Displaying publications 1 - 20 of 64 in total

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  1. β-Thalassemias
    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
  2. α-thalassemia-associated hydrops fetalis: A rare cause of thyrotoxic cardiomyopathy
    Tumian NR, Wong M, Wong CL
    J Obstet Gynaecol Res, 2015 Jun;41(6):967-70.
    PMID: 25510540 DOI: 10.1111/jog.12648
    α°-thalassemia is a well-known cause of hydrops fetalis in South-East Asia and can be detected in utero. We report a very rare case of thyrotoxic cardiomyopathy associated with hyperplacentosis secondary to α°-thalassemia-associated hydrops fetalis. A 22-year-old primigravida with microcytic anemia presented at 27 weeks' gestation with pre-eclampsia, hyperthyroidism and cardiac failure. Serum β-human chorionic gonadotrophin was markedly elevated and abdominal ultrasound revealed severe hydropic features and enlarged placenta. Serum β-human chorionic gonadotrophin, cardiac function and thyroid function tests normalized after she delivered a macerated stillbirth. Histopathology of the placenta showed hyperplacentosis. Blood DNA analysis revealed that both patient and husband have the α°-thalassemia trait. This case illustrates a very atypical presentation of α°-thalassemia-associated hydrops fetalis and the importance of early prenatal diagnosis of α-thalassemia in women of relevant ethnic origin with microcytic anemia so that appropriate genetic counseling can be provided to reduce maternal morbidity and the incidence of hydrops fetalis.
    Matched MeSH terms: Prenatal Diagnosis
  3. Fulltext α-Thalassemia with Haemoglobin Adana mutation: prenatal diagnosis
    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*
  4. Value of total urinary estrogen assays in the management of toxemic pregnancies in Malaysian women
    Chan WF, Sinnathuray TA, Rahman MG
    Int Surg, 1973 Nov-Dec;58(11):784-6.
    PMID: 4796092
    Matched MeSH terms: Prenatal Diagnosis
  5. Fulltext The role of maternal serum alpha-fetoprotein, human chorionic gonadotrophin and oestriol in the antenatal screening of Down's syndrome
    Chang TC, Cheng HH
    Med J Malaysia, 1994 Dec;49(4):351-4.
    PMID: 7545778
    The use of maternal age alone to identify pregnant mothers at risk of a fetus with Down's syndrome has recently been supplemented by maternal serum screening using biochemical markers such as alpha-protein, human chorionic gonadotrophin and oestriol. These tests have been reported to increase the sensitivity of antenatal detection of such fetuses from 35% to 67% with a false positive rate of 5%. However, these maternal serum markers may be affected by maternal weight, the smoking history of mothers and diabetes mellitus. Furthermore, such sensitivities are achieved only when gestational age is assessed accurately by ultrasound. Many further studies need to be carried out before the introduction of maternal serum screening into routine obstetric practice in Singapore. These include studies on the incidence of Down's syndrome in the local population, studies on the distribution of these serum markers in the second trimester of pregnancy, sensitivities and positive predictive values of such a test in the local population as well as the socio-economic implications of implementing such a screening test in the local obstetric population.
    Matched MeSH terms: Prenatal Diagnosis*
  6. Fulltext The prevalence of HIV positive antenatal mothers in a routine screening programme in two states
    Japaraj RP, Sivalingam N
    Med J Malaysia, 2001 Jun;56(2):180-5.
    PMID: 11771078
    This is a retrospective study of the prevalence of Human Immunodeficiency Virus (HIV) positive mothers in two states in Malaysia i.e., Perak and Negeri Sembilan since the introduction of the HIV screening programme in antenatal mothers. The study period was from 1/9/97 to 1/9/99. A total of 29 HIV positive antenatal mothers were detected (21 from Perak and 8 from Negeri Sembilan) throughout the study period. Out of the 21 HIV positive mothers from Perak, 8 (38%) were foreign nationals whereas only 1 (12%) out of the 8 from Negeri Sembilan was a foreign national. The main risk factor identified in both the groups was multiple sexual partners. The vertical transmission rates for the patients from Perak were 14.2% and 37.5% in Negeri Sembilan. There was no significant short-term adverse obstetric outcome.
    Matched MeSH terms: Prenatal Diagnosis*
  7. The prevalence of GP Mur and anti-"Mia" in a tertiary hospital in Peninsula Malaysia
    Prathiba R, Lopez CG, Usin FM
    Malays J Pathol, 2002 Dec;24(2):95-8.
    PMID: 12887167
