Evaluation of contemporary olanzapine- and netupitant/palonosetron-containing antiemetic regimens for chemotherapy-induced nausea and vomiting.

INTRODUCTION: This post-hoc analysis retrospectively assessed data from two recent studies of antiemetic regimens for chemotherapy-induced nausea and vomiting (CINV). The primary objective was to compare olanzapine-based versus netupitant/palonosetron (NEPA)-based regimens in terms of controlling CINV during cycle 1 of doxorubicin/cyclophosphamide (AC) chemotherapy; secondary objectives were to assess quality of life (QOL) and emesis outcomes over four cycles of AC. METHODS: This study included 120 Chinese patients with early-stage breast cancer who were receiving AC; 60 patients received the olanzapine-based antiemetic regimen, whereas 60 patients received the NEPA-based antiemetic regimen. The olanzapine-based regimen comprised aprepitant, ondansetron, dexamethasone, and olanzapine; the NEPA-based regimen comprised NEPA and dexamethasone. Patient outcomes were compared in terms of emesis control and QOL. RESULTS: During cycle 1 of AC, the olanzapine group exhibited a higher rate of 'no use of rescue therapy' in the acute phase (olanzapine vs NEPA: 96.7% vs 85.0%, P=0.0225). No parameters differed between groups in the delayed phase. The olanzapine group had significantly higher rates of 'no use of rescue therapy' (91.7% vs 76.7%, P=0.0244) and 'no significant nausea' (91.7% vs 78.3%, P=0.0408) in the overall phase. There were no differences in QOL between groups. Multiple cycle assessment revealed that the NEPA group had higher rates of total control in the acute phase (cycles 2 and 4) and the overall phase (cycles 3 and 4). CONCLUSION: These results do not conclusively support the superiority of either regimen for patients with breast cancer who are receiving AC.

Integrating postradiotherapy plasma Epstein-Barr virus DNA and TNM stage for risk stratification of nasopharyngeal carcinoma to adjuvant therapy.

BACKGROUND: After curative radiotherapy (RT) or chemoradiation (CRT), there is no validated tool to accurately identify patients for adjuvant therapy in nasopharyngeal carcinoma (NPC). Post-RT circulating plasma Epstein-Barr virus (EBV) DNA can detect minimal residual disease and is associated with recurrence and survival independent of TNM (tumor-lymph node-metastasis) stage. We aimed to develop and validate a risk model for stratification of NPC patients after completion of RT/CRT to observation or adjuvant therapy. PATIENTS AND METHODS: The prospective multicenter 0502 EBV DNA screening cohort (Hong Kong NPC Study Group 0502 trial) enrolled from 2006 to 2015 (n = 745) was used for model development. For internal validation, we pooled independent patient cohorts from prospective clinical studies enrolled from 1997 to 2006 (n = 340). For external validation, we used retrospective cohort of NPC patients treated at Sun Yat-sen University Cancer Center from 2009 to 2012 (n = 837). Eligible patients had histologically confirmed NPC of Union for International Cancer Control (UICC) 7th Edition stage II-IVB who completed curative RT/CRT with or without neoadjuvant chemotherapy, had post-RT EBV DNA tested within 120 days after RT and received no adjuvant therapy. The primary end point was overall survival (OS). We used recursive-partitioning analysis (RPA) to classify patients into groups of low, intermediate, and high risk of death. RESULTS: Combining post-RT EBV DNA level (0, 1-49, 50-499, and ≥500 copies/ml) and TNM stage (II, III, IVAB), RPA model classified patients into low-, intermediate-, and high-risk groups with 5-year OS of 89.4%, 78.5% and 37.2%, respectively. The RPA low-risk group had comparable OS to TNM stage II (5-year OS 88.5%) but identified more patients (64.8% versus stage II 28.1%) that could potentially be spared adjuvant therapy toxicity. The RPA model (c-index 0.712) showed better risk discrimination than either the TNM stage (0.604) or post-RT EBV DNA alone (0.675) with improved calibration and consistence. These results were validated in both internal and external cohorts. CONCLUSION: Combining post-RT EBV DNA and TNM stage improved risk stratification in NPC.

