Intrauterine intravenous transfusion therapy for hydrops fetalis due to anemia of uncertain causes.
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Anemia↗
Biomedical subjects
P Chanprapaph
Publications and source records attributed to P Chanprapaph.
Fetal structural anomaly screening at 11-14 weeks of gestation at Maharaj Nakorn Chiang Mai Hospital.
OBJECTIVE: To determine the detection rate by ultrasound scanning of fetal anomaly by first trimester (11-14 weeks of gestation). MATERIAL AND METHOD: A prospective descriptive study of 597 pregnant women undergoing Nuchal Translucency (NT) measurement at 11-14 weeks of gestation at Maharaj Nakorn Chiang Mai Hospital. The sonographic examinations focused on NT thickness and fetal structural survey. The final diagnoses were based on neonatal outcomes assessed by the pediatricians and abortuses evaluated by the pathologists. The main outcome measure was the detection rate of fetal anomaly using ultrasonographic examination. RESULTS: Of 597 pregnant women recruited into the present study, the mean age was 29.41 +/- 5.8 years, the incidence of fetal anomaly was about 4% (24 from 597 cases). The detection rate by first ultrasound scans was 58% (14 from 24 cases) and the most common detected structural anomaly was cystic hygroma and exencephaly. The rate of undetected fetal anomalies was 42% (10 from 24 cases). Abnormal NT was found in 16 from a total of 597 cases (2.7%), most of them, however, had normal karyotype and no gross anomaly at birth. CONCLUSION: First trimester (11-14 weeks) ultrasound scan is probably a useful method for detection of fetal structural anomalies with a relatively high detection rate, and may be a good adjunct to the conventional examination.
Adult↗
Prenatal sonographic delineation of the complex cardiac anatomy of thoraco-omphalopagus twins.
We describe a case of thoraco-omphalopagus twins diagnosed at 18 weeks' gestation. Each twin had a separate set of anatomical structures except for a shared heart, upper liver and anterior chest wall. The heart was located at the center of the juncture, and consisted of three atria and two ventricles, each twin having a single ventricle and right atrium but a fused left atrium. A set of great arteries originated from each single ventricle and there was juxtaposition of the aortic and pulmonary valves. One twin had transposition of the great arteries, whereas in the other these were normal in configuration. There was only one umbilical cord which contained four vessels (two arteries and two veins). This case report demonstrates the possibility of using fetal echocardiography to delineate the cardiovascular complex of the conjoined heart.
Adult↗
Sonographic features of trisomy 13 at midpregnancy.
OBJECTIVES: To evaluate the sonographic characteristics, at 16-22 weeks of gestation, of fetuses later diagnosed with trisomy 13. METHODS: This descriptive analysis of a case series was conducted from June 1989 to May 2001 at the Department of Obstetrics and Gynecology, Faculty of Medicine, Chiang Mai University, Thailand. Women with abnormal sonographic findings at midpregnancy (16-22 weeks of gestation) underwent amniocentesis or cordocentesis for karyotyping, and the inclusion criterion was proven trisomy 13. RESULTS: Indications for sonographic examination at midpregnancy were a genetic risk, large- or small-for-date fetus, and other suspected anomalies. Fifteen fetuses were later diagnosed with trisomy 13. In all of these cases there was at least one abnormal sonographic finding. In only one case did the fetus show no structural abnormality (at 17 weeks), but polyhydramnios and fetal growth restriction were observed. Common sonographic findings included holoprosencephaly with associated facial anomalies, and abnormal feet and/or hands, especially polydactyly. Non-structural abnormal findings such as polyhydramnios or fetal growth restriction were seen in less than one third of the fetuses. CONCLUSIONS: Nearly all the fetuses with trisomy 13 had sonographic characteristics of abnormalities at midpregnancy although common findings had often not yet appeared or the findings were low-sensitive. Detailed ultrasound at midpregnancy could effectively screen for further genetic testing pregnancies at risk for trisomy 13.
