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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*
Fulltext Diagnosis of thanatophoric dwarfism in utero

Afzal M, Singh J, Ong SK

Med J Malaysia, 1983 Mar;38(1):47-50.
PMID: 6633336

Thanatophoric dwarfism is a severe form of neonatal shortlimbed skeletal dysplasia. Most infants are stillborn or die soon after birth. This disorder has well defined radiological features which distinguish it from the other forms of neonatal dwarfism. We report two cases where short limbs were detected on sonography and a diagnosis was made on antenatal radiographs and fetography.

Matched MeSH terms: Prenatal Diagnosis*
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 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
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*
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
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*
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 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; Prenatal Diagnosis/standards*
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
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
Prenatal diagnosis and perinatal management of frontoethmoidal meningoencephalocele

Donnenfeld AE, Hughes H, Weiner S

Am J Perinatol, 1988 Jan;5(1):51-3.
PMID: 3337758

Frontoethmoidal meningoencephaloceles (FEM) are exceedingly rare in the western hemisphere, Australia, and Europe with an estimated frequency of 1 in 40,000 live births. Among the inhabitants of Thailand, Burma, Malaysia, Indonesia, and parts of the Soviet Union, however, the frequency is as high as 1 in 5000, accounting for 15% of all neural tube defects (NTD). Normal maternal serum alpha-fetoprotein (MSAFP) values usually will be found in these cases since most encephaloceles are closed, skin covered defects. Correct interpretation of the sonographic findings is crucial in establishing a diagnosis as well as giving prognostic and recurrence risk information. To our knowledge, this is the first reported case of prenatally diagnosed FEM. Perinatal management, differential diagnosis for disorders associated with this malformation, and epidemiologic information regarding this rare condition are discussed. It is anticipated that the prenatal sonographic findings may be applied to establish this diagnosis in similarly affected fetuses.

Matched MeSH terms: Prenatal Diagnosis*
Fulltext Down syndrome and Patau syndrome in the same sibship: random or not?

Foong Eva, Hasliani Hassan, Azizah Othman, Ilunihayati Ibrahim, Nazihah Mohd Yunus, Siti Mariam Ismail, et al.

Malaysian Journal of Paediatrics and Child Health, 2017;23(2):0-0.
MyJurnal

Objectives: Chromosomal abnormalities especially aneuploidies are the most common etiology for pregnancy loss. Trisomy 13, trisomy 18 and trisomy 21 are the most common chromosome autosomal aneuploidies with trisomy 21 (Down syndrome) being the most common chromosomal abnormality among liveborn infants. In previous reports, we noted that the recurrence of these aneuploidies in some families may not occur by chance alone.

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

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

Conclusion: As the maternal age was not advanced in both pregnancies, there is a possibility that the recurrent aneuploidy in this family may not be accounted by chance alone. The risk of having subsequent affected pregnancy cannot be ignored in this family and prenatal diagnosis is strongly recommended in the subsequent pregnancy.

Matched MeSH terms: Prenatal Diagnosis
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*
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*
Hydrops fetalis: a simple novel screen for the rapid identification of haemoglobin Bart's syndrome

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 Î±o-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 Î±o-thalassaemia.

Matched MeSH terms: Prenatal Diagnosis
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 Investigations on the relative synthesis of globin chains in thalassaemia: a preliminary study in Malaysian subjects

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
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
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*

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