Identification of fragile X pre-mutation carriers in the Chinese obstetric population using a robust FMR1 polymerase chain reaction assay: implications for screening and prenatal diagnosis.

INTRODUCTION: There is significant morbidity associated with fragile X syndrome. Unfortunately, most maternal carriers are clinically silent during their reproductive years. Because of this, many experts have put forward the notion of preconception or prenatal fragile X carrier screening for females. This study aimed to determine the prevalence of fragile X syndrome pre-mutation and asymptomatic full-mutation carriers in a Chinese pregnant population, and the distribution of cytosine-guanine-guanine (CGG) repeat numbers using a robust fragile X mental retardation 1 (FMR1) polymerase chain reaction assay. METHODS: This was a cross-sectional survey in prospectively recruited pregnant women from a university hospital in Hong Kong. Chinese pregnant women without a family history of fragile X syndrome were recruited between April 2013 and May 2015. A specific FMR1 polymerase chain reaction assay was performed on peripheral blood to determine the CGG repeat number of the FMR1 gene. Prenatal counselling was offered to full-mutation and pre-mutation carriers. RESULTS: In 2650 Chinese pregnant women, two individuals with pre-mutation alleles (0.08%, one in 1325) and one asymptomatic woman with full-mutation (0.04%, one in 2650) alleles were identified. The overall prevalence of pre-mutation and full-mutation alleles was 0.11% (1 in 883). Furthermore, 30 (1.1%) individuals with intermediate alleles were detected. In the 2617 women with normal CGG repeats, the most common CGG repeat allele was 30. CONCLUSIONS: The overall prevalence of pre-mutation and asymptomatic full-mutation carriers in the Chinese pregnant population was one in 883, detected by a new FMR1 polymerase chain reaction assay.

Non-invasive prenatal testing for trisomies 21, 18 and 13: clinical experience from 146,958 pregnancies.

OBJECTIVES: To report the clinical performance of massively parallel sequencing-based non-invasive prenatal testing (NIPT) in detecting trisomies 21, 18 and 13 in over 140,000 clinical samples and to compare its performance in low-risk and high-risk pregnancies. METHODS: Between 1 January 2012 and 31 August 2013, 147,314 NIPT requests to screen for fetal trisomies 21, 18 and 13 using low-coverage whole-genome sequencing of plasma cell-free DNA were received. The results were validated by karyotyping or follow-up of clinical outcomes. RESULTS: NIPT was performed and results obtained in 146,958 samples, for which outcome data were available in 112,669 (76.7%). Repeat blood sampling was required in 3213 cases and 145 had test failure. Aneuploidy was confirmed in 720/781 cases positive for trisomy 21, 167/218 cases positive for trisomy 18 and 22/67 cases positive for trisomy 13 on NIPT. Nine false negatives were identified, including six cases of trisomy 21 and three of trisomy 18. The overall sensitivity of NIPT was 99.17%, 98.24% and 100% for trisomies 21, 18 and 13, respectively, and specificity was 99.95%, 99.95% and 99.96% for trisomies 21, 18 and 13, respectively. There was no significant difference in test performance between the 72,382 high-risk and 40,287 low-risk subjects (sensitivity, 99.21% vs. 98.97% (P = 0.82); specificity, 99.95% vs. 99.95% (P = 0.98)). The major factors contributing to false-positive and false-negative NIPT results were maternal copy number variant and fetal/placental mosaicism, but fetal fraction had no effect. CONCLUSIONS: Using a stringent protocol, the good performance of NIPT shown by early validation studies can be maintained in large clinical samples. This technique can provide equally high sensitivity and specificity in screening for trisomy 21 in a low-risk, as compared to high-risk, population.

Randomized trial of anaesthetic interventions in external cephalic version for breech presentation.

