Cryptic translocation involving two acrocentric chromosome ends revealed by fluorescence in situ hybridization after two consecutive pregnancies of which the results of chromosome microarray were mirror-imaged.

Objective: Prenatal diagnosis of fetal 13q34 microdeletion is a rare condition, which may present with abnormal fetal development, including facial dysmorphism, mental retardation, and developmental delay. We present a pregnant woman in whom the fetus presented with a 0.24-cm ventricular septal defect at 20 weeks of gestation, with fetal 13q34 (113610612-115092648) deletion.

Perinatal lethal form Gaucher disease with compound heterozygosity of single nucleotide variants and copy number variations presenting as nonimmune hydrops fetalis and cerebellar hypoplasia: A case report.

Objective: To present the ultrasound imaging and genetic diagnosis of a fetus with prenatal lethal form of Gaucher disease.

Case Report: A 37-year-old primiparous woman was pregnant at her 23 weeks of gestation and the prenatal fetal ultrasound revealed hydrops fetalis, cerebellum hypoplasia, and fetal immobility. The pregnancy was terminated due to major fetal anomaly, and whole exome sequencing (WES) analysis of fetal tissue and parental blood unveiled a pathogenic variant in exon 10 of the GBA gene (NM_001005741.

Metabolomic profiling of maternal plasma identifies inverse associations of acetate and urea with anti-SARS-CoV-2 antibody titers following COVID-19 vaccination during pregnancy.

We conducted a comprehensive metabolomic analysis of plasma samples obtained from pregnant women who displayed varying post-vaccination antibody titers after receiving mRNA-1273-SARS-CoV-2 vaccines. The study involved 62 pregnant women, all of whom had been vaccinated after reaching 24 weeks of gestation. To quantify post-vaccination plasma antibody titers, we employed binding antibody units (BAU) in accordance with the World Health Organization International Standard.

Birth outcomes following pelvic ring injury: A retrospective study.

Objective: To report obstetric outcomes in pregnant women with previous pelvic ring injury (PRI) and investigate the correlation between residual pelvic deformity and the mode of delivery.

Design: Retrospective cohort study.

Setting: Single medical centre in Taiwan.

Effect of Gestational Age at Fetoscopic Laser Photocoagulation on Perinatal Outcomes for Patients with Twin-Twin Transfusion Syndrome.

Purpose: The aim of this study was to evaluate the effect of gestational age (GA) at the time of fetoscopic laser photocoagulation (FLP) for severe twin-twin transfusion syndrome (TTTS) on perinatal outcomes in a single center in Taiwan.

Materials And Methods: Severe TTTS was defined as a diagnosis of TTTS before a GA of 26 weeks. Consecutive cases of severe TTTS treated at our hospital with FLP between October 2005 and September 2022 were included.

Prenatal diagnosis of Simpson-Golabi-Behmel syndrome type 1 with an 814 kb Xq26.2 deletion with the initial presentation of a thick nuchal fold.

Objective: Simpson-Golabi-Behmel syndrome type 1 (SGBS1) is a rare X-linked recessive disorder characterized by overgrowth and multiple anomalies. Most clinical diagnoses of SGBS1 are made postnatally. We present the case of a pregnant woman in whom the fetus presented with a thick nuchal fold 5.

Prenatal diagnosis of ALPL gene mutations in recurrent fetal skeletal dysplasia.

Objective: One multiparity women had recurrent pregnancies of skeletal dysplasia. The karyotype and array-comparative genomic hybridization were unremarkable. Thus, trio whole exome sequencings were suggested.

Effect of Fetoscopic Laser Photocoagulation on Fetal Growth and Placental Perfusion in Twin-Twin Transfusion Syndrome.

Objective: To investigate the fetal growth pattern after fetoscopic laser photocoagulation (FLP) in twin-twin transfusion syndrome (TTTS) and the effect of FLP on placental perfusion and intrauterine growth restriction (IUGR) incidence. Methods: TTTS cases with a live delivery of both twins at least 28 days after FLP and with a neonatal follow-up at our hospital at least 60 days after delivery were included. The biometric data obtained before FLP (based on ultrasound); time point M1), upon birth (M2), and at neonatal follow-up (M3) were analyzed.

Effect of Hypoxia on Glucose Transporter 1 and 3 Gene Expression in Placental Mesenchymal Stem Cells Derived from Growth-Restricted Fetuses.

