Polyhydramnios associated with rare genetic syndromes: two case reports.

BACKGROUND: We present two genetic causes of polyhydramnios that were challenging to diagnose due to their rarity and complexity. In view of the severe implications, we wish to highlight these rare genetic conditions when obstetricians consider differential diagnoses of polyhydramnios in the third trimester. CASE PRESENTATION: Patient 1 is a 34-year-old Asian woman who was diagnosed with polyhydramnios at 28 weeks' gestation. First trimester testing, fetal anomaly scan, and intrauterine infection screen were normal. Subsequent antenatal ultrasound scans revealed macroglossia, raising the suspicion for Beckwith-Wiedemann syndrome. Chromosomal microarray analysis revealed a female profile with no pathological copy number variants. The patient underwent amnioreduction twice in the pregnancy. The patient presented in preterm labor at 34 weeks' gestation but elected for an emergency caesarean section. Postnatally, the baby was noted to have a bell-shaped thorax, coat hanger ribs, hypotonia, abdominal distension, and facial dysmorphisms suggestive of Kagami-Ogata syndrome. Patient 2 is a 30-year-old Asian woman who was diagnosed with polyhydramnios at 30 weeks' gestation. She had a high-risk first trimester screen but declined invasive testing; non-invasive prenatal testing was low risk. Ultrasound examination revealed a macrosomic fetus with grade 1 echogenic bowels but no other abnormalities. Intrauterine infection screen was negative, and there was no sonographic evidence of fetal anemia. She had spontaneous rupture of membranes at 37 + 3 weeks but subsequently delivered by caesarean section in view of pathological cardiotocography. The baby was noted to have inspiratory stridor, hypotonia, low-set ears, and bilateral toe polysyndactyly. Further genetic testing revealed a female profile with a pathogenic variant of the GLI3 gene, confirming a diagnosis of Greig cephalopolysyndactyly syndrome. CONCLUSION: These cases illustrate the importance of considering rare genetic causes of polyhydramnios in the differential diagnosis, particularly when fetal anomalies are not apparent at the 20-week structural scan. We would like to raise awareness for these rare conditions, as a high index of suspicion enables appropriate counseling, prenatal testing, and timely referral to pediatricians and geneticists. Early identification and diagnosis allow planning of perinatal care and birth in a tertiary center managed by a multidisciplinary team.

Integrated approach to e-learning enhanced both subjective and objective knowledge of aEEG in a neonatal intensive care unit.

INTRODUCTION: Various meta-analyses have shown that e-learning is as effective as traditional methods of continuing professional education. However, there are some disadvantages to e-learning, such as possible technical problems, the need for greater self-discipline, cost involved in developing programmes and limited direct interaction. Currently, most strategies for teaching amplitude-integrated electroencephalography (aEEG) in neonatal intensive care units (NICUs) worldwide depend on traditional teaching methods. METHODS: We implemented a programme that utilised an integrated approach to e-learning. The programme consisted of three sessions of supervised protected time e-learning in an NICU. The objective and subjective effectiveness of the approach was assessed through surveys administered to participants before and after the programme. RESULTS: A total of 37 NICU staff (32 nurses and 5 doctors) participated in the study. 93.1% of the participants appreciated the need to acquire knowledge of aEEG. We also saw a statistically significant improvement in the subjective knowledge score (p = 0.041) of the participants. The passing rates for identifying abnormal aEEG tracings (defined as ≥ 3 correct answers out of 5) also showed a statistically significant improvement (from 13.6% to 81.8%, p < 0.001). Among the participants who completed the survey, 96.0% felt the teaching was well structured, 77.8% felt the duration was optimal, 80.0% felt that they had learnt how to systematically interpret aEEGs, and 70.4% felt that they could interpret normal aEEG with confidence. CONCLUSION: An integrated approach to e-learning can help improve subjective and objective knowledge of aEEG.

Survey on parenting practices among Chinese in Singapore.

INTRODUCTION: Cultural, religious and personal factors impact greatly on parenting. This survey aims to identify gaps in knowledge and perception about common parenting issues, with respect to mandarin-speaking Chinese in Singapore. There is an emphasis on first-time parents, who the authors feel may be the group which will require additional education and support on these issues. METHODS: A 37-item written survey was conducted before a public mandarin-language forum. Our response rate was 67 percent. RESULTS: Only 44 percent felt that paediatricians allocated sufficient time to discuss parenting issues. 99 percent of parents believed that breast milk was better than formula milk and that 93 percent intended to breastfeed. However, the vast majority of respondents thought that breastfeeding should be stopped if jaundice developed, and that sunning was effective in preventing jaundice. Moreover, the majority did not recognise the seriousness of jaundice, prolonged or otherwise. Widespread misconceptions existed about milk formulas, with half of the respondents thinking that it was necessary to change to lactose-free formula once a child developed diarrhoea. The majority also thought that certain milk formulas could help improve IQ. CONCLUSION: We hope that more comprehensive and accessible parental education will be available to aid in raising awareness of parental practices, and to dispel misconceptions regarding neonatal care.