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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: Congenital Abnormalities/diagnosis*; Congenital Abnormalities/epidemiology*; Congenital Abnormalities/prevention & control
A case of congenital deformity suggestive of leprosy

Veerasingham KV

Malayan Medical Journal, 1934;9:209.

Matched MeSH terms: Congenital Abnormalities
A case of disordered development of the female genitalia

Poynton JO

Lancet, 1938;231:1050-1.
DOI: 10.1016/S0140-6736(00)94523-9
Matched MeSH terms: Congenital Abnormalities
Fulltext Mortality from congenital abnormality in Malaysia 1991-1997: the effect of economic development on death due to congenital heart disease

Ho JJ

Med J Malaysia, 2001 Jun;56(2):227-31.
PMID: 11771084

An analysis was done of available data from the Department of Statistics Malaysia, on the type of congenital abnormality contributing to death, to determine whether progress in health care over recent years was associated with any decline in mortality from congenital abnormality. A significant decline in death due to congenital abnormality was observed between 1991 and 1996. This was attributable to a decline in deaths due to congenital heart disease occurring because of improvements in cardiac surgical services for infants. In 1997 death due to congenital heart disease increased significantly. This could be attributed to improvements in the diagnosis of congenital heart disease in the neonate.

Matched MeSH terms: Congenital Abnormalities/economics*; Congenital Abnormalities/mortality*
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: Congenital Abnormalities/embryology; Congenital Abnormalities/genetics
Fulltext Diastolic pressure alternans: a new sign in congenital absence of the pericardium

Shah RP

Singapore Med J, 2001 Feb;42(2):78-9.
PMID: 11358196

Congenital absence of the pericardium is a rare condition,which is frequently missed due its subtle presentation. It may be misdiagnosed as another condition causing right heart dilatation such as an intracardiac shunt. We report the finding of diastolic pressure alternans during cardiac catheterization in this single case report of a patient with congenital total absence of the pericardium. The occurrence of this phenomenon is hypothesized to be due to excessive cardiac hypermobility and paradoxical septal movement. We propose that this finding may be a useful clue to the diagnosis.

Matched MeSH terms: Congenital Abnormalities/diagnosis; Congenital Abnormalities/physiopathology
Fulltext Birth defects in Singapore: 1994-2000

Tan KH, Tan TY, Tan J, Tan I, Chew SK, Yeo GS

Singapore Med J, 2005 Oct;46(10):545-52.
PMID: 16172775

To study characteristics of birth defect cases among live births, stillbirths and abortions in Singapore between 1994 and 2000.

Matched MeSH terms: Congenital Abnormalities/ethnology; Congenital Abnormalities/epidemiology*
Fulltext Audit of birth defects in 34,109 deliveries in a tertiary referral center

Noraihan MN, See MH, Raja R, Baskaran TP, Symonds EM

Med J Malaysia, 2005 Oct;60(4):460-8.
PMID: 16570708

The objective of the study is to determine the proportion and different types of birth defects among the children born in Hospital Kuala Lumpur. A cross-sectional study was conducted for a period of 18 months where all consecutively born infants, dead or alive were included. There were total of 34,109 births recorded during this period. The proportion of birth defects in Hospital Kuala Lumpur was 3.1% (n = 1056). The commonest involved were the hematology system, (157.7 per 10,000 births), the central nervous system, genitourinary system and chromosomal anomalies. The proportion was significantly higher in males and in the Chinese (p < 0.001). The commonest abnormalities are Glucose 6 Phosphate Deficiency (157.7/10000), Down's syndrome (12.6/10000), thalassaemia (8.8/10000), cleft lip and/or palate (7.6/10000) and anencephaly (7.3/10000). Neural tube defect is common and ranked second after G6PD deficiency. There is a need for a birth defect registry to assess the extent of the problem in Malaysia.

