Displaying publications 21 - 40 of 64 in total

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  1. 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*
  2. Kho SL, Chua KH, George E, Tan JA
    Sci Rep, 2015;5:13937.
    PMID: 26365497 DOI: 10.1038/srep13937
    Homozygosity for the α-thalassaemia Southeast Asian (α-SEA) and Filipino β°-thalassaemia (β-FIL) deletions can cause serious complications leading to foetal death or life-long blood transfusions. A rapid and accurate molecular detection assay is essential in populations where the deletions are common. In this study, gap-polymerase chain reaction (PCR) with high resolution melting (HRM) analysis was developed to detect both the large deletions. Melting curves at 86.9 ± 0.1 °C were generated by normal individuals without the α-SEA deletion, 84.7 ± 0.1 °C by homozygous α-SEA deletion individuals and two melting curves at 84.7 ± 0.1 °C and 86.9 ± 0.1 °C by α-SEA deletion carriers. Normal individuals without the β-FIL deletion produce amplicons with a melting temperature (Tm) at 74.6 ± 0.1 °C, homozygous β-FIL individuals produce amplicons with Tm at 73.6 ± 0.1 °C and heterozygous β-FIL individuals generate two amplicons with Tm at 73.6 ± 0.1 °C and 74.6 ± 0.1 °C. Evaluation using blinded tests on 220 DNA samples showed 100% sensitivity and specificity. The developed assays are sensitive and specific for rapid molecular and prenatal diagnosis for the α-SEA and β-FIL deletions.
    Matched MeSH terms: Prenatal Diagnosis
  3. 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
  4. 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
  5. 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
  6. 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
  7. Ngim CF, Ibrahim H, Abdullah N, Lai NM, Tan RKM, Ng CS, et al.
    Med J Malaysia, 2019 Jun;74(3):219-225.
    PMID: 31256177
    BACKGROUND: Thalassaemia is a public health burden in Malaysia and its prevention faces many challenges. In this study, we aimed to assess the effectiveness of a web-based educational module in improving knowledge and attitudes about thalassaemia prevention amongst Malaysian young adults.

    METHODS: We designed an interactive web-based educational module in the Malay language wherein videos were combined with text and pictorial visual cues. Malaysians aged 18-40 years old who underwent the module had their knowledge and attitudes assessed at baseline, post-intervention and at 6-month follow-up using a selfadministered validated questionnaire.

    RESULTS: Sixty-five participants: 47 Malays (72.3%), 15 Chinese (23.1%), three Indians (4.6%) underwent the module. Questionnaires were completed at baseline (n=65), postintervention (n=65) and at 6-month follow-up (n=60). Out of a total knowledge score of 21, significant changes were recorded across three time-points- median scores were 12 at pre-intervention, 19 at post-intervention and 16 at 6-month follow-up (p<0.001). Post-hoc testing comparing preintervention and 6-month follow-up scores showed significant retention of knowledge (p<0.001). Compared to baseline, attitudes at 6-month follow-up showed an increased acceptance for "marriage avoidance between carriers" (pre-intervention 20%, 6-month follow-up 48.3%, p<0.001) and "prenatal diagnosis" (pre-intervention 73.8%, 6-month follow-up 86.2%, p=0.008). Acceptance for selective termination however, remained low without significant change (pre-intervention 6.2%, 6-month follow-up 16.7%, p=0.109).

    CONCLUSION: A web-based educational module appears effective in improving knowledge and attitudes towards thalassaemia prevention and its incorporation in thalassaemia prevention programs is potentially useful in Malaysia and countries with a high internet penetration rate.

    Matched MeSH terms: Prenatal Diagnosis
  8. Hassan K, Vijayasilan T, Mahmood Z, Abdul Hamid H, Chin YM
    Singapore Med J, 1988 Oct;29(5):462-8.
    PMID: 3241975
    Whole blood samples from patients with various forms of alpha- and beta- thalassaemia were incubated with 14C-Leucine to determine the relative rates of production of the alpha and beta chains by their reticulocytes. The labelled globin chains were fractionated by CM-Cellulose Chromatography in 8M Urea and the incorporated activity determined. The relative rates of synthesis of alpha and beta chains in some cases of alpha and beta- thalassaemia were established and the chain synthetic ratios were compared with similar ratios in normal individuals. The results show that it is possible to identify from the relative rates of in-vitro synthesis of the alpha and beta chains, the presence of the common thalassaemia slates in particular beta-thal trait, beta-thal homozygotes, Hb H disease and alpha0-thal trait. The presence of transfused blood does not affect the result. This study indicates that an abnormal alpha/beta chain synthesis ratio is useful in defining alpha and beta-thalassaemia variants.
    Matched MeSH terms: Prenatal Diagnosis
  9. Ngim CF, Lai NM, Ibrahim H, Ratnasingam V
    J Community Genet, 2013 Apr;4(2):215-21.
    PMID: 23296641 DOI: 10.1007/s12687-012-0133-x
    Thalassaemia is a public health problem in multi-ethnic Malaysia which mainly affects the Malays, Kadazan-Dusuns and Chinese. This study, the first in Malaysia, aims to evaluate the acceptability of prenatal diagnosis and abortion among Malaysian parents who have a child or children with thalassaemia major and the socio-demographic factors affecting their decision-making. A pre-structured questionnaire was distributed to parents of children with thalassaemia major. Response rate for completed surveys was 99.1 %. Out of 116 respondents, the majority (83/71.6 %) were agreeable for prenatal diagnosis, but only 33 (28.4 %) agreed to both prenatal diagnosis followed by termination of affected foetuses. Of parents who declined abortion, 77.6 % cited religious restriction as the main reason, and their religious background was a significant factor (p = 0.001), with 73.4 % of Muslim participants against termination compared to 25 % of Christians and 13.3 % of Buddhists. Gender, age, highest education level and number of children affected with thalassaemia were non-significant predictors in decision-making regarding abortion. The acceptance rate for termination of foetuses with thalassaemia major in Malaysia is low especially among the Muslims due to religious non-permissibility. Therefore, scholarly deliberations among the Malaysian Muslim religious authorities that result in a supportive stance in this issue may contribute to a more successful prevention programme.
    Matched MeSH terms: Prenatal Diagnosis
  10. 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
  11. Chi C, Loy SL, Chan SY, Choong C, Cai S, Soh SE, et al.
    BMC Pregnancy Childbirth, 2018 03 21;18(1):69.
    PMID: 29562895 DOI: 10.1186/s12884-018-1707-3
    BACKGROUND: We assessed the impact of adopting the 2013 World Health Organization (WHO) diagnostic criteria on the rates of gestational diabetes (GDM), pregnancy outcomes and identification of women at future risk of type 2 diabetes.

