MyMedR

Problems in prenatal diagnosis

Wong HB

Family Practitioner, 1984;7:87-92.

Matched MeSH terms: Prenatal Diagnosis

Antenatal screening for hepatitis B in pregnant women

Tan PE

Malays J Pathol, 1988 Aug;10:79-83.

PMID: 3252083

Matched MeSH terms: Prenatal Diagnosis*

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*

Fulltext Advances in obstetric ultrasound

Raman S, Tai C, Neoh HS

Med J Malaysia, 1991 Dec;46(4):314-9.

PMID: 1840438

Matched MeSH terms: Prenatal Diagnosis

β-Thalassemias

Thong MK, Ngim CF

N Engl J Med, 2021 Jun 03;384(22):2165.

PMID: 34077655 DOI: 10.1056/NEJMc2105064

Matched MeSH terms: Prenatal Diagnosis

Fulltext Placenta accreta: clinical risk factors, accuracy of antenatal diagnosis and effect on pregnancy outcome

Sofiah S, Fung YC

Med J Malaysia, 2009 Dec;64(4):298-302.

PMID: 20954554 MyJurnal

The aim of this study is to evaluate the clinical risk factors, accuracy of antenatal ultrasound for diagnosis, and the effect of these on pregnancy outcome. It is a retrospective study looking at cases which had hysterectomy following vaginal or caesarean section deliveries from 1993 to 2005. Data regarding the maternal demographic characteristics, number of previous CS, number of previous termination/curettage, antenatal scan findings (state features) and the gestation at which accreta was first suspected/diagnosed, MRI scan findings, pregnancy outcome (need for hysterectomy, amount of blood loss, amount of transfusion, length of ICU and hospital stay, other maternal complications, and neonatal outcome) were collected and evaluated. There were a total of 40 cases diagnosed to have abnormal placental attachment and majority of these were actually diagnosed antenatally by sonography. Visualisation of an absence or thinning of hypoechoic myometrial zone had the highest sensitivity to detect placenta accreta followed by intraplacental lacunae, focal mass tissue elevation and disruption of uterine serosal bladder wall.

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*

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*

"Ante-natal diagnosis of central nervous system malformations"

Yew CW

Med J Malaysia, 1977 Mar;31(3):232-5.

PMID: 904518

Matched MeSH terms: Prenatal Diagnosis*

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 Global trends and themes in genetic counseling research

Zakaria WNA, Yoon SY, Wijaya A, Ahmad AH, Zakaria R, Othman Z

Eur J Hum Genet, 2023 Oct;31(10):1181-1184.

PMID: 37142766 DOI: 10.1038/s41431-023-01371-3

This article seeks to highlight the most recent trends and themes in genetic counseling that are of broad interest. A total of 3505 documents were published between 1952 and 2021, with a trend toward increase in paper/year. The most common documents are original articles (2515, 71.8%), followed by review articles (341, 9.7%). Journal of Genetic Counseling publishes the highest number of genetic counseling articles (587, 16.7%), followed by Clinical Genetics (103, 2.9%) and the South American Journal of Medical Genetics (95, 2.7%). Co-occurrence analysis revealed five research themes: genetic testing, cancer, genetic counselor, prenatal diagnosis, and psychiatry. The genetic counselor theme contained most of the recent keywords, including "covid-19," "underrepresented population," "service delivery models," "workforce," "disparities," "service delivery," "professional development," "cultural competence," "access," "diversity," "telemedicine," and "health literacy." Genetic counseling researchers may use these keywords to find topics pertinent to their future research and practice.

Matched MeSH terms: Prenatal Diagnosis

Fulltext Rapid and cost-effective antenatal diagnosis of haemoglobin Bart's hydrops foetalis syndrome using a duplex-polymerase chain reaction

Wee YC, Tan KL, Tan PC, Yap SF, Tan JAMA

Med J Malaysia, 2005 Oct;60(4):447-53.

PMID: 16570706

Haemoglobin Bart's hydrops foetalis syndrome (--SEA/--SEA) is not compatible with life and contributes to a majority of the hydropic foetuses in the Malaysian Chinese alpha-thalassaemia carriers who possess the 2-alpha-gene deletion in cis (--SEA/alphaalpha). A duplex-PCR which simultaneously amplifies a normal 136 bp sequence between the psialpha-alpha2-globin genes and a 730 bp Southeast Asian deletion-specific sequence (--SEA) between the psialpha2-theta1-globin genes was established. The duplex-PCR which detects the --SEA deletion in both chromosomes serves as a rapid and cost-effective confirmatory test in the antenatal diagnosis of Haemoglobin Bart's hydrops foetalis syndrome in Malaysia. In addition, the duplex-PCR is simple to perform as both the normal and deletion-specific alpha-globin gene sequences are amplified in the same PCR reaction.

Matched MeSH terms: Prenatal Diagnosis/economics; Prenatal Diagnosis/methods*

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/economics; Prenatal Diagnosis/methods

Fulltext Indications for invasive prenatal diagnostic procedures at a dedicated fetal medicine centre: an 8 year audit 2003-2010

Valayatham V, Subramaniam R, Yap MJ, Chia P

Med J Malaysia, 2013 Aug;68(4):297-300.

PMID: 24145255 MyJurnal

OBJECTIVE: Analyze indications and type of prenatal diagnostic procedures performed.
METHOD: This retrospective audit was conducted at a dedicated fetal medicine center in Petaling Jaya. All invasive prenatal diagnosis procedures performed from 2003 up until 2010 (amniocentesis, chorionic villous sampling and fetal blood sampling) were analyzed.
RESULT: A total of 1560 invasive prenatal diagnostic procedures were performed during the 8 year period. Advanced maternal age is the leading indication for invasive prenatal diagnostic procedures followed by fetal abnormalities. The fetal loss rate was 0.2% for amniocentesis and 1.2% for CVS.
CONCLUSION: Advanced maternal age is the leading indication for invasive prenatal diagnostic procedures at this centre but is on a declining trend. The fetal loss rates are comparable to auditable standards set by professional bodies, in this case, the Royal College of Obstetricians & Gynecologists of London.

Matched MeSH terms: Prenatal Diagnosis

Maternal blood : potential use in prenatal screening and diagnostics

Karuppiah, Thilakavathy, Jammal Ahmad Essa, Rozita Rosli

Buletin Persatuan Genetik Malaysia, 2002;8(1):0-0.

MyJurnal

Smaller family size and advancing parental age have increased the demand for prenatal diagnosis.
Prenatal cytogenetic diagnoses currently used, such as amniocentesis and chorionic villus
sampling, are usually not preferred by the expectant couples due to the risk imposed on the mother and child. High false positive rates (5%) of current non-invasive screening methods, such as serum analysts or ultrasound, cause a large number of unnecessary invasive practices to be performed, which apart from the associated risk, place considerable psychological distress on the couples
involved (Wald et al., 1999). (Copied from article).

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 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*

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