Matched MeSH terms: Congenital Abnormalities/classification; Congenital Abnormalities/epidemiology*
Enamel defects in a fluoridated south-east Asian community

Chellappah NK, Vignehsa H, Lo GL

Aust Dent J, 1990 Dec;35(6):530-5.
PMID: 2090085

The prevalence and distribution patterns of enamel defects in maxillary incisors was assessed in 194 Singaporean children aged 11-15 years and belonging to three different ethnic groups. All were born and continuously resident in Singapore, which has a tropical climate. The water supply was fluoridated in 1957 at a level of 0.7 ppm. The mouth prevalence of defects was 71.5 per cent and the tooth prevalence was 55.9 per cent; 82 per cent of all affected teeth demonstrated white lesions of various forms. Although there was no sex difference in the prevalence and distribution pattern of defects, some racial differences were observed. The results were compared with data from other studies where the same classification of defects was used.

Matched MeSH terms: Congenital Abnormalities/ethnology; Congenital Abnormalities/epidemiology
Fulltext Complete congenital third branchial fistula: does the theoretical course apply?

Aneeza WH, Mazita A, Marina MB, Razif MY

Singapore Med J, 2010 Jul;51(7):e122-5.
PMID: 20730387

The course of a third branchial fistula is derived from its embryological origin, in accordance with the branchial apparatus theory. Treatment of this condition requires complete removal of the tract in order to avoid recurrence; however, this can pose a risk to the surrounding structures. We report the case of a complete third branchial fistula as well as a literature review on its theoretical course and management.

Matched MeSH terms: Congenital Abnormalities/radiography; Congenital Abnormalities/surgery
OHVIRA syndrome: clinical implications of a delayed diagnosis

Mohd Adzlan F, Mohd K, Ahmad N, Ramli R

BMJ Case Rep, 2024 May 22;17(5).
PMID: 38782440 DOI: 10.1136/bcr-2024-259861

Obstructed Hemi Vagina with Ipsilateral Renal Agenesis (OHVIRA) syndrome is a rarely encountered müllerian duct anomaly. Delayed diagnosis is common due to normal onset of puberty and menstruation. We report a case of a woman in her early 20s with a background history of multiple emergency department visits, ward admissions and surgeries for chronic abdominal pain. She was reviewed at 1 month postlaparotomy for recurrent pelvic abscess and was finally diagnosed to have an OHVIRA syndrome, 11 years after her first clinical presentation. Excision of the vaginal septum completely resolved her symptoms. We are reporting this case to highlight the clinical implications resulting from the delayed diagnosis, to look into factors contributing to the delay and to highlight the importance of having a high index of suspicion to diagnose this unique condition.

Matched MeSH terms: Congenital Abnormalities/diagnosis; Congenital Abnormalities/surgery
Birth defects in the offspring of non-Caucasian, non-Indigenous women in Western Australia

Kwon S, Bower C, English D

Birth Defects Res. Part A Clin. Mol. Teratol., 2003 Jul;67(7):515-21.
PMID: 14565623

Birth defects in infants born to non-Caucasian, non-Indigenous mothers in Australia have not been described in detail previously.

Matched MeSH terms: Congenital Abnormalities/epidemiology*
A population-based study of birth defects in Malaysia

Thong MK, Ho JJ, Khatijah NN

Ann Hum Biol, 2005 Mar-Apr;32(2):180-7.
PMID: 16096215 DOI: 10.1080/03014460500075332

