Humans ; Artificial Intelligence ; Publications

The options for prenatal genetic testing have evolved rapidly in the past decade, and advances in sequencing technology now allow genetic diagnoses to be made down to the single-base-pair level, even before the birth of the child. This offers women the opportunity to obtain information regarding the foetus, thereby empowering them to make informed decisions about their pregnancy. As genetic testing becomes increasingly available to women, clinician knowledge and awareness of the options available to women is of great importance. Additionally, comprehensive pretest and posttest genetic counselling about the advantages, pitfalls and limitations of genetic testing should be provided to all women. This review article aims to cover the range of genetic tests currently available in prenatal screening and diagnosis, their current applications and limitations in clinical practice as well as what the future holds for prenatal genetics.
Child ; Pregnancy ; Female ; Humans ; Prenatal Diagnosis ; Knowledge ; Parturition

Antibodies, Viral ; Antibody Formation ; BNT162 Vaccine ; COVID-19/prevention & control* ; Female ; Humans ; Milk, Human ; Pilot Projects ; RNA, Messenger ; Vaccination

health concerns, triggering an escalated burden to healthsystems worldwide. The pandemic has altered people’sliving norms, yet coherently escalating countries’ socio-economic instability. This real-time consensus review aimsto describe the epidemiological trends of COVID-19pandemic across six South-East Asian nations, and country-specific experiences on pandemic preparedness, responsesand interventions.Methods: Consensus-driven approach between authorsfrom the six selected countries was applied. Countryspecific policy documents, official government mediastatements, mainstream news portals, global statisticsdatabases and latest published literature available betweenJanuary-October 2020 were utilised for information retrieval.Situational and epidemiological trend analyses wereconducted. Country-specific interventions and challengeswere described. Based on evidence appraised, a descriptiveframework was considered through a consensus. Theauthors subsequently outlined the lessons learned,challenges ahead and interventions that needs to be in placeto control the pandemic. Results: The total number of people infected with COVID-19between 1 January and 16 November 2020 had reached48,520 in Malaysia, 58,124 in Singapore, 3,875 in Thailand,470,648 in Indonesia, 409,574 in Philippines and 70,161 inMyanmar. The total number of people infected with COVID-19 in the six countries from January to 31 October 2020 were936,866 cases and the mortality rate was 2.42%. Indonesiahad 410,088 cases with a mortality rate of 3.38%, Philippineshad 380,729 cases with a mortality rate of 1.90%, Myanmarhad 52,706 cases with a mortality rate of 2.34%, Thailand had3,780 cases with a mortality rate of 1.56%, Malaysia had31,548 cases with a mortality rate of 0.79%, and Singaporehad 58,015 cases with a mortality rate of 0.05% over the 10-month period. Each country response varied depending onits real-time situations based on the number of active casesand economic situation of the country. Conclusion: The number of COVID-19 cases in thesecountries waxed and waned over the 10-month period, thenumber of cases may be coming down in one country, andvice versa in another. Each country, if acting alone, will notbe able to control this pandemic. Sharing of information andresources across nations is the key to successful control ofthe pandemic. There is a need to reflect on how thepandemic affects individuals, families and the community asa whole. There are many people who cannot afford to beisolated from their families and daily wage workers whocannot afford to miss work. Are we as a medical community,only empathising with our patients or are we doing ourutmost to uphold them during this time of crisis? Are thereany other avenues which can curb the epidemic whilereducing its impact on the health and socio-economiccondition of the individual, community and the nation?

