Total alpha-fetoprotein and Lens culinaris agglutinin-reactive alpha-fetoprotein in fetal chromosomal abnormalities

Objective To examine the differences in multiples of the median (MoM) of total alpha-fetoprotein, and the proportion of Lens culinaris agglutinin reactive alpha-fetoprotein (% alpha-fetoprotein-L2+L3) in the maternal serum and amniotic fluid of pregnant women whose fetuses were diagnosed with autosomal or sex chromosomal abnormalities.
Design Prospective consecutive series.
Setting University hospital.
Sample Maternal sera and amniotic fluids from 46 pregnant women with trisomy 21 fetuses, 10 pregnant women with trisomy 18 fetuses, one pregnant woman with a trisomy 13 fetus, six pregnant women with fetal sex chromosomal abnormalities, and 100 pregnant women for whom the fetal karyotype was diagnosed as normal following a genetic amniocentesis.
Results The proportion of alpha-fetoprotein-L2+L3 in maternal serum for trisomy 21 (40.3%, P <0.0001) and trisomy 18 (39.8%,   P <0.05  ) showed a significantly higher value compared with normal (32.6%). The proportion of alpha-fetoprotein-L2+L3 in amniotic fluid was significantly higher (   P <0.0001  ) for trisomy 21 (46.6%) than for a normal karyotype (41.5%). Only for the trisomy 21 group was there a strong correlation in the % alpha-fetoprotein-L2+L3 between maternal serum and amniotic fluid (r=0.840, P <0.0001). For all groups, there was no correlation between alpha-fetoprotein MoM and % alpha-fetoprotein-L2+L3 in maternal serum and amniotic fluid.
Conclusion The proportion of alpha-fetoprotein-L2+L3 in maternal serum is an appropriate choice for a trisomy 21 biochemical marker, and it is possible that combining alpha-fetoprotein-L2+L3 analysis with assays of alpha-fetoprotein in maternal serum could further improve the sensitivity and specificity of multiple marker screening.     

The usefulness of ultrasound assessment of amniotic fluid in predicting adverse outcome in prolonged pregnancy: a prospective blinded observational study

Objective To determine whether a single ultrasound scan at or beyond 40 weeks of gestation to detect a single deepest pool of amniotic fluid  <2 cm  and amniotic fluid index (AFI)  <5 cm  is clinically useful in the prediction of subsequent adverse pregnancy outcome.
Design A prospective double blind cohort study.
Setting A university teaching hospital delivering approximately 6000 women annually.
Population One thousand and five hundred and eighty-four pregnant women at or beyond 40 weeks of gestation.
Methods Ultrasound assessment of liquor to detect the single deepest pool of amniotic fluid and derive the AFI at or after 40 weeks of gestation.
Main outcome measures Perinatal death, meconium aspiration, birth asphyxia, intervention in labour for fetal distress, a cord arterial  pH <7  and admission to the neonatal unit.
Results An  AFI <5 cm  but not a single deepest pool  <2 cm  was significantly associated with birth asphyxia or meconium aspiration. An  AFI <5 cm  was also significantly associated with caesarean section for fetal distress in labour, a cord arterial  pH <7  at delivery and low Apgar scores. Despite there being a statistically significant association with adverse outcomes the sensitivity of AFI was low at 28.6%, 12% and 11.5% for major adverse outcome, fetal distress in labour or admission to the neonatal unit, respectively.
Conclusions The AFI is superior to a measure of the single deepest pool as an assessment of the fetus at or after 40 weeks but has a poor sensitivity for adverse pregnancy outcome. Routine use is likely to lead to increased obstetric intervention without improvement in perinatal outcomes.     

