Displaying publications 1 - 20 of 65 in total

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  1. Wong HB
    Family Practitioner, 1984;7:87-92.
    Matched MeSH terms: Prenatal Diagnosis
  2. Tan PE
    Malays J Pathol, 1988 Aug;10:79-83.
    PMID: 3252083
    Matched MeSH terms: Prenatal Diagnosis*
  3. Afzal M, Singh J, Ong SK
    Med J Malaysia, 1983 Mar;38(1):47-50.
    PMID: 6633336
    Thanatophoric dwarfism is a severe form of neonatal shortlimbed skeletal dysplasia. Most infants are stillborn or die soon after birth. This disorder has well defined radiological features which distinguish it from the other forms of neonatal dwarfism. We report two cases where short limbs were detected on sonography and a diagnosis was made on antenatal radiographs and fetography.
    Matched MeSH terms: Prenatal Diagnosis*
  4. Raman S, Tai C, Neoh HS
    Med J Malaysia, 1991 Dec;46(4):314-9.
    PMID: 1840438
    Matched MeSH terms: Prenatal Diagnosis
  5. Thong MK, Ngim CF
    N Engl J Med, 2021 Jun 03;384(22):2165.
    PMID: 34077655 DOI: 10.1056/NEJMc2105064
    Matched MeSH terms: Prenatal Diagnosis
  6. Sofiah S, Fung YC
    Med J Malaysia, 2009 Dec;64(4):298-302.
    PMID: 20954554 MyJurnal
    The aim of this study is to evaluate the clinical risk factors, accuracy of antenatal ultrasound for diagnosis, and the effect of these on pregnancy outcome. It is a retrospective study looking at cases which had hysterectomy following vaginal or caesarean section deliveries from 1993 to 2005. Data regarding the maternal demographic characteristics, number of previous CS, number of previous termination/curettage, antenatal scan findings (state features) and the gestation at which accreta was first suspected/diagnosed, MRI scan findings, pregnancy outcome (need for hysterectomy, amount of blood loss, amount of transfusion, length of ICU and hospital stay, other maternal complications, and neonatal outcome) were collected and evaluated. There were a total of 40 cases diagnosed to have abnormal placental attachment and majority of these were actually diagnosed antenatally by sonography. Visualisation of an absence or thinning of hypoechoic myometrial zone had the highest sensitivity to detect placenta accreta followed by intraplacental lacunae, focal mass tissue elevation and disruption of uterine serosal bladder wall.
    Matched MeSH terms: Prenatal Diagnosis*
  7. Ariffin H, Millar DS, Cooper DN, Chow T, Lin HP
    J Pediatr Hematol Oncol, 2003 May;25(5):418-20.
    PMID: 12759632
    A nonconsanguineous asymptomatic couple, were identified as carriers of factor VII (FVII) deficiency when two of their newborn children died of massive intracranial hemorrhage secondary to severe congenital FVII deficiency. Complete sequence analysis of the factor VII (F7) gene in this couple indicated that the mother was heterozygous for an A to G transition at position -2 of the exon 5 acceptor splice site, and the father was heterozygous for a G to T transversion at position +1 of the exon 6 donor splice site. This information allowed us to exclude a compound heterozygous deficiency state in a subsequent pregnancy using PCR/direct sequencing of the F7 gene using DNA obtained from chorionic villi at 10 weeks' gestation. Our experience with the family reported here further supports the conclusion that mutation-specific detection is reliable in the prenatal exclusion of severe bleeding disorders.
    Matched MeSH terms: Prenatal Diagnosis*
  8. Raman S, Kuppuvelumani P, Menaka H
    Med J Malaysia, 1991 Mar;46(1):110-3.
    PMID: 1836033
    The relevant investigations and management of a case of alpha-thalassaemia major suspected antenatally is discussed. The value of ultrasonically guided cordocentesis in the definite diagnosis of this condition is emphasised in the management of this pregnancy. We believe that this is the first time such a procedure has been done in this country.
    Matched MeSH terms: Prenatal Diagnosis/methods*
  9. Yew CW
    Med J Malaysia, 1977 Mar;31(3):232-5.
    PMID: 904518
    Matched MeSH terms: Prenatal Diagnosis*
  10. 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*
  11. Musallam KM, Lombard L, Kistler KD, Arregui M, Gilroy KS, Chamberlain C, et al.
    Am J Hematol, 2023 Sep;98(9):1436-1451.
    PMID: 37357829 DOI: 10.1002/ajh.27006