Birth defects are one of the leading causes of paediatric disability and mortality in developed and developing countries. Data on birth defects from population-based studies originating from developing countries are lacking. One of the objectives of this study was to determine the epidemiology of major birth defects in births during the perinatal period in Kinta district, Perak, Malaysia over a 14-month period, using a population-based birth defect register. There were 253 babies with major birth defects in 17,720 births, giving an incidence of 14.3/1000 births, a birth prevalence of 1 in 70. There were 80 babies with multiple birth defects and 173 with isolated birth defects. The exact syndromic diagnosis of the babies with multiple birth defects could not be identified in 18 (22.5%) babies. The main organ systems involved in the isolated birth defects were cardiovascular (13.8%), cleft lip and palate (11.9%), clubfeet (9.1%), central nervous system (CNS) (including neural tube defects) (7.9%), musculoskeletal (5.5%) and gastrointestinal systems (4.7%), and hydrops fetalis (4.3%). The babies with major birth defects were associated with lower birth weights, premature deliveries, higher Caesarean section rates, prolonged hospitalization and increased specialist care. Among the cohort of babies with major birth defects, the mortality rate was 25.2% during the perinatal period. Mothers with affected babies were associated with advanced maternal age, birth defects themselves or their relatives but not in their other offspring, and significantly higher rates of previous abortions. The consanguinity rate of 2.4% was twice that of the control population. It is concluded that a birth defects register is needed to monitor these developments and future interventional trials are needed to reduce birth defects in Malaysia.

Matched MeSH terms: Congenital Abnormalities/epidemiology*
Seroprevalence of cytomegalovirus infection in pregnant women and associated role in obstetric complications: a preliminary study

Saraswathy TS, Az-Ulhusna A, Asshikin RN, Suriani S, Zainah S

Southeast Asian J Trop Med Public Health, 2011 Mar;42(2):320-2.
PMID: 21710852

The objective of this study was to determine the seroprevalence of cytomegalovirus (CMV) infections through antenatal screening data and the association of this virus with obstetric complications. Serum samples from 125 apparently healthy pregnant women sent for antenatal screening from various hospitals in Malaysia between January 2007 and December 2008, were examined for CMV specific IgM and IgG antibodies using an enzyme-linked immunosorbent assay method. Of the 125 pregnant women tested, anti-CMV IgG antibody was found in 105 (84%) of the cases and anti-CMV IgM in 9 cases (7.2%). Both CMV IgM and IgG were also found in another 37 women whose serum samples were sent for investigation of various obstetric complications: 17 cases of spontaneous abortions, 15 cases of fetal anomalies detected during ultrasound examination, 1 case of incomplete abortion, 3 cases with premature delivery of infant with congenital anomalies and 1 case of infertility. Our preliminary data which only represented a small study group has shown the prevalence of CMV infection among the local population and the association of CMV in obstetric complications.

Matched MeSH terms: Congenital Abnormalities/virology
Fulltext Massively parallel sequencing of patients with intellectual disability, congenital anomalies and/or autism spectrum disorders with a targeted gene panel

Brett M, McPherson J, Zang ZJ, Lai A, Tan ES, Ng I, et al.

PLoS One, 2014;9(4):e93409.
PMID: 24690944 DOI: 10.1371/journal.pone.0093409

Developmental delay and/or intellectual disability (DD/ID) affects 1-3% of all children. At least half of these are thought to have a genetic etiology. Recent studies have shown that massively parallel sequencing (MPS) using a targeted gene panel is particularly suited for diagnostic testing for genetically heterogeneous conditions. We report on our experiences with using massively parallel sequencing of a targeted gene panel of 355 genes for investigating the genetic etiology of eight patients with a wide range of phenotypes including DD/ID, congenital anomalies and/or autism spectrum disorder. Targeted sequence enrichment was performed using the Agilent SureSelect Target Enrichment Kit and sequenced on the Illumina HiSeq2000 using paired-end reads. For all eight patients, 81-84% of the targeted regions achieved read depths of at least 20×, with average read depths overlapping targets ranging from 322× to 798×. Causative variants were successfully identified in two of the eight patients: a nonsense mutation in the ATRX gene and a canonical splice site mutation in the L1CAM gene. In a third patient, a canonical splice site variant in the USP9X gene could likely explain all or some of her clinical phenotypes. These results confirm the value of targeted MPS for investigating DD/ID in children for diagnostic purposes. However, targeted gene MPS was less likely to provide a genetic diagnosis for children whose phenotype includes autism.

