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  1. Congenital disorder of glycosylation type Ia in a Malaysian family: clinical outcome and description of a novel PMM2 mutation
    Thong MK, Fietz M, Nicholls C, Lee MH, Asma O
    J Inherit Metab Dis, 2009 Dec;32 Suppl 1:S41-4.
    PMID: 19165618 DOI: 10.1007/s10545-009-1031-1
    There are few reports of congenital disorders of glycosylation (CDGs) in the Asian population, although they have been reported worldwide. We identified a Malaysian infant female at 2 days of life with CDG type Ia. The diagnosis was suspected on the basis of inverted nipples and abnormal fat distribution. She had cerebellar hypoplasia and developed coagulopathy, hypothyroidism and severe pericardial effusion and died at 7 months of life. The diagnosis was supported by abnormal serum transferrin isoform pattern that showed elevated levels of the disialotransferrin isoform and trace levels of the asialotransferrin isoform. Enzyme testing of peripheral leukocytes showed decreased level of phosphomannomutase (PMM) activity (0.6 nmol/min per mg protein, normal range 1.6-6.2) and a normal level of phosphomannose isomerase activity (19 nmol/min per mg protein, normal range 12-25), indicating a diagnosis of CDG type Ia. Mutation study of the PMM2 gene showed the patient was heterozygous for both the common p.R141H (c.422T>A) mutation and a novel sequence change in exon 7, c.618C>A. The latter change is predicted to result in the replacement of the highly conserved phenylalanine residue at position 206 with a leucine residue (p.F206L) and occurs in the same codon as the previously reported p.F206S mutation. Analysis of 100 control chromosomes has shown that the p.F206L sequence change is not present, making it highly likely that this change is functionally important. To the best of our knowledge, this is the first report of CDG in the Malay population. Prenatal diagnosis was successfully performed in a subsequent pregnancy for this family.
    Matched MeSH terms: Prenatal Diagnosis
  2. Mutation spectrum of and founder effects affecting the PTS gene in East Asian populations
    Chiu YH, Chang YC, Chang YH, Niu DM, Yang YL, Ye J, et al.
    J Hum Genet, 2012 Feb;57(2):145-52.
    PMID: 22237589 DOI: 10.1038/jhg.2011.146
    The enzyme 6-pyruvoyl-tetrahydropterin synthase (PTPS, gene symbol: PTS) is involved in the second step of the de novo biosynthesis of tetrahydrobiopterin (BH4), which is a vital cofactor of nitric oxide synthases and three types of aromatic amino acid hydroxylases; the latter are important enzymes in the production of neurotransmitters. We conducted a study of PTS mutations in East Asia, including Taiwan, Mainland China, Japan, South Korea, the Philippines, Thailand and Malaysia. A total of 43 mutations were identified, comprising 22 previously reported mutations and 21 new discovered mutations. Among these, the c.155A>G, c.259C>T, c. 272A>G, c.286G>A and c.84-291A>G mutations were the most common PTS mutations in East Asia, while the c.58T>C and c.243G>A mutations were, respectively, specific to Filipinos and Japanese originating from Okinawa. Further studies demonstrated that each of the mutations listed above was in linkage disequilibrium to a specific allele of polymorphic microsatellite marker, D11S1347. These results suggest the presence of founder effects that have affected these frequent mutations in East Asia populations. In this context, D11S1347 should become one of the most reliable polymorphic markers for use in prenatal diagnosis among PTPS deficient families, especially where mutations are yet to be identified.
    Matched MeSH terms: Prenatal Diagnosis
  3. Alpha-thalassaemia in association with beta-thalassaemia patients in Malaysia: a study on the co-inheritance of both disorders
    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
  4. 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
  5. 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
  6. 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
  7. 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
  8. Fulltext Differential outcomes in an extended family with constitutional t(11;22)(q23.3;q11.2)
    Kee SK, See VH, Chia P, Tan WC, Tien SL, Lim ST
    J Pediatr Genet, 2013 Mar;2(1):37-41.
    PMID: 27625838 DOI: 10.3233/PGE-13046
    The t(11;22) rearrangement is the most common recurrent familial reciprocal translocation in man. Heterozygote carriers are phenotypically normal but are at risk of subfertility in the male, miscarriages, and producing chromosomally unbalanced offspring. The unbalanced progeny usually results from an extra der(22) chromosome resulting from a 3:1 malsegregation. We present here a family with t(11;22). Of six siblings, three were found to be carriers following prenatal diagnosis of the proband fetus. Neither of the two married carrier siblings have a live born child. In keeping with the prevailing knowledge of the pregnancy outcomes of heterozygote carriers, between the siblings they had recurrent miscarriages, a fetus with a +der(22) chromosome, and other subfertility issues resulting in multiple failed in vitro fertilization cycles with preimplantation genetic diagnosis. However, unlike the siblings, their extended family comprising their heterozygote translocation mother, married aunts and an uncle had normal fertility and a lack of a history of miscarriages or an abnormal child. The differing outcomes may be related to the male partners having additional semen anomalies which may further exacerbate problems associated with the t(11;22). Because the t(11;22) rearrangement tends to run in families, it is recommended that chromosome studies are offered to family members of an affected relative as an option, and provide them with appropriate genetic counseling so that they will have the necessary information with regard to their risk for subfertility, miscarriages, and production of viable unbalanced offspring. Follow-up prenatal diagnosis should also be offered to affected expectant family members, especially after preimplantation genetic diagnosis.
