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Aim: This study reviewed the experience of a tertiary paediatric surgery and obstetric centre on prenatal counselling of congenital surgical anomalies and to explore the role of paediatric surgeons on perinatal outcomes of antenatally detected anomalies. Methods: A retrospective analysis of all antenatal consultations and subsequent medical records after birth were performed between 2009 and 2018. Data including timing of consultations, gestations at birth, birthweight, impact on obstetrics management, neonatal mortality and need of surgery were included. Results: A total of 256 fetuses were diagnosed to have congenital surgical anomalies on antenatal ultrasound. The most common were urogenital (31%) and thoracic (30%) anomalies. Twelve of the 256 (4.7%) had multiple anomalies. The mean gestation at referral was 23 ± 5 weeks. The majority (85.4%) were born at term. Mode and timing of delivery was altered in 7% of patients. Four received fetal intervention after surgical consultation. Termination of pregnancy rate was 5.4% (n = 14). Neonatal death was reported in 7.8% of the cohort. Conclusion: Congenital surgical anomalies had a significant impact on perinatal outcome as well as morbidity in later infancy and childhood. A multidisciplinary approach in managing pregnancy with these anomalies should be implemented. Combined‐specialty consultations and counselling deliver valuable information for parents. [ABSTRACT FROM AUTHOR]

Abstract: A complete hydatidiform mole (CHM) coexisting with a viable fetus is a rare finding in pregnancies. Accurate diagnosis often relies on ultrasonographic, histopathological and molecular techniques in the definite diagnosis. To the best of our knowledge, a liveborn fetus coexisting with CHM with trisomy 9 has not been described. The use of molecular genotyping and immunohistochemical laboratory investigations enabled the CHM to be fully characterized. Postzygotic diploidization of a triploid conception arising from dispermy is the proposed mechanism of its formation. [ABSTRACT FROM AUTHOR]

Aim: The aim of this study was to assess the miscarriage and fetal loss rates of twin pregnancies after amniocentesis. Material and Methods: The outcome of 140 twin pregnancies that had amniocentesis performed from 1997 to 2006 was reviewed. Results: Among 140 twin pregnancies with amniocentesis, 35 were excluded (fetuses with structural anomalies, post-selective feticide, abnormal fetal karyotype, twin-twin transfusion syndrome [TTTS], termination of pregnancy, and unknown outcome). For the remaining 105 twin pregnancies, 102 had live births of all fetuses. One dichorionic twin had silent miscarriage of one fetus at 23 weeks. Another dichorionic twin had intrauterine death of one fetus at unknown gestation. One patient had preterm delivery at 32 weeks with neonatal death of one twin due to severe intrauterine growth restriction. The miscarriage rate (one or both fetuses) for twins before 24 weeks was 0.96% (1/105), the pregnancy loss (one or both fetuses) within 4 weeks of amniocentesis was 0.96% (1/105). The total fetal loss rate was 0.96% (2/210) for twins. Conclusion: Our cohort showed a low fetal loss rate after amniocentesis for uncomplicated twin pregnancies. [ABSTRACT FROM AUTHOR]

This prospective study assessed the role and compared two techniques of paracervical block (PCB) for pain relief during suction evacuation for first-trimester termination of pregnancy following cervical priming with misoprostol. One-hundred and thirty-five women undergoing suction evacuation up to 12 weeks of gestation were randomized into three groups: (a) 5 mL of 1% lignocaine injected at the 4 and 8 o''clock positions of the vaginal vault; (b) 5 mL of 1% lignocaine injected at the 4 and 8 o''clock positions of the cervix and (c) no PCB. Pain scores during PCB, cervical dilatation and during and after suction evacuation were compared among the three groups. The sedation and satisfaction levels were also compared. There were no statistically significant differences in the pain levels during PCB, cervical dilatation and suction evacuation and in the satisfaction levels among the three groups. Patients with a lighter sedation level experienced more pain. In conclusion, PCB did not improve the pain levels during first-trimester suction termination of pregnancy after cervical priming with misoprostol and use of intravenous sedation, regardless of whether the local anaesthetic was injected into the cervix or the vaginal vault. [Copyright &y& Elsevier]

