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-, , , and -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.

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.

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.

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.

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.