The genetic landscape of chromosomal aberrations in 3776 Vietnamese fetuses with clinical anomalies during pregnancy.

Background: Copy number variation sequencing (CNV-seq) is a powerful tool to discover structural genomic variation, but limitations associated with its retrospective study design and inadequate diversity of participants can be impractical for clinical application. Aim: This study aims to use CNV-seq to assess chromosomal aberrations in pregnant Vietnamese women. Materials & methods: A large-scale study was conducted on 3776 pregnant Vietnamese women with abnormal ultrasound findings. Results: Chromosomal aberrations were found in 448 (11.86%) women. Of these, 274 (7.26%) had chromosomal aneuploidies and 174 (4.61%) carried pathogenic/likely pathogenic CNVs. Correlations were established between chromosomal aberrations and various phenotypic markers. Conclusion: This comprehensive clinical study illuminates the pivotal role of CNV-seq in prenatal diagnosis for pregnancies featuring fetal ultrasound anomalies.

Awareness of Nutrition and Supplements Among Pregnant and Preconception Women: A Real-World Study in Vietnam.

Background: Few studies have addressed relationships between health literacy (HL) and nutritional awareness in preconception/pregnancy populations, especially within Asia. We explored the rationale for nutrition-related education and/or HL interventions to improve nutritional intake among preconception/pregnant women. Methods: A cross-sectional questionnaire-based real-world study was conducted among 100 preconception and 200 pregnant women in Vietnam in January/February 2022. The questionnaire included a validated screening tool for HL (Newest Vital Sign [NVS]), and questions on preconception/pregnancy-related nutritional knowledge and behavior, prenatal supplementation, sources of nutritional advice. Results: Most respondents (62%) had limited HL and only 5% had adequate HL. Respondents with limited HL (NVS 0-1) showed less awareness of benefits of healthy eating before/during pregnancy, such as reduction in risk of birth defects. Most (94%) considered prenatal supplements beneficial, yet 64% were not convinced of supplement safety. The limited HL group reported the lowest use of supplements, including multivitamins, iron, and folic acid/folate. Conclusion: The prevalence of limited HL and the low awareness of preconception/pregnancy-related nutrition suggest an urgent need to invest in nutrition-specific education and improving HL in maternal populations. This will help support adequate maternal nutrition and appropriate micronutrient supplementation before conception and throughout the "first 1000 days" of life.

De novo variants of dominant monogenic disorders in Vietnam detected by a noninvasive prenatal test: a case series.

Background: Noninvasive prenatal tests for monogenic diseases (NIPT-SGG) have recently been reported as helpful in early-stage antenatal screening. Our study describes the clinical and genetic features of cases identified by NIPT-SGG. Materials & methods: In a cohort pregnancy with abnormal sonograms, affected cases were confirmed by invasive diagnostic tests concurrently, with NIPT-SGG targeting 25 common dominant single-gene diseases. Results: A total of 13 single-gene fetuses were confirmed, including Noonan and Costello syndromes, thanatophoric dysplasia, achondroplasia, osteogenesis imperfecta and Apert syndrome. Two novel variants seen were tuberous sclerosis complex (TSC2 c.4154G>A) and Alagille syndrome (JAG1 c.3452del). Conclusion: NIPT-SGG and standard tests agree on the results for 13 fetuses with monogenic disorders. This panel method of screening can benefit high-risk Vietnamese pregnancies, but further research is encouraged to expand on the causative gene panel.

Developing and validating noninvasive prenatal testing for de novo autosomal dominant monogenic diseases in Vietnam.

Background: Over 60% of single-gene diseases in newborns are autosomal dominant variants. Noninvasive prenatal testing for monogenic conditions (NIPT-SGG) is cost-effective and timesaving, but not widely applied. This study introduces and validates NIPT-SGG in detecting 25 monogenic conditions. Methods: NIPT-SGG with a 30-gene panel applied next-generation sequencing and trio assays to confirm de novo variants. Diagnostic tests confirmed NIPT-detected cases. Results: Among 93 pregnancies with ultrasound findings, 11 (11.8%) fetuses were screened and diagnosed with monogenic diseases, mostly with Noonan syndrome. NIPT-SGG determined >99.99% of actual positive and negative cases, confirmed by diagnostic tests. No false-negatives or false-positives were reported. Conclusion: NIPT-SGG effectively identifies the fetuses affected with monogenic diseases, which is a promisingly safe and timely antenatal screening option for high-risk pregnancies.