In this first Asian study, the decision outcomes (decision conflict, decision regret, and anxiety) of 262 pregnant women offered noninvasive prenatal test (NIPT) for high-risk Down screening results were assessed. Decision conflict was experienced by 3.5% and level of decisional regret low (mean score 15.7, 95%CI 13.2-18.3). All 13 cases of decisional regret were NIPT acceptors. Elevated anxiety was experienced by 55.9% at the time of decision making about NIPT and persistent in 30.3%. Insufficient knowledge about NIPT was associated with elevated anxiety at decision making (p = .011) and with decisional regret (p = .016). Decisional regret was associated with prolonged anxiety (p = .010). [ABSTRACT FROM AUTHOR]

In this first Asian study, the decision outcomes (decision conflict, decision regret, and anxiety) of 262 pregnant women offered noninvasive prenatal test (NIPT) for high-risk Down screening results were assessed. Decision conflict was experienced by 3.5% and level of decisional regret low (mean score 15.7, 95%CI 13.2-18.3). All 13 cases of decisional regret were NIPT acceptors. Elevated anxiety was experienced by 55.9% at the time of decision making about NIPT and persistent in 30.3%. Insufficient knowledge about NIPT was associated with elevated anxiety at decision making (p = .011) and with decisional regret (p = .016). Decisional regret was associated with prolonged anxiety (p = .010). [ABSTRACT FROM AUTHOR]

Among patients with pregnancies considered at‐risk for Down syndrome undergoing non‐invasive prenatal testing, preferring extended reports was associated with greater education and knowledge of testing. [ABSTRACT FROM AUTHOR]

With the advancements in prenatal diagnostics, genome sequencing is now incorporated into clinical use to maximize the diagnostic yield following uninformative conventional tests (karyotype and chromosomal microarray analysis). Hong Kong started publicly funded prenatal genomic sequencing as a sequential test in the investigation of fetal structural anomalies in April 2021. The objective of the study was to evaluate the clinical performance and usefulness of this new service over one year. We established a web-based multidisciplinary team to facilitate case selection among the expert members. We retrospectively analyzed the fetal phenotypes, test results, turnaround time and clinical impact in the first 15 whole exome sequencing and 14 whole genome sequencing. Overall, the molecular diagnostic rate was 37.9% (11/29). De novo autosomal dominant disorders accounted for 72.7% (8/11), inherited autosomal recessive disorders for 18.2% (2/11), and inherited X-linked disorders for 9.1% (1/11). The median turnaround time for ongoing pregnancy was 19.5 days (range, 13–31 days). Our study showed an overall clinical impact of 55.2% (16/29), which influenced reproductive decision-making in four cases, guided perinatal management in two cases and helped future family planning in ten cases. In conclusion, our findings support the important role of genome sequencing services in the prenatal diagnosis of fetal structural anomalies in a population setting. It is important to adopt a multidisciplinary team approach to support the comprehensive genetic service. [ABSTRACT FROM AUTHOR]

Only two families have been reported with biallelic TMEM260 variants segregating with structural heart defects and renal anomalies syndrome (SHDRA). With a combination of genome, exome sequencing and RNA studies, we identified eight individuals from five families with biallelic TMEM260 variants. Variants included one multi‐exon deletion, four nonsense/frameshifts, two splicing changes and one missense change. Together with the published cases, analysis of clinical data revealed ventricular septal defects (12/12), mostly secondary to truncus arteriosus (10/12), elevated creatinine levels (6/12), horse‐shoe kidneys (1/12) and renal cysts (1/12) in patients. Three pregnancies were terminated on detection of severe congenital anomalies. Six patients died between the ages of 6 weeks and 5 years. Using a range of stringencies, carrier frequency for SHDRA was estimated at 0.0007–0.007 across ancestries. In conclusion, this study confirms the genetic basis of SHDRA, expands its known mutational spectrum and clarifies its clinical features. We demonstrate that SHDRA is a severe condition associated with substantial mortality in early childhood and characterised by congenital cardiac malformations with a variable renal phenotype. [ABSTRACT FROM AUTHOR]

Microcephaly and microphthalmia are both rare congenital abnormalities, while concurrently, these two are even rarer. The underlying etiology would be complex interplaying between heterogeneous genetic background and the environmental pathogens, particularly during critical periods of early tissue development. Here, we reported a prenatal case with microcephaly, microphthalmia, and bilateral cataracts detected by ultrasonography and confirmed by autopsy. Various routine infection-related tests and invasive genetic testing were negative. Whole genome sequencing of fetus and parents revealed OCLN gene defects may be associated with these multiple congenital abnormalities. [ABSTRACT FROM AUTHOR]