BACKGROUND: Successful external cephalic version (ECV) for breech presenting fetus reduces the need for Caesarean section (CS). We aimed to compare the success rate of ECV with either spinal anaesthesia (SA) or i.v. analgesia using remifentanil. METHODS: In a double-phased, stratified randomized blinded controlled study we compared the success rates of ECV, performed under spinal anaesthesia (SA), i.v. analgesia (IVA) using remifentanil or no anaesthetic interventions. In phase I, 189 patients were stratified by parity before randomization to ECV, performed by blinded operators, under SA using either hyperbaric bupivacaine 9 mg with fentanyl 15 µg, i.v. remifentanil infusion 0.1 µg kg min(-1), or Control (no anaesthetic intervention). Operators performing ECV were blinded to the treatment allocation. In phase 2, patients in the Control group in whom the initial ECV failed were further randomized to receive either SA (n=9) or IVA (n=9) for a re-attempt. The primary outcome was the incidence of successful ECV. RESULTS: The success rate in Phase 1 was greatest using SA [52/63 (83%)], compared with IVA [40/63 (64%)] and Control [40/63 (64%)], (P=0.027). Median [IQR] pain scores on a visual analogue scale (range 0-100), were 0 [0-0] with SA, 35 [0-60] with IVA and 50 [30-75] in the Control group (P<0.001). Median [IQR] VAS sedation scores were highest with IVA [75 (50-80)], followed by SA, [0 (0-50)] and Control [0 (0-0)]. In phase 2, 7/9 (78%) of ECV re-attempts were successful with SA, whereas all re-attempts using IVA failed (P=0.0007). The incidence of fetal bradycardia necessitating emergency CS within 30 min, was similar among groups; 1.6% (1/63) in the SA and IVA groups and 3.2% (2/63) in the Control group. CONCLUSIONS: SA increased the success rate and reduced pain for both primary and re-attempts of ECV, whereas IVA using remifentanil infusion only reduced the pain. There was no significant increase in the incidence of fetal bradycardia or emergency CS, with ECV performed under anaesthetic interventions. Relaxation of the abdominal muscles from SA appears to underlie the improved outcomes for ECV.

Diagnostic accuracy of the BACs-on-Beads™ assay versus karyotyping for prenatal detection of chromosomal abnormalities: a retrospective consecutive case series.

OBJECTIVE: To evaluate the diagnostic performance of the BACs-on-Beads(™) (BoBs(™)) assay for prenatal detection of chromosomal abnormalities. DESIGN: Retrospective study. SETTING: Tertiary prenatal diagnosis centre. POPULATION: Women referred for prenatal diagnosis. METHODS: We retrieved 2153 archived DNA samples collected between January 2010 and August 2011 for the BoBs(™) assay. These samples had previously been tested by quantitative fluorescence polymerase chain reaction (QF-PCR) and karyotyping. In the BoBs(™) assay a sample was defined as normal disomic when the ratio of the fluorescence intensities in a chromosome locus lay within the threshold (mean ratio ± 2SD), and as deleted or duplicated when the ratio was below the lower threshold (0.6-0.8) or above the upper threshold (1.3-1.4), respectively. The BoBs(™) results were further validated by microarray and compared in a blinded manner with the original QF-PCR and karyotyping results. MAIN OUTCOME MEASURES: Concordance of any numerical, structural, and submicroscopic chromosomal abnormalities between the methods. RESULTS: BACs-on-Beads(™) was similar to karyotyping and QF-PCR in detecting trisomy 13, trisomy 18, trisomy 21, and sex chromosomal aneuploidies, and superior to QF-PCR in detecting major structural abnormalities (53.3 versus 13.3%) and mosaicism (28.6 versus 0%) involving chromosomal abnormalities other than the common aneuploidies. BoBs(™) detected six microdeletion syndromes missed by karyotyping and QF-PCR; however, BoBs(™) missed two cases of triploidy identified by QF-PCR. Therefore, the sensitivity of BoBs(™) is 96.7% (95% CI 92.6-98.7%), and its specificity is 100% (95% CI 99.8-100%). CONCLUSIONS: BACs-on-Beads(™) can replace QF-PCR for triaging in prenatal diagnosis, and gives a better diagnostic yield than current rapid aneuploidy tests.