Amniotic fluid nitric oxide and uteroplacental blood flow in pregnancy complicated by intrauterine growth retardation

Objective To examine the correlation between placental nitric oxide production and uteroplacental blood flow.
Participants Thirty-one pregnant women with fetuses with intrauterine growth retardation and 27 normal pregnancies as controls.
Design Correlation between amniotic fluid measurements of nitrite metabolite in the third trimester and flow velocimetry waveforms recorded from uterine, umbilical and fetal middle cerebral arteries. Intrauterine growth retarded pregnancies were compared with controls.
Main outcome measures Concentrations of nitric oxide metabolites (NO₂^- and NO₃^-) in amniotic fluid were correlated with flow velocimetry waveforms findings by the determination of correlation coefficient.
Results Overall median nitrite values in amniotic fluid were higher (   P < 0.01  ) in intrauterine growth retarded patients (median 8.6 μmol/mg creatinine) than in controls (5.6 μmol/mg creatinine). Pathologic uterine flow velocimetry waveforms in uterine artery (-2SD) were observed in 12 women of the intrauterine growth retarded group, and the concentration of amniotic fluid nitrite was significantly lower (   P < 0.01  ) in these patients (median 4.45 μmol/mg creatinine) than in those with normal flow velocity waveforms (median 11.43 μmol/mg creatinine). A significant negative correlation was observed between nitrite concentrations and uterine artery resistance index, umbilical artery pulsatility index and umbilical artery pulsatility index:middle cerebral artery pulsatility index ratio.
Conclusions We conclude that placental nitric oxide is significantly associated with uteroplacental blood flow and may be important in maintaining adequate uteroplacental perfusion in intrauterine growth retarded pregnancies.     

Serum cystatin C reflects glomerular endotheliosis in normal, hypertensive and pre-eclamptic pregnancies

Objective To study the correlation between serum cystatin C levels and renal structural changes in normal, hypertensive and pre-eclamptic pregnancy to evaluate it as a marker of the degree of renal involvement in pre-eclampsia.
Design An observational prospective study.
Setting University Hospital of Lund, Sweden.
Sample Thirty-six women with hypertensive disease in pregnancy and 12 healthy pregnant women in the third trimester recruited from maternal health care centres in the catchment area of the hospital.
Methods Renal biopsy samples were obtained from all participants and the degree of endotheliosis as well as the mean glomerular volume was evaluated by light microscopy in silver methenamin-stained sections. Serum cystatin C levels were measured and correlated to the structural changes.
Main outcome measures Correlation among degree of glomerular endotheliosis, glomerular volume andserum cystatin C.
Results Serum cystatin C levels differed between the different degrees of endotheliosis, showing a highly significant increasing linear trend. They also correlated significantly with glomerular volume (   r = 0.60, P < 0.001  ). Mean serum urate and creatinine levels also increased with the degree of endotheliosis, but not above the reference interval for normal term pregnancy, even in pre-eclamptic women.
Conclusion Serum cystatin C may be used as a marker, not only for impaired renal function, but also for the degree of glomerular endotheliosis and increase in glomerular volume in pregnancy. It may be of value in the monitoring of pregnancies complicated by pre-eclampsia.     

Prenatal diagnosis of fetal primary cytomegalovirus infection

Objective To determine the reliability of prenatal diagnosis for congenital cytomegalovirus in women with primary infection.
Design Retrospective analysis of case records between 1992 and 1997.
Setting Fetal medicine unit of a large teaching hospital.
Population Forty-two pregnant women with primary cytomegalovirus infection.
Methods Fetal diagnosis was made by amniocentesis for viral culture and amplification of cytomegalovirus DNA by polymerase chain reaction (   n = 37  ), or by cordocentesis for the detection of cytomegalovirus -specific IgM antibodies (   n = 13  ). All patients had serial ultrasonographic scans in order to detect those fetuses with abnormalities that could be associated with cytomegalovirus infection.
Results Fourteen pregnancies (33.3%) had evidence of vertical transmission. Nine out of 14 (64.3%) had positive amniotic fluid culture, while 11 (78.6%) had positive polymerase chain reaction results. The combination of both tests allowed antenatal diagnosis in 12 of the 14 infected fetuses (sensitivity 85.7%). All women who underwent cordocentesis for the detection of cytomegalovirus-specific IgM antibodies had negative results, but in two cases cytomegalovirus infection was detected by amniotic fluid studies. In five of the infected fetuses there were abnormal ultrasonographic findings. All pregnancies with evidence of vertical transmission were terminated and the remainder proceeded normally to term.
Conclusions Our data showed that amniotic fluid studies, preferably polymerase chain reaction amplification of viral DNA, are the best diagnostic tools for the detection of vertical transmission in pregnancies with primary cytomegalovirus infection. For women with positive amniotic fluid studies who elect to continue their pregnancies, cordocentesis and serial ultrasound scans may be useful for assessment of fetal status.     

