Evidence-Triggers for Care of Patient with Cleft Lip and Palate at Srinagarind Hospital: Antenatal Care Unit.

Background: The abnormalities of cleft lip and palate (CLP) condition are the serious problems which always found in the northeastern region of Thailand. The treatment must be sustainably and continuously integrated by the interdisciplinary team, including registered nurses who take care of all nine organizations under the corporation among nurses who work at Tawanchai Cleft Center. Starting from the diagnosis of the fetus by the new technology along with medical knowledge which can diagnose the abnormalities since birth. The diagnosis of the fetus with CLP affects mental and health of mother, so the nurse who takes extended care of them needs to have the data in order to plan the integration treatment and prepare them to be ready of confronting to the crisis. Also, this is for the adaption of fetal abnormalities and the encouragement for their new baby. Hence, clinical evidence triggered for care of pregnant women with fetal CLP is really important. Objective: To trigger the clinical evidence of pregnant women whom found the fetal CLP at antenatal care unit, Srinagarind Hospital. Material and Method: This descriptive study of clinical evidence-triggers for care of pregnant women with fetal CLP is the part of the study in antenatal care clinic which was applied to use the clinical evidence-triggers of The Center for Advance Nursing Practice Model. After the considerations of human ethics, the four stimulators were examined as the followings: 1) the simulation of practice triggers which was studied by reviewing five patient medical records in order to know the general data and health condition; 2) reviewed related literature, 3) interviewed five pregnant women whom diagnosed with fetal CLP, 4) interviewed one responsible nurse with 15-20 minutes, and using open-ended questions to ask about the health problems of pregnant woman, also giving an advice. The data were collected during January-December 2015. The descriptive data were analyzed using percentage and the qualitative data were analyzed by content analyses. Results: A total of five pregnant women with fetal CLP were included in the study with the mean age of 32 years, and the second pregnancy was 80%. The clinical problems of pregnancy with fetal CLP included: 1) mental and health of pregnant women and families; 2) discouragement of being pregnant and taking care of their pregnancy; 3) fetal facial image; and 4) nurture of such fetus after birth. The results after the diagnosis of pregnancy with fetal CLP and receiving advice from physicians and nurses were found regarding medical records that they were advised from the physician and nurse towards the abnormalities and chromosome inspection, and given treatment after birth. According to the interviewing of the nurse, it was found that the pregnancy felt regret and denied the diagnostic results, and needed treatment information. Besides, according to the interviewing of the pregnancy, it was found that they wanted to discontinue the pregnancy, needed information, wanted to know about any abnormality. The literature review revealed that nurses were those who providing care, knowledge, and advice. Conclusion: The clinical problems of pregnant women detected with fetal CLP included feelings of disappointment, sadness, and regret whether or not found other abnormalities and being stress in caring for pregnant and postpartum care. The best handling and treatment was to obtain care from the interdisciplinary team in order to help them and their families to face with the crisis, accept to the abnormality of the fetus and having alternatives, and select such the appropriate alternatives, including antepartum and postpartum care.

Effect of knowledge and perception on adherence to iron and folate supplementation during pregnancy in Kathmandu, Nepal.

BACKGROUND: Adherence to iron and folate supplementation during pregnancy is considered key to prevention and control of iron deficiency anemia. Nepal-like other developing countries-faces problems with adherence vis-a-vis iron/folate supplementation. OBJECTIVE: This descriptive survey aimed to assess the effect ofknowledge and perception ofpregnant women on adherence to iron/folate supplementation in Kathmandu, Nepal. MATERIAL AND METHOD: The present study was conducted in Paropakar Maternity and Womens' Hospital in Kathmandu. Systematic random sampling was used to select 406 persons who were either given a self-administered questionnaire or interviewed. RESULTS: 73.2% of the respondents showed good adherence. Bivariate analysis revealed significant associations between adherence and both knowledge and perception (p<0.05), but through multiple linear regression analysis only perception was found to be statistically associated with adherence (p<0.05). Further multivariate analysis demonstrated that the most important predictors of adherence were: perception of side effects, availability, forgetfulness and reminders from family. CONCLUSION: Adherence to iron/folate supplementation among women during pregnancy needs continuous improvement by minimizing the perception of constraints (viz., side-effects and forgetfulness) and, enhancing availability andfamily support.

