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The increasing popularity and expansion of non-invasive prenatal testing (NIPT) to screen for rare conditions beyond common trisomies prompts evaluation of pre-test counselling currently offered. We conducted a prospective survey to assess women's knowledge of NIPT in those who had undergone NIPT (study group) and those who were planning to have NIPT (control group). Out of the 189 questionnaires analysed, the study group did not show a higher knowledge score compared to the control group (P = 0.097). 44% misunderstood that NIPT can identify more conditions than invasive testing, 69.8% were unaware of the recommended need for nuchal translucency measurement and 52.6% were unaware of the possibility of incidental findings. 31% even considered discussing termination of pregnancy as one of the next steps if NIPT shows high risk for Down syndrome. This study shows that current pre-test counselling is inadequate. Service providers should address these knowledge gaps and assist women to make informed choices. What is already known on this subject? Pre-test counselling for non-invasive prenatal testing (NIPT) should be conducted to assist women in making an informed consent. What do the results of this study add? Our results show that a significant proportion of women are unaware of the limitations of NIPT. What are the implications of these findings for clinical practice and/or further research? Service providers should improve their pre-test counselling focusing on areas of knowledge deficiencies and misunderstanding on NIPT identified in this study. [ABSTRACT FROM AUTHOR]

Iron deficiency anemia is an important problem among pregnant women, and intravenous (IV) iron infusions have been increasingly used. Whether fetal monitoring is required during infusion has been debated, with a recent guideline by Hematologists recommending against such. We report two cases of fetal bradycardia after iron isomaltoside (IIM), in women with otherwise good maternal and fetal health. Both developed dyspnea with desaturation minutes from infusion, followed by persistent fetal bradycardia. Both underwent category 1 CS, with cord arterial pH of 7.08 and 6.94 respectively. Upon literature review, only three case reports on fetal bradycardia in IV iron were identified. For older IV iron formulations, a case was reported after IV dextran test dose, while two cases after ferric gluconate were reported. For the new formulation IIM, only one case was reported so far, but in a woman with Crohn's disease and intrauterine growth restriction. IV iron in pregnancy carries risk of anaphylactic or hypersensitivity reactions, even with the newest formulations and in women with good maternal and fetal health. While rarely reported so far, fetal bradycardia is a possible consequence, commonly preceded by respiratory symptoms. Fetal monitoring should therefore be considered during infusion. [ABSTRACT FROM AUTHOR]

Objective. To describe the methodology of live xPlane imaging in the visualization of the fetal heart in detail. Methods. Fifty-one consecutive pregnant women with singleton pregnancies were imaged to display four screening sections of the fetal heart, the four-chamber view, the left outflow tract view (LVOT), the right outflow tract view (RVOT), and the three-vessel and trachea view (3VT), using live xPlane imaging. The methodology of how to visualize the screening planes was described in detail. We used two methods to image the fetal heart with live xPlane imaging: one uses the four-chamber view as the starting plane and the other uses the longitudinal view of fetal upper thorax as the starting plane. Results. When using the four-chamber view as the starting plane, the visualization rate of LVOT, RVOT, and 3VT was 94.1%% (48/51), 100%% (51/51), and 98.0%% (50/51), respectively. When using the longitudinal view as the starting plane, the visualization rate of four-chamber view, LVOT, RVOT, and 3VT was 100%% (51/51), 100%% (51/51), 41.2%% (21/51), and 100%% (51/51), respectively. Conclusions. Live xPlane imaging can be used to visualize the screening views of the fetal heart, and potentially may be a useful tool for the assessment and diagnosis of fetal congenital heart diseases. [ABSTRACT FROM AUTHOR]

A retrospective audit identified 10 cases of massive idiopathic subchorionic thrombohematoma. The incidence was 1:3,133. Only six of these pregnancies resulted in a livebirth and only two reached term. In eight cases there were ultrasound abnormalities, including two cases of placentomegaly both of which resulted in a pregnancy loss. There was one placental abruption. Seven of the women were nulliparous. Massive subchorionic thrombohematoma is associated with poor pregnancy outcome. Ultrasound findings of placentomegaly might be a bad prognostic sign. [ABSTRACT FROM AUTHOR]

Objective: To determine the performance of trained midwives in second trimester ultrasound screening for fetal structural abnormalities in a low-risk population. Design: Retrospective study. Setting: University Department of Obstetrics and Gynecology. Population: About 13,882 women with singleton pregnancies. Methods: The findings of routine second trimester anomaly scan performed by midwives were reviewed. Reasons for referral to maternal fetal medicine (MFM) specialists for further assessment were analyzed. Main Outcome Measures: The detection, false positive and false alarm rates for fetal anomalies. Results: One hundred and eighty-nine pregnancies with unknown outcome were excluded from the final analysis. Overall, 617 (4.51%) women were referred to MFM specialists for further assessment, of which 470 (70.2%) were for soft markers alone and 147 (23.8%) for suspected fetal structural abnormalities. In these 13,693 fetuses with known outcome, malformed fetuses were present in 185, a prevalence of 1.35%. Of these, 115 were detected during the second trimester scan and two were detected in the third trimester. The remaining 68 malformed fetuses, most of which had minor anomalies, were identified after birth. The detection rate for a malformed fetus in second trimester scan was 62.2% (115/185) (95% CI 55.2-69.2). There were four cases of false positives and 33 cases of false alarm. Conclusions: Experienced midwives with proper training can detect the majority of major structural abnormalities. Continuous audit and quality control plays a significant role in optimizing the fetal structural examination. [ABSTRACT FROM AUTHOR]