孕妇与胎儿巨细胞病毒感染的研究

目的 :探讨孕妇巨细胞病毒 (CMV)感染 ,早期诊断胎儿CMV感染。方法 :用酶联免疫法 (ELISA)和多聚酶链反应 (PCR)技术检测孕妇血中CMV特异性抗体及CMVDNA ,诊断孕妇CMV感染 ;检测羊水或脐血中CMVDNA诊断胎儿CMV感染。结果 :15 64例孕妇血清中CMV IgM阳性 2 9例 (占 1.8% ) ,CMV IgG阳性 130 6例 (83.5 % ) ,CMVDNA阳性 12 6例 (8.1% ) ;CMV IgM阳性者其CMVDNA均阳性。CMVDNA阳性的 12 6例孕妇其羊水或脐血中CMVDNA阳性 5 2例 (占 4 1.2 % ) ,CMV感染胎儿中有 5例胎儿畸形、2例死胎、3例IUGR ,出生时无明显症状的婴儿中 3例生后 1个月内患黄疸性肝炎 ,1例患新生儿肺炎。 1例发现室间隔缺损、2例出现单侧耳聋。结论 :孕妇CMV感染可造成胎儿严重危害 ,孕妇CMV感染后取羊水或脐血检测CMVDNA是诊断胎儿及新生儿CMV感染的最佳方法。     

Cystatin C in healthy women at term pregnancy and in their infant newborns: relationship between maternal and neonatal serum levels and reference values

Human cystatin C, a basic low molecular mass protein with 120 amino acid residues, is freely filtered by the glomerulus and almost completely reabsorbed and catabolized by the proximal tubular cells. Cystatin C has been recently proposed as a new sensitive endogenous serum marker for the early assessment of changes in the glomerular filtration rate. To define a reference basis for future clinical investigations in the perinatal period, we investigated the relationship between maternal and neonatal serum cystatin C in comparison with that of creatinine. We also defined reference values in healthy women at full-term pregnancy and in full-term newborns over the first 5 days of life. Seventy-eight women with uncomplicated pregnancy, aged between 19 and 40 years, and their infant newborns (43 males, 35 females) were enrolled in the study. The gestational age ranged from 37 to 43 weeks, and the birth weight from 2.50 to 4.15 kg. Blood samples were taken from all the women immediately before delivery and from their newborns at birth, 72 and 96 h after birth. Maternal and neonatal renal function was evaluated by standards parameters and by calculating creatinine clearance. In all serum samples, we measured cystatin C, creatinine, and urea. At term gestation, serum cystatin C ranged from 0.64 to 2.30 mg/L. At birth, serum cystatin C values ranged from 1.17 to 3.06 mg/L, significantly decreasing after 3 and 5 days of life. No correlation was found between maternal and neonatal serum cystatin C values (r = 0.09). As cystatin C serum levels in newborns are not significantly correlated with the respective maternal levels, neonatal serum cystatin C may originate almost exclusively in the neonate.     

Epidermal growth factor in urine of pregnant women and in amniotic fluid throughout pregnancy

To investigate the role of epidermal growth factor (EGF) in feto-placental development, we measured the urinary and amniotic fluid EGF levels throughout pregnancy. Thirty urinary samples of non-pregnant women, 85 of normal pregnant women, 21 of women with toxemic pregnancy, 17 of postpartum women and 30 of newborns, and 55 amniotic fluid samples of pregnant women with a variety of conditions necessitating amniotomy and amniocentesis at 25-39 weeks of gestation were collected. EGF concentrations were measured by double-antibody radioimmunoassay. Urinary EGF levels of pregnant women reached their peak (24.6 +/- 6.7 ng/mg creatinine) at 19-22 gestational weeks; after that, they slightly decreased. Although there is no significant difference between the urinary EGF levels of non-pregnant women (19.0 +/- 5.1) and those of pregnant women (18.1 +/- 3.2), the EGF levels of toxemic women (12.2 +/- 1.5) were lower than those of normal pregnant women. The levels in puerperium women were similar to those found during pregnancy. However, the neonates had higher urinary EGF concentrations than those in pregnant women. On the other hand, EGF levels in amniotic fluid were higher according to gestational weeks and the levels of intrauterine growth retardation (IUGR) cases lower compared with normal pregnancy. Furthermore, EGF concentrations in amniotic fluid have a significant correlation with the creatinine levels in amniotic fluid. These data suggest that EGF plays an important role in fetoplacental development and it is possible that the measurement of amniotic fluid EGF might become available for the clinical assessment of fetal maturation.     