Abnormalities, Multiple↗
Fetal loss rate associated with cordocentesis at midgestation.
OBJECTIVE: The aim of this study was to assess the risk of fetal loss attributable to cordocentesis at midgestation. STUDY DESIGN: A cohort study was conducted during the period 1989-1999. Women undergoing cordocentesis between 16 and 24 weeks' gestation with singleton pregnancies without obvious fetal anomaly were recruited into the study group. The control subjects were selected prospectively on a one-to-one basis with strict matching for maternal age, parity, gestational age at recruitment, and socioeconomic status. Both groups were prospectively followed up until delivery. RESULTS: A total of 1281 women with successful cordocentesis and their matched control subjects were recruited to the study. After exclusion of some pairs because of loss to follow-up or fetal malformations or severe disease necessitating termination of pregnancy, 1020 matched pairs were available to be compared with respect to fetal loss rate and pregnancy outcomes. The fetal loss rate was significantly higher among the study group (3.2% vs. 1.8%; P <.05, McNemar test). However, there were no significant differences in other obstetric complications between the study and control groups. CONCLUSION: The incremental fetal loss rate associated with cordocentesis at midgestation was about 1.4%.
Abruptio Placentae↗
Prenatal diagnosis of beta-thalassemia major by high-performance liquid chromatography analysis of hemoglobins in fetal blood samples.
In Thailand and adjacent countries, most of the beta-thalassemia genes are beta(0)-thalassemia mutations that prevent the production of Hb A. We propose the quantitation of the Hb A fraction in fetal blood in the mid-trimester of pregnancy by automated high performance liquid chromatography as a reasonable prenatal diagnostic method to be applied in areas with limited laboratory facilities. Forty pregnant women at risk of delivering a child with beta-thalassemia major were identified using an erythrocyte osmotic fragility test and quantitation of Hb A2. Cordocentesis was performed at the gestational age of 18-22 weeks and fetal blood was analyzed for hemoglobin fractions by automated high performance liquid chromatography. The beta-globin gene mutations were characterized by beta-globin gene sequencing. The 4 bp deletion at codons 41/42 (-TTCT) was the most frequent of the 40 beta-thalassemia mutations observed (20/40 = 50%), followed by the splice site mutation IVS-I-1 (G-->T) (7/40 = 17.5%), the nonsense mutation at codon 17 (A-->T) (7/40 = 17.5%), the nonsense mutation at codon 35 (C-->A) (3/40 = 7.5%), and the beta(+)-thalassemia promoter mutation at -28 (A-->G) (3/40 = 7.5%). High performance liquid chromatography revealed nine fetuses which had only Hb F and no Hb A. All were homozygotes or compound heterozygotes for beta(0)-thalassemia mutations. In the remaining 31 fetuses, a Hb A peak was present in the chromatograms. One fetus with 0.5% Hb A was a compound heterozygote for the -28 (A-->G) and codons 41/42 (-TTCT) mutations. In the remaining 30 fetuses, the Hb A values ranged between 0.8 and 7.4%. Twenty of these, with a Hb A concentration of 1.82 +/- 0.49% (range 0.8-2.8%), were beta-thalassemia heterozygotes. The remaining 10 fetuses had Hb A values of 4.89 +/- 1.47% (range 2.9-7.4%) and normal beta-globin genes. The absence of Hb A in homozygotes or compound heterozygotes for beta(0)-thalassemia mutations and the presence of measurable amounts of Hb A in heterozygotes and normal homozygotes, permits the diagnosis of fetuses expected to develop postnatal beta-thalassemia major.
Adult↗
Prenatal diagnosis of isolated anorectal atresia with colonic perforation.