    This systematic literature review assessed the global prevalence and birth prevalence of clinically significant forms of alpha- and beta-thalassemia. Embase, MEDLINE, and the Cochrane Library were searched for observational studies published January 1, 2000, to September 21, 2021. Of 2093 unique records identified, 69 studies reported across 70 publications met eligibility criteria, including 6 records identified from bibliography searches. Thalassemia prevalence estimates varied across countries and even within countries. Across 23 population-based studies reporting clinically significant alpha-thalassemia (e.g., hemoglobin H disease and hemoglobin Bart's hydrops fetalis) and/or beta-thalassemia (beta-thalassemia intermedia, major, and/or hemoglobin E/beta-thalassemia), prevalence estimates per 100 000 people ranged from 0.2 in Spain (over 2014-2017) to 27.2 in Greece (2010-2015) for combined beta- plus alpha-thalassemia; from 0.03 in Spain (2014-2017) to 4.5 in Malaysia (2007-2018) for alpha-thalassemia; and from 0.2 in Spain (2014-2017) to 35.7 to 49.6 in Iraq (2003-2018) for beta-thalassemia. Overall, the estimated prevalence of thalassemia followed the predicted pattern of being higher in the Middle East, Asia, and Mediterranean than in Europe or North America. However, population-based prevalence estimates were not found for many countries, and there was heterogeneity in case definitions, diagnostic methodology, type of thalassemia reported, and details on transfusion requirements. Limited population-based birth prevalence data were found. Twenty-seven studies reported thalassemia prevalence from non-population-based samples. Results from such studies likely do not have countrywide generalizability as they tended to be from highly specific groups. To fully understand the global prevalence of thalassemia, up-to-date, population-based epidemiological data are needed for many countries.
    Matched MeSH terms: Prenatal Diagnosis/methods
  12. 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
  13. Wee YC, Tan KL, Tan PC, Yap SF, Tan JAMA
    Med J Malaysia, 2005 Oct;60(4):447-53.
    PMID: 16570706
    Haemoglobin Bart's hydrops foetalis syndrome (--SEA/--SEA) is not compatible with life and contributes to a majority of the hydropic foetuses in the Malaysian Chinese alpha-thalassaemia carriers who possess the 2-alpha-gene deletion in cis (--SEA/alphaalpha). A duplex-PCR which simultaneously amplifies a normal 136 bp sequence between the psialpha-alpha2-globin genes and a 730 bp Southeast Asian deletion-specific sequence (--SEA) between the psialpha2-theta1-globin genes was established. The duplex-PCR which detects the --SEA deletion in both chromosomes serves as a rapid and cost-effective confirmatory test in the antenatal diagnosis of Haemoglobin Bart's hydrops foetalis syndrome in Malaysia. In addition, the duplex-PCR is simple to perform as both the normal and deletion-specific alpha-globin gene sequences are amplified in the same PCR reaction.
    Matched MeSH terms: Prenatal Diagnosis/economics; Prenatal Diagnosis/methods*
  14. 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
  15. Valayatham V, Subramaniam R, Yap MJ, Chia P
    Med J Malaysia, 2013 Aug;68(4):297-300.
    PMID: 24145255 MyJurnal
    OBJECTIVE: Analyze indications and type of prenatal diagnostic procedures performed.
    METHOD: This retrospective audit was conducted at a dedicated fetal medicine center in Petaling Jaya. All invasive prenatal diagnosis procedures performed from 2003 up until 2010 (amniocentesis, chorionic villous sampling and fetal blood sampling) were analyzed.
    RESULT: A total of 1560 invasive prenatal diagnostic procedures were performed during the 8 year period. Advanced maternal age is the leading indication for invasive prenatal diagnostic procedures followed by fetal abnormalities. The fetal loss rate was 0.2% for amniocentesis and 1.2% for CVS.
    CONCLUSION: Advanced maternal age is the leading indication for invasive prenatal diagnostic procedures at this centre but is on a declining trend. The fetal loss rates are comparable to auditable standards set by professional bodies, in this case, the Royal College of Obstetricians & Gynecologists of London.
    Matched MeSH terms: Prenatal Diagnosis
  16. Kalle Kwaifa I, Lai MI, Md Noor S
    Orphanet J Rare Dis, 2020 06 29;15(1):166.
    PMID: 32600445 DOI: 10.1186/s13023-020-01429-1
    BACKGROUND: Defective synthesis of the α-globin chain due to mutations in the alpha-globin genes and/or its regulatory elements leads to alpha thalassaemia syndrome. Complete deletion of the 4 alpha-globin genes results in the most severe phenotype known as haemoglobin Bart's, which leads to intrauterine death. The presence of one functional alpha gene is associated with haemoglobin H disease, characterised by non-transfusion-dependent thalassaemia phenotype, while silent and carrier traits are mostly asymptomatic.

