Adverse Perinatal and Early Life Outcomes following 15q11.2 CNV Diagnosis.

The copy number variation (CNV) of 15q11.2, an emerging and common condition observed during prenatal counseling, is encompassed by four highly conserved and non-imprinted genes-TUBGCP5, CYFIP1, NIPA1, and NIPA2-which are reportedly related to developmental delays or general behavioral problems. We retrospectively analyzed 1337 samples from genetic amniocentesis for fetal CNV using microarray-based comparative genomic hybridization analysis between January 2014 and December 2019. 15q11.2 CNV showed a prevalence of 1.5% (21/1337). Separately, 0.7% was noted for 15q11.2 BP1-BP2 microdeletion and 0.8% for 15q11.2 microduplication. Compared to the normal array group, the 15q11.2 BP1-BP2 microdeletion group had more cases of neonatal intensive care unit transfer, an Apgar score of <7 at 1 min, and neonatal death. Additionally, the group was symptomatic with developmental delays and had more infantile deaths related to congenital heart disease (CHD). Our study makes a novel contribution to the literature by exploring the differences in the adverse perinatal outcomes and early life conditions between the 15q11.2 CNV and normal array groups. Parent-origin gender-based differences may help in the prognosis of the fetal phenotype; development levels should be followed up in the long term and echocardiography should be offered prenatally and postnatally for the prevention of a delayed diagnosis of CHD.

A novel de novo mutation in COL2A1 gene associated with fetal skeletal dysplasia.

OBJECTIVE: Skeletal dysplasias, caused by genetic mutations, are a heterogenous group of heritable disorders affecting bone development during fetal life. Stickler syndrome, one of the skeletal dysplasias, is an autosomal dominant connective tissue disorder caused by abnormal collagen synthesis owing to a genetic mutation in COL2A1. CASE REPORT: We present the case of a 38-year-old multipara woman whose first trimester screening showed a normal karyotype. However, the bilateral femur and humerus length symmetrically shortened after 20 weeks. Next-generation sequencing for mutations in potential genes leading to skeletal dysplasia detected a novel de novo mutation (c.1438G > A, p.Gly480Arg) in COL2A1, causing Stickler syndrome type 1. This pathogenic mutation might impair or destabilize the collagen structure, leading to collagen type II, IX, and XI dysfunction. CONCLUSION: We identified a novel de novo mutation in COL2A1 related to the STL1 syndrome and delineated the extent of the skeletal dysplasia disease spectrum.

Risk factors for abnormal postpartum glycemic states in women diagnosed with gestational diabetes by the International Association of Diabetes and Pregnancy Study Groups criteria.

AIMS/INTRODUCTION: To evaluate the rate of postpartum glycemic screening tests (PGST) in women with gestational diabetes mellitus (GDM), and to investigate risk factors for abnormal PGST results. MATERIALS AND METHODS: We retrospectively analyzed the obstetric data of 1,648 women with GDM who gave birth after 28 completed weeks of gestation between 1 July 2011 and 31 December 2019 at Taipei Chang Gung Memorial Hospital, Taiwan. GDM was diagnosed by the International Association of Diabetes and Pregnancy Study Groups criteria. PGST was carried out at 6-12 weeks postpartum with a 75-g, 2-h oral glucose tolerance test, and the results were classified into normal, prediabetes and diabetes mellitus. Multiple logistic regression was used to assess the associations between various risk factors and abnormal PGST results. RESULTS: In total, 493 (29.9%) women underwent PGST and 162 (32.9%) had abnormal results, including 135 (27.4%) with prediabetes and 27 (5.5%) with diabetes mellitus. Significant risk factors for postpartum diabetes mellitus included insulin therapy during pregnancy (adjusted odds ratio [OR] 10.79, 95% confidence interval [CI] 4.07-28.58), birthweight >4,000 g (adjusted OR 10.22, 95% CI 1.74-59.89) and preterm birth <37 weeks' gestation (adjusted OR 3.33, 95% CI 1.09-10.22); whereas prepregnancy body mass index >24.9 kg/m2 (adjusted OR 1.99, 95% CI 1.24-3.21) was the major risk factor for postpartum prediabetes. CONCLUSIONS: Less than one-third of women with GDM underwent PGST, and nearly one-third of these women had abnormal results. Future efforts should focus on reducing the barriers to PGST in women with GDM.

Current update of first trimester preeclampsia screening in Asia.

In consideration of high prevalence of preeclampsia, enormous studies attempted to look for strategies in early gestation. Hence, a powerful screening should be built up in first trimester. Then, Aspirin could be administrated for proper prevention. The objective of this article is reviewing the screening for preeclampsia in first trimester recently. To identify the high-risk group precisely, an effective model should be recommended to Asian population. Articles related to first trimester screening of PE in Asia from databases of PubMed, ScienceDirect and Scopus were searched for this narrative review. The criteria included randomized clinical trials, observational prospective and retrospective cohort studies, case-control studies, systematic review and meta-analysis and professional review articles. Screening models combining maternal factors, biophysical factors, ultrasound studies and biochemical factors achieved high predictive performance of preeclampsia. In Asia, the detection rate of the Fetal Medicine Foundation is superior to those of the American College of Obstetricians and Gynecologists and the National Institute for Health and Care Excellence. Consequently, this effective model from the Fetal Medicine Foundation should be continuously used for screening in first trimester for the Asian.

Association between maternal anemia at admission for delivery and adverse perinatal outcomes.

BACKGROUND: Maternal anemia is a risk factor for poor pregnancy outcomes and threatens maternal or fetal life. Anemia increases the risk of low birth weight and preterm birth. We aimed to determine the cutoff level of hemoglobin and risk factors for maternal anemia at admission for delivery and investigate the association between maternal anemia and adverse perinatal outcomes in contemporary Taiwanese women. METHODS: About 32,234 women admitted to the Taipei Chang Gung Memorial Hospital from 2001 to 2016 were enrolled in this retrospective observational cohort study. The prevalence of pre-delivery maternal anemia in Taiwan and the maternal demographic and perinatal outcomes associated with maternal anemia was assessed. RESULTS: The 10th and 5th percentile hemoglobin levels of the test cohort (2001-2008, n = 15,602) were 10.8 g/dL and 9.9 g/dL, respectively. In the study cohort (2009-2016, n = 13,026), women who were multiparous, who were aged >34 years, with history of cesarean delivery, and with history of uterine fibroids had higher prevalence of anemia. Anemic women were at increased risk of cesarean delivery, primary cesarean delivery, premature rupture of membranes, early preterm birth <34 weeks, having very low birth weight infants (<1,500 g), having large for gestational age infants, and neonatal intensive care center transfer, but at lower risk of having small for gestational age infants. CONCLUSION: Maternal anemia at delivery is a risk factor for primary cesarean delivery and adverse maternal and neonatal outcomes. Furthermore, we hypothesize that maternal anemia might increase fetoplacental vasculogenesis and angiogenesis as an adaptive response.