Displaying publications 41 - 60 of 64 in total

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  1. Wong LP, George E, Tan JA
    J Community Genet, 2011 Jun;2(2):71-9.
    PMID: 22109791 DOI: 10.1007/s12687-011-0039-z
    Hemoglobin disorders which include thalassemias are the most common heritable disorders. Effective treatment is available, and these disorders can be avoided as identification of carriers is achievable using simple hematological tests. An in-depth understanding of the awareness, attitudes, perceptions, and screening reservations towards thalassemia is necessary, as Malaysia has a multi-ethnic population with different religious beliefs. A total of 13 focus group discussions (70 participants) with members of the general lay public were conducted between November 2008 and January 2009. Lack of knowledge and understanding about thalassemia leads to general confusions over differences between thalassemia carriers and thalassemia major, inheritance patterns, and the physical and psychologically impact of the disorder in affected individuals and their families. Although most of the participants have not been tested for thalassemia, a large majority expressed willingness to be screened. Views on prenatal diagnosis and termination of fetuses with thalassemia major received mixed opinions from participants with different religions and practices. Perceived stigma and discrimination attached to being a carrier emerged as a vital topic in some group discussions where disparity in the answers exhibited differences in levels of participants' literacy and ethnic origins. The two most common needs identified from the discussion were information and screening facilities. Participants' interest in knowing the severity of the disease and assessing their risk of getting the disorder may imply the health belief model as a possible means of predicting thalassemia public screening services. Findings provide valuable insights for the development of more effective educational, screening, and prenatal diagnostic services in the multi-ethnic Asian society.
    Matched MeSH terms: Prenatal Diagnosis
  2. Md Noh MSF, Abdul Rashid AM, Abdul Rahim E
    J Bronchology Interv Pulmonol, 2018 07;25(3):e30-e32.
    PMID: 29944591 DOI: 10.1097/LBR.0000000000000456
    Matched MeSH terms: Prenatal Diagnosis*
  3. Olesen A, Nor SN, Amin L
    J Bioeth Inq, 2016 Sep;13(3):419-29.
    PMID: 27365102 DOI: 10.1007/s11673-016-9724-2
    Pre-Implantation Genetic Diagnosis (PGD) represents the first fusion of genomics and assisted reproduction and the first reproductive technology that allows prospective parents to screen and select the genetic characteristics of their potential offspring. However, for some, the idea that we can intervene in the mechanisms of human existence at such a fundamental level can be, at a minimum, worrying and, at most, repugnant. Religious doctrines particularly are likely to collide with the rapidly advancing capability for science to make such interventions. This paper focuses on opinions and arguments of selected religious scholars regarding ethical issues pertaining to PGD. In-depth interviews were conducted with religious scholars from three different religious organizations in the Klang Valley, Malaysia. Findings showed that Christian scholars are very sceptical of the long-term use of PGD because of its possible effect on the value of humanity and the parent-children relationship. This differs from Islamic scholars, who view PGD as God-given knowledge in medical science to further help humans understand medical genetics. For Buddhist scholars, PGD is considered to be new medical technology that can be used to save lives, avoid suffering, and bring happiness to those who need it. Our results suggest that it is important to include the opinions and views of religious scholars when it comes to new medical technologies such as PGD, as their opinions will have a significant impact on people from various faiths, particularly in a multi-religious country like Malaysia where society places high value on marital relationships and on the traditional concepts of family.
    Matched MeSH terms: Prenatal Diagnosis/ethics*
  4. Zhong Q, Gelaye B, Rondon M, Sánchez SE, García PJ, Sánchez E, et al.
    J Affect Disord, 2014 Jun;162:1-7.
    PMID: 24766996 DOI: 10.1016/j.jad.2014.03.028
    OBJECTIVE: We sought to evaluate the psychometric properties of two widely used screening scales: the Patient Health Questionnaire (PHQ-9) and Edinburgh Postnatal Depression Scale (EPDS) among pregnant Peruvian women.
    METHODS: This cross-sectional study included 1517 women receiving prenatal care from February 2012 to March 2013. A structured interview was used to collect data using PHQ-9 and EPDS. We examined reliability, construct and concurrent validity between two scales using internal consistency indices, factor structures, correlations, and Cohen׳s kappa.
    RESULTS: Both scales had good internal consistency (Cronbach׳s alpha>0.8). Correlation between PHQ-9 and EPDS scores was fair (rho=0.52). Based on exploratory factor analysis (EFA), both scales yielded a two-factor structure. EFA including all items from PHQ-9 and EPDS yielded four factors, namely, "somatization", "depression and suicidal ideation", "anxiety and depression", and "anhedonia". The agreement between the two scales was generally fair at different cutoff scores with the highest Cohen׳s kappa being 0.46.
    CONCLUSIONS: Both the PHQ-9 and EPDS are reliable and valid scales for antepartum depression assessment. The PHQ-9 captures somatic symptoms, while EPDS detects depressive symptoms comorbid with anxiety during early pregnancy. Our findings suggest simultaneous administration of both scales may improve identification of antepartum depressive disorders in clinical settings.
    Matched MeSH terms: Prenatal Diagnosis/methods*
  5. Mohd Faizal, A., Vijayan, V., Sandhya, M.M., Noor Shahieddah, F., Vinod, S., Tan, L.K., et al.
    MyJurnal
    The EXIT (Ex utero intrapartum treatment) procedures have been, with a high degree of success, employed to treat a myriad types of fetal airway obstruction most commonly neck masses such as cystic hygroma and lymphangioma with ample plan including prenatal diagnosis by ultrasound scan or MRI. Before the advent of EXIT, formal documentations had been published with descriptions of intubation during intrapartum period and fetal airway protection either during normal or operative delivery. We report a 28-year-old gravida 2 para 1 who was referred to our Maternal Fetal Medicine (MFM) unit at 26 weeks and 3 days gestation with a foetal neck mass. We present a case of an successful EXIT procedure performed in the Lloyd Davies position with the hips abducted and flexed at 15 degrees as is employed during gynecologic laparoscopy surgery minus the Trendelenburg tilt. Both mother and baby are well. The benefits of this position are discussed.
    Matched MeSH terms: Prenatal Diagnosis
  6. Chan WF, Sinnathuray TA, Rahman MG
    Int Surg, 1973 Nov-Dec;58(11):784-6.
    PMID: 4796092
    Matched MeSH terms: Prenatal Diagnosis
  7. Zhang L, Tao Y, Woodring J, Rattana K, Sovannarith S, Rathavy T, et al.
    Int J Epidemiol, 2019 08 01;48(4):1327-1339.
    PMID: 30879066 DOI: 10.1093/ije/dyz037
    BACKGROUND: The Regional Framework for Triple Elimination of Mother-to-Child Transmission (EMTCT) of HIV, Hepatitis B (HBV) and Syphilis in Asia and the Pacific 2018-30 was endorsed by the Regional Committee of WHO Western Pacific in October 2017, proposing an integrated and coordinated approach to achieve elimination in an efficient, coordinated and sustainable manner. This study aims to assess the population impacts and cost-effectiveness of this integrated approach in the Cambodian context.