We report here a case of prenatal diagnosis of isolated anorectal atresia with intrauterine colonic perforation at 34 weeks of gestation, characterized by the presence of a bilobed cystic pelvic mass with a V-shape appearance separated from the bladder with changing features during observation. Mild ascites was also visualized. Other structures were normal on detailed ultrasound. The patient had spontaneously delivered a male infant weighing 2,100 g at 34 weeks of gestation. The infant died one day after birth, before surgical correction secondary to respiratory distress syndrome. Autopsy revealed isolated anorectal atresia, and high (supraelevator) lesions. In conclusion, the findings of bilobed cystic pelvic mass with a V-shape were useful to diagnose anorectal atresia in this case. Prenatal ultrasound can facilitate early diagnosis and treatment.
Adult↗
Prenatal eradication of Hb Bart's hydrops fetalis.
OBJECTIVE: To evaluate the effectiveness of prenatal prevention of Hb Bart's hydrops fetalis. STUDY DESIGN: The study was a prospective descriptive analysis of pregnant women attending an antenatal clinic between June 1990 and June 1998. The study consisted of two periods, the first half with no prenatal diagnosis (PND) (1990-1994) and the second half with PND. During the study period, all cases of Hb Bart's hydrops fetalis were prospectively collected and postnatally confirmed. In the second period, prenatal strategy to control severe thalassemia was introduced. The strategy included (1) carrier identification by retrospective (history review for known risk) and prospective screening (simple erythrocyte osmotic fragility test) in women without known risks, (2) the couples at risk were offered genetic counseling and cordocentesis, (3) analysis of fetal blood for diagnosis, and (4) counseling for termination of pregnancy. RESULTS: During the first half of the study, the prevalence of Hb Bart's hydrops fetalis was 0.305 (89 in 29,399 deliveries). There were no fetuses with Hb Bart's hydrops fetalis among 16,360 screened pregnancies in the second half. However, of 6,856 pregnancies in the second half not screened due to a late first visit, 10 (0.15%) fetuses had Hb Bart's hydrops fetalis. Among the screened group, cordocentesis was performed in 361 pregnancies at risk, 170 and 191 from retrospective and prospective screening, respectively; and 75 (20.8%) were proven to have Hb Bart's disease, which was diagnosed before hydropic changes occurred. CONCLUSION: The strategy proved effective in preventing Hb Bart's hydrops fetalis, and extensive experience with it suggests that it be considered an effective way to control severe thalassemia.
Cordocentesis↗
Prenatal diagnosis of VACTERL association: a case report.
A prenatal diagnosis of VACTERL association, a combination of vertebral (V), anal (A), cardiac (C), tracheoesophageal (TE), renal (R) and limb (L) anomalies was made at 30 weeks of gestation, based on the sonographic demonstration of vertebral defects, bilateral renal agenesis, and left lower limb defects. Additionally, severe oligohydramnios and fetal growth restriction were also documented. After proper counseling, elective termination of pregnancy was done, resulting in a stillborn infant with multiple malformations compatible with the VACTERL association. The postnatal X-ray and autopsy revealed verterbral defects, anorectal atresia with undetermined sex, cardiac defect of ventricular septal defect, tracheal agenesis with distal atresia of esophagus, bilateral renal agenesis, and limbs defects. The chromosomal study revealed normal, 46,XY. This report emphasizes the important role of prenatal ultrasound in the diagnosis and management of this disorder.
Abnormalities, Multiple↗
Prenatal sonographic diagnosis of ellis-van creveld syndrome.
Ellis-van Creveld syndrome (chondroectodermal dysplasia) is a rare autosomal recessive disorder characterized by a narrow thorax with short ribs, short extremities with polydactyly, and heart defects. A woman underwent sonographic examination at 27 weeks' menstrual age to rule out anomalies because of premature labor. Sonography revealed a live fetus with short long bones, polydactyly in the hands and feet, a narrow thorax with short ribs, and an atrial septal defect. All bony structures were of normal hyperechogenicity. The placenta appeared normal and was located at the posterior uterine wall; the amniotic fluid volume was also normal. These findings led to the diagnosis of short-rib dysplasia, most likely Ellis-van Creveld syndrome. The preterm labor stopped but spontaneously recurred at 35 weeks, when a 2,320-g female infant was vaginally delivered. The infant died of pulmonary insufficiency shortly after birth. Postmortem examination confirmed the prenatal findings. We conclude that Ellis-van Creveld syndrome can be readily diagnosed by prenatal sonography in the third trimester.
