Prenatal diagnosis of Myhre syndrome with a heterozygous pathogenic variant in SMAD4 gene presented with thick nuchal translucency and cardiac abnormalities.

Prenatal testing was performed in a 39-year-old Chinese pregnant woman referred for increased nuchal translucency measuring 5.7 mm. Non-invasive prenatal testing and SNP array study on amniotic fluid samples were normal. Whole exome sequencing (WES) was initiated further as the fetus had pericardial effusion of 1.2 mm, thickened myocardium over the right ventricular lateral wall and aberrant right subclavian artery. A detailed fetal echocardiogram also revealed persistent left superior vena cava and dilated coronary sinus at 20 weeks. From whole exome sequencing of the trio, a de novo heterozygous variant NM_005359.5(SMAD4): c.1499T>C (p.Ile500Thr) was detected. This pathogenic variant has been reported in the postnatal case cohort of Myhre syndrome. This condition is characterized by facial dysmorphism, intellectual disability, hearing loss, skeletal abnormalities and potential life threatening respiratory or cardiovascular manifestations. Termination of pregnancy was performed at 23 weeks. Small chins, pre-axial polydactyly, brachydactyly and clinodactyly were noted in the abortus. Ultrasound findings of increased nuchal translucency, thickened myocardium and pericardial effusion prompted further genetic evaluation for the prenatal diagnosis of Myhre syndrome by whole exome sequencing.

Clinical presentation, investigation, underlying causes, and subsequent pregnancy outcomes among different phenotypes of second trimester miscarriage.

AIM: To evaluate the causes of miscarriage and subsequent pregnancy outcomes among different phenotypes of second trimester miscarriage. METHODS: Retrospective analysis of 170 consecutive second trimester miscarriages between 14 + 0 and 23 + 6 weeks recorded in the Clinical Data Analysis and Reporting System from 2012 to 2021. Cases were excluded if miscarriages occurred before 14 + 0 weeks of gestation, data were incomplete, or passage of the fetus happened before the clinical assessment. Cases were classified with a stepwise approach into three phenotypic groups including silent miscarriages (ST-SM), rupture of membranes (ST-ROM), and inevitable miscarriages (ST-IM) depending on the fetal heart pulsation and leakage of liquor at presentation. Clinical investigation of the underlying causes and the outcome of the subsequent pregnancy was then reviewed. RESULTS: There were 97 cases of ST-SM, 21 cases of ST-ROM, and 52 cases of ST-IM. Placental histology and karyotype examination were more likely to yield significant results in the cases of ST-ROM and ST-SM (p < 0.05). The phenotypic examination identified different underlying causes including fetal anomaly, suspected cervical insufficiency, diabetes mellitus, and unknown causes (p < 0.001). Sixty-four cases achieved a subsequent pregnancy. Although women with history of ST-ROM and ST-IM received more cervical length monitoring and cervical cerclage than those with ST-SM (66.7% vs. 44.4% vs. 7.5%, p = 0.0002; and 16.7% vs. 22.2% vs. 2.5%, p = 0.031, respectively), the risk of recurrent second trimester miscarriage was higher in ST-ROM and ST-IM than in ST-SM (16.7% vs. 0%, p = 0.018). CONCLUSION: The classification can differentiate different second trimester miscarriage phenotypes, which offers essential information to guide investigation panels of the underlying cause of miscarriages, and the prognosis and management of subsequent pregnancy. Future researches focused on second trimester miscarriage should report their findings according to different phenotypes.

The effects of not having continuous companion support during labour on pregnancy and neonatal outcomes during the COVID-19 pandemic.

OBJECTIVE: With the surge of confirmed cases of coronavirus disease 2019 (COVID-19) and its associated morbidities and mortalities, continuous companion support during labour was halted in all public hospitals in Hong Kong to prevent the spread of the virus in hospitals. The purpose of this retrospective study was to evaluate the effect of not having continuous companion support during labour on pregnancy and neonatal outcomes during the COVID-19 pandemic period in a regional hospital. STUDY DESIGN: We retrieved information on women without continuous companion support during the COVID-19 pandemic period from February 1, 2020 to May 15, 2020 and those with continuous companion support within the same period in 2019 in Queen Mary Hospital, Hong Kong. The pregnancy and neonatal outcomes were compared between the two groups. RESULTS: A total of 446 women with continuous companion support in 2019 and 340 women without continuous companion support in 2020 were included in the analysis. The rate of labour augmentation was significantly lower in women with continuous companion support than in those without continuous companion support (3.1% vs. 6.5%, respectively, p = 0.027). Babies born to women with continuous companion support were less likely to have Apgar scores <7 at 1 min than those born to women without continuous companion support (2.5% vs. 5.3%, respectively, p = 0.036). More women with continuous companion support had breastfeeding at the first hour of delivery than those without (86.3% vs. 80.6%, respectively, p = 0.030). There were no differences in other pregnancy and neonatal outcomes. The subgroup analysis with only Chinese women showed that the pregnancy and neonatal outcomes were not significantly different between the two groups. CONCLUSION: Women without continuous companion support during labour had an increased chance of labour augmentation and babies with an Apgar score <7 at 1 min, and a reduced immediate breastfeeding rate when compared with those with continuous companion support.