(1) Background: Glucose is transferred from maternal blood to the fetus by glucose transporters. What is the effect of hypoxia on the gene expression of placenta glucose transporter 1 () and glucose transporter 3 () in growth-restricted fetus is interesting. (2) Methods: The gene expression of and and the protein expression of HIF-1α were evaluated under nonhypoxic conditions and after 4 and 8 h under hypoxic conditions in placental mesenchymal stem cells derived from monochorionic twin pregnancies with selective intrauterine growth restriction.

Association between respiratory distress syndrome of newborns and fetal growth restriction evaluated using a dichorionic twin pregnancy model.

Aims: To evaluate the association between respiratory distress syndrome (RDS) and intrauterine fetal growth restriction (IUGR) by using a dichorionic twin model.

Methods: We retrospectively analyzed twins delivered between September 2012 and December 2018. A dichorionic (DC) twin pregnancy with selective IUGR (sIUGR) was defined as the presence of (i) a birthweight discordance of ≥25% and (ii) a smaller twin with birth weight below the 10th percentile.

Incidence, prognosis, and perinatal outcomes of and risk factors for severe twin-twin transfusion syndrome with right ventricular outflow tract obstruction in the recipient twin after fetoscopic laser photocoagulation.

Background: Right ventricular outflow tract obstruction (RVOTO) is the most frequently encountered congenital heart disease in patients with twin -twin transfusion syndrome (TTTS) and is especially prevalent in the recipient twin. In this retrospective study, we evaluated the incidence, prognosis, postnatal management, and perinatal outcomes of and risk factors for RVOTO in the recipient twin in severe TTTS cases which diagnosed before 26 weeks after fetoscopic laser photocoagulation (FLP) at a single center in Taiwan.

Methods: RVOTO was diagnosed using fetal or postnatal echocardiography.

Prenatal Diagnosis of Placental Mesenchymal Dysplasia with 46, X, Isochromosome Xq/45, X Mosaicism.

Placental mesenchymal dysplasia is an uncommon vascular anomaly of the placenta with characteristics of placentomegaly and multicystic appearance and with or without association with fetal chromosomal anomaly. We present a unique placental mesenchymal dysplasia patient with amniotic fluid karyotyping as 46, X, iso(X) (q10). Detailed molecular testing of the amniotic fluid, fetal cord blood, non-dysplastic placenta and dysplastic placenta was conducted after termination of pregnancy, from which we proved biparental/androgenetic (46, X, i(X) (q10)/45, X) mosaicism in different gestational tissues.

Hydrometrocolpos in Infants: Etiologies and Clinical Presentations.

Hydrometrocolpos (HMC) is a rare condition where fluids or secretions accumulate in the vagina (hydrocolpos) or up to the uterus (hydrometrocolpos). This case series study reports three infants with different etiologies and presentations of HMC and aims to review literature for proper workup upon initial diagnosis. The first neonate antenatally presented with a huge cystic mass.

Absence of chronicity in infants born to immunized mothers with occult HBV infection in Taiwan.

Background & Aims: In the Taiwanese population born in the universal vaccination era, HBsAg carrier rates have fallen below 2%, while approximately 5% develop occult hepatitis B infection (OBI). However, the potential for transmission from mothers with OBI to their infants has not been well studied. We aimed to investigate whether mothers with OBI could transmit HBV to their babies.

Frequency and clinical significance of chromosomal inversions prenatally diagnosed by second trimester amniocentesis.

To compare the frequency and clinical significance of familial and de novo chromosomal inversions during prenatal diagnosis. This was a retrospective study of inversions diagnosed prenatally in an Asian population by applying conventional GTG-banding to amniocyte cultures. Data from 2005 to 2019 were extracted from a single-center laboratory database.

Effectiveness of a Nurse-Led Web-Based Health Management in Preventing Women With Gestational Diabetes From Developing Metabolic Syndrome.

Background: Women with gestational diabetes mellitus (GDM) are more likely to develop metabolic syndrome (MS). However, the effectiveness of web-based health management in preventing women at high risk of GDM from developing MS has rarely been studied.

Purpose: The aim of this study was to evaluate the longitudinal effects of nurse-led web-based health management on maternal anthropometric, metabolic measures, and neonatal outcomes.

Delivery management of suspected or confirmed COVID-19 positive mothers.

The Coronavirus Disease-2019 (COVID-19) pandemic has brought catastrophic impact on the world since the beginning of December 2019. Extra precautionary measures against COVID-19 during and after delivery are pivotal to ensure the safety of the baby and health care workers. Based on current literature, it is recommended that delivery decisions be discussed between obstetricians and neonatologists prior to delivery, and designated negative pressure delivery rooms should be arranged for COVID person under investigation (PUI).

