MyMedR

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: Fetal Diseases/diagnosis; Fetal Diseases/genetics; Fetal Diseases/epidemiology

Neonatal chylous ascites--report of three cases and review of the literature

Chye JK, Lim CT, Van der Heuvel M

Pediatr Surg Int, 1997 Apr;12(4):296-8.

PMID: 9099650

Three cases of neonatal chylous ascites (CCA) were managed in the neonatal unit, University Hospital, Kuala Lumpur, over the past 9 years. Fetal ascites and polyhydramnios were the sole abnormalities detected in all three babies by antenatal ultrasonography. They were born at 36 weeks' gestation and their birth weights ranged from 3.0 kg to 3.8 kg. All three infants had abdominal distension at birth. Milky ascitic fluid was obtained after starting enteral feedings. Analysis of the ascitic fluid revealed a raised white blood cell count (predominantly lymphocytic) and triglycerides (1.4 - 3.8 mmol/l), cholesterol (1.6 - 2.8 mmol/l), and protein levels (25 - 41 g/l). Conservative management with skimmed milk and medium-chain triglycerides in one infant and Pregestimil in another was instituted. these two infants with CCA were clinically normal when reviewed at 19 months and 3.5 years of age. The third infant had a gut malrotation and associated pyloric septum; he died from complications of a laparotomy. The literature on this rare condition is reviewed.

Matched MeSH terms: Fetal Diseases/epidemiology; Fetal Diseases/ultrasonography

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: Fetal Diseases/diagnosis; Fetal Diseases/genetics

Congenital varicella syndrome

Lee, Eric K.H., Cheah, Irene G.S.

Malaysian Journal of Child Health, 1997;9(1):97-101.

MyJurnal

Congenital varicella syndrome is a rare outcome of early primary maternal varicella zoster infection. The neuromuscular anomalies, skeletal defects and skin lesions of such a case are described in our case report. The diagnosis of congenital varicella syndrome, the prenatal risk and management of primary maternal varicella infection in pregnancy are also discussed.

Matched MeSH terms: Fetal Diseases

Fulltext Prenatal diagnosis of intestinal obstruction due to ileal atresia

Raman S, Chan LL, Chang KW, Rachagan SP

Med J Malaysia, 1992 Sep;47(3):228-30.

PMID: 1491650

A case of intestinal obstruction due to ileal atresia where the diagnosis was made prenatally by ultrasound is presented. Close monitoring of the fetus was done ultrasonographically to look for any evidence of meconium peritonitis. The baby was delivered preterm but weighed 3.3 kg. Laparotomy and enterostomy was done and the baby is currently well.

Matched MeSH terms: Fetal Diseases/ultrasonography*

Fulltext Prenatal diagnosis of infantile polycystic kidneys: a case report

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: Fetal Diseases/diagnosis*

Amnioscopy in high risk pregnancy

Kuah KB, Yusof K

Med J Malaya, 1972 Sep;27(1):63-8.

PMID: 4264828

Matched MeSH terms: Fetal Diseases/diagnosis*

Fulltext Evaluating the deciding factors for termination of pregnancy with fetal anomaly – experience from two centers in Malaysia

Nazimah, I., Noor Sham, Y.L., Khairun Niza, C.N., Mohd Ikhsan, S., Nadzratulaiman, N., Juliana, Y.

International e-Journal of Science, Medicine & Education, 2010;4(2):-.

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: Fetal Diseases

Aetiology of deafness in children from a school for the deaf in Malaysia

Elango S

Int J Pediatr Otorhinolaryngol, 1993 May;27(1):21-7.

PMID: 8314665

One hundred and sixty-five children from the school for the deaf were screened to find out the aetiology of deafness. The screening included routine ophthalmological examination. Aetiology was unknown in 33 children (20%). Prenatal infection was found to be the cause of deafness in 61 cases (36.96%). Rubella eye signs were found in 59 children (35.76%), whereas the history of rubella infection during the first trimester of pregnancy was found in only 33 of these cases (55.93%). Perinatal complications were seen in 20 children (12.12%). Twenty children (12.12%) had meningitis during their early childhood period. Routine ophthalmological examination helped us to pick up cases with rubella eye signs. Ophthalmological examination should be included as part of any study done to find out the cause of deafness.

Matched MeSH terms: Fetal Diseases

Effect of maternal perceived stress during pregnancy on gestational diabetes mellitus risk: A prospective case-control study

Mishra S, Shetty A, Rao CR, Nayak S, Kamath A

Diabetes Metab Syndr, 2020 07 08;14(5):1163-1169.

