Implementation of Public Funded Genome Sequencing in Evaluation of Fetal Structural Anomalies.

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.

Intrauterine fetal death followed by shoulder dystocia and birth by modified posterior axillary sling method: a case report.

BACKGROUND: Various manoeuvres such as McRoberts position, suprapubic pressure, rotational methods, posterior arm extraction and all-four position (HELPERR) have been proposed for relieving shoulder dystocia with variable success. Posterior axillary sling method using a rubber catheter was proposed in 2009 but has not been widely used. We modified this method using ribbon gauzes and a long right-angle forceps and report a successful case. CASE PRESENTATION: A 44 years old parity one Chinese woman with a history of a caesarean delivery and poorly controlled type 2 diabetes mellitus was admitted to the Accident and Emergency Department for advanced stage of labour at term. Upon arrival, intrauterine fetal demise was diagnosed with severe asynclitism causing obstruction at the perineum. Episiotomy resulted in birth of the fetal head. The fetal posterior right shoulder, however, remained very high up in the pelvis and HELPERR methods failed to extract the shoulders. We then tied two long ribbon gauzes together, and guided its knot to the anterior aspect of the posterior axilla. By using a long right-angle forceps (24 cm long) to grasp the knot on the posterior side of the axilla and pulling it through, a sling was formed. Traction was then applied through the sling to simultaneously pull and rotate the posterior shoulder. A stillbirth of 3488 g was finally extracted. CONCLUSIONS: We modified the sling method by using two ribbon gauzes, tied together and a right-angle forceps with several advantages. Compared to a rubber catheter, ribbon gauze with a knot can be easily held between the fingers for easy guidance past the fetal axilla. It is also thin, non-elastic and stiff enough to ensure a good grip for traction. The long and slim design of the right-angle forceps makes it easy to pass through a narrow space and reach the axilla high up in the pelvis. We emphasize simultaneous traction and rotation, so that the shoulders are delivered through the wider oblique pelvic outlet dimension.

The Use of Somatex Shunt for Fetal Pleural Effusion: A Cohort of 8 Procedures.

INTRODUCTION: Fetal pleural effusion may require in utero shunting which is associated with procedure-related complications. OBJECTIVE: To evaluate the efficacy and complications of the newly designed Somatex shunt in treating fetal pleural effusion. METHODS: Consecutive cases with primary fetal pleural effusion who were treated with the Somatex shunt between 2018 and 2019 were evaluated. Perinatal outcomes and complications were retrospectively analyzed. RESULTS: There were 6 cases of unilateral and 1 case of bilateral pleural effusion, and hence a total of 8 pleuroamniotic shunting procedures were performed. The median gestational age at diagnosis and shunting was 20.7 and 22.6 weeks, respectively. All 8 procedures were successful, achieving complete in utero drainage. All but one were live births (85.7%) with a median gestational age of 38 weeks. The single case of in utero death occurred 4.7 weeks after successful shunting, and no cause could be identified after autopsy. The rates of preterm birth and premature rupture of membranes were 33.3% (2/6) and 16.7% (1/6), respectively. Four of the 8 procedures (50%) had minor shunt-related complications such as dislodgement and entrapment, occurring at a median of 7.7 weeks after shunting. None of the shunts became blocked. CONCLUSIONS: The Somatex shunt is effective in relieving fetal pleural effusions with good survival rate. Overall, it was a safe instrument, though minor shunt complications occurred.

Clinical and psychological impact after surgical, medical or expectant management of first-trimester miscarriage--a randomised controlled trial.

BACKGROUND: The management of first-trimester miscarriage has been studied extensively in recent years. However, relatively little attention has been focussed on woman's satisfaction and psychological impact from different treatment modalities. AIM: To investigate the clinical and psychological outcomes of surgical, medical and expectant management of first-trimester miscarriage. MATERIALS AND METHODS: A prospective randomised controlled trial of 180 women suffering miscarriage managed by either surgical evacuation, medical evacuation or expectant management was conducted in a university-affiliated, tertiary referral hospital. The complete miscarriage rate, clinical symptomatology, complications, women's satisfaction and the psychological impact were evaluated. RESULTS: Women in surgical evacuation (98.1%) had a significantly higher complete miscarriage rate when compared with medical evacuation (70%) and expectant management (79.3%). Women who had surgical evacuation had significantly shorter duration of vaginal bleeding, but higher rate of infection. Women who had medical evacuation had significantly more gastrointestinal symptoms. Despite differences in efficacy and complication profile, there was no significant difference in satisfaction among groups. There were no significant differences in terms of psychological well-being, depression scores, anxiety level, fatigue symptoms as measured in General Health Questionnaire-12, Beck Depression Inventory, Spielberger's State Anxiety Inventory and fatigue scale at treatment and four weeks after treatment. However, women with active intervention had greater post-traumatic stress symptoms as measured in Chinese version of Impact of Event Scale-Revised at the time of treatment when compared with women in expectant management. CONCLUSION: Without substantial differences in the clinical and psychological impact between different treatment modalities, a more conservative approach with expectant management for miscarriage may be an option for women.