Non-invasive prenatal testing for fetal chromosomal abnormalities by low-coverage whole-genome sequencing of maternal plasma DNA: review of 1982 consecutive cases in a single center.

OBJECTIVE: To review the performance of non-invasive prenatal testing (NIPT) by low-coverage whole-genome sequencing of maternal plasma DNA at a single center. METHODS: The NIPT result and pregnancy outcome of 1982 consecutive cases were reviewed. NIPT was based on low coverage (0.1×) whole-genome sequencing of maternal plasma DNA. All subjects were contacted for pregnancy and fetal outcome. RESULTS: Of the 1982 NIPT tests, a repeat blood sample was required in 23 (1.16%). In one case, a conclusive report could not be issued, probably because of an abnormal vanished twin fetus. NIPT was positive for common trisomies in 29 cases (23 were trisomy 21, four were trisomy 18 and two were trisomy 13); all were confirmed by prenatal karyotyping (specificity=100%). In addition, 11 cases were positive for sex-chromosomal abnormalities (SCA), and nine cases were positive for other aneuploidies or deletion/duplication. Fourteen of these 20 subjects agreed to undergo further investigations, and the abnormality was found to be of fetal origin in seven, confined placental mosaicism (CPM) in four, of maternal origin in two and not confirmed in one. Overall, 85.7% of the NIPT-suspected SCA were of fetal origin, and 66.7% of the other abnormalities were caused by CPM. Two of the six cases suspected or confirmed to have CPM were complicated by early-onset growth restriction requiring delivery before 34 weeks. Fetal outcome of the NIPT-negative cases was ascertained in 1645 (85.15%). Three chromosomal abnormalities were not detected by NIPT, including one case each of a balanced translocation, unbalanced translocation and triploidy. There were no known false negatives involving the common trisomies (sensitivity=100%). CONCLUSIONS: Low-coverage whole-genome sequencing of maternal plasma DNA was highly accurate in detecting common trisomies. It also enabled the detection of other aneuploidies and structural chromosomal abnormalities with high positive predictive value.

Relationship between age and prevalence of hepatitis B infection in first-year university students in Hong Kong.

PURPOSE: To determine the effect of age on the prevalence of hepatitis B virus (HBV) infection during a routine screening programme of first-year students enrolled in Health Sciences Studies at the Chinese University of Hong Kong from 2001 to 2009. METHODS: In a retrospective cohort study, data on the hepatitis B surface antigen (HBsAg) status was retrieved from the University Health Service and analysed according to the age of the student at testing and year of birth. RESULTS: Of the 2,688 students enrolled in the study group, 79 (2.9 %) tested positive for HBsAg. The prevalence increased significantly from 0.9, 2.3, 4.3 to 5.5 % for those tested at age ≤ 18, 19, 20 and ≥ 21 years, respectively (p < 0.001). On logistic regression analysis, taking age ≤ 18 years and year of birth before 1983 (before the availability of HBV vaccination) as the reference group, HBV infection increased progressively with age, with an adjusted odds ratio of 3.36 [95 % confidence interval (CI) 1.01-11.23], 6.04 (95 % CI 1.74-20.98) and 11.61 (95 % CI 3.20-42.13) for age 19, 20 and ≥ 21 years, respectively. There was no significant change in the odds ratio after adjustment for the year of birth before and after introduction of the vaccination programme. CONCLUSION: Among the university students enrolled in our study, the overall prevalence of HBV infection before and after the introduction of HBV vaccination was lower than the 10 % found in the general population. There was, however, a significant progressive increase with age at testing from ≤ 18 to ≥ 21 years, suggesting a previously overlooked contribution of horizontal transmission to the high prevalence of HBV infection found in our adult population.