INTRODUCTION: Pregnant women are reported to be at increased risk of severe coronavirus disease 2019 (COVID-19) due to underlying immunosuppression during pregnancy. However, the clinical course of COVID-19 in pregnancy and risk of vertical and horizontal transmission remain relatively unknown. We aim to describe and evaluate outcomes in pregnant women with COVID-19 in Singapore. METHODS: Prospective observational study of 16 pregnant patients admitted for COVID-19 to 4 tertiary hospitals in Singapore. Outcomes included severe disease, pregnancy loss, and vertical and horizontal transmission. RESULTS: Of the 16 patients, 37.5%, 43.8% and 18.7% were infected in the first, second and third trimesters, respectively. Two gravidas aged ≥35 years (12.5%) developed severe pneumonia; one patient (body mass index 32.9kg/m2) required transfer to intensive care. The median duration of acute infection was 19 days; one patient remained reverse transcription polymerase chain reaction (RT-PCR) positive >11 weeks from diagnosis. There were no maternal mortalities. Five pregnancies produced term live-births while 2 spontaneous miscarriages occurred at 11 and 23 weeks. RT-PCR of breast milk and maternal and neonatal samples taken at birth were negative; placenta and cord histology showed non-specific inflammation; and severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2)-specific immunoglobulins were elevated in paired maternal and umbilical cord blood (n=5). CONCLUSION The majority of COVID-19 infected pregnant women had mild disease and only 2 women with risk factors (obesity, older age) had severe infection; this represents a slightly higher incidence than observed in age-matched non-pregnant women. Among the women who delivered, there was no definitive evidence of mother-to-child transmission via breast milk or placenta.
Abortion, Spontaneous/epidemiology* ; Adult ; COVID-19/transmission* ; COVID-19 Nucleic Acid Testing ; COVID-19 Serological Testing ; Cohort Studies ; Disease Transmission, Infectious/statistics & numerical data* ; Female ; Fetal Blood/immunology* ; Humans ; Infectious Disease Transmission, Vertical/statistics & numerical data* ; Live Birth/epidemiology* ; Maternal Age ; Milk, Human/virology* ; Obesity, Maternal/epidemiology* ; Placenta/pathology* ; Pregnancy ; Pregnancy Complications, Infectious/physiopathology* ; Pregnancy Outcome/epidemiology* ; Pregnancy Trimester, First ; Pregnancy Trimester, Second ; Prospective Studies ; RNA, Viral/analysis* ; Risk Factors ; SARS-CoV-2 ; Severity of Illness Index ; Singapore/epidemiology* ; Umbilical Cord/pathology* ; Young Adult

INTRODUCTIONManagement of complicated monochorionic twins and certain intrauterine structural anomalies is a pressing challenge in communities that still lack advanced fetal therapy. We describe our efforts to rapidly initiate selective feticide using radiofrequency ablation (RFA) and selective fetoscopic laser photocoagulation (SFLP) for twin-to-twin transfusion syndrome (TTTS), and present the latter as a potential model for aspiring fetal therapy units.

METHODSFive pregnancies with fetal complications were identified for RFA. Three pregnancies with Stage II TTTS were selected for SFLP. While RFA techniques utilising ultrasonography skills were quickly mastered, SFLP required stepwise technical learning with an overseas-based proctor, who provided real-time hands-off supervision.

RESULTSAll co-twins were live-born following selective feticide; one singleton pregnancy was lost. Fetoscopy techniques were learned in a stepwise manner and procedures were performed by a novice team of surgeons under proctorship. Dichorionisation was completed in only one patient. Five of six twins were live-born near term. One pregnancy developed twin anaemia-polycythaemia sequence, while another was complicated by co-twin demise.

DISCUSSIONProctor-supervised directed learning facilitated the rapid provision of basic fetal therapy services by our unit. While traditional apprenticeship is important for building individual expertise, this system is complementary and may benefit other small units committed to providing these services.

INTRODUCTIONInvasive prenatal diagnosis (IPD) has long been used to prenatally diagnose Down syndrome (DS), but it is associated with a small risk of miscarriage. Noninvasive prenatal testing (NIPT) is a highly sensitive screening test using cell-free DNA in maternal blood for detection of DS without the risk of miscarriage, but it confers a small risk of false-positive and false-negative results. The implementation of these procedures into clinical practice requires an understanding of stakeholder preferences.

METHODSA total of 69 health professionals (HPs) and 301 women took part in a discrete choice experiment (DCE) in which preferences for four prenatal test attributes - accuracy, time of results, risk of miscarriage and amount of information provided - were assessed. Conditional logit regression was used to analyse the data. Data on demographics and ranked preferences for test attributes was collected, and a direct choice question regarding NIPT, IPD or neither test was posed to participants.

RESULTSThe women showed a preference for test safety, whereas HPs prioritised test accuracy above all other attributes. When offered a direct choice of NIPT, IPD or neither test, women aged 35 years and older, those with previous miscarriage or who knew a child with DS were more likely to choose NIPT. Chinese women preferred NIPT, whereas Indian women preferred IPD.

CONCLUSIONOur data highlights the need for patient-specific counselling, taking into account previous experiences and cultural factors. Since women and HPs prioritise different test attributes, it is essential that HPs recognise these differences in order to provide non-biased counselling.