Diagnosis of fetal parvovirus B19 infection: value of virological assays in fetal specimens

Objective  The purpose of our work was to examine the most reliable laboratory diagnosis of fetal parvovirus B19 infection in hydropic fetuses by evaluating the most appropriate clinical sample and laboratory test.
Design  B19 DNA detection in fetal samples and serological signs of B19 infection in the respective mothers. Samples collected between January 2000 and July 2008.
Setting  Microbiology, University of Bologna, Bologna, Italy.
Samples One hundred thirty-five fetal samples (58 fetal cord blood and 77 amniotic fluid samples) and 109 serum samples collected from 109 pregnant women.
Methods  Validated and certified in situ hybridisation assay (ISH) and polymerase chain reaction–enzyme-linked immunosorbent assay (PCR-ELISA) were performed on fetal samples to detect B19 DNA. B19-specific antibodies were investigated in maternal serum samples by a commercial enzyme immunoassay.
Main outcome measures  Parvovirus B19 DNA detection in fetal specimens was analysed in relation to maternal serological signs of infection.
Results  Parvovirus B19 DNA was detected in 22.41% of fetal cord blood and 36.36% of amniotic fluid samples. A statistically significant difference was found between DNA detection by ISH (23.70%) and PCR-ELISA (14.81%) ( P = 0.004). Only 11.76% of fetuses with virological diagnosis of B19 infection were from women with serological signs of acute/recent B19 infection.
Conclusions  Diagnosis of fetal parvovirus B19 infection cannot always rely on maternal serological investigations but rather on the virological analysis of fetal samples. Both fetal cord blood and amniotic fluid samples are suitable for diagnosis, but the detection of B19 DNA in the cells of amniotic fluid samples by ISH proved to be the most reliable diagnostic system.     

Isolated oligohydramnios is not associated with adverse perinatal outcomes

Objective   To examine fetal growth and perinatal outcomes in pregnancies with isolated oligohydramnios.
Design   A cohort study.
Setting   Multiple clinics and hospitals.
Population   Low risk pregnant women.
Methods   We used data from the multicentre clinical trial of Routine Antenatal Diagnostic Imaging with UltraSound (RADIUS), in which 15,151 low risk pregnant women were randomly assigned to the ultrasound screening group or the control group. Women in the screening group underwent sonographic exams at 15–22 and 31–35 weeks of gestation. Both groups could have clinically indicated sonographic exams at any time.
Main outcome measures   We used changes of fetal weight z -score to assess whether fetal growth was compromised from the diagnosis of oligohydramnios until delivery, using a repeated-measures regression. We used a combined perinatal index as an indicator of adverse perinatal outcome, which consisted of severe perinatal morbidity and mortality.
Results   Oligohydramnios (amniotic fluid index ≤5 cm) was diagnosed in 1.5% (113/7617) of women with ultrasound screening compared with 0.8% (57/7534) among the controls. Approximately half of the oligohydramnios cases in the screening group were isolated with no clearly associated factors (e.g. premature rupture of the fetal membranes, congenital anomalies, diabetes, hypertension, postdate and intrauterine growth restriction). Fetal weight centiles in isolated oligohydramnios cases did not change significantly from diagnosis until delivery. Pregnancies with isolated oligohydramnios had perinatal outcomes similar to pregnancies with a normal amniotic fluid index.
Conclusion   Isolated oligohydramnios is not associated with impaired fetal growth or an increased risk of adverse perinatal outcomes.     