Second trimester genetic ultrasound for Down syndrome screening at Srinagarind Hospital.

OBJECTIVE: To assess the value of second trimester genetic ultrasound for screening of Down syndrome conducted at Srinagarind Hospital, Khon Kaen, Thailand. MATERIAL AND METHOD: The present study sample comprised of 4,033 pregnant women at high risk forfetal chromosomal abnormality, from 17th to 23th week, who had performed second trimester genetic ultrasound before genetic amniocentesis between September 1996 and December 2011. Archived medical records relating to results ofgenetic ultrasound and genetic amniocentesis were extracted and studied. MAIN OUTCOME MEASURE: Sensitivity ofgenetic ultrasound in the detection of fetal Down syndrome. Results: There were 3,966 chromosomally normal pregnancies (98.3%), 43 fetuses with Down syndrome (1.1%), and 24 fetuses with other chromosomal abnormality (0.6%). 30 of 43 (69.8%) fetuses with Down syndrome had abnormal genetic ultrasound. The overall sensitivity of second trimester genetic ultrasound for detecting Down syndrome was 69.8% with a false-positive rate of 50.4% and likelihood ratio of 1.38. Of all the sonographic markers, short femur, and short humerus indicated the highest sensitivity at 65.1% and 44.2%. According to likelihood ratio (LR+), chest abnormality, 2 vessel umbilical cord, andfacial abnormality including cleft lip and palate, have highest likelihood ratio (LR+) of 61.49, 46.12, and 46.10, and had sensitivity at 4.7%, 2.3%, and 2.3% respectively. CONCLUSION: The sensitivity of second trimester genetic ultrasound for detection offetal Down syndrome at Srinagarind Hospital was rather high, and probably is an alternative method ofprenatalprediction for high risk pregnant women who refused genetic amniocentesis.

Fetal red blood cell parameters in thalassemia and hemoglobinopathies.

INTRODUCTION: With the lack of fetal blood specimens in routine practice, little is known about red blood cell (RBC) parameters of fetuses with various thalassemia syndromes. This study aimed to describe these in various forms of thalassemia. MATERIALS AND METHODS: The study was performed on 93 fetal blood specimens obtained from pregnant women by cordocentesis during 18-24 weeks of gestation. RBC parameters were recorded on automated analyzer. Hemoglobin (Hb) and DNA analyses were performed for definite genotyping. RESULTS: No significant difference in RBC parameters was observed between non-thalassemic fetuses and those with ß-thalassemia trait, Hb E trait, homozygous Hb E and ß-thalassemia/Hb E disease. However, in those with α(0)-thalassemia trait and double heterozygous α(0)-thalassemia/Hb E, slight reduction in mean corpuscular volume (MCV) was noted. Fetuses with the Hb H disease showed significant reductions in Hb, MCV and mean corpuscular Hb (MCH). Marked reductions in Hb, hematocrit, MCH and mean cell Hb concentration and increased RBC distribution width with numerous nucleated RBC were clearly observed in Hb Bart's hydrops fetalis. CONCLUSION: Simple analysis of fetal RBC parameters is useful for making presumptive prenatal diagnosis of α-thalassemia syndromes including Hb H disease and Hb Bart's hydrops fetalis which can then be confirmed by Hb and DNA analyses.

Prenatal three dimensional ultrasonography and expectant management of placental chorioangioma: a case report.

A 24-year-old Thai woman presented with large for date. Two dimensional (2D) and Doppler ultrasonography revealed a large placental mass with prominent vasculature suggestive of chorioangioma with polyhydramnios. Three-dimensional (3D) ultrasonography was used to demonstrate the better images for parental counseling. Close observation with serial ultrasonography was chosen with spontaneous decreasing of amniotic fluid. On the follow up, six months after birth, the baby had hepatic hemangioma, which responded to corticosteroid and propanoral. Although, there are several invasive therapeutic treatments adopted in the management of chorioangioma. Such procedures can cause serious complications. Expectant management should be another option because large chorioangiomas may have spontaneous infarction that improve fetal hemodynamics and clinical outcomes.