    METHODS: Based on existing frameworks for the EMTCT for each individual infection, an integrated framework that combines infection prevention procedures with routine antenatal care was constructed. Using decision tree analyses, population impacts, cost-effectiveness and the potential reduction in required resources of the integrated approach as a result of resource pooling and improvements in service coverage and coordination, were evaluated. The tool was assessed using simulated epidemiological data from Cambodia.

    RESULTS: The current prevention programme for 370,000 Cambodian pregnant women was estimated at USD$2.3 ($2.0-$2.5) million per year, including the duration of pregnancy and up to 18 months after delivery. A model estimate of current MTCT rates in Cambodia was 6.6% (6.2-7.1%) for HIV, 14.1% (13.1-15.2%) for HBV and 9.4% (9.0-9.8%) for syphilis. Integrating HIV and syphilis prevention into the existing antenatal care framework will reduce the total time required to provide this integrated care by 19% for health care workers and by 32% for pregnant women, resulting in a net saving of $380,000 per year for the EMTCT programme. This integrated approach reduces HIV and HBV MTCT to 6.1% (5.7-6.5%) and 13.0% (12.1-14.0%), respectively, and substantially reduces syphilis MCTC to 4.6% (4.3-5.0%). Further introduction of either antiviral treatment for pregnant women with high viral load of HBV, or hepatitis B immunoglobulin (HBIG) to exposed newborns, will increase the total cost of EMTCT to $4.4 ($3.6-$5.2) million and $3.3 ($2.7-$4.0) million per year, respectively, but substantially reduce HBV MTCT to 3.5% (3.2-3.8%) and 5.0% (4.6-5.5%), respectively. Combining both antiviral and HBIG treatments will further reduce HBV MTCT to 3.4% (3.1-3.7%) at an increased total cost of EMTCT of $4.5 ($3.7-$5.4) million per year. All these HBV intervention scenarios are highly cost-effective ($64-$114 per disability-adjusted life years averted) when the life benefits of these prevention measures are considered.

    CONCLUSIONS: The integrated approach, using antenatal, perinatal and postnatal care as a platform in Cambodia for triple EMTCT of HIV, HBV and syphilis, is highly cost-effective and efficient.