    The Mi III phenotype of the Miltenberger subsystem (or GP Mur) is relatively common in Southeast Asia especially along the south-east coast lines of China and Taiwan. The term anti-"Mia" describes antibodies that react with the Mi III phenotype. Since the Peninsula Malaysian population is a multiethnic one with a significant proportion of Chinese, a study was conducted into the prevalence of anti-"Mia" in patients from its 3 major ethnic groups--Chinese, Malays and Indians, as well as the GP Mur phenotype in blood donors (healthy individuals). Blood samples from 33,716 patients (general and antenatal) were screened for anti-"Mia" from January 1999 to December 2000. The investigation for the GP Mur phenotype representing the corresponding sensitizing antigen complex was carried out in 655 blood donors. Serum anti-"Mia" antibody was found to be the third most commonly occurring antibody detected in our patients and was found in all the ethnic groups. The antibody was detected in 0.2% of 33,716 antenatal and general patients with a prevalence in Chinese of 0.3%, Malay 0.2% and Indian 0.2%. The detection of these antibodies in the ethnic groups other than the Chinese is a noteworthy finding as such information is not well documented. The GP Mur red cell phenotype was detected in 15/306 (4.9%) of Chinese blood donors, a lower prevalence than in Chinese populations in other countries in the region. More significant was its detection in the Malays (2.8%) and the Indians (3.0%). Because of the many reports of clinical problems associated with the "Mia" antibody including the causation of fetal hydrops and haemolytic transfusion reactions, it is warranted that the GP Mur red cells be included in screening panels for group and screen procedures in countries with a significant Asian population.
    Matched MeSH terms: Prenatal Diagnosis
  8. Fulltext Thalassaemia in Malaysia: a strategy for prevention
    Ainoon O, Cheong SK
    Malays J Pathol, 1994 Jun;16(1):23-7.
    PMID: 16329572
    In Malaysia, alpha-thalassaemia, beta-thalassaemia, haemoglobin (Hb) E, deltabeta-thalassaemia and Hb Constant Spring are prevalent. It has been estimated that 1 in 4 persons carries one of the above genetic abnormalities. In clinical practice, the major problems are: Hb Bart's hydrops fetalis (homozygous alpha(o)thalassaemia), homozygous 3(o)-thalassaemia, E-alpha thalassaemia and HbH disease. The laboratory procedures for diagnosis are standardised and the molecular basis of most of these genetic abnormalities are characterised. Thus it is possible to formulate a strategy for the detection and prevention of these disorders. The steps include the setting-up of population screening and genetic counselling service for the affected individuals, Society of Thalassaemias for public education and group support, and prenatal diagnosis with selective abortion of affected pregnancies. We embarked on such a programme between 1988 and 1992 in Kuala Lumpur General Hospital and hope to kindle similar effort in other state hospitals.
    Matched MeSH terms: Prenatal Diagnosis
  9. Fulltext Spectrum of beta-thalassaemia mutations in transfusion dependent thalassaemia patients: practical implications in prenatal diagnosis
    George E, George R, Ariffin WA, Mokhtar AB, Azman ZA, Sivagengei K
    Med J Malaysia, 1993 Sep;48(3):325-9.
    PMID: 8183146
    The study concerned the identification of the beta-thalassaemia mutations that were present in 24 patients with beta-thalassaemia major who were transfusion dependent. The application of a modified polymerase chain reaction, the amplification refractory system (ARMS) was found to be an effective and rapid method for the identification of the beta-thalassaemia mutations. Six different mutations were detected. Seventy five percent of the patients were Chinese-Malaysians and showed the commonly occurring anomalies: 1. frameshift codon 41 and 42 (-TCTT); 2. the C to T substitution at position 654 of intron 2 (IVS-2); 3. the mutation at position -28(A to G); and the nonsense mutation A to T at codon 17. In the Malays, the common mutations seen were: 1. the G to C mutation at position 5 of IVS-1; 2. the G to T mutation at position 1 of intron 1 (IVS-1); and the A to T at codon 17. The delineation of the specific mutations present will enable effective prenatal diagnosis for beta-thalassaemia to be instituted.
    Matched MeSH terms: Prenatal Diagnosis*
  10. Severe anti-D haemolytic disease of fetal and newborn in rhesus D negative primigravida
    Hassan MZ, Iberahim S, Abdul Rahman WSW, Zulkafli Z, Bahar R, Ramli M, et al.
    Malays J Pathol, 2019 Apr;41(1):55-58.
    PMID: 31025639
    INTRODUCTION: Anti-D alloimmunisation may occur from the blood transfusion or fetomaternal haemorrhage which can lead to haemolytic disease of fetal and newborn (HDFN). The morbidity and mortality of HDFN related to anti-D is significantly reduced after introduction of anti-D prophylaxis and furthermore, anti-D HDFN in RhD negative primigravida is uncommonly seen.