Effectiveness of the model for prenatal control of severe thalassemia.

OBJECTIVE: The aim of the research was to determine effectiveness of the model for prenatal control in reducing new cases of severe thalassemia. METHODS: Pregnant women at six tertiary centers were recruited to follow the model, consisting of (1) carrier screening using mean corpuscular volume (for alpha-thal-1 and beta-thal) and CMU-E screen (for HbE trait), (2) carrier diagnosis, (3) the couples at risk were counseled and offered prenatal diagnosis, and (4) termination of affected pregnancy. All neonates were evaluated for thalassemia. RESULTS: Of the 12,874 recruited pregnancies, 7008 were valid for analysis. Of them, 281 couples were identified to be at risk, Of the 281, 58 affected fetuses were identified and 55 pregnancies were terminated, whereas three did not accept pregnancy termination. All 6727 neonates at no risk were proven to be unaffected. The model had sensitivity and positive predictive value of 100% and 20%, respectively. The model could detect all of affected fetuses. CONCLUSION: The model could prenatally identify affected fetuses with a detection rate and negative predictive value of 100%. The model was highly effective to prenatally detect affected fetuses with an acceptable false positive rate.

Normogram of fetal middle cerebral artery peak systolic velocity at 20-37 weeks of gestation at Srinagarind Hospital.

OBJECTIVE: To establish normal references of fetal middle cerebral artery peak systolic velocity (MCA PSV) at 20 to 37 weeks of gestation at Srinagarind Hospital. MATERIAL AND METHOD: A descriptive cross-sectional study was performed Normal fetuses at 20 to 37 weeks of gestation were studied by gray scale ultrasonography initially and then Doppler of MCA PSV. RESULTS: At least 18 pregnant women of each gestational age with an uncomplicated singleton were enrolled The MCA PSV was increased as gestational age advanced from 24.34 cm/sec (SD 3.91) at 20 weeks to 59.04 cm/sec (SD 10.80) at 37 weeks. CONCLUSION: A normogram of fetal MCA PSV at 20 to 37 weeks of gestation at Srinagarind hospital was generated.

Fetal pleural effusions with spontaneous resolution: a case report.

A 42-year-old pregnant woman was referred with massive fetal bilateral pleural effusions. Observation with serial ultrasound was made. The documented spontaneous resolution of fetal pleural effusion was recorded. Neonatal examination revealed a completely healthy infant with normal respiration. Fetal pleural effusion can cause fetal lung compression, abnormal neonatal respiration and finally, neonatal mortality. Regular ultrasounds are one of the supportive options due to spontaneous resolution that can occur in 9 to 22% of the cases.

Distribution of normal nuchal translucency thickness: a multicenter study in Thailand.

AIMS: To establish the normative data distribution of nuchal translucency (NT) thickness in Thai fetuses. METHODS: A cross-sectional multicenter study was conducted among 6,455 women with singleton pregnancies and gestational age between 10 and 14 weeks. For each case, the fetal crown-rump length (CRL) and NT were measured by transabdominal ultrasound. Transvaginal ultrasounds were used in poorly visualized cases. The distribution values of the NT thicknesses and their corresponding 10-mm CRL intervals between 45 and 84 mm were examined to obtain the median and 95th percentiles. Quantile regression modeling across the CRLs was performed to obtain the reference values. RESULTS: Transabdominal ultrasound measurements were successfully done on 6,347 fetuses with 39 cases by the transvaginal route. Fetuses with CRL between 45 and 84 mm and normal outcomes made up a total of 4,352 cases. The mean (SD) gestational age, CRL and NT thickness were 12.5 (0.7) weeks, 60.2 (9.7) mm, and 1.15 (0.38) mm, respectively. The mean normal NT increased linearly with CRL. The quantile regression equation to predict the 95th percentile of the NT thickness (mm) was 0.727 + [0.017 × CRL (mm)]. CONCLUSIONS: The NT thickness in normal Thai fetuses was found to be thinner than in both Caucasian and other Asian populations.

