Displaying publications 21 - 40 of 2394 in total

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  1. Fulltext Comparison of patient controlled epidural analgesia (PCEA) with basal infusion and programmed intermittent epidural bolus (PIEB) with PCEA in labour analgesia – A year retrospective study
    Zawiah Kassim, Norliza Mohd Nor, Ariffah Mokhtar, Suhaina Mohamad, Sarina Osman, Isqandar Adnan
    Journal of Clinical and Health Sciences, 2021;6(1):25-31.
    MyJurnal
    Introduction: Over three decades, patient-controlled epidural analgesia with a basal infusion
    regimen (PCEA+BI) has successfully improved labour analgesia quality due to its advantage
    in allowing self-titration by the parturients. Recently, a newer programmed intermittent epidural
    bolus with PCEA regimen (PIEB+PCEA) was suggested to improve the epidural spread of
    local anaesthetic hence resulted in better analgesia quality and higher maternal satisfaction.
    Methods: We conducted a one-year retrospective analysis of data from obstetric analgesia
    service record sheet and hospital information system comparing maternal satisfaction towards
    their labour analgesia quality, mode of delivery and neonatal Apgar scores between these two
    methods of epidural delivery techniques. A total of 343 parturients were recruited in this study
    (PCEA+BI n=171, PIEB+PCEA n=172). Results: There were no significant difference in
    maternal satisfaction between the two groups (P=0.398) with a higher percentage of excellent
    satisfaction were found in the PIEB+PCEA group (PIEB+PCEA 146/172 (84.9%) vs PCEA+BI
    138/171 (80.7%)). No significant difference in the mode of delivery (P=0.296). However, the
    PIEB+PCEA group shown a higher spontaneous vaginal delivery rate (PIEB+PCEA 87/172
    (50.6%) vs PCEA+BI 70/171 (40.9%) and lower Caesarean delivery rate (PIEB+PCEA 71/172
    (41.3%) vs PCEA+BI 87/171 (50.9%)). Despite statistically significant differences found in
    Apgar scores at 1 minute (P=0.036), there was no significant difference in the scores at 5
    minutes (P=0.107). Mean Apgar scores (SD) at 1 minute and 5 minutes for PIEB+ PCEA were
    7.77(0.85) and 8.91(0.55) respectively and for PCEA + basal infusion, the scores for 1 minute
    and 5 minutes were 7.92(0.39) and 8.98(0.19) respectively. Conclusion: PIEB with PCEA is
    a newer epidural delivery technique for labour analgesia which produces a comparable
    outcome to PCEA with basal infusion.
    Matched MeSH terms: Pregnancy
  2. Fulltext Unbalanced chromosomal translocation: a cause of recurrent spontaneous abortion
    Zarina AL, Jamil MA, Ng SP, Rohana J, Yong SC, Salwati S, et al.
    Med J Malaysia, 2006 Jun;61(2):260-2.
    PMID: 16898328 MyJurnal
    Recurrent spontaneous abortion, defined as three consecutive abortions, occurs in approximately 1% to 2% of couples. Although the cause is unknown in up to 50% of cases, about 5% of these couples are found to be a balanced translocation carrier. We report a case in which the mother was identified to be a translocation carrier following the birth of a baby with multiple congenital abnormalities.
    Matched MeSH terms: Pregnancy
  3. Quantitative analysis of fetal DNA in maternal plasma in gestational diabetes mellitus, iron deficiency anemia and gestational hypertension pregnancies
    Zamanpoor M, Rosli R, Yazid MN, Husain Z, Nordin N, Thilakavathy K
    J Matern Fetal Neonatal Med, 2013 Jul;26(10):960-6.
    PMID: 23339569 DOI: 10.3109/14767058.2013.766710
    OBJECTIVE: To quantify circulating fetal DNA (fDNA) levels in the second and third trimesters of normal healthy pregnant individuals and pregnant women with the following clinical conditions: gestational diabetes mellitus (GDM), iron deficiency anemia and gestational hypertension (GHT).