    METHODS: During a period when the 1999 WHO GDM criteria were in effect, pregnant women were universally screened using a one-step 75 g 2-h oral glucose tolerance test at 26-28 weeks' gestation. Women were retrospectively reclassified according to the 2013 criteria, but without the 1-h glycaemia measurement. Pregnancy outcomes and glucose tolerance at 4-5 years post-delivery were compared for women with GDM classified by the 1999 criteria alone, GDM by the 2013 criteria alone, GDM by both criteria and without GDM by both sets of criteria.

    RESULTS: Of 1092 women, 204 (18.7%) and 142 (13.0%) were diagnosed with GDM by the 1999 and 2013 WHO criteria, respectively, with 27 (2.5%) reclassified to GDM and 89 (8.2%) reclassified to non-GDM when shifting from the 1999 to 2013 criteria. Compared to women without GDM by both criteria, cases reclassified to GDM by the 2013 criteria had an increased risk of neonatal jaundice requiring phototherapy (relative risk (RR) = 2.78, 95% confidence interval (CI) 1.32, 5.86); despite receiving treatment for GDM, cases reclassified to non-GDM by the 2013 criteria had higher risks of prematurity (RR = 2.17, 95% CI 1.12, 4.24), neonatal hypoglycaemia (RR = 3.42, 95% CI 1.04, 11.29), jaundice requiring phototherapy (RR = 1.71, 95% CI 1.04, 2.82), and a higher rate of abnormal glucose tolerance at 4-5 years post-delivery (RR = 3.39, 95% CI 2.30, 5.00).

    CONCLUSIONS: Adoption of the 2013 WHO criteria, without the 1-h glycaemia measurement, reduced the GDM rate. Lowering the fasting glucose threshold identified women who might benefit from treatment, but raising the 2-h threshold may fail to identify women at increased risk of adverse pregnancy and future metabolic outcomes.

    TRIAL REGISTRATION: NCT01174875 . Registered 1 July 2010 (retrospectively registered).

    Matched MeSH terms: Prenatal Diagnosis/methods; Prenatal Diagnosis/standards*
  12. 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*
  13. 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*
  14. 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*
  15. 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*
  16. Ramesh JC, Chow TWP, Yik YI, Ramanujam TM
    Med J Malaysia, 1999 Dec;54(4):528-30.
    PMID: 11072477
    The management of a case of antenatally diagnosed meconium peritonitis (MP) due to intrauterine intestinal perforation secondary to bowel atresia is reported. The literature is reviewed with reference to the significance and outcome of antenatally diagnosed MP.
    Matched MeSH terms: Prenatal Diagnosis*
  17. 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*
  18. 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*
  19. Tan JA, Tay SH, Kham KY, Wong HB
    Jpn. J. Hum. Genet., 1993 Sep;38(3):315-8.
    PMID: 7903173 DOI: 10.1007/BF01874141
    The distribution of restriction fragment length polymorphism (RFLP) at the BamH1 site of the beta-globin gene was investigated in the Chinese, Indian, and Malay race in Singapore. The sample comprised of 183 normal individuals and 35 beta-thalassemia carriers in which 13 were couples with at least one beta-major child. The results from this study indicate that BamH1 polymorphism will be informative in 22% of pregnancies at risk for beta-thalassemia major in Chinese, 19% in Malays and 7% in Indians. In prenatal diagnosis using BamH1 polymorphism for one beta-major affected family, the fetus was diagnosed to be normal or beta-carrier. The validity of BamH1 polymorphism in the exclusion of beta-thalassemia major was subsequently confirmed at birth by globin chain biosynthesis.
    Matched MeSH terms: Prenatal Diagnosis*
  20. 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*
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