Prevention of severe thalassemia in northeast Thailand: 16 years of experience at a single university center.

OBJECTIVE: To demonstrate the performance of thalassemia prevention in northeast Thailand during 1993-2008. METHODS: Retrospective data from 1422 at-risk couples who attended from January 1993 to December 2008 were studied. All couples were suspected at-risk couples based on initial screening using standard protocols. Three thalassemia carrier types including alpha(0)-thalassemia, beta-thalassemia and hemoglobin E were identified using standard methods. Data on prenatal diagnosis were collected. RESULTS: Of the 1422 positive-screened couples, 1254 (88.2%) were diagnosed as true-positive couples. After DNA analysis, 968 of 1254 (77.2%) resulted at risk for three types of severe conditions being hemoglobin E-beta-thalassemia disease (640/968, 66.1%), homozygous alpha(0)-thalassemia (304/968, 31.4%) and homozygous beta-thalassemia (11/968, 1.1%). The remaining 1.3% of the couples were at risk for more than one disease. After genetic counseling, prenatal diagnosis was performed on 756 couples (78.1%). The proportions of affected fetuses, thalassemia carriers and unaffected fetuses were 26.9, 50.0 and 23.0%, respectively. CONCLUSION: Implementation of a prevention and control program accompanying with a referral system for prenatal diagnosis is technically feasible in northeast Thailand and a large number of severe thalassemia diseases have been prevented during the past 16 years of operation.

Accurate prenatal diagnosis of Hb Bart's hydrops fetalis in daily practice with a double-check PCR system.

Hemoglobin (Hb) Bart's hydrops fetalis is a fatal condition associated with homozygous alpha(0)-thalassemia. Prenatal diagnosis of the disease is usually done by gap-PCR; however, misdiagnosis can occur with allelic dropout. Diagnosis using more than one method is preferred. We describe a double-check PCR assay for accurate prenatal diagnosis. The study was conducted on 64 fetuses at risk of homozygous alpha(0)-thalassemia encountered at our routine thalassemia diagnosis laboratory. Chorionic villus sample (CVS), amniotic fluid or fetal blood specimens were obtained from pregnant women at risk and analyzed by two PCR methods. In the first method, the SEA alpha(0)-thalassemia deletion of parents and fetuses were determined by gap-PCR routinely run in our laboratory. In another method, two specific fragments located 5' to the zeta(2) gene (XbaI fragment) and the alpha(2)-globin gene (RsaI fragment) together with the gap-PCR fragment were multiply co-amplified to determine the presence or absence of normal and alpha(0)-thalassemia alleles. The molecular diagnosis of alpha(0)-thalassemia was possible in all 64 fetuses using the two PCR approaches. The final diagnoses included 13 normal, 29 unaffected heterozygote and 22 homozygote alpha(0)-thalassemia fetuses.The two PCR assays disclosed no discordant result in the diagnosis of the Hb Bart's hydrops fetalis caused by alpha(0)-thalassemia.The combined PCR assay for gap-PCR, zeta(2) XbaI and alpha(2) RsaI fragments, described here, is simple, accurate and applicable in the prenatal diagnosis of Hb Bart's hydrops fetalis in a routine setting.

Incidence, causes and pregnancy outcomes of hydrops fetalis at Srinagarind Hospital, 1996-2005: a 10-year review.