Using dinoprostone slow release vaginal insert for cervical ripening in term-pregnancy with oligohydramnios.

AIMS: The study purposed to evaluate the success rate of cervical ripening using dinoprostone controlled-release vaginal insert and reveal some factors relating to successful cervical ripening. METHODS: This cross-sectional study was conducted at Tu Du Hospital in Vietnam from December 2021 to August 2022. The study enrolled 200 pregnant women with gestational age ≥37 weeks diagnosed with oligohydramnios. These candidates underwent dinoprostone cervical ripening (DCR) according to the local protocol. The Bishop score ≥7 after 24 h was determined for the successful cervical ripening (SCR). RESULTS: In total, the success rate of DCR achieved at 57.5% and the cesarean delivery rate was 46.5%. None of the severe side-effects and complications was present. Using multivariable logistic regression, the study found that the body mass index ≥25 kg/m2 and oxytocin infusion drip related to SCR with adjusted odds ratio (aOR): 3.67 (95% confidence intervals [CI]: 1.78-7.57) and aOR: 4.68 (95% CI: 1.84-11.93), p < 0.001. Using the Kaplan-Meier curve, the present study revealed a significant difference between Bishop <3 and ≥3 following the duration time of cervical ripening, with hazard ratio: 1.38 (95% CI: 1.19-1.59), p < 0.001. The time duration of cervical ripening was not significantly different following amniotic fluid index from 3 to 5 cm. CONCLUSIONS: Cervical ripening using a dinoprostone vaginal insert is a potentially acceptable method in term pregnancy accompanying with oligohydramnios. The probability of SCR can be predicted on a careful assessment of relative factors by obstetricians. Further studies are required to strengthen these findings.

Detection of maternal carriers of common α-thalassemia deletions from cell-free DNA.

α-Thalassemia is a common inherited blood disorder manifested mainly by the deletions of α-globin genes. In geographical areas with high carrier frequencies, screening of α-thalassemia carrier state is therefore of vital importance. This study presents a novel method for identifying female carriers of common α-thalassemia deletions using samples routinely taken for non-invasive prenatal tests for screening of fetal chromosomal aneuploidies. A total of 68,885 Vietnamese pregnant women were recruited and α-thalassemia statuses were determined by gap-PCR, revealing 5344 women (7.76%) carried deletions including αα/--SEA (4.066%), αα/-α3.7 (2.934%), αα/-α4.2 (0.656%), and rare genotypes (0.102%). A two-stage model was built to predict these α-thalassemia deletions from targeted sequencing of the HBA gene cluster on maternal cfDNA. Our method achieved F1-scores of 97.14-99.55% for detecting the three common genotypes and 94.74% for detecting rare genotypes (-α3.7/-α4.2, αα/--THAI, -α3.7/--SEA, -α4.2/--SEA). Additionally, the positive predictive values were 100.00% for αα/αα, 99.29% for αα/--SEA, 94.87% for αα/-α3.7, and 96.51% for αα/-α4.2; and the negative predictive values were 97.63%, 99.99%, 99.99%, and 100.00%, respectively. As NIPT is increasingly adopted for pregnant women, utilizing cfDNA from NIPT to detect maternal carriers of common α-thalassemia deletions will be cost-effective and expand the benefits of NIPT.

Combined Gap-Polymerase Chain Reaction and Targeted Next-Generation Sequencing Improve α- and ß-Thalassemia Carrier Screening in Pregnant Women in Vietnam.