    METHODS: The SRY gene located on the Y chromosome was used as a unique fetal marker. The fDNA was extracted from maternal plasma and the SRY gene concentrations were measured by quantitative real-time polymerase chain reaction (PCR) amplification using TaqMan dual labeled probe system.
    RESULTS: No significant differences were observed in the mean fDNA concentration between normal and GDM pregnancy samples (p > 0.05) and also between normal and anemic pregnancy samples (p > 0.05) in both trimesters, but significant differences were observed between the third trimester normal and GHT pregnancy samples (p = 0.001). GDM and iron deficiency anemia do not affect the levels of fDNA in maternal plasma while GHT significantly elevates the levels of fDNA in maternal plasma.
    CONCLUSIONS: Increased amount of circulating fDNA in maternal plasma could be used for early identification of adverse pregnancies. GDM and anemia do not affect the levels of fDNA in maternal plasma while GHT significantly elevates the levels of fDNA in maternal plasma. Hence, the elevated fDNA values could be used as a potential screening marker in pregnancies complicated with GHT but not with GDM and iron deficiency anemia.
    Matched MeSH terms: Pregnancy/blood; Pregnancy Complications/blood; Pregnancy Complications/genetics; Hypertension, Pregnancy-Induced/blood*; Hypertension, Pregnancy-Induced/genetics
  4. Fulltext Lower urinary tract symptoms (LUTS) among women attending gynaecology clinic and its effect on their social life
    Zalina, N., Ruqaiyah, B. R., Hamizah, I., Roszaman, R., Mokhtar, A., Rozihan, I., et al.
    International Medical Journal Malaysia, 2016;15(1):97-102.
    MyJurnal
    Objective: Lower Urinary Tract Symptoms (LUTS) is a highly prevalent disease which varies by geography
    and culture. It influences the quality of life and has social implication. The objectives of this study are to
    estimate the prevalence of LUTS among women attending our gynaecology clinic, the associated risk factors
    and their quality of life. Method: This is a cross sectional study on women attending gynaecology clinic in a
    tertiary centre. Participants were given 3 sets of validated self-answered questionnaire, UDI-6, IIQ-7 and
    OAB V8. Results: the prevalence of luts is 50.6% which is common among Malay women. Forty nine percent
    is due to stress urinary incontinence (SUI). The risk of LUTS is significantly associated with obesity (AOR =
    12.14 95% CI = 1.21 to 121.99, p – value = 0.034), higher parity (AOR = 1.68 95% CI = 1.26 to 2.24, p – value =
    Matched MeSH terms: Pregnancy
  5. Association of parental body mass index before pregnancy on infant growth and body composition: Evidence from a pregnancy cohort study in Malaysia
    Zalbahar N, Jan Mohamed HJ, Loy SL, Najman J, McIntyre HD, Mamun A
    Obes Res Clin Pract, 2016 09;10 Suppl 1:S35-S47.
    PMID: 26321098 DOI: 10.1016/j.orcp.2015.08.002
    BACKGROUND AND OBJECTIVES: Parental body mass index (BMI) is strongly linked with the development of offspring overweight and obesity. However, there are a limited number of studies focusing on the association of parental body mass index before pregnancy on offspring growth and body composition in early life, particularly in developing countries.

    METHODS: Data from the University Sains Malaysia (USM) Pregnancy Cohort which consists of 153 mother-offspring pairs were used. Data were collected using interview-administered questionnaires and anthropometric measurements were also obtained. Multiple linear regression and generalised equation estimation (GEE) were used to examine the direction and impact of the association between parental BMI and child growth and body composition (weight for age, height for age, body mass index for age, weight for height and fat mass at age 2m, 6m, and 12m). Potential confounders, including validated measures of maternal diets and physical activity during pregnancy, were considered.

    RESULTS: Of 153 parents, one-quarter of the mothers and 42.2% of the fathers, respectively, were overweight or obese before pregnancy. A significant association was found between maternal BMI and child's weight for height z-score (WHZ) and body mass index for age z-score (BAZ).

    CONCLUSIONS: Having high pre-pregnancy BMI may increase BMI and WAZ of offspring in early life. Findings from this study emphasise the importance of monitoring maternal weight status, particularly before and during pregnancy and early life of offspring among Malaysians.

