M. H. Y. Tang

Unexpected intrauterine death following resolution of hydrops fetalis after betamethasone treatment in a fetus with a large cystic adenomatoid malformation of the lung.

Without intervention, the development of hydrops fetalis secondary to cystic adenomatoid malformation of the lung (CAML) implies a 100% mortality rate. Conversely, four CAML cases with in‐utero resolution of hydrops fetalis after prenatal betamethasone therapy with good clinical outcome have been reported in the literature. The mechanism is speculated to be the effect of corticosteroid in improving lung maturation. Here we present another CAML case with resolution of hydrops fetalis after prenatal betamethasone therapy but which was followed by later intrauterine death. We speculate that the resolution of the CAML lesion itself may be more important in determining the clinical outcome than the resolution of hydrops. The association between prenatal betamethasone therapy and resolution of hydrops may be related to a different mechanism other than improvement of lung maturation. Copyright

The Clinical Impact of Chromosomal Microarray on Paediatric Care in Hong Kong

Objective To evaluate the clinical impact of chromosomal microarray (CMA) on the management of paediatric patients in Hong Kong. Methods We performed NimbleGen 135k oligonucleotide array on 327 children with intellectual disability (ID)/developmental delay (DD), autism spectrum disorders (ASD), and/or multiple congenital anomalies (MCAs) in a university-affiliated paediatric unit from January 2011 to May 2013. The medical records of patients were reviewed in September 2013, focusing on the pathogenic/likely pathogenic CMA findings and their “clinical actionability” based on established criteria. Results Thirty-seven patients were reported to have pathogenic/likely pathogenic results, while 40 had findings of unknown significance. This gives a detection rate of 11% for clinically significant (pathogenic/likely pathogenic) findings. The significant findings have prompted clinical actions in 28 out of 37 patients (75.7%), while the findings with unknown significance have led to further management recommendation in only 1 patient (p<0.001). Nineteen out of the 28 management recommendations are “evidence-based” on either practice guidelines endorsed by a professional society (nu200a=u200a9, Level 1) or peer-reviewed publications making medical management recommendation (nu200a=u200a10, Level 2). CMA results impact medical management by precipitating referral to a specialist (nu200a=u200a24); diagnostic testing (nu200a=u200a25), surveillance of complications (nu200a=u200a19), interventional procedure (nu200a=u200a7), medication (nu200a=u200a15) or lifestyle modification (nu200a=u200a12). Conclusion The application of CMA in children with ID/DD, ASD, and/or MCAs in Hong Kong results in a diagnostic yield of ∼11% for pathogenic/likely pathogenic results. Importantly the yield for clinically actionable results is 8.6%. We advocate using diagnostic yield of clinically actionable results to evaluate CMA as it provides information of both clinical validity and clinical utility. Furthermore, it incorporates evidence-based medicine into the practice of genomic medicine. The same framework can be applied to other genomic testing strategies enabled by next-generation sequencing.

Successful Outcome After Serial Amnioreductions in Triplet Fetofetal Transfusion Syndrome

BACKGROUND Triplet fetofetal transfusion is an extremely rare complication with high perinatal mortality. Its rarity does not allow any prospective randomized study on various interventional methods to be conducted. CASE We report one case of triplet fetofetal transfusion syndrome with survival of all three fetuses. Two were donor fetuses, and one was the recipient fetus. Serial amnioreductions were performed at 22, 24, and 26 weeks gestation to relieve symptomatic polyhydramnios. Premature rupture of membranes occurred at 27 weeks and cesarean delivery was performed. All three babies were discharged home by 4 months of age, and all had normal neurological development when assessed at 6 months of age. CONCLUSION The option of serial amnioreduction, with the anticipation and preparation for delivery at around 28 weeks, should be seriously considered when triplet fetofetal transfusion syndrome is encountered.

Two IUGR foetuses with maternal uniparental disomy of chromosome 6 or UPD(6)mat

Wing Cheong Leung, Wai Lam Lau, T. K. Lo, Tze Kin Lau, Y. Y. Lam, Anita Kan, Kelvin Chan, Elizabeth T. Lau and Mary H. Tang Department of Obstetrics & Gynaecology, Kwong Wah Hospital, Hong Kong Special Administrative Region, China; Department of Obstetrics & Gynaecology, Queen Mary Hospital, Hong Kong Special Administrative Region, China; Fetal Medicine Centre, Paramount Medical Centre, Hong Kong Special Administrative Region, China; Department of Paediatrics, Kwong Wah Hospital, Hong Kong Special Administrative Region, China; Department of Obstetrics & Gynaecology, The University of Hong Kong, Hong Kong Special Administrative Region, China