Objective: To construct fetal limb bone nomograms in the Chinese ethnic population., Methods: This was a prospective cross-sectional study on singleton pregnancies between 12 and 37 weeks of gestation. Femur, tibia, fibula, humerus, ulna, radius, and foot length were measured in a standardized manner by one of the three sonographers. Each fetus's measurements were only included once and those who developed maternal or fetal complications were excluded. Fractional polynomial regression model was used to obtain the 3rd, 10th, 50th, 90th, and 97th centiles for each of the limb measurement. Z -score for the 50th centile of each fetal limb measurement was then compared with published nomograms derived from other populations., Results: Of the 843 scans performed, 775 were included in analysis after excluding conditions such as pre-eclampsia, chromosomal abnormalities, single umbilical artery and skeletal dysplasia. Comparison with other populations showed that Chinese had shorter fetal limb bone lengths than the Caucasian and Afro-Caribbean populations., Conclusion: This study established nomograms for all the fetal limb bones in the Chinese ethnic population, which showed lengths comparatively shorter than Caucasian and Afro-Caribbean nomograms. This would reduce the false alarm of short fetal limb bone lengths and its consequent anxiety and intervention.

Objective: To assess the effect of storage time on the stability of placental growth factor (PlGF) and fms-like tyrosine kinase 1 (sFlt-1) levels in frozen serum samples from pregnant women., Methods: This is a matched case-control study using fresh and stored serum samples collected at 6, 12, 18, 24, 30 and 36 months prior to the collection of the fresh samples and frozen at -80°C. Forty-eight samples from each of the seven time-groups were matched for non-smoking Chinese, maternal weight, singleton-term pregnancy without major obstetric complications and extracted for PlGF and sFlt-1 assays. Multivariate analysis was performed to assess residual effects of the case-matching procedure. ANOVA was used to assess the effects of storage time., Results: Multivariate analysis of the 336 samples indicated that log(10)PlGF was positively correlated with parity (p=0.014) and gestational age (p=0.029), while log(10)sFlt-1 was inversely correlated with parity (p=0.018). After correcting for the residual effect of gestation and parity, ANOVA showed no significant difference in PlGF and sFlt-1 levels between the fresh samples and all stored samples (p=0.410 and p=0.158, respectively)., Conclusions: Serum PlGF and sFlt-1 levels are stable for at least 3 years when stored at -80°C. Parity is an independent factor of PlGF and sFlt-1 levels. PlGF levels are lower and sFlt-1 levels are higher in nulliparous women compared to multiparous.

Objective: We investigated the application of microarray-based comparative genomic hybridization (array CGH) on a fetus showing hemivertebrae and intra-abdominal mass at 15 weeks., Methods: Conventional karyotyping and high-resolution array CGH techniques using 244K CGH microarray were performed to investigate the possibility of genomic imbalance on the opted chorionic villus sample., Results: G-banded fetal chromosome analysis showed 46,XY,der(6)t(6;7)(q26;q31.2)pat. Whole genome scan by array CGH fine mapped the origin of the aberrant chromosomes to be a partial single copy gain of 42.5 Mb from chromosome region 7:116266547 --> qter and concurrent partial single copy loss of 8.1 Mb from chromosome region 6:162756975 --> qter. Pathological examination of the abortus showed gastrointestinal malformations, hemivertebrae with scoliosis, clinodactyly and club feet., Conclusions: Prenatal and perinatal findings of concurrent trisomy 7q and monosomy 6q were unique. This study demonstrated array CGH can interrogate the entire genome at a resolution and rapidity unattainable by conventional cytogenetic techniques and may have wide application in prenatal diagnosis.

Background: The true risk of chronic villus sampling (CVS) is poorly defined. The objective of this study was to review the clinical outcome of transabdominal CVS performed in a university teaching unit, with an emphasis on the complication rate., Methods: A comprehensive audit database was maintained for 1,351 pregnant women, including 17 sets of twin pregnancies, who had a CVS. Details and outcome of all CVSs made in the unit between May 1996 and May 2004 were reviewed. All CVSs were performed by one of 5 operators using the identical techniques., Results: All procedures were performed transabdominally. A total of 1,355 CVSs were performed because there were 4 dichorionic twin pregnancies which required 2 punctures. The mean gestation at CVS was (11.8 +/- 0.7) weeks, and 97.3% of the procedures were performed between 11 and 13 completed weeks. The majority (96.2%) required only 1 puncture to achieve correct needle placement. The procedure failed to obtain an adequate sample in 4 subjects (0.30%). A total of 1,351 chromosomal studies were requested and there was 1 case (0.07%) of culture failure. The results of chromosomal studies were available within 14 days in 36.7% of the cases and within 21 days in 94.0%. Overall, 77 chromosomal abnormalities (5.7%) and 5 cases of thalassemia major were detected. Pregnancy outcome was unknown in only 13 singleton subjects (0.96%). In the remaining 1,355 fetuses, there were 76 pregnancy terminations (5.56%), 10 fetal losses with obvious obstetric causes (0.73%), and 21 potentially procedure-related fetal losses (1.54%). In the last group, the majority had one or more co-existing obstetric complications. The background fetal loss rate for pregnancies at similar gestational age in the unit was about 0.8%. Therefore, the procedure-related fetal loss rate was estimated to be at the maximum of 0.74%., Conclusions: In experienced hands, first trimester transabdominal CVS is an accurate and safe invasive prenatal diagnostic procedure. It should be one of the treatment options available to pregnant women who require prenatal genetic diagnosis.