    Matched MeSH terms: Pregnancy
  6. Parental pre-pregnancy obesity and the risk of offspring weight and body mass index change from childhood to adulthood
    Zalbahar N, Najman J, McIntyre HD, Mamun A
    Clin Obes, 2017 Aug;7(4):206-215.
    PMID: 28557382 DOI: 10.1111/cob.12200
    The purpose of this study was to examine the association of parental pre-pregnancy weight and body mass index (BMI) on offspring weight and BMI change from childhood to adulthood. We analysed BMI data from a subsample of parents (n = 1494) from the Mater-University of Queensland Study of Pregnancy cohort that started in the early 1980s in Brisbane, Australia: data were collected at pre-pregnancy and then also for offspring at 5, 14 and 21-year follow-ups. Multiple regression for continuous outcomes and multinomial regression for categorical outcomes were performed. A total of 14.7% of offspring experienced BMI change from normal at 5 years to overweight or obese (OW/OB) at 14 years, 15.3% of normal at 14 years to OW/OB at 21 years and 22.8% from normal at 5 years to OW/OB at 21 years. Overall, the strength of the association of parental BMI with offspring BMI was stronger as offspring become older. Pre-pregnancy parental BMI differentially impacts offspring OW/OB across the life course. For every unit increase in paternal and maternal BMI z-score, offspring BMI z-score increased, on average, by between 0.15% (kg m-2) and 0.24% (kg m-2) throughout all three stages of life when both parents were OW/OB; these associations were stronger than with one parent. Parental pre-pregnancy BMI and OW/OB is a strong predictor of offspring weight and BMI change from early life to adulthood.
    Matched MeSH terms: Pregnancy
  7. Inner myometrial laceration: Case report and literature review
    Zakaria ZA, Mohammad Razin NS, Abas S
    J Obstet Gynaecol Res, 2020 Nov;46(11):2442-2445.
    PMID: 32808401 DOI: 10.1111/jog.14435
    Inner myometrial laceration is a rarely encountered intrapartum uterine trauma, which usually present as post-partum hemorrhage (PPH). The diagnosis can only be confirmed by direct examination of the uterine cavity but it should be suspected in PPH with good uterine contraction. Discussed here are the characteristics and management of the reported cases including two women managed at our center.
    Matched MeSH terms: Pregnancy
  8. 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: Pregnancy
  9. Diabetes alters the mRNA expression of insulin-like growth factors and their receptors in the mouse fallopian tube and uterus during the preimplantation stages
    Zakaria R, Rajikin MH, Yaacob NS, Nor NM
    Reprod Biol, 2007 Mar;7(1):41-53.
    PMID: 17435832
    The possible role of insulin-like growth factors (IGFs) and their receptors (IGFRs) in the pathogenesis of diabetic embryopathy was investigated. Sexually mature female ICR mice of 6-8 weeks old were made diabetic by a single intraperitoneal injection with 200 mg/kg streptozotocin ten days prior to mating. Fallopian tubes and uterine tissues were obtained from the superovulated diabetic and normal mice 48, 72 and 96 hours following human chorionic gonadotropin (hCG) injection. The mRNA expression of IGF-1 and IGF-2 as well as their receptors was determined in the tissues using Real-time Polymerase Chain Reaction (Real-time PCR). The mRNA expression of IGF-1 in the fallopian tube and uterus of the diabetic mice was significantly lower 72 and 96 hours after hCG treatment, respectively, as compared to the controls. The mRNA expression of IGF-1R at 96 hours post-hCG treatment was significantly higher in the fallopian tube and lower in the uterus of the diabetic mice as compared to the controls. The mRNA expression IGF-2 in the fallopian tube was significantly higher 48 and 96 hours after hCG treatment, but was lower in the uterus of diabetic mice 96 hours after hCG treatment as compared to controls. The mRNA expression of IGF-2R in the diabetic mice was significantly higher 48 and 96 hours (the fallopian tube) and 48 hours (uterus) after hCG treatments as compared to the controls. In conclusion, an alteration in mRNA expression of IGFs and their receptors in the diabetic mice as observed in this study could possibly result in diabetic embryopathy.