    Matched MeSH terms: Prenatal Diagnosis/statistics & numerical data
  8. Ahmad WA, Khanom M, Yaakob ZH
    Int J Clin Pract, 2011 Aug;65(8):848-51.
    PMID: 21762308 DOI: 10.1111/j.1742-1241.2011.02714.x
    The treatment of heart failure in pregnant women is more difficult than in non-pregnant women, and should always involve a multidisciplinary team approach. Knowledge required includes hemodynamic changes in pregnancy and the resultant effect on women with pre-existing or pregnancy-related cardiovascular disease, cardiovascular drugs in pregnancy, ethical issues and challenges regarding saving mother and baby. In addition, women having high risk cardiac lesions should be counselled strongly against pregnancy and followed up regularly. Pregnancy with heart failure is an important issue, demanding more comprehensive studies.
    Matched MeSH terms: Prenatal Diagnosis/methods
  9. Nazimah, I., Noor Sham, Y.L., Khairun Niza, C.N., Mohd Ikhsan, S., Nadzratulaiman, N., Juliana, Y.
    MyJurnal
    Objective: To evaluate the factors that contributes to the decision for termination of pregnancy in prenatally diagnosed fetal anomaly cases.
    Methods: A retrospective analysis of all cases of prenatally diagnosed fetal anomaly who delivered between 1 January 2007 and 30 June 2009 in two tertiary hospitals in Malaysia.
    Results: A total of seventy-two (72) prenatally diagnosed pregnancies with fetal anomalies were identified. Mean maternal age was 29.8 ± 5.5 years and mean parity 1.47 ± 1.8. 70.8% of patients were ethnic Malay, 15.3% Chinese and 12.5% ethnic Indian. 22 (30.6%) fetuses were lethally abnormal. The overall pregnancy termination rate was 29.2%. 50% of pregnancies with lethally abnormal fetuses were terminated compared to 20% of pregnancies with non-lethal abnormality (p
    Matched MeSH terms: Prenatal Diagnosis
  10. Hsu CH, Langdown J, Lynn R, Fisher C, Rose A, Proven M, et al.
    Hemoglobin, 2018 May;42(3):199-202.
    PMID: 30328734 DOI: 10.1080/03630269.2018.1513849
    We report a novel hemoglobin (Hb) variant with a β chain amino acid substitution at codon 78 (CTG>CCG) (HBB: c.236T>C), detected through prenatal screening via capillary electrophoresis (CE) in an otherwise healthy and asymptomatic 38-year-old female of Southeast Asian ancestry. The variant, named Hb Penang after the proband's Malaysian city of origin, underwent further characterization through high performance liquid chromatography (HPLC), reversed phase HPLC, Sanger sequencing, isopropanol stability testing and isoelectric focusing (IEF).
    Matched MeSH terms: Prenatal Diagnosis*
  11. Tan KL, Tan JA, Wong YC, Wee YC, Thong MK, Yap SF
    Genet. Test., 2001;5(1):17-22.
    PMID: 11336396 DOI: 10.1089/109065701750168626
    Beta-thalassemia major patients have chronic anemia and are dependent on blood transfusions to sustain life. Molecular characterization and prenatal diagnosis of beta3-thalassemia is essential in Malaysia because about 4.5% of the population are heterozygous carriers for beta-thalassemia. The high percentage of compound heterozygosity (47.62%) found in beta-thalassemia major patients in the Thalassaemia Registry, University of Malaya Medical Centre (UMMC), Malaysia, also supports a need for rapid, economical, and sensitive protocols for the detection of beta-thalassemia mutations. Molecular characterization of beta-thalassemia mutations in Malaysia is currently carried out using ARMS, which detects a single beta-thalassemia mutation per PCR reaction. We developed and evaluated Combine amplification refractory mutation system (C-ARMS) techniques for efficient molecular detection of two to three beta-thalassemia mutations in a single PCR reaction. Three C-ARMS protocols were evaluated and established for molecular characterization of common beta-thalassemia mutations in the Malay and Chinese ethnic groups in Malaysia. Two C-ARMS protocols (cd 41-42/IVSII #654 and -29/cd 71-72) detected the beta-thalassemia mutations in 74.98% of the Chinese patients studied. The CARMS for cd 41-42/IVSII #654 detected beta-thalassemia mutations in 72% of the Chinese families. C-ARMS for cd 41-42/IVSI #5/cd 17 allowed detection of beta-thalassemia mutations in 36.53% of beta-thalassemia in the Malay patients. C-ARMS for cd 41-42/IVSI #5/cd 17 detected beta-thalassemia in 45.54% of the Chinese patients. We conclude that C-ARMS with the ability to detect two to three mutations in a single reaction provides more rapid and cost-effective protocols for beta-thalassemia prenatal diagnosis and molecular analysis programs in Malaysia.