OBJECTIVE: To identify the incidence and determine causes and pregnancy outcomes of hydrops fetalis at Srinagarind Hospital. STUDY DESIGN: A retrospective descriptive study. SETTING: Department of Obstetrics and Gynecology, Faculty of Medicine, Srinagarind Hospital, Khon Kaen University. MATERIAL AND METHOD: A retrospective medical record review of all pregnant women and newborns who were diagnosed with hydrops fetalis at all gestational ages and delivered at Srinagarind Hospital between 1996 and 2005. RESULTS: During the period of study, the incidence of hydrops fetalis was 1.80 per 1,000 total births (82 cases of 45,499 total births). Thirty-nine cases (47.56%) were idiopathic, 30 cases (36.58%) were Hb Bart's hydrops fetalis, and three (3.66%) cases were caused by congenital infection. The others 10 cases (12.19%) were achondrogenesis, Turner syndrome, twin-to-twin transfusion syndrome, severe anemia with unknown primary cause, cystic hygroma, multiple congenital anomalies, and Rh isoimmunization. The mortality rate of hydrops fetalis in the present series was 98.78%. One case, caused by Rh isoimmunization, survived. Maternal complications were 30 cases (36.59%) consisting of preeclampsia, preterm labor, disseminated intravascular coagulopathy, placenta previa, and postpartum hemorrhage. CONCLUSION: The incidence of hydrops fetalis was 1.80 per 1,000 total births. The common known cause was Hb Bart's hydrops fetalis. The mortality rate of hydrops fetalis in the present study was very high.

Analysis of fetal blood using capillary electrophoresis system: a simple method for prenatal diagnosis of severe thalassemia diseases.

INTRODUCTION: Prenatal diagnosis of severe alpha- and beta-thalasssemia diseases is usually performed by DNA analysis. OBJECTIVE: To establish a simple method, we have evaluated the reliability of prenatal diagnosis by fetal blood analysis using automated capillary electrophoresis system. METHODS: Forty-seven fetal blood specimens collected by cordocentesis at 18-28 wk of gestation were analyzed by the capillary electrophoresis system (Sebia). Fetal DNA was analyzed for respective thalassemia alleles by PCR. RESULTS: Among 47 fetuses, 20 were at risk for the Hb Bart's hydrops fetalis. DNA analysis identified four cases of homozygous alpha degrees -thalassemia (SEA type). Hb analysis by the capillary electrophoresis demonstrated a major peak of Hb Bart's (78.4-81.3%), Hb H (0.8-1.4%) and minor peaks of presumably embryonic Hbs. No Hb F and Hb A was observed. The level of Hb Bart's was found to be 3.4-5.8% in unaffected heterozygote whereas normal fetus had no Hb Bart's. Among the remaining 27 fetuses at risk for Hb E-beta-thalassemia, DNA analysis identified 12 affected fetuses. Hb analysis showed Hb F (94.9-98.9%) and Hb E (1.1-1.8%) without Hb A in all cases. The levels of Hb A were found to be (4.3-7.2%), (1.0-5.5%) and (2.1-3.9%) in normal, heterozygous Hb E and heterozygous beta-thalassemia fetuses, respectively. Affected and unaffected fetuses could be easily distinguished. CONCLUSION: Capillary electrophoresis system is a simple and automated procedure for accurate prenatal diagnosis of severe thalassemia diseases which could readily be performed in routine setting.

Accuracy of fetal gender detection using a conventional nested PCR assay of maternal plasma in daily practice.

We have prospectively examined the diagnostic accuracy of a conventional multiplex polymerase chain reaction (PCR) analysis of maternal plasma for fetal gender determination in daily practice. Plasma DNAs were obtained from 168 pregnant women between five and 32 weeks of gestation. The 198-bp-specific sequence on Y-chromosome and the 261 bp ATL1-gene-specific sequence on X-chromosome were coamplified in a multiplex nested PCR manner. The results of fetal sex prediction were compared with routine analysis of fetal tissues and birth outcomes. The ATL1-specific sequences were detected in all cases but Y-chromosome-specific signals were observed in 95 of 97 plasma samples of women carrying male fetuses, leading to the sensitivity of 97.9, 100 and 100% for the first, second and third trimesters, respectively, and the specificity of 100% at all gestational stages. Therefore, fetal gender detection in maternal plasma with a conventional multiplex PCR assay is highly accurate in daily practice which should prove useful for non-invasive prenatal screening of sex-linked genetic disorders.

Fetal biometry charts for normal pregnant women in northeastern Thailand.