The article focuses on the outcomes of women choosing extended non-invasive prenatal testing (NIPT). Topics discussed include women from five public hospitals across Hong Kong aged 18 year carrying a singleton pregnancy found to be at increased risk of Down's syndrome; mentions a conventional screening combined a first-trimester maternal biochemistry with a foetal nuchal translucency; and also mentions eligible women opting for NIPT chose one type of report and filled in a questionnaire.

The article presents a case study of a 34-year-old woman with a threatened miscarriage. It mentions a transvaginal ultrasound examination confirmed the presence of a T-shaped IUD in the upper uterine cavity alongside a viable intrauterine pregnancy; and also mentions an autopsy showed a structurally normal foetus with a congenital fungal pneumonia.

Mosaic variegated aneuploidy (MVA) is a rare genetic disorder caused by mutations in BUB1B, CEP57, or TRIP13. We describe the prenatal diagnosis, molecular characterization, and clinical management of a long‐lived patient with BUB1B‐related MVA. [ABSTRACT FROM AUTHOR]

Background: Beckwith–Wiedemann syndrome (BWS) is an overgrowth syndrome with variable clinical phenotype and complex molecular aetiology. It is mainly caused by dysregulation of the chromosome 11p15 imprinted region, which results in overgrowth in multiple tissues, often in a mosaic manner. Case presentation: A large-for-gestational-age infant without any other somatic features of BWS presented with medically refractory hyperinsulinism (HI) requiring 80% pancreatectomy. Next generation sequencing with congenital HI sequencing panel identified a pathogenic ABCC8:c.1792C > T (p.Arg598Ter) variant of paternal origin, suggestive of focal HI. However, pancreatic histology revealed atypical findings of coalescing nests and trabeculae of adenomatosis scattered with islets with isolated enlarged, hyperchromatic nuclei scattered throughout the pancreas. Methylation analysis, SNP-based chromosomal microarray and short tandem repeat markers analysis revealed mosaic segmental paternal uniparental disomy (UPD) 11p15.5-p15.1 in the pancreatic tissue, but not the peripheral blood, suggestive of BWS/BW-spectrum HI. Conclusions: This case highlights the importance of integrating the clinical presentation and subsequent clinical course, together with radiological, genetic and histological findings in the definitive diagnosis of this rare yet clinically important entity. In addition, this is the first report that demonstrated the level of paternal inherited c.1792 T pathogenic variant in the pancreatic tissue being directly correlated to the mosaic level of pUPD. [ABSTRACT FROM AUTHOR]

Background: Chromosomal microarray (CMA) has been shown to be cost-effective over karyotyping in invasive prenatal diagnosis for pregnancies with fetal ultrasound anomalies. Yet, information regarding preceding and subsequent tests must be considered as a whole before the true cost-effectiveness can emerge. Currently in Hong Kong, karyotyping is offered free as the standard prenatal test while genome-wide array comparative genome hybridization (aCGH), a form of CMA, is self-financed. A new algorithm was proposed to use aCGH following quantitative fluorescent polymerase chain reaction (QF-PCR) as primary test instead of karyotyping. This study aims to evaluate the cost-effectiveness of the proposed algorithm versus the current algorithm for prenatal diagnosis in Hong Kong.Methods: Between November 2014 and February 2016, 129 pregnant women who required invasive prenatal diagnosis at two public hospitals in Hong Kong were prospectively recruited. The proposed algorithm was performed for all participants in this demonstration study. For the cost-effectiveness analysis, cost and outcome (diagnostic rate) data were compared with that of a hypothetical scenario representing the current algorithm. Further analysis was performed to incorporate women's willingness-to-pay for the aCGH test. Impact of government subsidies on the aCGH test was explored as a sensitivity analysis.Results: The proposed algorithm dominated the current algorithm for prenatal diagnosis. Both algorithms were equally effective but the proposed algorithm was significantly cheaper (p ≤ 0.05). Taking into account women's willingness-to-pay for an aCGH test, the proposed algorithm was more effective and less costly than the current algorithm. When the government subsidy reaches 100%, the maximum number of diagnoses could be made.Conclusion: By switching to the proposed algorithm, cost saving can be achieved whilst maximizing the diagnostic rate for invasive prenatal diagnosis. It is recommended to implement aCGH as a primary test following QF-PCR to replace the majority of karyotyping for prenatal diagnosis in Hong Kong. [ABSTRACT FROM AUTHOR]