    Matched MeSH terms: Prenatal Diagnosis
  9. 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
  10. Fulltext Knowledge and perception regarding prenatal genetic screening of thalassemia, down syndrome and neural tube defects: a study among IIUM Kuantan undergraduates
    Nur Sajidah Sulaiman, Norafiza Zainuddin
    Malaysian Journal of Public Health Medicine, 2018;18(1):0-0.
    MyJurnal
    Prenatal genetic screening is offered during pregnancy to detect foetuses that have certain diseases. It is widely used in the detection of congenital malformation which results in foetal birth defects. Unawareness of the society on the importance of prenatal genetic testing contributes to the increase in the birth defect rate.Future parents should be exposed with the importance in performing prenatal genetic screening.The purpose of this study was to examine the knowledge and perception level of International Islamic University Malaysia (IIUM) Kuantan students regarding prenatal genetic screening thalassemia, Down syndrome and neural tube defects.This is a cross-sectional study whereby192 respondents were selected using convenience sampling method. A set of close-ended questionnaire was distributed among students in IIUM Kuantan. Independent t-test, parametric test (One- Way ANOVA test), non-parametric test (Mann-Whitney test) and correlation coefficient(Pearson) were used to find all related factors influencing knowledge and perception and to find association between knowledge and perception of IIUM Kuantan students.From this study, it was found that the level of knowledge and perception of IIUM Kuantan students regarding prenatal genetic screening of thalassemia, Down syndrome and neural tube defects was relatively high. Married students hada betterknowledge compared to unmarriedstudents (p=0.008). Moreover, students from Kulliyyah (Faculty) of Medicine had adequate level of knowledge (p
    Matched MeSH terms: Prenatal Diagnosis
  11. Predicting Down syndrome and neural tube defects using basic risk factors
    Khattak MT, Supriyanto E, Aman MN, Al-Ashwal RH
    Med Biol Eng Comput, 2019 Jul;57(7):1417-1424.
    PMID: 30877513 DOI: 10.1007/s11517-019-01969-0
    Congenital anomalies are not only one of the main killers for infants but also one of the major causes of deaths under 5. Among congenital anomalies, Down syndrome or trisomy 21 (T-21) and neural tube defects (NTDs) are considered the most common. Expectant mothers in developing countries may not have access to or may not afford the advanced prenatal screening tests. To solve this issue, this paper explores the practicality of using only the basic risk factors for developing prediction models as a tool for initial risk assessment. The prediction models are based on logistic regression. The results show that the prediction models do not have a high balanced classification rate. However, these models can still be used as an effective tool for initial risk assessment for T-21 and NTDs by eliminating at least 50% of the cases with no or low risk. Graphical Abstract Prenatal Risk Assessment of Trisomy-21 and Neural Tube Defects.
    Matched MeSH terms: Prenatal Diagnosis
  12. Fulltext Permissibility of prenatal diagnosis and abortion for fetuses with severe genetic disorder: type 1 spinal muscular atrophy
    Sasongko TH, Salmi AR, Zilfalil BA, Albar MA, Mohd Hussin ZA
    Ann Saudi Med, 2010 Nov-Dec;30(6):427-31.
    PMID: 21060155 DOI: 10.4103/0256-4947.72259
    Abortion has been largely avoided in Muslim communities. However, Islamic jurists have established rigorous parameters enabling abortion of fetuses with severe congenital abnormalities. This decision-making process has been hindered by an inability to predict the severity of such prenatally-diagnosed conditions, especially in genetic disorders with clinical heterogeneity, such as spinal muscular atrophy (SMA). Heterogeneous phenotypes of SMA range from extremely severe type 1 to very mild type 4. Advances in molecular genetics have made it possible to perform prenatal diagnosis and to predict the types of SMA with its potential subsequent severity. Such techniques will make it possible for clinicians working in predominantly Muslim countries to counsel their patients accurately and in harmony with their religious beliefs. In this paper, we discuss and postulate that with our current knowledge of determining SMA types and severity with great accuracy, abortion is legally applicable for type 1 SMA.
    Matched MeSH terms: Prenatal Diagnosis
  13. Heart failure in pregnancy: an overview
    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
  14. Fulltext Laboratory aspects of asymptomatic bacteriuria in pregnancy
    Mohammad M, Mahdy ZA, Omar J, Maan N, Jamil MA
    Southeast Asian J. Trop. Med. Public Health, 2002 Sep;33(3):575-80.