OBJECTIVES: 1) To construct normal fetal biometry charts of fetal biparietal diameter (BPD), head circumference (HC), abdominal circumference (AC), and femur length (FL) from 14 to 41 weeks of gestation in northeastern Thailand. 2) To compare the results with other studies. STUDY DESIGN: A cross sectional descriptive study. SETTING: Division of Fetal Diagnosis and Therapy, Department of Obstetrics and Gynecology, Faculty of Medicine, Srinagarind Hospital, Khon Kaen University. MATERIAL AND METHOD: The fetuses of 635 pregnant women with an uncomplicated singleton pregnancy between 14 and 41 weeks of gestation in northeastern Thailand from 1 October 2005 to 31 December 2006. All recruited pregnant women enrolled had an abdominal ultrasonography for fetal biometry and the results were compared with other studies using student's T distribution. MAIN OUTCOME MEASURES: Fetal biometry charts for normal pregnant women between 14 and 41 weeks of gestation in northeastern Thailand. RESULTS: Six hundred and twenty eight normal fetuses from 635 pregnant women were measured for fetal biometry charts. The comparison of the presented charts with others was significantly larger than the North in all parameters (except AC), but was consistent to those from the South (only BPD and FL). However when the authors compared then with central Thailand and Western countries, there were only significant differences in some gestational ages. CONCLUSION: The authors established normal fetal biometry charts for northeastern Thai pregnant women that could be implemented in the population of this region.

Application of maternal plasma DNA analysis for noninvasive prenatal diagnosis of Hb E-beta-thalassemia.

To establish simple noninvasive prenatal diagnosis of common beta-thalassemia in Southeast Asia, we have evaluated the possibility of identifying the 3 most common beta-thalassemia genes [beta(E), beta(17A-T), and beta(41/42(-CTCC))] by analysis of fetal DNA in maternal plasma using combined conventional polymerase chain reaction (PCR) and real-time quantitative PCR. Maternal plasma was obtained from peripheral blood of Thai pregnant women collected during the first and second trimesters of gestation. DNA was prepared from 200 microL plasma using a QIAmp Blood Mini Kit. Identifications of the beta(E), beta(41/42(-CTTT)), and beta(17A-T) in plasma DNA were carried out using semi-nested (for beta(E)) and nested (for beta(41/42) and beta(17)) real-time allele-specific PCR methodologies, and the results were compared with those obtained on fetal tissue analysis with routine invasive procedure. Twenty-six fetal beta(E) genes were correctly identified by maternal plasma DNA analysis of 39 pregnant women investigated. The fetal beta(41/42) and beta(17) mutations were detectable in 6 of 12 and 4 of 9 maternal plasma specimens, respectively, which were in concordance with the results obtained by routine invasive procedure. The noninvasive prenatal diagnostic methods developed should potentially prove useful for detection of paternally inherited mutation and for providing the exclusion of pregnancies at risk for this common genetic disorder in the region.

Autopsy findings of fetal death.

OBJECTIVE: To study the autopsy findings associated with fetal death in the division of reproductive pathology. MATERIAL AND METHOD: Descriptive study of 35 fetal deaths with placentas after postmortem examinations in the division of reproductive pathology between January 2005 and December 2005. The fetal deaths and placentas were examined by a perinatal pathologist in the surgical pathology room, Department of Pathology and Department of Obstetrics and Gynecology, Faculty of Medicine, Khon Kaen University. The demographic data of the mothers, the gestational age from obstetric information, diagnosis before abortus or delivery. The postmortem examinations including abnormal macroscopic or microscopic findings were analyzed. RESULTS: The associated pathologies of fetal death could be identified 87.5% for groups of fetal weight less than 500 grams and in 77.8% for groups of fetal weight 500 grams or more. The most common associated pathology of fetal death in both groups was congenital anomaly, was 50% and 25.9% respectively. Macerated fetuses were found in 48.2% of all cases. Causes of macerated groups were identified in 66.7% of cases. Hydropic fetuses were 14.3% (5 cases) of all fetal deaths in which the cause of death was identified before delivery in two cases and was identified in postmortem examination in one case. Thus, the identified causes of fetal death in hydrops fetalis were 60%. CONCLUSION: Most common associated pathology of fetal deaths is congenital anomaly.