    MAIN BODY: Clinical manifestations of non-deletional in alpha thalassaemia are varied and have more severe phenotype compared to deletional forms of alpha thalassaemia. Literature for the molecular mechanisms of common non-deletional alpha thalassaemia including therapeutic measures that are necessarily needed for the understanding of these disorders is still in demand. This manuscript would contribute to the better knowledge of how defective production of the α-globin chains due to mutations on the alpha-globin genes and/or the regulatory elements leads to alpha thalassaemia syndrome.

    CONCLUSION: Since many molecular markers are associated with the globin gene expression and switching over during the developmental stages, there is a need for increased awareness, new-born and prenatal screening program, especially for countries with high migration impact, and for improving the monitoring of patients with α-thalassaemia.

    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. Foong Eva, Hasliani Hassan, Azizah Othman, Ilunihayati Ibrahim, Nazihah Mohd Yunus, Siti Mariam Ismail, et al.
    MyJurnal
    Objectives: Chromosomal abnormalities especially aneuploidies are the most common etiology for pregnancy loss. Trisomy 13, trisomy 18 and trisomy 21 are the most common chromosome autosomal aneuploidies with trisomy 21 (Down syndrome) being the most common chromosomal abnormality among liveborn infants. In previous reports, we noted that the recurrence of these aneuploidies in some families may not occur by chance alone.

    Methods: Extraction of relevant data from review of medical case notes of a young couple with two offspring with Down syndrome (DS) and Patau syndrome.

    Results: A family history of DS is a predisposing factor for both DS and other types of aneuploidy. Certain instances of non-disjunction error are not random.

    Conclusion: As the maternal age was not advanced in both pregnancies, there is a possibility that the recurrent aneuploidy in this family may not be accounted by chance alone. The risk of having subsequent affected pregnancy cannot be ignored in this family and prenatal diagnosis is strongly recommended in the subsequent pregnancy.
    Matched MeSH terms: Prenatal Diagnosis
  19. Hamidah NH, Munirah AR, Hafiza A, Farisah AR, Shuhaila A, Norzilawati MN, et al.
    Malays J Pathol, 2014 Dec;36(3):163-8.
    PMID: 25500514 MyJurnal
    Prenatal diagnosis is essential in the new era of diagnosis and management of genetic diseases in obstetrics. Multiple ligation-dependent probe amplification (MLPA) is a recent technique for prenatal diagnosis for the relative quantification of 40 different nucleic acid sequences in one single reaction. We had utilized the MLPA technique in detecting aneuploidies in amniotic fluid samples from 25 pregnant women from the Obstetrics and Gynaecology Department UKMMC, versus the quantitative fluorescent polymerase chain reaction (QF-PCR) method. Conclusive results were obtained in 18 cases and all were concordant with that of the QF-PCR. All four cases of trisomies were correctly identified including one case with maternal cell contamination.
    Matched MeSH terms: Prenatal Diagnosis/methods*
  20. Zainal NZ, Alauddin H, Ahmad S, Hussin NH
    Malays J Pathol, 2014 Dec;36(3):207-11.
    PMID: 25500521
    Thalassaemia carriers are common in the Asian region including Malaysia. Asymptomatic patients can be undiagnosed until they present for their antenatal visits. Devastating obstetric outcome may further complicate the pregnancy if both parents are thalassaemia carriers leading to hydrophic fetus due to haemoglobin Bart's disease. However in certain cases where unexplained hydrops fetalis occur in parents with heterozygous thalassaemia carrier,mutated α genes should be suspected. We report a twenty-nine year old woman in her third pregnancy with two previous pregnancies complicated by early neonatal death at 21 and 28 weeks of gestation due to hydrops fetalis. DNA analysis revealed the patient to have heterozygous (--SEA) α-gene deletion, while her husband has a compound heterozygosity for α(3.7) deletion and codon 59 (GGC → GAC) mutation of the α-gene. This mutation, also known as hemoglobin Adana, can explain hydrops fetalis resulting from two alpha gene deletions from the patient (mother) and a single alpha gene deletion with mutation from the father. The third pregnancy resulted in a grossly normal baby boy with 3 α-gene deletions (HbH disease). We postulate that, in view of heterogenisity of the α-thalassaemia in this patient with severely unstable haemoglobin Adana chains from her husband, there will be a 25% possibility of fetal hydrops in every pregnancy.
    Matched MeSH terms: Prenatal Diagnosis/methods*
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