Amniotic fluid interleukin-18 at mid-trimester genetic amniocentesis: relationship to intraamniotic microbial invasion and preterm delivery

Objective  To determine the value of amniotic fluid interleukin-18 (AF IL-18) in the diagnosis of microbial invasion of the amniotic cavity and prediction of preterm delivery (PTD).
Design  Analysis of the results of AF collected prospectively following genetic amniocentesis between February 2006 and September 2007.
Setting  A tertiary referral centre for fetal medicine.
Methods  Following amniocentesis, a sample of amniotic fluid was transferred to the laboratory for aerobic and anaerobic bacterial cultures, Ureaplasma urealyticum culture and IL-18 assays. All women who delivered preterm (<37 weeks of gestation) formed the study group. The control group consisted of the two subsequent women who also underwent amniocentesis during the same time period and delivered a normal neonate at term, matched for maternal age, parity and indication for amniocentesis.
Main outcome measures  The relationship between AF IL-18 levels and the risk of both microbial invasion of the amniotic cavity and PTD.
Results  Forty-eight women who delivered preterm (<37 weeks) were matched with 96 controls. The preterm delivery group had significantly higher concentrations of IL-18 (median = 609 pg/ml, interquartile range: 445.7–782.7) compared to controls (median = 322.1 pg/ml, interquartile range: 277.7–414.4), ( P  < 0.001). IL-18 level was also significantly higher ( P  < 0.001) in cases with positive amniotic fluid cultures (median = 697.7, interquartile range: 609.0–847.2) compared to those with negative ones (median = 330.9 pg/ml, interquartile range: 235.2–440.8).
Conclusions  Elevated mid-trimester concentrations of AF IL-18 can identify women at risk for intraamniotic infection and spontaneous PTD.     

Fetal cardiac function and septal thickness in diabetic pregnancy: a controlled observational and reproducibility study

Objective To determine the reproducibility of duplex Doppler waveform analysis and fetal cardiac interventricular septal thickness measurement and to compare these parameters in matched pregnancies with and without well-controlled maternal Type 1 diabetes at 18–20 weeks of gestation.
Design A prospective blind twin cohort study and a blinded inter-observer and intra-observer agreement study.
Setting A tertiary referral prenatal diagnostic unit within a university hospital.
Results Good inter- and intra-observer agreement was found for the measurement of transvalvular peak flow velocities and the duration of ventricular ejection in the fetal heart. Inter-observer agreement for aortic flow acceleration rate was poor. M-mode measurement of interventricular septal thickness showed moderate reproducibility. The mean (SD) width of the interventricular septum in the fetuses of well controlled diabetic women was 2.1 mm ( 0.2 mm), and was significantly greater (   P = 0.01  ) when compared with the corresponding value in matched controls [1.9 mm (0.2 mm)]. No cardiac functional differences were evident.
Conclusions On-screen video analysis of Doppler cardiac flow waveforms and M-mode measurement of intraventricular septal thickness demonstrated good reproducibility. The fetuses of well controlled diabetic pregnancies demonstrated signs of altered cardiac morphology early in pregnancy, before any evident alterations in cardiac function.     

Serum cystatin C in pregnancies with normal and restricted fetal growth

The objective of this study was to investigate circulating levels of cystatin C (an important endogenous marker of renal function) in mothers, fetuses, and neonates from intrauterine growth-restricted (IUGR; characterized by impaired nephrogenesis) and appropriate-for-gestational-age (AGA) pregnancies. Serum cystatin C levels were measured by enzyme immunoassay in 40 parturients and their 20 IUGR (or= 0.376 and P 相似文献   

Circulating markers of oxidative stress are raised in normal pregnancy and pre-eclampsia