Vietnam has a high thalassemia burden. We collected blood samples from 5880 pregnant Vietnamese women during prenatal health checks to assess thalassemia carrier frequency using combined gap-polymerase chain reaction (gap-PCR) and targeted next-generation sequencing (NGS). Thalassemia carriers were identified with prevalence of 13.13% (772), including 7.82% (460) carriers of α-thalassemia (α-thal), 5.31% (312) carriers of ß-thalassemia (ß-thal), and 0.63% (37) concurrent α-/ß-thal carriers. Deletional mutations (368) accounted for 80.0% of α-thal carriers, of which, --SEA (Southeast Asian) (n = 254; 55.0%) was most prevalent, followed by the -α3.7 (rightward) (n = 66; 14.0%) and -α4.2 (leftward) (n = 45; 9.8%) deletions. Hb Westmead (HBA2: c.369C>G) (n = 53) and Hb Constant Spring (Hb CS or HBA2: c.427T>C) (in 28) are the two most common nondeletional α-globin variants, accounting for 11.5 and 6.0% of α-thal carriers. We detected 11 different ß-thal genotypes. Hb E (HBB: c.79G>A) (in 211) accounted for 67.6% of ß-thal carriers. The most common ß-thal genotypes were associated with mutations at codon 17 (A>T) (HBB: c.52A>T), codons 41/42 (-TTCT) (HBB: c.126_129delCTTT), and codon 71/72 (+A) (HBB: c.217_218insA) (prevalence 0.70%, 0.68%, and 0.2%, respectively). Based on mutation frequencies calculated in this study, estimates of 5021 babies in Vietnam are affected with clinically severe thalassemia annually. Our data suggest a higher thalassemia carrier frequency in Vietnam than previously reported. We established that combining NGS with gap-PCR creates an effective large-scale thalassemia screening method that can detect a broad range of mutations.

Massively parallel sequencing uncovered disease-associated variant spectra of glucose-6-phosphate dehydrogenase deficiency, phenylketonuria and galactosemia in Vietnamese pregnant women.

BACKGROUND: Several inherited metabolic diseases are underreported in Vietnam, namely glucose-6-phosphate dehydrogenase deficiency (G6PDd), phenylketonuria (PKU) and galactosemia (GAL). Whilst massively parallel sequencing (MPS) allows researchers to screen several loci simultaneously for pathogenic variants, no screening programme uses MPS to uncover the variant spectra of these diseases in the Vietnamese population. METHODS: Pregnant women (mean age of 32) from across Vietnam attending routine prenatal health checks agreed to participate and had their blood drawn. MPS was used to detect variants in their G6PD, PAH and GALT genes. RESULTS: Of 3259 women screened across Vietnam, 450 (13.8%) carried disease-associated variants for G6PD, PAH and GALT. The prevalence of carriers was 8.9% (291 of 3259) in G6PD and 4.6% (152 of 3259) in PKU, whilst GAL was low at 0.2% (7 of 3259). Two GALT variants, c.593 T > C and c.1034C > A, have rarely been reported. CONCLUSION: This study highlights the need for routine carrier screening, where women give blood whilst receiving routine prenatal care, in Vietnam. The use of MPS is suitable for screening multiple variants, allowing for identifying rare pathogenic variants. The data from our study will inform policymakers in constructing cost-effective genetic metabolic carrier screening programmes.

Effectiveness of progesterone supplementation in women presenting low progesterone levels on the day of frozen embryo transfer: a randomised controlled trial.

INTRODUCTION: Progesterone is an essential hormone involved in the process of implantation and pregnancy maintenance. Evidence from recent studies has supported the importance of serum progesterone level around the time of embryo transfer in hormonal replacement therapy frozen embryo transfer cycles and recommended the need for individualised luteal support. Low progesterone around the time of embryo transfer is found to be associated with decreased rate of pregnancy after frozen embryo transfer. This single-centre, longitudinal, randomised, interventional controlled study aims to compare the rate of ongoing pregnancy between two groups of women with progesterone level below 10 ng/mL on the day of frozen embryo transfer: the study group using 800 mg vaginal micronised progesterone supplemented with 50 mg intramuscular progesterone per day and the control group using only 800 mg vaginal micronised progesterone. METHODS AND ANALYSIS: We enrol patients who are undergoing frozen embryo transfers with blastocyst-stage or cleavage-stage embryos and who satisfy the inclusion and exclusion criteria. After signing the informed consent, participants are randomised into two groups: the study group using vaginal micronised progesterone supplemented with progesterone intramuscular 50 mg per day and the control group using only vaginal micronised progesterone. Randomisation will be performed using R software at a 1:1 allocation ratio. Sequentially numbered, opaque sealed envelopes are used for allocation. The primary outcome is the rate of ongoing pregnancy. To demonstrate a difference of 10% with regard to rate of ongoing pregnancy, at least 370 participants per arm are required (type I error α=0.05, power=0.8). Assuming a dropout rate of 10%, a total of 824 patients (412 per group) will be invited. ETHICS AND DISSEMINATION: This study was approved by the Ethics Committee of Tu Du Hospital on 17 May 2021 (reference number: 1251/QD-BVTD). All participants provide informed consent before being enrolled in the study. The results of our study will be submitted to reproductive medicine conferences and journals. TRIAL REGISTRATION NUMBER: NCT04897269.