PMID: 32673836 DOI: 10.1016/j.dsx.2020.06.048

BACKGROUND AND AIMS: A variety of risk factors have been reported for the development of gestational diabetes mellitus (GDM). But limited review on the role of antenatal perceived stress necessitated the design of the present study to evaluate the association between GDM and perceived stress during pregnancy.

METHODS: A prospective case-control study was carried out among 100 GDM cases and 273 matched controls, attending regular antenatal clinic at two private hospitals of Karnataka. Data was collected by personal interviews using a standard questionnaire. Perceived stress was assessed using the Cohen 10-item Perceived Stress Scale. Score of ≥20 was identified as high stress. Statistical Package for the Social Sciences version 15 was used for analysis.

RESULTS: Exposure rates for high maternal perceived stress among cases during pregnancy were noted. The odds of GDM were 13 folds higher among those with high antenatal stress (≥20) compared to those with low (<20) (p

Matched MeSH terms: Fetal Diseases

Fulltext Prenatal Diagnosis, Management, and Outcome of Fetal Subdural Haematoma: A Case Report and Systematic Review

Cheung KW, Tan LN, Seto MTY, Moholkar S, Masson G, Kilby MD

Fetal Diagn Ther, 2019;46(5):285-295.

PMID: 30861511 DOI: 10.1159/000496202

BACKGROUND: Fetal subdural haematoma (SDH) is associated with poor prognosis.

OBJECTIVE: The conflicting evidence from the literature presents a challenge in prenatal counselling. We present a case study and systematic review of the literature for the management and outcome of fetal SDH.

METHODS: Systematic search of electronic database.

RESULTS: A total 45 cases were extracted from 39 papers. Prenatal ultrasonographic features were intracranial echogenicity (42%), lateral ventriculomegaly (38%), presence of an intracranial mass (31%), macrocephaly (24%), midline deviation of cerebral falx (20%), and intracranial fluid collection (11%). Further secondary features were noted including reversed diastolic flow in the middle cerebral artery (11%), echogenic bowel (4%), hydrops fetalis (2%), and elevated middle cerebral artery peak systolic velocity (2%) (all highly likely to be associated with fetal anaemia). The rates of termination of pregnancy, stillbirth, and neonatal death were 18% (8/45), 16% (7/45), and 11% (5/45), respectively. Overall, therefore, the fetal and perinatal mortality was 32% (12/37). Amongst the 24 survivors with available neurological outcome, 42% (10/24) and 58% (14/24) had abnormal and normal neurological outcome, respectively. Underlying aetiology of fetal SDH was not identified in 47% (21/45). Fetal SDH with an identifiable underlying aetiology was the only factor associated with a higher chance of normal neurological outcome when compared to fetal SDH without a detectable cause (78.5 vs. 21.4%, p = 0.035).

CONCLUSIONS: Stillbirth and neonatal death occurred in a significant proportion of fetal SDH. 58% of survivors had normal neurological outcome, and better prognosis was seen in SDH with identifiable underlying aetiology.

Matched MeSH terms: Fetal Diseases

Fulltext Permissibility of prenatal diagnosis and abortion for fetuses with severe genetic disorder: type 1 spinal muscular atrophy

Sasongko TH, Salmi AR, Zilfalil BA, Albar MA, Mohd Hussin ZA

Ann Saudi Med, 2010 Nov-Dec;30(6):427-31.

PMID: 21060155 DOI: 10.4103/0256-4947.72259

Abortion has been largely avoided in Muslim communities. However, Islamic jurists have established rigorous parameters enabling abortion of fetuses with severe congenital abnormalities. This decision-making process has been hindered by an inability to predict the severity of such prenatally-diagnosed conditions, especially in genetic disorders with clinical heterogeneity, such as spinal muscular atrophy (SMA). Heterogeneous phenotypes of SMA range from extremely severe type 1 to very mild type 4. Advances in molecular genetics have made it possible to perform prenatal diagnosis and to predict the types of SMA with its potential subsequent severity. Such techniques will make it possible for clinicians working in predominantly Muslim countries to counsel their patients accurately and in harmony with their religious beliefs. In this paper, we discuss and postulate that with our current knowledge of determining SMA types and severity with great accuracy, abortion is legally applicable for type 1 SMA.

Matched MeSH terms: Fetal Diseases

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