Objective To determine whether circulating markers of oxidative stress are elevated in pre-eclampsia when appropriate precautions are taken to prevent in vitro oxidation
Design A prospective study.
Setting Nuffield Department of Obstetrics and Gynaecology, Oxford and The William Harvey Institute, London.
Sample Three groups of women: those with pre-eclampsia (  n = 19  ), control pregnant (  n = 19  ) matched for gestation, age and parity and a group of non pregnant individuals reproductive age (n = 7).
Methods Citrated plasma was stored at −80°C with 20 μmol β hydroxytoluene to prevent auto-oxidation. Plasma samples were assayed for levels of 8 epi-prostaglandin F_2α, lipid hydroperoxides, malondialdehyde and also the lipid soluble antioxidant vitamin E.
Results There were no differences in 8 epi-prostaglandin F_2α lipid peroxide or malondialdehyde levels between the groups of women with pre-eclampsia and those acting as pregnant controls. However, lipid hydroperoxides and malondialdehyde were significantly raised in both pre-eclampsia and normal pregnancy, compared with nonpregnant women. Vitamin E levels were similar in women with pre-eclampsia and those with a normal pregnancy, but in both groups levels were significantly higher than in nonpregnant women.
Conclusion Circulating markers of oxidative stress are raised in normal pregnancy and pre-eclampsia.     

Maternal human parvovirus B19 infection and the risk of fetal death and low birthweight: a case–control study within 35 940 pregnant women

Objectives  To assess the association between maternal parvovirus B19 infection and fetal death, birthweight and length of gestation.
Design  Case–control study.
Setting  Population based.
Population  Cases were all 281 women with fetal death within a cohort of 35 940 pregnant woxmen in Norway. The control group consisted of a random sample of 957 women with a live born child.
Method  Information on pregnancy outcome was obtained from the Medical Birth Registry of Norway. First trimester serum samples were tested for antibodies against parvovirus B19 (IgM and IgG). In seronegative women, further serum was analysed to detect seroconversion during pregnancy.
Main outcome measures  Fetal death, length of gestation and birthweight.
Results  Two of 281 (0.7%) of the women who experienced fetal death and nine of 957 (0.9%) of the controls had presence of IgM antibodies, crude odds ratio 0.8; 95% CI (0.2–3.5). In initially, seronegative women, 3.1% (2/65) with fetal death and 2.6% (8/307) with a live birth seroconverted, crude odds ratio 1.2; 95% CI (0.2–5.7). Presence of maternal parvovirus-specific IgG or IgM antibodies in the first trimester, or seroconversion during pregnancy were not associated with lower birthweight or reduced length of gestation in live born children, but was associated with low birthweight in stillborn offspring.
Conclusion  Maternal parvovirus B19 infection was not associated with fetal death in our study. Very few cases of fetal death may be attributed to maternal parvovirus B19 infection.     

Alphafoetoprotein and acetylcholinesterase in amniotic fluid as a factor suggesting fetal skin and nerve lesions in a case of congenital varicella syndrome

BACKGROUND: Prenatal care of pregnant women exposed to varicella skin rash during the first half of pregnancy remains a frequent concern in countries that do not have access to systematic vaccination. The frequency of maternofetal transmission is low. Ultrasound is the usual tool for prenatal survey of exposed fetuses. But many anomalies due to VZV infection are not accessible to ultrasound alone. CASE REPORT: We review a case in which the diagnosis of fetal infection suspected due to transient fetal bowel hyperechogenicity was confirmed in amniotic fluid by molecular biology (PCR). RESULTS: An unusual elevation of alphafoetoprotein in maternal blood and in amniotic fluid was associated with inguinal skin, muscular and nerve destruction. CONCLUSION: In fetuses diagnosed with in utero varicella infection, in addition to a precise diagnosis and follow-up, we suggest that elevated AFP levels in maternal blood and amniotic fluid together with the presence of acetylcholinesterase in amniotic fluid may be related to lesion of fetal skin and nerves.     

Fetal Rhesus D genotyping on amniocytes in alloimmunised pregnancies using fluorescence duplex polymerase chain reaction