    Matched MeSH terms: Prenatal Diagnosis/economics; Prenatal Diagnosis/methods
  12. Wong HB
    Family Practitioner, 1984;7:87-92.
    Matched MeSH terms: Prenatal Diagnosis
  13. George-Kodiseri E, Faridah K
    Family Physician, 1991;3(1):25-27.
    Haemoglobin Bart's hydrops fetalis syndrome is totally lethal. Globin chain electrophoresis on mylar backed cellulose acetate strips, by a method modified from Ueda and Schneider has been established to demonstrate total absence of alpha chains in this syndrome. This simple test can identify fetuses, stillbirths and newborns with homozygous αo-thalassaemia. In this region where DNA studies are limited, and prenatal diagnosis is unavailable, this test which describes the phenotypic expression of Hb Bart's syndrome will improve genetic counselling of women at risk of homozygous αo-thalassaemia.
    Matched MeSH terms: Prenatal Diagnosis
  14. Zakaria WNA, Yoon SY, Wijaya A, Ahmad AH, Zakaria R, Othman Z
    Eur J Hum Genet, 2023 Oct;31(10):1181-1184.
    PMID: 37142766 DOI: 10.1038/s41431-023-01371-3
    This article seeks to highlight the most recent trends and themes in genetic counseling that are of broad interest. A total of 3505 documents were published between 1952 and 2021, with a trend toward increase in paper/year. The most common documents are original articles (2515, 71.8%), followed by review articles (341, 9.7%). Journal of Genetic Counseling publishes the highest number of genetic counseling articles (587, 16.7%), followed by Clinical Genetics (103, 2.9%) and the South American Journal of Medical Genetics (95, 2.7%). Co-occurrence analysis revealed five research themes: genetic testing, cancer, genetic counselor, prenatal diagnosis, and psychiatry. The genetic counselor theme contained most of the recent keywords, including "covid-19," "underrepresented population," "service delivery models," "workforce," "disparities," "service delivery," "professional development," "cultural competence," "access," "diversity," "telemedicine," and "health literacy." Genetic counseling researchers may use these keywords to find topics pertinent to their future research and practice.
    Matched MeSH terms: Prenatal Diagnosis
  15. Wee YC, Tan KL, Kuldip K, Tai KS, George E, Tan PC, et al.
    Community Genet, 2008;11(3):129-34.
    PMID: 18376108 DOI: 10.1159/000113874
    BACKGROUND/AIMS: Individuals with double heterozygosity for alpha- and beta-thalassaemia and heterozygous beta-thalassaemia show a similar haematological picture. Co-inheritance of alpha- and beta-thalassaemia in both partners may result in pregnancies with either Hb Bart's hydrops foetalis or beta-thalassaemia major, or pregnancies with both disorders.
    METHODS: The co-inheritance of alpha-thalassaemia in 322 beta-thalassaemia carriers in Malaysia was studied.
    RESULTS: The frequency of alpha-thalassaemia in the beta-thalassaemia carriers was 12.7% (41/322), with a carrier frequency of 7.8% for the SEA deletion, 3.7% for the -alpha(3.7) deletion, 0.9% for Hb Constant Spring and 0.3% for the -alpha(4.2) deletion.
    CONCLUSION: Double heterozygosity for alpha- and beta-thalassaemia was confirmed in 5 out of the 41 couples and the risk of the fatal condition Hb Bart's hydrops foetalis was confirmed in two of these couples. Detection of the Southeast Asian (SEA) deletion in the Malaysian Malays in this study confirms that Hb Bart's hydrops foetalis can occur in this ethnic group. Results of this study have provided new information on the frequency and different types of alpha-thalassaemia (--(SEA), -alpha(3.7) and -alpha(4.2) deletions, Hb Constant Spring) in Malaysian beta-thalassaemia carriers.
    Matched MeSH terms: Prenatal Diagnosis
  16. Tan JA, George E, Tan KL, Chow T, Tan PC, Hassan J, et al.
    Clin Exp Med, 2004 Dec;4(3):142-7.
    PMID: 15599663 DOI: 10.1007/s10238-004-0048-x