Matched MeSH terms: Congenital Abnormalities/diagnosis; Congenital Abnormalities/genetics*
Stem cell genes are poorly expressed in chondrocytes from microtic cartilage

Ishak MF, Chua KH, Asma A, Saim L, Aminuddin BS, Ruszymah BH, et al.

Int J Pediatr Otorhinolaryngol, 2011 Jun;75(6):835-40.
PMID: 21543123 DOI: 10.1016/j.ijporl.2011.03.021

This study was aimed to see the difference between chondrocytes from normal cartilage compared to chondrocytes from microtic cartilage. Specific attentions were to characterize the growth of chondrocytes in terms of cell morphology, growth profile and RT-PCR analysis.

Matched MeSH terms: Congenital Abnormalities/genetics*; Congenital Abnormalities/metabolism; Congenital Abnormalities/pathology*
Transposition of the viscera

Monteiro ES

Journal of the Malaya Branch of the British Medical Association, 1940;4:303-13.

1. Three cases of situs inversus are described and the clinical and aetiological factors are discussed briefly.
2. This abnormality occurring in father and son whose family history indicates a great degree of consaguinity seems to support the view held by Cockayne that it is a recessive inheritance.
3. Situs inversus when complete seems to cause no disability. When incomplete as in examples of isolated dextrocardia, congenital heart diseases are commonly seen in association with it. Other congenital malformations may also co-exist. Recently the syndrome of hypertrophic rhinitis, nasal polyposis and sinusitis and bronchiectasis have been encountered in association with transposition of the viscera.

Matched MeSH terms: Congenital Abnormalities
A review of radiation hazards with special reference to diagnostic radiology

Ang AH

Med J Malaysia, 1973 Dec;28(2):75-9.
PMID: 4276302
Matched MeSH terms: Congenital Abnormalities/etiology
Fulltext Progestogen for treating threatened miscarriage

Wahabi HA, Fayed AA, Esmaeil SA, Bahkali KH

Cochrane Database Syst Rev, 2018 Aug 06;8(8):CD005943.
PMID: 30081430 DOI: 10.1002/14651858.CD005943.pub5