    Matched MeSH terms: Pregnancy; Pregnancy in Diabetics/metabolism*
  10. Immunolocalization of insulin-like growth factors and their receptors in the diabetic mouse oviduct and uterine tissues during the preimplantation period
    Zakaria R, Rajikin MH, Yaacob NS, Nor NM
    Acta Histochem, 2009;111(1):52-60.
    PMID: 18676006 DOI: 10.1016/j.acthis.2008.04.002
    The aim of the present study was to analyze the immunolocalization of insulin-like growth factor (IGF)-1 and IGF-2 and their receptors in the oviduct and uterus of control and diabetic mice. Sexually mature female ICR mice aged 6-8 weeks were rendered diabetic by streptozotocin (200 mg/kg, administered intraperitoneally). Oviductal and uterine tissues were obtained from the superovulated control and diabetic mice at 48, 72 and 96 h post-human chorionic gonadotropin (hCG) treatment. Localization of IGF-1, IGF-2, IGF-1R and IGF-2R was determined by immunohistochemistry and a semi-quantitative scoring of immunolabelling was performed using a standardized 5-point system. The immunohistochemical scorings for both IGF-1 and IGF-1R were significantly decreased in the oviducts of diabetic mice at 96 h post-hCG treatment. The scores for IGF-2 were significantly increased in the oviducts of diabetic mice at 48 and 72 h post-hCG treatment, and for IGF-2R at 72 h post-hCG treatment. However, there was no significant difference in the scores of IGFs and their receptors in the uterus of control and diabetic mice. In conclusion, the oviductal immunolabelling for IGFs and their receptors was significantly altered by maternal diabetes, which may be of importance in the pathogenesis of preimplantation diabetic embryopathy.
    Matched MeSH terms: Pregnancy
  11. Hyperthyroidism in pregnancy
    Zainurrashid Z, Shaker AaRH
    Family Physician, 2005;13:2-4.
    Thyroid diseases are common in women, including at the time of pregnancies. Many typical features of hyperthyroidism are common in normal pregnancies and this may delay or mask the diagnosis. Uncontrolled thyrotoxicosis increases the rate of miscarriage, intrauterine growth restriction (IUGR), premature labour and perinatal mortality. Multi-disciplinary efforts are required to achieve optimal control of thyrotoxicosis. Anti-thyroid drugs are safe and should be used with the lowest possible doses. Radioiodine treatment is contraindicated during pregnancy and lactation. Indications of surgery include: compression symptoms, thyroid malignancy, non-compliance to medications or when the patient develop drugs side effects.  Keywords: Hyperthyroidism, pregnancy
    Matched MeSH terms: Pregnancy
  12. Fulltext Acute appendicitis in pregnancy: a diagnostic and management challenge
    Zainur Rashid, Z., Sulaiha, S.A., Azmi, M.N.
    International Medical Journal Malaysia, 2014;13(1):77-80.
    MyJurnal
    Acute appendicitis is the most common extra-uterine surgical emergency encountered during pregnancy, but an accurate diagnosis is still an enigma. Anatomical shifting of the appendix by the enlarging uterus makes the clinical and sonographic diagnosis difficult. Prompt diagnosis and treatment are essential to prevent perforation, which increases the risk of fetal and maternal death. Surgical intervention, either by an open laparotomy or laparoscopy is the most appropriate treatment for appendicitis. This article reviews the epidemiology, clinical diagnosis, investigation, complications and treatment of acute appendicitis in pregnancy.
    Matched MeSH terms: Pregnancy
  13. Fulltext "Postpartum morbidity--what we can do"
    Zainur RZ, Loh KY
    Med J Malaysia, 2006 Dec;61(5):651-6.