Spontaneous carotid cavernous fistula complicating pregnancy.

Carotid cavernous fistula is a well-documented but rare condition in pregnancy, about which there are a limited number of reports in the literature. We report such a case in a 41-year-old woman presenting with right-sided headache, proptosis, and diplopia at 37 weeks of gestation. She was subsequently diagnosed to have carotid cavernous fistula based on angiography. Embolisation was performed in the postpartum period. Carotid cavernous fistula has the potential of serious morbidity including visual loss and intracranial haemorrhage. It can be treated effectively by endovascular embolisation, which confers a good prognosis. Although headache is a common complaint during pregnancy, obstetrician should be aware of this condition if the clinical presentation is suspicious.

Effect of image settings on nuchal translucency thickness measurement by a semi-automated system.

OBJECTIVE: To investigate whether pre- and post-processing image settings affect NT measurements made by a semi-automatic method (SAM). METHODS: Different image settings (e.g. gain) were either adjusted one at a time on images that had been obtained during fetal NT scans (post-processing, n = 66), or adjusted one at a time during live scanning and image acquisition of the adult posterior tibial artery (pre-processing group, n = 91). The NT and luminal diameter of the posterior tibial artery, respectively, were measured by SAM on all original and adjusted images. RESULTS: Alteration of the image settings resulted in a statistically significant effect on the measurements taken by SAM, with an average pair difference ranging from 0.001 mm to 0.139 mm. Most of the differences were small and therefore the clinical impact would be negligible. The pair differences were greatest with a very high contrast setting, or without tissue harmonic imaging (THI); the paired difference in measurement in those with vs those without THI was more than 0.1 mm in over 40% of cases. CONCLUSIONS: Measurements made by SAM are affected by image settings.

A novel way of visualizing the ductal and aortic arches by real-time three-dimensional ultrasound with live xPlane imaging.

OBJECTIVE: To describe a novel method of visualizing the ductal and aortic arches by real-time three-dimensional echocardiography with live xPlane imaging. METHODS: Live xPlane imaging was used to display the ductal- and aortic-arch views in 107 women with singleton pregnancies, including seven cases with suspected congenital heart defects (CHDs). The three vessels and trachea (3VT) view was obtained in such an orientation that either the pulmonary artery or the aorta was parallel to the direction of the ultrasound beam. The xPlane reference line was then placed across the targeted vessel, which in a normal case would provide an image of the corresponding arch view as a dual-image display. RESULTS: Once the 3VT view had been obtained, live xPlane imaging showed the aortic and ductal arches in all 100 normal cases. In seven cases with suspected CHD, the 3VT view was abnormal in five cases and normal in the other two. However, the ductal-arch view demonstrated by live xPlane imaging was abnormal in five cases of conotruncal anomalies and normal in two cases in which conotruncal anomalies were excluded. CHDs were confirmed at autopsy following termination of pregnancy in five cases and on postnatal echocardiography in one case. The heart was found postnatally to be normal in one case of suspected CHD; in this case live xPlane imaging showed that the observed abnormal 3VT view was caused by a tortuous course of the thoracic aorta associated with an abnormal diaphragm. CONCLUSION: Live xPlane imaging is a novel and relatively simple method of visualizing the ductal- and aortic-arch views, and may potentially be a useful tool in the screening of fetal conotruncal and aortic-arch anomalies.

Intrapleural injection of OK-432 as the primary in-utero treatment for fetal chylothorax.

Chylothorax is a rare congenital condition associated with significant perinatal mortality and morbidity. Previous treatments with repeated thoracocentesis or thoracoamniotic shunting were technically demanding, and associated with significant procedure-related complications and neonatal complications. Here we report the first successful case in Hong Kong treated by a simple and effective intervention, namely pleurodesis with OK-432, in a fetus presenting at 20 weeks of gestation with bilateral pleural effusion.