    CASE REPORT: A case of unusual severe HDFN due to anti-D alloimmunisation in undiagnosed RhD negative primigravida Malay woman is reported here. This case illustrates the possibility of an anamnestic response from previous unknown sensitisation event or the development of anti-D in mid trimester. The newborn expired due to hydrops fetalis and severe anaemia. Antenatally, the mother was identified as RhD positive and thus there was no antenatal antibody screening, antepartum anti-D prophylaxis or close fetal monitoring for HDFN.

    DISCUSSION: The thorough antenatal ABO and RhD blood grouping with antibody screening is mandatory as part of prevention and early detection of HDFN especially due to anti-D alloimmunisation. Improper management of RhD negative women might lead to severe HDFN including in primigravida.

    Matched MeSH terms: Prenatal Diagnosis
  11. Screening for gestational diabetes at antenatal booking in a Malaysian university hospital: the role of risk factors and threshold value for the 50-g glucose challenge test
    Tan PC, Ling LP, Omar SZ
    Aust N Z J Obstet Gynaecol, 2007 Jun;47(3):191-7.
    PMID: 17550485 DOI: 10.1111/j.1479-828X.2007.00717.x
    Background: The best method of screening for gestational diabetes (GDM) remains unsettled. The 50-g glucose challenge test (GCT) is used in a two-stage screening process but its best threshold value can vary according to population.

    Aims: To evaluate the role of risk factors in conjunction with GCT and to determine an appropriate threshold for the one-hour venous plasma glucose with the GCT.

    Method: In a prospective study, 1600 women at antenatal booking without a history of diabetes mellitus or GDM filled a form on risk factors before GCT. Women who had GCT >or= 7.2 mmol/L underwent the 75-g oral glucose tolerance test (OGTT). GDM was diagnosed according to WHO (1999) criteria.

    Result: Thirty-five per cent had GCT >or= 7.2 mmol/L, 32.6% underwent OGTT and 34.5% of OGTT confirmed GDM. The GDM rate in our population was at least 11.4%. Examination of the receiver operator characteristic curve suggested that the best threshold value for the GCT in our population was >or= 7.6 mmol/L. Multivariable logistic regression demonstrated that only GCT >or= 7.6 mmol/L was an independent predictor for GDM (adjusted odds ratio 3.7: P < 0.001). After GCT, maternal age and anthropometry, OGTT during the third trimester, family history, obstetric history and glycosuria were not independent predictors of GDM.