Objective 1. To establish the reliability of fetal amniocyte Rhesus D (RhD) genotyping using fluorescence duplex polymerase chain reaction (PCR) and 2. to assess the potential clinical impact on management of alloimmunised pregnancies.
Design Multicentre observational study.
Setting Four departments of obstetrics and gynaecology in Germany.
Methods Fourty-four amniotic fluid samples were obtained by amniocentesis from a retrospective group of 27 RhD alloimmunised pregnancies and 15 samples from 14 women treated prospectively. Two RhD gene specific fragments (exon 7 and 10) were amplified using two separate fluorescence duplex PCR assays, and laser detected in an automated DNA sequence analyser.
Results Amplification of the Rh gene sequences was successful in all samples. PCR at the two RhD gene regions resulted in complete concordance. Genotyping correctly predicted the RhD status of all fetuses serotyped (   n = 41  ). After intrauterine transfusions, PCR identified the RhD type of two fetuses more accurately than serotyping. Earlier knowledge of a negative RhD status would have rendered unneccessary 12 amniocenteses in four fetuses of the retrospective study group, and pre- vented further invasive testing in one fetus treated prospectively. In the latter group, women with a positive fetal RhD genotype underwent intensive prenatal care including serial invasive monitoring and intrauterine treatment.
Conclusions Fetal RhD genotyping of amniocytes is a reliable technique with the potential to improve routine management of alloimmunised pregnant women.     

Effect of fasting during Ramadan on fetal development and maternal health

Aim:  The aim of the present study was to determine whether fasting during Ramadan causes ketonemia and/or ketonuria and their effects on fetal intrauterine development.
Methods:  Thirty-six consecutive healthy women with uncomplicated pregnancies of ≥20 weeks of gestation who were fasting during Ramadan were included in the study group (group 1). The control group (group 2) consisted of 29 healthy pregnant women who were not fasting. Doppler ultrasonography was performed in all subjects in the beginning and at the end of Ramadan to evaluate the changes in the following measurements: fetal biparietal diameter; fetal femur length; and estimated fetal body weight. Fetal biophysical profile, amniotic fluid index, and umbilical artery systole/diastole ratio were measured in the beginning and at the end of Ramadan. Effects of fasting on the mother were evaluated by measuring serum concentrations of 3ß hydroxybutyrate and glucose, and urinary concentration of ketone. Subjects with any of the followings were excluded: diabetes; thyroid dysfunction; Cushing's syndrome; adrenal disease; pre-eclampsia; and multiple pregnancy.
Results:  The mean duration of fasting in the study group was 18 ± 2.1 days. The mean maternal glucose level was significantly lower in the study group than in the control group ( P  = 0.003). No statistically significant differences were found between the two groups in the comparisons of other parameters.
Conclusion:  We concluded that fasting during Ramadan does not lead to maternal ketonemia or ketonuria in pregnant women. In addition, fasting during Ramadan has no significant adverse effect on intrauterine fetal development or the fetus's health.     

荧光定量PCR技术用于行遗传性耳聋基因检测胎儿的21三体综合征筛查的可行性

目的 探讨荧光定量PCR(QF-PCR)技术用于产前行遗传性耳聋基因检测的胎儿筛查21三体综合征的可行性.方法 选择2009年3月至2010年5月在解放军总医院行产前遗传性耳聋基因检测的54例孕妇为研究对象.所有行遗传性耳聋基因检测孕妇的家庭中的先证者均经过解放军总医院耳鼻咽喉研究所聋病分子诊断中心明确了耳聋致病基因.54例孕妇平均年龄31岁,其中9例≥35岁;孕周为18～26周,其中＞23孕周的孕妇有5例.孕18～23周的49例孕妇取羊水15～20 ml进行胎儿耳聋基因检测,孕周＞23周的5例,取新生儿脐带血1～2 ml进行相关耳聋基因检测.年龄≥35岁的9例孕妇中,5例同时进行了羊水细胞培养和染色体核型分析.采用QF-PCR技术诊断21三体综合征,共选择21号染色体杂合度高的9种短串联重复序列(STR)分子标记,选定6对引物分两种组合进行多重扩增,21三体综合征诊断标准为21号染色体2个以上STR位点出现1∶1∶1等比例峰及2∶1比例峰,或1∶2比例峰,即可明确诊断.结果 (1)遗传性耳聋基因的检测及其随访结果:54例胎儿均成功进行了相应的耳聋基因(包括GJB2基因、SLC26A4基因等)检测.10例胎儿的耳聋基因与先证者的基因类型相同,选择终止妊娠;其余44例没有重复先证者的基因类型,临床预测不会罹患由先证者基因改变引起的耳聋,选择继续妊娠,现均已分娩,新生儿出生后由专人随访,检查其听力均正常.(2)QF-PCR技术诊断21三体综合征的结果:54例胎儿全部检测成功,两对组合引物同时扩增后,均明确排除21三体综合征的诊断.5例高龄孕妇同时进行了胎儿染色体核型分析也均未见异常.新生儿出生后随访其发育情况,从外观也排除了21三体综合征的诊断.QF-PCR技术检测结果在1～3 d即可获得,无漏诊及误诊.结论 对于产前行遗传性耳聋基因诊断及其他产前基因诊断的胎儿,同时行QF-PCR技术检测可明确胎儿是否为21三体综合征;QF-PCR技术检测21三体综合征具有快速、准确、价格低廉及高通量等优点,且不增加羊水及脐血标本的抽取量.