    PMID: 17623974
    Postpartum is a crucial period for a mother. During this period a mother is going through the physiological process of uterine involution and at the same time adapting to her new role in the family. Many postpartum complications occur during this period. Among the important obstetric morbidities are postpartum hemorrhage, pregnancy related hypertension, pulmonary embolism and puerperal sepsis. Common surgical complications are wound breakdown, breast abscess and urinary fecal incontinence. Medical conditions such as anemia, headache, backache, constipation and sexual problems may also be present. Unrecognized postpartum disorders can lead to physical discomfort, psychological distress and a poor quality of life for the mothers. Providing quality postnatal care including earlier identification of the problems (correction) and proper intervention will help the mother to achieve full recovery and restore her functional status back to the pre-pregnancy state sooner.
    Matched MeSH terms: Pregnancy; Pregnancy Complications/classification; Pregnancy Complications/therapy*; Hypertension, Pregnancy-Induced/therapy
  14. A pilot study to determine whether progestogen supplementation using dydrogesterone during the first trimester will reduce the incidence of gestational hypertension in primigravidae
    Zainul Rashid MR, Lim JF, Nawawi NH, Luqman M, Zolkeplai MF, Rangkuty HS, et al.
    Gynecol Endocrinol, 2014 Mar;30(3):217-20.
    PMID: 24552449 DOI: 10.3109/09513590.2013.860960
    Gestational hypertension (GH) remains one of the main causes of high maternal and perinatal morbidity and mortality worldwide with the highest incidence among primigravidae of about 10%-15%. However, it was noted that the incidence of GH in primigravidae who conceived following assisted reproductive technique (ART) or intrauterine insemination (IUI) supplemented with dydrogesterone during the first trimester was low.

    Study site: Obstetrics and Gynecology
    Department, Pusat Perubatan Universiti Kebangsaan Malaysia PPUKM
    Matched MeSH terms: Pregnancy; Pregnancy Trimester, First; Hypertension, Pregnancy-Induced/ethnology; Hypertension, Pregnancy-Induced/epidemiology; Hypertension, Pregnancy-Induced/physiopathology; Hypertension, Pregnancy-Induced/prevention & control*
  15. Fulltext Predictors of intrauterine insemination success
    Zainul MR, Ong FB, Omar MH, Ng SP, Nurshaireen A, Rahimah MD, et al.
    Med J Malaysia, 2006 Dec;61(5):599-607.
    PMID: 17623962 MyJurnal
    Intrauterine insemination (IUI) remains a therapeutic option within means of the majority of infertile couples in Malaysia. Therefore additional information on predictors of IUI success in the local context would provide a more concrete basis for counseling patients on expectations and treatment options. A retrospective analysis of 297 couples who underwent 445 IUI cycles from Jan 2005-Mar 2006 was undertaken. Four fifths were Malay with a mean paternal and maternal age of 35.53 +/- 5.82 (range 24-59) and 33.02 +/- 4.69 (range 21-46) years respectively. Causes of infertility were idiopathic (50%), endometriosis (17%) and anovulation/polycystic ovarian syndrome (15%). Almost 10% were oligoastenoteratozoospermic with another 23% oligozoospermic or astenozoospermic. Combined male and female factors occurred in 26%. A pregnancy rate (PR) of 9.4% per cycle; 14.1% per couple with a cumulative PR of 36.7% per 4 cycles was achieved. Those who became pregnant were significantly younger (31.29 +/- 4.43 vs. 33.21 +/- 4.68 years, p = 0.011) and had more follicles (13.95 +/- 9.72 vs. 11.43 +/- 6.67, p = 0.029) at the time of insemination. PR depreciated with maternal age and semen quality. Maternal and paternal age was inversely correlated to the number of follicles recruited (r = -0.30, p < 0.0005) and progressive sperm motility (r = -0.125, p = 0.013) respectively.
    Matched MeSH terms: Pregnancy; Pregnancy Rate*
  16. Fulltext Pregnancy with hypoplastic left lung complicated by pneumothorax and pulmonary embolism
    Zainudin LD, Abdul Hafidz MI, Zakaria AF, Mohd Zim MA, Ismail AI, Abdul Rani MF
    Respirol Case Rep, 2016 Mar;4(1):19-21.
