's workstation. Digitalized data can be much easier used in electronic record management, for convenient studies research.</p>

Study on the correlation of serum folate and red blood cell folate level with birth defects and unexplained recurrent pregnancy loss / 中华妇产科杂志

0.05). The RBC folate level of birth defect group except the urinary defect was significantly lower compared with the control group(233-547 vs 689 nmol/L,P

Effect of different delivery modes on the short-term function of the pelvic floor / 中华妇产科杂志

Objective To investigate the effect of different delivery modes and related obstetric factors on the short-term function of the pelvic floor.Methods One hundred and twenty healthy primiparae women were interviewed at 6-8 weeks postpartum,with 72 women in the vaginal delivery group and 48 women in the elective cesarean section group.Questionnaire on stress urinary incontinence and measurement of diastolic and contractive function of the pelvic floor muscles by electromyogram(EMG)were used for the evaluation and comparison.Results The prevalence of stress urinary incontinence in the vaginal delivery group and the elective cesarean section group was 21% and 10%(P=0.134),respectively.The values of the right act,right work,and average work surveyed by EMG in vaginal delivery group were significantly lower than those in cesarean section group(right act,12.9?0.8 vs 17.3?1.7,P

Clinical analysis of maternal and neonatal outcomes in uncomplicated term nulliparous after different routes of delivery / 中华妇产科杂志

Objective To compare maternal and neonatal outcomes after induction,elective cesarean section and spontaneous onset of labor in uncomplicated term nulliparous women.Methods A total of 3751 uncomplicated term nullipara who delivered in Peking Union Medical College Hospital from Sept 2002 to April 2007 were retrospectively analyzed.They were divided into three groups:the induction group, the elective cesarean section group,and the spontaneous onset of labor group.Their general conditions (such as age,weeks of pregnancy,hospital days and cost),postpartum complications(such as postpartum hemorrhage,puerperal morbidity,urinary retention,blood transfusion,delayed healing,and trauma),and Apgar score were compared by statistic methods.Results(1)Among 3751 women,501(13.3%)of them underwent induction(the induction group),1634(43.6%)delivered by cesarean section(cesarean section group),the other 1616(43.1%)women underwent spontaneous onset of labor(the spontaneous onset of labor group).(2)Results of general conditions:the spontaneous onset of labor group had the shortest hospital days,which was longer in the induction group,and the longest in the selective cesarean section group(P