Laser therapy for twin-twin transfusion syndrome in a dizygotic monochorionic twin pregnancy: A case report.

Objective: A monochorionic dizygotic (MCDZ) twin is rare, especially when complicated with twin-twin transfusion syndrome (TTTS) and treated by laser therapy.

Case Report: A pregnancy achieved from oocyte donation and intracytoplasmic sperm injection resulted in two embryos transferred. A monochorionic diamniotic twin pregnancy was diagnosed by an early ultrasound; however, at 16 weeks of gestation, instead of the same sex, the ultrasound suspected there was sex discrepancy between the twins.

Association between intrauterine growth restriction and patent ductus arteriosus: Use of a dichorionic twin pregnancy model.

Objective: To evaluate the association between intrauterine growth restriction (IUGR) and the incidence of fetuses with patent ductus arteriosus (PDA) and Hemodynamically significant PDA (Hs-PDA) in dichorionic twins (DC) with selective IUGR.

Materials And Methods: This is an observational cohort study and retrospective case assessment, involved twins born at Linkou Chang Gung Memorial Hospital, Taoyuan, Taiwan between 2013 and 2018. DC twins with selective IUGR (sIUGR) were defined as the presence of a birth weight discordance of >25% and a smaller twin with a birth weight below the tenth percentile.

Placental glucose transporter 1 and 3 gene expression in Monochorionic twin pregnancies with selective fetal growth restriction.

Background: In monochorionic twin (MC) gestations with selective fetal growth restriction (FGR), the discordant fetal growth usually is due to unequal placental sharing. Glucose, which is essential for oxidative metabolism in the growing placenta and fetus, is transferred from maternal blood by facilitated carrier-mediated diffusion via glucose transporters (GLUTs). How the GLUTs expression varies in the two placenta territories manifests discordant perfusion in MC twin pregnancy with selective FGR is unknown.

A donor twin discordant with Peters anomaly in a twin-twin transfusion syndrome case: a case report.

Background: Peters anomaly is a rare form of anterior segment ocular dysgenesis, the antenatal image of Peters anomaly had not been reported. We herein showcased a discordant finding of Peters anomaly in a monozygotic twin complicated with twin-twin transfusion syndrome (TTTS) and exhibited its antenatal sonographic images, CASE PRESENTATION: A 38-year-old gravida 2 para 1 pregnant woman visited our clinic at the gestational age of 18 weeks where TTTS stage III was diagnosed and the following laser therapy was done successfully. Ten days after the surgery, the follow-up ultrasound detected the opacity of both fetal eyeballs in the donor twin and thus congenital cataract was suspected initially.

Severe pre-eclamptic women with headache: is posterior reversible encephalopathy syndrome an associated concurrent finding?

Background: A high incidence of posterior reversible encephalopathy syndrome (PRES) has been observed in women with eclampsia on imaging. However this association was documented mostly after convulsions occurred. This study aimed to detect the development of PRES using magnetic resonance imaging (MRI) in women with severe preeclampsia and headache, and evaluate the clinical and radiological findings in obstetric outcomes.

Factors affecting pregnant women's decisions regarding prenatal pertussis vaccination: A decision-making study in the nationwide Prenatal Pertussis Immunization Program in Taiwan.

Objective: To examine the factors affecting pregnant women's decisions to accept or decline the prenatal pertussis (Tdap) vaccination in Taiwan.

Materials And Methods: We conducted a cross-sectional survey, recruiting pregnant women who had received prenatal care from eight maternity hospitals between January and December 2018. We examined the participants' demographic characteristics, perceptions of pertussis disease risk and vaccination effectiveness, beliefs regarding vaccine information, physician recommendation, and other potential factors affecting decision-making regarding prenatal vaccination.

Gene expression profiling of amniotic fluid mesenchymal stem cells of monozygotic twins discordant for trisomy 21.

Down syndrome is one of the most common chromosomal disorders and yet our understanding about the dysregulated genes in this disease is limited. Through this case study, we investigated the gene expression profile of primary amniotic fluid mesenchymal stem cells (AFMSCs) isolated from the amniotic sac of monozygotic twins discordant for trisomy 21 with one fetal hydrops at 17 weeks of gestation. AFMSCs were cultured to analyze the gene expression profiles for the human transcriptome array.