Correlation between maternal hepatitis B surface antigen carrier status with social, medical and family factors in an endemic area: have we overlooked something?

PURPOSE: Hepatitis B virus (HBV) infection is endemic in many countries, but the risk factors for HBV carriage in the obstetric population are unclear. METHODS: A survey on 1,580 women attending the antenatal clinic in an endemic region was conducted in order to examine the prevalence of and factors associated with maternal HBV carriage, including socio-demographic, medical, and previous obstetrical and family history, by means of a questionnaire. RESULTS: The prevalence of maternal HBV carriage was 9.1%, and 4.8% of women with a history of hepatitis B vaccination were found to be HBV carriers. Factors associated with maternal HBV carriage were residency status (adjusted odds ratio [aOR] 3.65 for immigrants; aOR 7.62 for non-residents), positive family history (aOR 3.72 for infected mother; aOR 5.36 for other family members), no previous vaccination (aOR 4.39) and having previous HBsAg testing (aOR 2.26). CONCLUSIONS: The findings suggest that there was probably an overlooked role of horizontal transmission within the family setting in addition to perinatal transmission in determining the likelihood of HBV infection in our obstetric population. Reconfirmation of hepatitis B status might be necessary among individuals with a history of vaccination to ensure the effectiveness of their immunoprotection.

Head-to-body delivery interval and risk of fetal acidosis and hypoxic ischaemic encephalopathy in shoulder dystocia: a retrospective review.

OBJECTIVE: To examine the association between head-to-body delivery interval (HBDI) and cord arterial pH and base excess (BE), and the risk of development of hypoxic ischaemic encephalopathy (HIE). DESIGN: Retrospective review. SETTING: A university hospital. POPULATION: Pregnancies complicated with shoulder dystocia during the period 1995-2009. METHODS: Cases were identified from a search of the hospital electronic delivery records. Cord arterial pH and BE, and the incidence of HIE and perinatal death, were retrieved from medical records and correlated with HBDI, birth weight, mode of delivery and presence of nonreassuring fetal heart rate pattern and maternal diabetes using univariate analysis, followed by multivariate analysis. MAIN OUTCOME MEASURES: Any association between cord pH and HBDI. RESULTS: Of the 200 cases identified, the mean (standard deviation) HBDI was 2.5 minutes (1.5 minutes). Both HBDI and the presence of nonreassuring fetal heart rate pattern were independent factors for pH, and HBDI was the only significant factor for BE. Arterial pH dropped at a rate of 0.011 per minute [95% confidence interval (95% CI), 0.017-0.004; P = 0.002] with HBDI. The mode of delivery, birth weight and maternal diabetes did not affect blood gas levels. The respective risks of severe acidosis (pH < 7) and HIE with HBDI of <5 minutes were 0.5% and 0.5% versus 5.9% and 23.5% with HBDI ≥ 5 minutes. CONCLUSIONS: Cord arterial pH drops with HBDI during shoulder dystocia, but the risk of acidosis or HIE is very low with HBDI < 5 minutes.

Comparison of perinatal outcomes of shoulder dystocia alleviated by different type and sequence of manoeuvres: a retrospective review.