P327: Detection of raised cerebral blood flow and cardiomegaly in fetuses affected by Hb H disease: two case reports

We report two cases of Haemoglobin (Hb) H Quong Sze disease which presented prenatally with cardiomegaly and raised cerebral blood flow but without hydropic features. In case 1, a Chinese woman and her husband were found to be a carrier of Hb Quong Sze and β-thalassaemia-1 trait respectively on premarital check up. Chorionic villus sampling was performed in her second pregnancy and Hb H Quong Sze disease was diagnosed. She continued her pregnancy. Fetal cardiomegaly was first noticed at 18 weeks’ gestation. The cardiothoracic ratio was 0.53, 0.60, and 0.64 at 18, 22 and 27 weeks’ gestation respectively. The fetal middle cerebral artery peak systolic velocity (MCA-PSV) was increased from 35 cm/s at 22 weeks’ gestation to 52 cm/s (1.48 multiples of the median) at 27 weeks’ gestation. After birth, anemia (Hb level: 8.7 g/dl) was confirmed and the baby required blood transfusion at one month. In case 2, a Chinese woman and her husband were found to be a carrier of Hb Quong Sze and β-thalassaemia-1 trait respectively during prenatal screening for thalassaemia. Fetal cardiomegaly was first detected at 17 weeks’ gestation and the diagnosis of Hb H disease was thus suspected. The cardiothoracic ratio was 0.52, 0.54, 0.51, 0.56, and 0.58 at 17, 20, 28, 32, and 35 weeks’ gestation respectively. The fetal MCA-PSV was increased from 37 cm/s at 28 weeks’ gestation to 71 cm/s (1.62 multiples of the median) at 32 weeks’ gestation. After birth, anemia (Hb level: 9.6 g/dl) was confirmed and the baby required blood transfusion on day 1. The diagnosis of Hb H Quong Sze was confirmed on β-globin genotyping. Further studies are needed to determine the feasibility of using ultrasound examination, a noninvasive method, to predict Hb H disease before birth.

P09.02: Risk of prenatal diagnostic invasive procedures in hepatitis B surface antigen‐positive women

results from a prospective study of high-risk singleton pregnancies undergoing such a screening between 2002 and 2009 in Bulgaria. Methods: Bilateral UA Doppler analysis was performed between 18 and 24 w.g. Mean RI and PI indices were calculated. Presence of notching was also recorded. Logistic regression analysis was performed. 169 pregnant women were enrolled in the study. 37 patients developed PE and 11 of those delivered < 34 w.g. There was no difference in the mean maternal age, parity and gestational age between the groups at inclusion. The 90th centile RI had a better sensitivity for PE than the 95th centile with a FPR < 10%. Results: The high mean PI raised the relative risk /RR/ for development of PE 4.8 times (71% sensitivity and 5.3% FPR, P = 0.034). The mean RI > 90th centile was associated with a significant increase of the RR for development of PE and early PE – 3.8 and 8.5 times, respectively (95% CI 1.34–10.9). The best predictor for development of PE and PE < 34 w.g. was the combination of RI > 90th centile and the presence of bilateral notching – 65 times increased RR for development of early PE, with 81% sensitivity and 1.2% FPR (95% CI 6–699). Conclusions: UA Doppler analysis is a non-invasive screening modality for assessment of patients at risk for development of PE, in particular those requiring delivery < 34 w.g. RI and PI evaluation, combined with presence of notching, is the best predictor in identifying high-risk pregnancies.

P16.04: Three-Dimensional Extended Imaging™ : a new display modality for three-dimensional ultrasound examination: Poster abstracts

Conclusion: 1. The ability to adequately visualize the corpus callosum of the fetus with MR SSFSE imaging technique is significantly dependent on gestational age in fetuses assessed to have normal central nervous system findings. Although the corpus callosum may be recognized in as early as 24 weeks, caution is advised in suggesting agenesis (complete or partial) based on nonvisualization before 24 weeks.

P067: Examination of fetal nasal bone in the mid‐second trimester in the Chinese population—preliminary results

Obstetrics and Gynecology. A pre tested structured questionnaire was implemented to collect information of different variables of interest. Statistical Program for the social sciences (SPSS) was used for the data management. Results: Over 93.5% of the women in our population thought that ultrasound is an important investigation. They believe that it should be performed at least twice during pregnancy, although they are not sure of the timing or the exact indication of this test. 97% of women considered ultrasound to be safe. However, only 20% of women had any knowledge about Down’s syndrome or its screening. Conclusion: Pregnant women in our set-up are aware of importance of ultrasound examination during pregnancy. Based on our results we feel that there is a need to improve public awareness of problems like Down’s syndrome. Multiple strategies can be adopted to improve this knowledge.