    PMID: 12693594
    A total of 1,661 pregnant women aged between 13 and 45 years were screened for bacteriuria by urine culture. Of the 1,661 culture results, 615 (37%) yielded no growth; 728 (43.8%) yielded no significant growth (presence of <10(5) organisms/ml urine of one or more types of bacteria); 286 (17.2%) yielded mixed growth (presence of >10(5) organisms/ml urine of more than one type of bacteria) and only 32 (1.9%) showed significant growth (presence of >10(5) organisms/ml urine of a single bacterium). Urine microscopy was also conducted. Two hundred and twenty-four (13.5%) specimens had >10 white blood cells/ml urine, of which 66 had >100 white blood cells; 13 were from the significant growth group. Three hundred and seventy-four (22.5%) specimens showed the presence of bacteria, 42 (2.5%) had red blood cells, 370 (22.3%) had epithelial cells, 58 (3.5%) had crystals, and 14 (0.8%) had yeasts. The most common bacterium isolated was Escherichia coli (12; 40%); the others included group B Streptococcus (5; 15%), Klebsiella spp (5; 15%), Diphtheroids (2), and Candida albicans (2). Fifty-two percent of tested strains were sensitive to ampicillin; 24 of 28 strains (85.7%) were sensitive to ciprofloxacin; all 7 strains tested were sensitive to nitrofurantoin and all 20 strains tested were sensitive to cotrimoxazole; 14/20 (70%) and 16/17 (94.1%) were sensitive to cephalexin and cefuroxime respectively. This study shows that asymptomatic bacteriuria does occur in pregnant women, albeit at a very low rate in an urban setting like Cheras. Urine microscopy is not specific and only serves as a guide to bacteriuria. The commonest causative organisms are those from the gastrointestinal tract and vagina. The antibiogram showed that cefuroxime and cephalexin are likely to be effective in treating bacteriuria: ampicillin must be reserved for Gram-negative organisms. For Gram-positive organisms, of which Group B Streptococcus is important, ampicillin is still effective in vitro. Nitrofurantion and cotrimoxazole have excellent activity in vitro and should be considered for therapy. 17.2% of the urine culture yielded mixed growth: likely to indicate that contamination of urine specimens still happens despite the strict instructions given to patients about the collection of a midstream urine specimen. Proper collection, appropriate transport, and the early processing of urine specimens remain essential.
    Matched MeSH terms: Prenatal Diagnosis/methods*
  15. International perspectives on the implementation of reproductive carrier screening
    Delatycki MB, Alkuraya F, Archibald A, Castellani C, Cornel M, Grody WW, et al.
    Prenat Diagn, 2020 02;40(3):301-310.
    PMID: 31774570 DOI: 10.1002/pd.5611
    Reproductive carrier screening started in some countries in the 1970s for hemoglobinopathies and Tay-Sachs disease. Cystic fibrosis carrier screening became possible in the late 1980s and with technical advances, screening of an ever increasing number of genes has become possible. The goal of carrier screening is to inform people about their risk of having children with autosomal recessive and X-linked recessive disorders, to allow for informed decision making about reproductive options. The consequence may be a decrease in the birth prevalence of these conditions, which has occurred in several countries for some conditions. Different programs target different groups (high school, premarital, couples before conception, couples attending fertility clinics, and pregnant women) as does the governance structure (public health initiative and user pays). Ancestry-based offers of screening are being replaced by expanded carrier screening panels with multiple genes that is independent of ancestry. This review describes screening in Australia, Cyprus, Israel, Italy, Malaysia, the Netherlands, Saudi Arabia, the United Kingdom, and the United States. It provides an insight into the enormous variability in how reproductive carrier screening is offered across the globe. This largely relates to geographical variation in carrier frequencies of genetic conditions and local health care, financial, cultural, and religious factors.
    Matched MeSH terms: Prenatal Diagnosis/statistics & numerical data
  16. Integrated approach for triple elimination of mother-to-child transmission of HIV, hepatitis B and syphilis is highly effective and cost-effective: an economic evaluation
    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
  17. Fulltext Comparative performance of Patient Health Questionnaire-9 and Edinburgh Postnatal Depression Scale for screening antepartum depression
    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*
  18. Prenatal detection of birth defects in a Malaysian population: estimation of the influence of termination of pregnancy on birth prevalence in a developing country
    Ho JJ, Thong MK, Nurani NK
    Aust N Z J Obstet Gynaecol, 2006 Feb;46(1):55-7.
    PMID: 16441696
    We studied 253 women with a pregnancy complicated by a birth defect and 506 controls to determine the frequency and type of prenatal tests and the types of defects detected antenatally. Most women had at least one ultrasound examination, but the frequency of other screening tests was low. Only 38 (15%) of defects were detected antenatally (37 by ultrasound). Birth prevalence is unlikely to be affected by pregnancy termination.
    Matched MeSH terms: Prenatal Diagnosis*
  19. A single centre study on birth of children with transfusion-dependent thalassaemia in Malaysia and reasons for ineffective prevention
    Ngim CF, Ibrahim H, Lai NM, Ng CS
    Prenat Diagn, 2015 Jan;35(1):51-9.
    PMID: 25156332 DOI: 10.1002/pd.4484
    We aimed to identify factors contributing to ineffective prevention of thalassaemia in Malaysia by studying events leading to the births of children with transfusion-dependent thalassaemia (TDT) including their parents' reproductive choices.
    Matched MeSH terms: Prenatal Diagnosis/statistics & numerical data
  20. 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*
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