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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*
Fulltext Fetal MRI of thoraco-omphalopagus conjoined twins

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*
Epidemiology of clinically significant forms of alpha- and beta-thalassemia: A global map of evidence and gaps

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
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*
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*
Fulltext Non-invasive prenatal diagnosis using fetal DNA in maternal plasma: a preliminary study for identification of paternally-inherited alleles using single nucleotide polymorphisms

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*
Fulltext Genetic diseases and antenatal diagnosis

Wong HB

Med J Malaysia, 1985 Sep;40(3):153-64.
PMID: 3916209

The different methods of prenatal diagnosis are discussed with special reference to ultrasound scan, amniocentesis for cell culture with processing for chromosome study, biochemical analysis and DNA recombination analysis. Chorionic villi aspiration and fetoscopy are new methods which will enhance considerably the methods for prenatal diagnosis. With regard to chromosome study of amniotic cells, experience with 623 cases is reviewed. 2.7% demonstrated chromosome anomalies and of these Downs anomaly was the commonest. A large proportion of cases requesting for amniocentesis are Caucasians who represent only 2% of the population in Singapore, but 25% of the 440 requests were from Caucasions. The various problems associated with the different methods for prenatal deafness are discussed.

Matched MeSH terms: Prenatal Diagnosis/methods*
Book: Genetics for obstetricians and gynaecologists: Chapter: Genetic markers on ultrasound scan

Sivanathan J, Thilaganathan B

Best Pract Res Clin Obstet Gynaecol, 2017 Jul;42:64-85.
PMID: 28456373 DOI: 10.1016/j.bpobgyn.2017.03.005

Prenatal diagnosis is a rapidly evolving speciality. Screening for aneuploidy begins with non-sonographic features of background risk of maternal age and past and family history. It is possible to diagnose major structural defects in the foetus using second trimester scans. Serum biochemistry markers in the early second trimester were added to increase the detection rate of aneuploidy. However, as some of these abnormalities were amenable to detection earlier in the first trimester, newer modalities were introduced. Nuchal translucency (NT) measurement was one of the main advances with regard to first trimester screening. Additional markers such as the presence of nasal bone, tricuspid regurgitation, ductus venosus and megacystis; together with first trimester serum biochemistry, further enhanced the detection rate of chromosomal abnormalities. Advances in research and technology have resulted in the availability of non-invasive prenatal testing from 10 weeks of gestation. This has facilitated the detection of the three major chromosomal aneuploidies at very early gestation. However, there are a wide range of genetic syndromes that are not confined to the main trisomies. There are specific markers on ultrasound that can be linked to specific syndromes. Hence, a structured and stepwise approach is needed to identify and reach a possible diagnosis. As anomalies are classified into malformations, deformations and disruptions, it is important to note that not all markers detected are due to genetic syndromes and not all genetic syndromes can be detected on ultrasound scan. In this chapter, we outline common structural markers and their association with main genetic syndromes.

Matched MeSH terms: Prenatal Diagnosis/methods*
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*
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*
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/methods*
Combine-ARMS: a rapid and cost-effective protocol for molecular characterization of beta-thalassemia in Malaysia

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/methods
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*
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
Fulltext Impact of adopting the 2013 World Health Organization criteria for diagnosis of gestational diabetes in a multi-ethnic Asian cohort: a prospective study

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
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*

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