Synthesis of Glue-Free NaA Zeolite Granules from Natural Kaolin for the Adsorption of Pb(II) Ions in Aqueous Solution Using a Fixed-Bed Column Study.

NaA zeolite-coated metakaolin granules (MKG@NaA) were successfully synthesized from kaolin mineral by primary growth in the hydrothermal reaction without using glue or a seed crystal. The XRD and SEM analysis results revealed that a layer of NaA zeolite with a typical cubic shape and high crystallinity formed on the surface of kaolin granules. The obtained material was used as an adsorbent for lead metal ion Pb(II) adsorption studies in a fixed-bed column configuration. The operation factors such as the solution inflow rate, Pb(II) concentration, and column height were investigated. The results showed that the adsorption capacity of the material increased with increasing column height and initial concentration of the influent and decreased with increasing flow rate. With the test parameters at the Pb(II) concentration of 100 mg·L-1, the adsorbent bed height of 8.1 cm, and the inflow rate of 2.5 mL·min-1, the lead ion adsorption capacity was 118.5 mg·g-1. The Thomas, Yoon-Nelson, and bed depth service time models were applied to describe the breakthrough curves for Pb(II) ion removal by a fix-bed column using the MKG@NaA absorbent and to predict the column performance under different experimental conditions with good linearity (R 2 > 0.95).

Intra-abdominal fetus in fetu presenting at 31 weeks gestational age.

Fetus in fetu (FIF) is a rare anomaly of diamniotic monochorionic twins, in which a malformed fetus resides in its twin's body. This report shows a case with the prenatal diagnosis of FIF at Tu Du hospital. A 23-year-old woman, first-time pregnant, presented at the hospital with an abdominal mass in the fetus at 31 weeks and 4 days of gestation. The ultrasound showed an abnormal mass with the images of calcified features located in the left hypochondriac region and the kidney's upper pole. These images had shapes of skull, femur, spine and became more apparent as the fetus grew. Then, the patient was monitored and delivered at our hospital. The infant was moved to the Children's Hospital 1 and diagnosed with FIF by ultrasound. The surgical resection was performed at 12 days of birth.

The management of hydatidiform mole using prophylactic chemotherapy and hysterectomy for high-risk patients decreased the incidence of gestational trophoblastic neoplasia in Vietnam: a retrospective observational study.

The management of hydatidiform mole (HM) and the incidence of post-molar gestational trophoblastic neoplasia (GTN) in Vietnam has not been reported to date. This study aimed to study the incidence of HM and post-molar GTN and identify factors associated with post-molar GTN at a tertiary hospital in Vietnam. Five hundred and eighty-four patients who were treated for HM at Tu Du Hospital between January and December 2010 were included in this study. The mean age and gestational age at the first evacuation were 28.8 years old and 11.0 weeks, respectively. After the initial evacuation and pathological examination, 87 patients who were older than 40 or did not wish to have children underwent a hysterectomy, while the others underwent second curettage. All 472 patients who had human chorionic gonadotropin (hCG) ≥ 100,000 IU/L before treatment received one cycle of methotrexate with folinic acid as prophylactic chemotherapy. The incidence of HM was 11.1 per 1,000 deliveries; 47 patients (8.0%) developed post-molar GTN. Gestational week, hCG level at one week after the first evacuation, and pathological remnants were significantly associated with the development of post-molar GTN. The results of this study suggest that prophylactic chemotherapy and hysterectomy may be useful for high-risk HM patients to reduce post-molar GTN in settings in which the risk of post-molar GTN and loss to follow-up after HM are greater and hCG measurements and appropriate GTN treatments are unavailable. However, future studies on the long-term outcomes and side effects of prophylactic therapies on HM are required.

Gelless Secondary Growth of Zeolitic Aluminophosphate Membranes on Porous Supports with High Performance in CO2 /CH4 Separation.