Effect of the maternal betaE-globin gene on hematologic responses to iron supplementation during pregnancy.

BACKGROUND: It is customary in Southeast Asia to treat pregnant anemic women with iron supplements, but anemia in this region may be complicated by thalassemia and hemoglobinopathies, which lead to an ineffective response. OBJECTIVE: The aim was to determine whether routine iron supplementation during pregnancy in this area, which has a high prevalence of thalassemia and hemoglobinopathies, is an effective control strategy for iron deficiency anemia. DESIGN: A prospective study was conducted. Seventy-six pregnant women, including 43 who were heterozygous for the hemoglobin E (Hb E) gene, 20 who were heterozygous for Hb E and had alpha-thalassemia, and 13 who were homozygous Hb E, as well as 77 pregnant women who had no thalassemia gene, participated in this investigation. All pregnant women received a daily dose of 120 mg elemental Fe for an average of 133.5 d. Hematologic variables and serum ferritin concentrations were measured before supplementation and after supplementation at the gestational age of 28-32 wk. Differences in hematologic variables and serum ferritin were assessed. RESULTS: Significant differences in hemoglobin, mean corpuscular volume, and mean corpuscular hemoglobin responses were found between the nonthalassemia group and the 3 groups with the Hb E gene after adjustment for the following baseline values: age, body mass index, duration of iron supplementation, and ferritin concentration. Significant differences in the improvements in mean corpuscular volume and mean corpuscular hemoglobin values between the 3 groups indicate a poorer response at the cellular level in the pregnant women with the Hb E gene. Further analysis showed a significant difference in the hemoglobin response only for women who were homozygous for Hb E. CONCLUSION: Iron supplementation during pregnancy is not beneficial for pregnant women who are homozygous for Hb E, but a routine intervention should not cause iron overload, as judged from this short observation period.

Lived experiences of mothers caring for children with thalassemia major in Thailand.

ISSUES AND PURPOSE: Thalassemic patients must be given continuous treatment throughout their lives due to the physical and psychological effects of their disorder; their families also are impacted. This qualitative study explored the lived experiences of 15 mothers of children with thalassemia major by conducting semistructured interviews; the data were analyzed utilizing content analysis. CONCLUSION: Six themes were identified: lack of knowledge about thalassemia, psychosocial problems, concerns for the future, social support systems, financial difficulty, and the effectiveness of healthcare services. PRACTICE IMPLICATIONS: These findings suggest that a holistic, culturally sensitive nursing approach should be considered when caring for children with thalassemia.

Development and application of a real-time quantitative PCR for prenatal detection of fetal alpha(0)-thalassemia from maternal plasma.

In order to provide a noninvasive prenatal diagnosis of alpha(0)-Thalassemia (Southeast Asian [SEA] deletion), we have developed a real-time quantitative semi-nested polymerase chain reaction (PCR) method for identifying the fetal alpha(0)-Thalassemia in maternal plasma. Analysis was performed using DNA extracted from 200 muL plasma from 13 pregnant women during 8-20 weeks of gestation who carried fetuses with normal (2), alpha(0)-Thalassemia carrier (8), Hb H disease (1), and homozygous alpha(0)-Thalassemia (Hb Bart's hydrops fetalis (2). The alpha(0)-Thalassemia was detected using a two-step PCR. Plasma DNA was amplified conventionally using alpha(0)-Thalassemia-specific primers and a portion of the first PCR product was subjected to a semi-nested real-time q-PCR using the SYBR green I chemistry for fluorescence detection. Calibration curve for alpha(0)-Thalassemia quantification was prepared by assaying serial dilution of genomic DNA of an alpha(0)-Thalassemia carrier. Differences in the C(T) (threshold cycle) values and calculated concentrations of amplified DNA among normal fetus, alpha(0)-Thalassemia carrier, Hb H disease, and homozygous alpha(0)-Thalassemia were clearly observed, which could help in prenatal prediction of the fetal genotype. This noninvasive prenatal detection of alpha(0)-Thalassemia in maternal plasma should enhance prenatal diagnostic options for this common genetic disorder in routine DNA diagnostic setting.