Abstract：

Objective To establish the genetic test technique of trisomy 21 concurrently conducts with prenatal diagnosis for hereditary hearing loss. Methods Fifty-four pregnant women who underwent prenatal diagnosis for hearing loss of their fetuses in Chinese People's Liberation Army General Hospital from March 2009 to May 2010 were enrolled in this study. All probands from the deaf families have confirmed the causative mutation for hearing loss in Genetic Testing Center in Chinese People's Liberation Army General Hospital. The mean age of 54 pregnant women is 31 years at pregnancy of 18 - 26 weeks, 5 cases ＞ pregnancy of 23 weeks, 9 cases ≥ 35 years. All subjects did not conduct the serologic tests for trisomy 21before. Fifteen to twenty ml amniotic fluid was drawn from 49 cases at pregnancy of 18 - 23 weeks and 5 cases ＞ pregnancy of 23 weeks. One to two ml umbilical blood was drawn from 5 cases ＞ pregnancy of 23 weeks. For 9 cases ≥ 35 years, amniotic fluid cell culture and karyotyping analysis were conducted concurrently. A multiple quantitative fluorescent ( QF) PCR and six microsatellite markers were applied to as trisomy 21. Results (1) Fifty-four fetuses were successfully conducted prenatal genetic diagnosis for hearing loss (included GJB2 and SLC26A4). Ten fetuses copied the exactly same genotypes as the probands. The other 44 cases fetuses did not copy the same genotypes as the probands and won't develop hearing loss. The hearing test showed normal hearing for the neonates. (2) All the 54 fetuses were excluded of trisomy 21 by QF-PCR and were verified after birth. Five fetuses with advanced maternal age were performed karyotyping analysis and showed normal. The diagnostic results of QF-PCR can be obtained in 1 - 3 days without misdiagnosed. Conclusions QF-PCR is an efficient, rapid and accurate technique for detection of trisomy 21 without increasing sample amount. It can be used for fetuses who were undertaken hearing loss gene test or other prenatal gene test.     

Fetal sex dependent hormone levels in early pregnant women with elevated maternal serum alpha-fetoprotein

Maternal serum and amniotic hormone levels have been investigated in two groups of women in pregnancy weeks 18-21. One group (B) was composed of women with high alpha-fetoprotein levels in serum without fetal abnormality, and a matched control group (A) with normal alpha-fetoprotein levels in serum. Amongst group B women were four pregnancy complications: two spontaneous abortions, one premature delivery, and one cesarean section due to fetal asphyxia. Group B women were significantly different from group A women. Thus, higher maternal serum levels of total estriol (P = 0.030), testosterone (P = 0.016), and alpha-fetoprotein (P = 0.018) were noted in the presence of male fetuses; and higher hPL (P = 0.004), FSH (P = 0.037), and alpha-fetoprotein (P = 0.002) concentrations in women carrying female fetuses, who were accompanied by lower total estriol concentrations (P = 0.045). Differences between groups B and A in terms of amniotic fluid analyses were only related to female fetal sex. Thus, group B showed higher hPL (P = 0.028), testosterone (P = 0.020), and FSH (P = 0.006) levels, and lower alpha-fetoprotein (P = 0.013) concentrations. It is concluded that elevated maternal serum levels of alpha-fetoprotein are accompanied in female fetuses by an endocrine milieu different from that of matched controls. This difference may put the conceptus at a disadvantage, but the majority of the girls were born on time without signs of small-for-date.