    Beta-thalassemia is the most-common genetic disorder of hemoglobin synthesis in Malaysia, and about 4.5% of the population are heterozygous carriers of the disorder. Prenatal diagnosis was performed for 96 couples using the Amplification Refractory Mutation System and Gap-Polymerase Chain Reaction. We identified 17 beta-globin defects-initiation codon for translation (T-G), -29 (A-G), -28 (A-G), CAP +1 (A-C), CD 8/9 (+G), CD 15 (G-A), CD 17 (A-T), CD 19 (A-G), Hb E (G-A), IVS1-1 (G-T), IVS1-5 (G-C), CD 41/42 (-CTTT), CD 71-72 (+A), IVS2-654 (CT), poly A(A-G), 100-kb Ggamma(Agammadeltabeta) degrees and 45-kb Filipino deletions. The 192 beta-alleles studied comprised Chinese (151 patients), Malay (21), Orang Asli from East Malaysia (15), Filipino (1), Indian (1), Indonesian Chinese (2), and Thai (1). In the Chinese, 2 beta-globin defects at CD 41/42 and IVS2-654 were responsible for 74% of beta-thalassemia. beta-mutations at CD 19, IVS1-1 (G-T), IVS1-5, poly A, and hemoglobin E caused 76% of the hemoglobin disorders in the Malays. The Filipino 45-kb deletion caused 73.3% of bthalassemia in the Orang Asli. Using genomic sequencing, the rare Chinese beta-mutation at CD 43 (G-T) was confirmed in 2 Chinese, and the Mediterranean mutation IVS1-1 (G-A) was observed in a Malay beta-thalassemia carrier. The beta-globin mutations confirmed in this prenatal diagnosis study were heterogenous and 65 (68%) couples showed a different globin defect from each other. The use of specific molecular protocols has allowed rapid and successful prenatal diagnosis of beta-thalassemia in Malaysia.
    Matched MeSH terms: Prenatal Diagnosis*
  17. Karuppiah, Thilakavathy, Jammal Ahmad Essa, Rozita Rosli
    MyJurnal
    Smaller family size and advancing parental age have increased the demand for prenatal diagnosis.
    Prenatal cytogenetic diagnoses currently used, such as amniocentesis and chorionic villus
    sampling, are usually not preferred by the expectant couples due to the risk imposed on the mother and child. High false positive rates (5%) of current non-invasive screening methods, such as serum analysts or ultrasound, cause a large number of unnecessary invasive practices to be performed, which apart from the associated risk, place considerable psychological distress on the couples
    involved (Wald et al., 1999). (Copied from article).
    Matched MeSH terms: Prenatal Diagnosis
  18. Sivanathan J, Thilaganathan B
    PMID: 28456373 DOI: 10.1016/j.bpobgyn.2017.03.005
    Prenatal diagnosis is a rapidly evolving speciality. Screening for aneuploidy begins with non-sonographic features of background risk of maternal age and past and family history. It is possible to diagnose major structural defects in the foetus using second trimester scans. Serum biochemistry markers in the early second trimester were added to increase the detection rate of aneuploidy. However, as some of these abnormalities were amenable to detection earlier in the first trimester, newer modalities were introduced. Nuchal translucency (NT) measurement was one of the main advances with regard to first trimester screening. Additional markers such as the presence of nasal bone, tricuspid regurgitation, ductus venosus and megacystis; together with first trimester serum biochemistry, further enhanced the detection rate of chromosomal abnormalities. Advances in research and technology have resulted in the availability of non-invasive prenatal testing from 10 weeks of gestation. This has facilitated the detection of the three major chromosomal aneuploidies at very early gestation. However, there are a wide range of genetic syndromes that are not confined to the main trisomies. There are specific markers on ultrasound that can be linked to specific syndromes. Hence, a structured and stepwise approach is needed to identify and reach a possible diagnosis. As anomalies are classified into malformations, deformations and disruptions, it is important to note that not all markers detected are due to genetic syndromes and not all genetic syndromes can be detected on ultrasound scan. In this chapter, we outline common structural markers and their association with main genetic syndromes.
    Matched MeSH terms: Prenatal Diagnosis/methods*
  19. Chen JJ, Tan JA, Chua KH, Tan PC, George E
    BMJ Open, 2015 Jul 22;5(7):e007648.
    PMID: 26201722 DOI: 10.1136/bmjopen-2015-007648
    OBJECTIVES: Single nucleotide polymorphism (SNP) with a mutation can be used to identify the presence of the paternally-inherited wild-type or mutant allele as result of the inheritance of either allele in the fetus and allows the prediction of the fetal genotype. This study aims to identify paternal SNPs located at the flanking regions upstream or downstream from the β-globin gene mutations at CD41/42 (HBB:c.127_130delCTTT), IVS1-5 (HBB:c.92+5G>C) and IVS2-654 (HBB:c.316-197C>T) using free-circulating fetal DNA.