BACKGROUND: Miscarriage is a common complication encountered during pregnancy. It is defined as spontaneous pregnancy loss before 20 weeks' gestation. Progesterone's physiological role is to prepare the uterus for the implantation of the embryo, enhance uterine quiescence and suppress uterine contractions, hence, it may play a role in preventing rejection of the embryo. Inadequate secretion of progesterone in early pregnancy has been linked to the aetiology of miscarriage and progesterone supplementation has been used as a treatment for threatened miscarriage to prevent spontaneous pregnancy loss. This update of the Cochrane Review first published in 2007, and previously updated in 2011, investigates the evidence base for this practice.
OBJECTIVES: To determine the efficacy and the safety of progestogens in the treatment of threatened miscarriage.
SEARCH METHODS: We searched Cochrane Pregnancy and Childbirth's Trials Register, ClinicalTrials.gov and the WHO International Clinical Trials Registry Platform (ICTRP) (8 August 2017) and reference lists of retrieved trials.
SELECTION CRITERIA: Randomised, quasi-randomised or cluster-randomised controlled trials, that compared progestogen with placebo, no treatment or any other treatment for the treatment of threatened miscarriage in women carrying singleton pregnancy.
DATA COLLECTION AND ANALYSIS: At least two review authors assessed the trials for inclusion in the review, assessed trial quality and extracted the data and graded the body of evidence.
MAIN RESULTS: We included seven trials (involving 696 participants) in this update of the review. The included trials were conducted in different countries, covering the full spectrum of the World Bank's economic classification, which enhances the applicability of evidence drawn from this review. Two trials were conducted in Germany and Italy which are high-income countries, while four trials were conducted in upper-middle income countries; two in Iran, one in Malaysia and the fourth in Turkey, and the seventh trial was conducted in Jordan, which is a lower-middle income country. In six trials all the participants met the inclusion criteria and in the seventh study, we included in the meta-analysis only the subgroup of participants who met the inclusion criteria. We assessed the body of evidence for the main outcomes using the GRADE tool and the quality of the evidence ranged from very low to moderate. Downgrading of evidence was based on the high risk of bias in six of the seven included trials and a small number of events and wide confidence intervals for some outcomes.Treatment of miscarriage with progestogens compared to placebo or no treatment probably reduces the risk of miscarriage; (risk ratio (RR) 0.64, 95% confidence interval (CI) 0.47 to 0.87; 7 trials; 696 women; moderate-quality evidence). Treatment with oral progestogen compared to no treatment also probably reduces the miscarriage rate (RR 0.57, 95% CI 0.38 to 0.85; 3 trials; 408 women; moderate-quality evidence). However treatment with vaginal progesterone compared to placebo, probably has little or no effect in reducing the miscarriage rate (RR 0.75, 95% CI 0.47 to 1.21; 4 trials; 288 women; moderate-quality evidence). The subgroup interaction test indicated no difference according to route of administration between the oral and vaginal subgroups of progesterone.Treatment of preterm birth with the use of progestogens compared to placebo or no treatment may have little or no effect in reducing the rate of preterm birth (RR 0.86, 95% CI 0.52 to 1.44; 5 trials; 588 women; low-quality evidence).We are uncertain if treatment of threatened miscarriage with progestogens compared to placebo or no treatment has any effect on the rate of congenital abnormalities because the quality of the evidence is very low (RR 0.70, 95% CI 0.10 to 4.82; 2 trials; 337 infants; very-low quality evidence).
AUTHORS' CONCLUSIONS: The results of this Cochrane Review suggest that progestogens are probably effective in the treatment of threatened miscarriage but may have little or no effect in the rate of preterm birth. The evidence on congenital abnormalities is uncertain, because the quality of the evidence for this outcome was based on only two small trials with very few events and was found to be of very low quality.

Matched MeSH terms: Congenital Abnormalities/epidemiology
Combined team management of diabetes mellitus in pregnancy

Ng CS, Lim LS, Chng KP, Lim P, Cheah JS, Yeo PP, et al.

Ann Acad Med Singap, 1985 Apr;14(2):297-302.
PMID: 4037689

225 women with diabetes in pregnancy were managed by a team of obstetricians, physicians (endocrinologists) and paediatricians from the National University of Singapore. A protocol of management was formulated and followed. The incidence of 1.1% or 1 in 90 pregnancies was found, with significantly higher incidence in Indians and lower in Malays. There were 37 established diabetics and 188 diagnosed during pregnancy. Of these (188), 74 were gestational diabetics. All the women were treated with Insulin and Diet or Diet alone. 177 (79%) were treated with Insulin and Diet. Blood sugar profiles were done for monitoring diabetic control. 72.8% of the women were between para 0 and 1 and 85.2% between the ages of 20 and 34. 72.5% of the women delivered at 38 weeks gestation or later. 48.9% went into spontaneous labour, 32.4% were induced and 18.7% had elective caesarean section. 62.2% of the women had labour of less than 12 hours. The overall caesarean section rate was 41.7%. There were 3 stillbirths and 2 neonatal deaths. The perinatal mortality rate was 2.2%. Thirteen babies had congenital malformations (5.8%). 77.8% of the babies had Apgar score of 7 or more at 5 minutes after delivery. 79.1% of the babies weighed between 2.5 kgm and 3.9 kgm. Pre-eclamptic toxaemia was the commonest complication in pregnancy followed by Urinary Tract Infection and Polyhydramnios. Postpartum complications in the mother were confined to 14 women (6.2%), and wound infection or breakdown was the commonest cause.

Matched MeSH terms: Congenital Abnormalities/etiology

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