Objective: To evaluate the effect of rupture of membranes and labour on the risk of hepatitis B virus (HBV) vertical transmission.Study Design: A prospective multicentre observational study was carried out in Hong Kong between 2014-2016. Pregnant HBV carriers were recruited. The duration of rupture of membranes, labour and mode of delivery were collected prospectively. HBV DNA was examined at 28-30 weeks of gestation. All newborns received standard HBV vaccination and immunoglobulin. Hepatitis B surface antigen of infants was tested at 9-12 months of age.Results: 641 pregnancies were recruited and analyzed. No statistically significant difference was found in gravida, parity, gestational age at delivery, mode of delivery, duration of rupture of membranes, duration of labour, preterm delivery, preterm rupture of membranes or birth weight (p > 0.05). Subgroup analysis in viral load > 7log10IU/ml and 8log10IU/ml also did not find a significant association between duration of rupture of membranes and labour with immunoprophylaxis failure.Conclusions: Duration of rupture of membranes and labour would not affect the risk of HBV vertical transmission in infants following standard HBV vaccination and hepatitis B immunoglobulin administration. [ABSTRACT FROM AUTHOR]

Purpose: The use of array comparative genomic hybridization (aCGH) has been increasingly widespread. The challenge of integration of this technology into prenatal diagnosis was the interpretation of results and communicating findings of unclear clinical significance. This study assesses the knowledge and acceptance of prenatal aCGH in Hong Kong obstetricians and pregnant women. The aim is to identify the needs and gaps before implementing the replacement of karyotyping with aCGH. Questionnaires with aCGH information in the form of pamphlets were sent by post to obstetrics and gynecology doctors.Method: For the pregnant women group, a video presentation, pamphlets on aCGH and a self-administered questionnaire were provided at the antenatal clinic.Result: The perception of aCGH between doctors and pregnant women was similar. Doctors not choosing aCGH were more concerned about the difficulty in counseling of variants of unknown significance and adult-onset disease in pregnant women, whereas pregnant women not choosing aCGH were more concerned about the increased waiting time leading to increased anxiety. Prenatal aCGH is perceived as a better test by both doctors and patients.Conclusion: Counseling support, training, and better understanding and communication of findings of unclear clinical significance are necessary to improve doctor-patient experience. [ABSTRACT FROM AUTHOR]

This study supports training in genetic counseling for obstetricians and adoption of a multidisciplinary approach in the counseling process following prenatal diagnosis of sex chromosome aneuploidy. [ABSTRACT FROM AUTHOR]

Tetrasomy 9p (ORPHA:3390) is a rare syndrome, hallmarked by growth retardation; psychomotor delay; mild to moderate intellectual disability; and a spectrum of skeletal, cardiac, renal and urogenital defects. Here we present a Chinese female with good past health who conceived her pregnancy naturally. Non-invasive prenatal testing (NIPT) showed multiple chromosomal aberrations were consistently detected in two sampling times, which included elevation in DNA from chromosome 9p. Amniocentesis was performed and sent for chromosomal microarray, which was normal. Maternal karyotype revealed that mos 47,XX,+dic(9;9)(q21.1;q21.1)(24)/46,XX(9) presents mosaic tetrasomy for the short arm of chromosome 9p and is related to the NIPT results showing elevation in DNA from chromosome 9p. The pregnancy was uneventful, and the patient was delivered at term. Maternal samples were obtained at two different time points after delivery showed the same multiple chromosomal aberrations detected during pregnancy. This is a first report on an unusual case of mosaic isodicentric tetrasomy 9p in a healthy adult with normal intellect. With widespread adoption of NIPT for screening fetal aneuploidy and genome-wide copy number changes, a rise in incidental detection of maternal rare genetic syndrome will bring challenges in our current approach to genetic counselling and prenatal diagnosis. [ABSTRACT FROM AUTHOR]