OBJECTIVE: To evaluate the different types and sequences of manoeuvres to overcome shoulder dystocia and the rates of associated fetal injury. DESIGN: Retrospective review. SETTING: A university hospital. POPULATION: Pregnancies complicated with shoulder dystocia from 1995 to 2009. METHODS: Cases were identified from the hospital electronic delivery records. MAIN OUTCOME MEASURES: The success rate between McRoberts' manoeuvre, rotational methods and posterior arm delivery, and the incidences of brachial plexus injury (BPI), clavicular fracture (CF) and humeral fracture (HF) according to the types and sequences of manoeuvres applied to overcome shoulder dystocia. RESULTS: Among 205 cases identified, McRoberts' manoeuvre was successful initially in 25% of cases, of which 7.8% suffered from BPI and 3.9% suffered from CF, but none had HF. In the failed cases, subsequent rotational methods and posterior arm delivery were similarly successful (72.0 versus 63.6%), whereas the former was associated with less BPI (4.4 versus 21.4%) and HF (1.1 versus 7.1%) despite similar risk of CF (5.6 versus 7.1%). The rotational methods were not associated with a higher fetal injury risk compared with McRoberts' manoeuvre. The remaining cases were managed by applying the third yet untried manoeuvre, and posterior arm delivery and rotational methods had similar success (77.1 versus 62.5%). The cumulative success rates after the second and the third manoeuvres were 79.0 and 94.6%, respectively. CONCLUSION: Following the failure of McRoberts' manoeuvre, subsequent application of rotational methods and posterior arm delivery have similarly high success rates but the former may be associated with less fetal injury.

Identification of submicroscopic chromosomal aberrations in fetuses with increased nuchal translucency and apparently normal karyotype.

OBJECTIVE: Fetal nuchal translucency (NT) is assessed by ultrasonography as a screening tool for aneuploidy at 11 to 13 + 6 weeks' gestation. Fetuses with increased NT but apparently normal karyotype are still at higher risk of structural abnormality and a range of genetic syndromes, which may be related to major and submicroscopic chromosomal abnormalities. The aim of this study was to report the prevalence of submicroscopic chromosomal abnormalities in a cohort of apparently euploid fetuses that presented with increased NT. METHODS: DNA was extracted from stored chorionic villus samples from fetuses found to have increased NT (> 3.5 mm) during first-trimester screening. These samples were examined by microarray-based comparative genomic hybridization (aCGH) using a 44K oligonucleotide array specifically constructed for prenatal screening. Variations in copy number (CNVs) were reported after excluding known non-pathogenic variants and after validation with multiplex ligation-dependent probe amplification (MLPA) or real-time quantitative polymerase chain reaction (qPCR). The prevalence of pathogenic CNVs is reported and the association with NT and other ultrasound findings described. RESULTS: CNVs were reported in 6/48 (12.5%) cases by aCGH and the microdeletions or microduplications ranged from 1.1 to 7.9 Mb. Five of these were validated by MLPA/real-time qPCR and four (8.3%) were considered to be pathogenic and clinically significant. The incidence of pathogenic CNVs was 20.0% (2/10) among those cases with other sonographic anomalies and 5.3% (2/38) among those without. CONCLUSION: aCGH allows detection of submicroscopic chromosomal abnormalities, the prevalence of which may be increased in fetuses with NT > 3.5 mm and an apparently normal karyotype.

Chronic hepatitis B virus infection and rubella susceptibility in pregnant women.

Increased rubella susceptibility has been shown in subjects from the Asian-Pacific region where chronic hepatitis B virus (HBV) infection is endemic. This study was performed to explore the relationship between chronic HBV infection and rubella susceptibility in the obstetric population. We conducted a retrospective cohort study on 50556 pregnant women delivered in a university obstetric unit from January 1998 to June 2008. The incidence of rubella susceptibility according to maternal HBV carrier status was examined. HBV infection and rubella susceptibility were found in 5105 (10.1%) and 6102 (12.1%) women, respectively. Rubella susceptibility was more common in women with HBV (13.1%vs 12.0%, P = 0.017), even after adjusting for other confounding factors (odds ratio 1.11, 95% confidence interval 1.01-1.21). Advancing age was associated with progressively decreasing odds of rubella susceptibility, from 0.48 at age 20-24 years to 0.34 at age ≥ 40 years in women without HBV infection, but had no effect in women with hepatitis B. In conclusion, our study is the first to demonstrate an association between chronic HBV infection with rubella susceptibility. Further studies are warranted to confirm whether chronic HBV infection, especially that acquired by vertical transmission, may impair the immune response to rubella vaccine or natural infection throughout the reproductive age.