    Conclusions: Risk factors were not independent predictors of GDM in women with GCT >or= 7.2 mmol/L. GCT threshold value >or= 7.6 mmol is appropriate for the Malaysian population at high risk of GDM.
    Matched MeSH terms: Prenatal Diagnosis/methods*
  12. Religious scholars' attitudes and views on ethical issues pertaining to pre-implantation genetic diagnosis (PGD) in Malaysia
    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*
  13. Fulltext Red cell antibody screening in pregnancy: a preliminary insight?
    Suria, A.A., Nurdiayana, M.N., Huik, May L., Alex, Y.C.S, Noornabillah, R., Hud, M.A., et al.
    Medicine & Health, 2012;7(1):41-46.
    MyJurnal
    Red cell alloimmunisation is defined as the development of antibodies in response to foreign red cell antigens through transfusion or pregnancy. In pregnant women even without the history of previous blood transfusion, this is possible through previous or current pregnancy with the presence of paternal red cell antigen inherited by the fetus. This study was aimed to determine the prevalence of red cell alloimmunisation among pregnant women without previous history of blood transfusion and the association with number of pregnancy and history of obstetric complications. This was a cross-sectional study in which 150 pregnant women were randomly selected from the antenatal clinic. Ten mls of peripheral blood was obtained for antibody screening using indirect antiglobulin test besides the routine antenatal screening. In this study, the majority (37.3%) of the women were primigravidae. Red cell alloantibodies were detected in two out of 150 (1.3%) patients which were subsequently identified as anti-C and anti-D. However none of the primigravida was alloimmunised. One woman of gravida 2 (2.9%) and gravida 3 (3.6%) each were positive for alloimmunisation. One of them also had a bad obstetric history. This study showed that the prevalence of red cell alloimmunisation among pregnant women was low in this centre. Nevertheless, red cell alloantibody screening test should be made available to reduce possible complications of alloimmunisation in mothers and fetuses.
    Study site: Antenatal clinic, Pusat Perubatan Universiti Kebangsaan Malaysia (PPUKM), Kuala Lumpur, Malaysia
    Matched MeSH terms: Prenatal Diagnosis
  14. Fulltext Rapid and cost-effective antenatal diagnosis of haemoglobin Bart's hydrops foetalis syndrome using a duplex-polymerase chain reaction
    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*
  15. Problems in prenatal diagnosis
    Wong HB
    Family Practitioner, 1984;7:87-92.
    Matched MeSH terms: Prenatal Diagnosis
  16. Prenatal exclusion of severe factor VII deficiency
    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*
  17. Fulltext Prenatal diagnosis of infantile polycystic kidneys: a case report
    Raman S, Rachagan SP, Boopalan P, Jeyarani S
    Med J Malaysia, 1986 Dec;41(4):361-4.
    PMID: 3312976
    A case of infantile polycystic kidneys diagnosed prenatally by ultrasound is presented here. This condition was confirmed at post-mortem following delivery of the child. The clinical and pathological features of this inheritable disease is discussed.
    Matched MeSH terms: Prenatal Diagnosis*
  18. Fulltext Prenatal diagnosis of aneuploidies in amniotic fluid by multiple ligation-dependent probe amplification (MLPA) analysis
    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*
  19. Fulltext Prenatal diagnosis of alpha thalassaemia major following cordocentesis--a case report
    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*
  20. Fulltext Prenatal diagnosis of Hb Bart's hydrops fetalis in West Malaysia: the identification of the alpha thal 1 defect by PCR based strategies
    George E, Mokhtar AB, Azman ZA, Hasnida K, Saripah S, Hwang CM
    Singapore Med J, 1996 Oct;37(5):501-4.
    PMID: 9046203
    Haemoglobin Bart's hydrops fetalis is the result of complete absence of functional alpha-globin genes where the fetus is homozygous for the alpha 0-thal gene. Prenatal diagnosis can be made by analysis of fetal DNA from chorionic villus, amniotic cells and fetal blood. Earlier studies for analysing genomic DNA needed digestion with restriction enzymes and hybridisation to radiolabelled probes which took 2 weeks. We have used the polymerase chain reaction (PCR) and non-radioactive primers to identify specific target sequences with results available within 1-3 days for the diagnosis of haemoglobin Bart's syndrome. With fetal blood samples, complete absence of alpha-chain synthesis is confirmed by globin chain electrophoresis on cellulose acetate pH 6.0.
    Matched MeSH terms: Prenatal Diagnosis/methods*
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