Prenatal diagnosis of 9q34.3 microdeletion-associated Kleefstra syndrome in a pregnancy complicated by polyhydramnios: A case report and literature review.

Objective: Kleefstra Syndrome (KS) is a rare genetic disorder caused by a deletion at 9q34.3. Studies showed that various heart defects are observed in 41-43% of patients and abnormal features on brain imaging in 58-63%.

The association between plasma angiopoietin-like protein 4, glucose and lipid metabolism during pregnancy, placental function, and risk of delivering large-for-gestational-age neonates.

Background: Large-for-gestational-age (LGA) neonates have increased risk of adverse pregnancy outcomes and adult metabolic diseases. We aimed to investigate the relationship between plasma angiopoietin-like protein 4 (ANGPTL4), a protein involved in lipid and glucose metabolism during pregnancy, placental function, growth factors, and the risk of LGA.

Methods: We conducted a prospective cohort study and recruited women with singleton pregnancies at the National Taiwan University Hospital between 2013 and 2018.

Advanced maternal age-related clustering of metabolic abnormalities is associated with risks of adverse pregnancy outcomes.

Aims: Advanced maternal age (AMA) is correlated with higher risk of adverse pregnancy outcomes while the pathophysiology remains unclear. Our study aimed to investigate whether AMA is linked to the clustering of metabolic abnormalities, which in turn is associated with an increased risk of adverse pregnancy outcomes.

Method: A total of 857 pregnant woman were recruited in a prospective cohort at National Taiwan University Hospital, from November 2013 to April 2018.

Risk of placenta accreta spectrum following myomectomy: a nationwide cohort study.

Background: Whether myomectomy increases the risk of placenta accreta spectrum in the following pregnancies remains controversial.

Objective: This study aimed to investigate the effect of myomectomy on the risk of placenta accreta spectrum in the following pregnancies. Moreover, different methods of myomectomy on the risk of placenta accreta spectrum were explored.

Clinical outcomes of fetuses with chromosome 16 short arm copy number variants.

Background: The short arm of chromosome 16 consists of several copy number variants (CNVs) that are crucial in neurodevelopmental disorders; however, incomplete penetrance and diverse phenotypes after birth aggravate the difficulty of prenatal genetic counseling.

Methods: We screened 15,051 pregnant women who underwent prenatal chromosomal microarray analysis between July 2012 and December 2017. Patients with positive array results were divided into four subgroups based on the type of mutation identified on screening (16p13.

The Prenatal Diagnosis and Clinical Outcomes of Fetuses With 15q11.2 Copy Number Variants: A Case Series of 36 Patients.

Prenatal genetic counseling of fetuses diagnosed with 15q11.2 copy number variants (CNVs) involving the BP1-BP2 region is difficult due to limited information and controversial opinion on prognosis. In total, we collected the data of 36 pregnant women who underwent prenatal microarray analysis from 2010 to 2017 and were assessed at National Taiwan University Hospital.

Prediction of spontaneous preterm birth by cervical length in the first trimester of pregnancy: Comparison of two measurement methods.

Introduction: Our objectives were to compare the single-line and two-line methods of cervical length measurement in the first trimester of pregnancy and to evaluate the potential value of the first trimester cervical length measured by the two methods in predicting spontaneous preterm birth.

Material And Methods: This was a prospective study in singleton pregnancies at 11+0 to 13+6 weeks of gestation. Cervical length was measured by two methods: (i) a linear distance between the two ends of the glandular area around the endocervical canal (single-line method) and (ii) a sum of a linear distance from the internal os to the greatest cervical curvature and a linear distance from this point of the cervix to the external os (two-line method).

Uncontrolled before-after study adding carbetocin in addition to oxytocin decreases blood loss for cesarean section in twin pregnancies.

Purpose: To evaluate the effectiveness of adding carbetocin to regular uterotonic agents for prevention of postpartum hemorrhage (PPH) after cesarean section for twin pregnancies.

Methods: This is a retrospective uncontrolled before-after study done in a tertiary center in Taiwan, 2010-2017. Women with twin pregnancies that underwent cesarean section were enrolled.

Simplifying the screening of gestational diabetes by maternal age plus fasting plasma glucose at first prenatal visit: A prospective cohort study.

Aim: The addition of maternal age to fasting plasma glucose (FPG) at 24-28 gestational weeks improves the performance of GDM screening as maternal age increases. However, this method delays the diagnosis of GDM. Since FPG at the first prenatal visit (FPV) is a screening option for pre-existing diabetes, we evaluated the performance of age plus FPG at the FPV to reduce the need for the OGTT.

Shear-wave sonoelastographic assessment of cervix in pregnancy.

Introduction: The aim of this study was to investigate the differences in shear-wave sonoelastography (SWS) scores between the different parts of cervix, explore the association between the cervical SWS scores with cervical length and evaluate repeatability of the measurement of cervical SWS scores.

Material And Methods: This was a prospective study performed in women with singleton pregnancy at 11-13 (n = 676), 16-20 (n = 364), 21-24 (n = 338) and 28-32 weeks (n = 304). The SWS scores were obtained at the inner, middle and external parts of the cervix, using a transvaginal ultrasound approach.

Overweight and obesity are associated with clustering of metabolic risk factors in early pregnancy and the risk of GDM.

Aim: Overweight and obesity are important risk factors of gestational diabetes mellitus (GDM). Clustering of metabolic risk factors in early pregnancy may be a potential pathogenesis between the link of overweight/obesity and GDM. Since it remains unexplored, we investigated if overweight and obesity are associated with clustering of metabolic risk factors in early pregnancy and the risk of GDM in this cohort study.

Fragile X syndrome carrier screening in pregnant women in Chinese Han population.

Fragile X syndrome (FXS) is the most frequent genetic cause of intellectual disability (ID). It was previously believed that the FXS prevalence was low in Chinese population, and the cost-efficiency of FXS carrier screening was questioned. This retrospective observational study was conducted between September 2014 and May 2017 to determine the prevalence of FXS carriers in a large Chinese cohort of pregnant women.

Mother-to-child transmission of HIV: An 11-year experience in a single center and HIV prevention effectiveness in Taiwan.

Background: Mother-to-child transmission (MTCT) of human immunodeficiency virus (HIV) has become an essential global health issue and its elimination is a crucial target. A prenatal "opt-out" HIV screening program was initiated in 2005 in Taiwan. In recent 3 years, approximate screening and MTCT rates were 99% and 2.

Complication rates after chorionic villus sampling and midtrimester amniocentesis: A 7-year national registry study.

Purpose: To assess the complication rates following chorionic villus sampling (CVS) and midtrimester amniocentesis in Taiwan.

Methods: This is a national registry-based cohort study from Taiwan. We included all women with singleton pregnancies who received either CVS (n = 1409) or midtrimester amniocentesis (n = 250,566) during 2006-2012.

Plasma High-Sensitivity C-Reactive Protein Level is Associated with Impaired Estimated Glomerular Filtration Rate in Hypertensives.

Background: Both inflammation and chronic kidney disease (CKD) are related to cardiovascular disease. Whether inflammatory biomarkers are associated with impaired glomerular filtration rate (GFR) is unclear in hypertensives.

Methods: We recruited hypertension patients from the cardiovascular clinic of a tertiary medical center in Taiwan.