    SETTING: Haematology Lab, Department of Biomedical Science, University of Malaya.

    PARTICIPANTS: Eight couples characterised as β-thalassaemia carriers where both partners posed the same β-globin gene mutations at CD41/42, IVS1-5 and IVS2-654, were recruited in this study.

    OUTCOME MEASURES: Genotyping was performed by allele specific-PCR and the locations of SNPs were identified after sequencing alignment.

    RESULTS: Genotype analysis revealed that at least one paternal SNP was present for each of the couples. Amplification on free-circulating DNA revealed that the paternal mutant allele of SNP was present in three fcDNA. Thus, the fetuses may be β-thalassaemia carriers or β-thalassaemia major. Paternal wild-type alleles of SNP were present in the remaining five fcDNA samples, thus indicating that the fetal genotypes would not be homozygous mutants.

    CONCLUSIONS: This preliminary research demonstrates that paternal allele of SNP can be used as a non-invasive prenatal diagnosis approach for at-risk couples to determine the β-thalassaemia status of the fetus.

    Matched MeSH terms: Prenatal Diagnosis/methods*
  20. Abdullah H, Abdul Wahab N, Abu Bakar K
    BMJ Case Rep, 2017 Jun 13;2017.
    PMID: 28611167 DOI: 10.1136/bcr-2017-219793
    Matched MeSH terms: Prenatal Diagnosis/methods*
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