Zeolitic aluminophosphate, a three-dimensional microporous material, with an average pore size of 0.38 nm is good candidate for molecular sieve application in CO2 gas separation. The separation of CO2 /CH4 gas mixtures for precombustion processes is desirable from the standpoint of both environmental concerns and energy efficiency. This study concerns an environmentally friendly method to synthesize zeolitic aluminophosphate thin films on various configurations and low-cost kaolin porous substrates with high performance in the separation of CO2 /CH4 mixtures. The membranes are prepared by a gelless seed growth method that uses lower amounts of chemicals, forms no liquid gel, chemical waste, or byproducts and generates no washing water. The obtained membranes show very high selectivity for CO2 with a CO2 /CH4 separation factor above 1000 in the separation of CO2 /CH4 gas mixtures.

Human papillomavirus type distribution in invasive cervical cancer and high-grade cervical intraepithelial neoplasia across 5 countries in Asia.

OBJECTIVE: Independent, prospective, multicenter, hospital-based cross-sectional studies were conducted across 5 countries in Asia, namely, Malaysia, Vietnam, Singapore, South Korea, and the Philippines. The objectives of these studies were to evaluate the prevalence of human papillomavirus (HPV) types (high risk and others including coinfections) in women with invasive cervical cancer (ICC) and high-grade precancerous lesions. METHODS: Women older than 21 years with a histologic diagnosis of ICC and cervical intraepithelial neoplasia [CIN 2 or 3 and adenocarcinoma in situ (AIS)] were enrolled. Cervical specimens were reviewed by histopathologists to confirm the presence of ICC or CIN 2/3/AIS lesion and tested with short PCR fragment 10-DNA enzyme immunoassay-line probe assay for 14 oncogenic HPV types and 11 non-oncogenic HPV types. The prevalence of HPV 16, HPV 18, and other high-risk HPV types in ICC [including squamous cell carcinoma (SCC) and adenocarcinoma/adenosquamous carcinoma (ADC/ASC)] and CIN 2/3/AIS was estimated. RESULTS: In the 5 Asian countries, diagnosis of ICC was confirmed in 500 women [SCC (n = 392) and ADC/ASC (n = 108)], and CIN 2/3/AIS, in 411 women. Human papillomavirus DNA was detected in 93.8% to 97.0% (84.5% for the Philippines) of confirmed ICC cases [94.0%-98.7% of SCC; 87.0%-94.3% (50.0% for the Philippines) of ADC/ASC] and in 93.7% to 100.0% of CIN 2/3/AIS. The most common types observed among ICC cases were HPV 16 (36.8%-61.3%), HPV 18 (12.9%-35.4%), HPV 52 (5.4%-10.3%), and HPV 45 (1.5%-17.2%), whereas among CIN 2/3/AIS cases, HPV 16 (29.7%-46.6%) was the most commonly observed type followed by HPV 52 (17.0%-66.7%) and HPV 58 (8.6%-16.0%). CONCLUSIONS: This article presents the data on the HPV prevalence, HPV type distribution, and their role in cervical carcinogenesis in 5 Asian countries. These data are of relevance to public health authorities for evaluating the existing and future cervical cancer prevention strategies including HPV-DNA testing-based screening and HPV vaccination in these Asian populations.

Therapeutic approaches for uterine fibroma

There is about 30% of women experienced uterine fibroma and most of them needn’t treatment. For symptomatic women, various medical treatments were more and more extensive. Surgical treatments were indicated depending on many factors and individual patient. Besides traditional therapies (myomectomy, hysteroscopic myomectomy, uterine endoscopy, etc), there were more and more new techniques such as uterine artery embolization. This technique is relative new and minimal invasive of management, but it still needs further research

The efficacy of laparoscopic surgery for patients with tubal factor infertility

Survey 140 patients with tubal factor infertility at Tu Du Hospital from 2002 to 2003. Intrauterine pregnancy rate was 19.3% and ectopic pregnancy rate was 9.3%. Patient’s age is one of factors influencing the outcome of laparoscopic surgery. The elder patients are, the lower pregnancy rate they get (for patients over 35 years old, pregnancy rate is as low as 4%). The level of tubal damage and adhesion are also influencing factors for rate of intrauterine pregnancy. The more severe damage and adhesion patients had, the lower pregnancy rate they get. The prognosis of tubal factor infertility was highly associated with the level of tubal damage and patient’s age. Laparoscopic surgery for tubal obstruction is only effective for cases with mild or moderate lesion. For elder cases over 35 years old or severe tubal damage, IVF-ET should be indicated