    PMID: 26839696 DOI: 10.1002/rcr2.143
    We report a case of a 34-year-old lady with past history of asthma and pulmonary tuberculosis, who presented 5 weeks pregnant with acute dyspnea. Her chest X-ray showed left-sided complete lung collapse and concomitant right-sided pneumothorax. The pneumothorax was initially managed conservatively with a chest tube but due to its persistence despite suction, was subsequently changed to a Pneumostat(TM), with which she was later discharged. She had a normal echocardiography (ejection fraction [EF] 67%) at 5 weeks of gestation but developed pulmonary hypertension (EF 55%, pulmonary arterial pressure 40.7 mmHg) as the pregnancy progressed. She delivered a healthy baby at 35 weeks via elective lower section caesarean section with spinal anesthesia. We followed her up postnatally and noted the presence of left-sided pulmonary embolism, hypoplastic left lung, and left pulmonary artery. The management of this complex case involved a multidisciplinary effort between general medical, respiratory, obstetric, and cardiothoracic teams.
    Matched MeSH terms: Pregnancy
  17. Epilepsy in pregnancy - a primary care approach
    Zainuddin Z, Tan CK
    Family Physician, 2003;12:9-11.
    Epilepsy is the most common neurological disorder in pregnancy. The effects of epilepsy include congenital abnormalities which are increased 2-3 fold. The babies born suffer from haemorrhagic disease of newborn. Preconception management and folic acid supplementation is important in optimizing outcome. With close monitoring and proper management, more than 90% of mothers have no complications throughout their pregnancy. Hormonal contraception dosage need to be increased due to the enzyme inducing nature of the anti epileptics drugs.
    Matched MeSH terms: Pregnancy
  18. Hyperthyroidism in pregnancy
    Zainuddin Z, Shaker AAH
    Family Physician, 2005;13(3):2-4.
    MyJurnal
    Thyroid diseases are common in women, including at the time of pregnancies. Many typical features of hyperthyroidism are common in normal pregnancies and this may delay or mask the diagnosis. Uncontrolled thyrotoxicosis increases the rate of miscarriage, intrauterine growth restriction (IUGR), premature labour and perinatal mortality. Multi-disciplinary efforts are required to achieve optimal control of thyrotoxicosis. Anti-thyroid drugs are safe and should be used with the lowest possible doses. Radioiodine treatment is contraindicated during pregnancy and lactation. Indications of surgery include: compression symptoms, thyroid malignancy, non-compliance to medications or when the patient develop drugs side effects
    Matched MeSH terms: Pregnancy
  19. Fulltext Sociodemographic and foetal charateristics of mothers with premature deliveries in Hospital Tuanku Jaafar Seremban, Negeri Sembilan, Malaysia
    Zaini I, Ghani SN, Moy FM
    JUMMEC, 2008;11(2):59-65.
    MyJurnal
    This is a retrospective case control study conducted between 1 January 2005 and 30 June 2006 at the Hospital Tuanku Jaafar, Seremban, Malaysia. The objective was to study the maternal sociodemographics and foetal characteristics associated with premature delivery. There were 387 cases selected universally and 387 controls selected by using systematic random sampling involving every 13 cases. The patients were women who had delivered their babies before 37 completed weeks, while the control were women who had term deliveries during the same period. Data were collected using structured questionnaire through secondary data. Results showed that having multiple pregnancies (OR=8.33, 95% CI: 2.91, 23.84), congenital abnormality (OR=4.6, 95% CI: 0.98, 21.84) and intrauterine growth retardation (OR=15.59, 95% CI: 3.69, 65.82) were the risk factors of premature delivery. Being an ethnic Indian also raised the odds (OR=1.67, 95% CI: 1.14, 2.43) but this was not significant in the multivariate analysis. Other sociodemographic characteristics did not contribute significantly to the risk factors for premature delivery in this sample. In conclusion, foetal characteristics were found to be significantly associated with premature delivery after adjustment for other confounding factors.
    Study site: Hospital Tuanku Jaafar, Seremban, Negeri Sembilan, Malaysia
    Matched MeSH terms: Pregnancy; Pregnancy, Multiple
  20. 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: Pregnancy
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