Adult↗
Prenatal sonographic diagnosis of Holt-Oram syndrome.
Holt-Oram syndrome is an autosomal dominant disorder characterized by heart defects in combination with characteristic upper-limb abnormalities. A woman with no family history of genetic diseases underwent prenatal sonography at 25 weeks' menstrual age to screen for fetal anomalies. Sonography revealed abnormalities in the upper limbs and heart. The limb abnormalities included bilateral absence of radii and thumbs: the left hand had no carpal or metacarpal bones, and each of the 4 fingers on that hand had only 1 phalangeal bone. Cardiac malformations included an atrial septal defect and Ebstein's anomaly. Other structures were normal. Prenatal cytogenetic analysis by cordocentesis revealed a normal 46,XY karyotype. Spontaneous labor and delivery at 34 weeks' menstrual age produced a 1,960-g male infant who died of cardiac insufficiency shortly after birth. The postnatal appearance and autopsy findings confirmed the prenatal findings. In this case, Holt-Oram syndrome was readily diagnosed by prenatal sonography.
Abnormalities, Multiple↗
Prenatal ultrasound of regional akinesia with Pena-Shokier phenotype.
This report describes sonographic features of the Pena-Shokeir phenotype secondary to regional akinesia at 28 weeks of gestation with maternal perception of good fetal movement. The diagnosis was based on the findings of no fetal activity in some parts of the body (upper limbs, a part of the face, and thorax), with deformation sequence of fixed flexion at wrist, elbow, and shoulder joints, fixed open mouth, fetal growth restriction, lung hypoplasia, polyhydramnios and normal chromosome study. Surprisingly, fetal akinesia involved only the upper limbs, a part of the face, and chest, whereas the lower limbs were completely normal in both morphology and activity. With vibroacoustic stimulation, the response of fetal heart rate acceleration, gross body movement including fetal head, spine and lower limb movement were observed, but the movement of the upper limbs and fetal breathing were completely absent. Spontaneous labour and delivery occurred at 29 weeks' gestation. Postnatal autopsy confirmed the prenatal findings. In conclusion, prenatal sonography plays an important role not only in detecting Pena-Shokeir phenotype but also in providing the detailed pattern of fetal akinesia. Finally, this case reaffirms the concept that function is an integral part of normal development.
Abnormalities, Multiple↗
Triple bubble sign: a marker of proximal jejunal atresia.
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Adult↗
Prenatal diagnosis of thrombocytopenia-absent-radius (TAR) syndrome.
The prenatal diagnosis of thrombocytopenia-absent-radius (TAR) syndrome using ultrasound and cordocentesis in the 16th week of gestation is established. The sonographic findings detected in this case included bilateral absence of the radius and club hands with normal thumbs and metacarpals. Because of a high index of suspicion for the syndrome, cordocentesis for fetal blood analysis was performed. Thrombocytopenia, with a platelet count of 14,000/mm3, was identified. The pregnancy was electively terminated and subsequent findings confirmed the sonographic diagnosis. This report, to our knowledge, is one of a very limited number of cases published in the literature, in which the prenatal diagnosis of TAR syndrome was made.
Abortion, Therapeutic↗
Sonographic diagnosis of exencephaly: omphalocele at 11 weeks of gestation.
This report presents a sonographic diagnosis of exencephaly combined with omphalocele at 11 weeks of gestation. The transvaginal ultrasound showed frog-eye appearance face with no skull, abnormal shape of disorganized brain with covering membrane separated from brain mass by anechoic fluid in some area, and omphalocele of 8 mm diameter. Therapeutic abortion was successfully done with misoprostol. Postabortal macroscopic findings confirmed the prenatal diagnosis. The combination of exencephaly and omphalocele is rare, and this is one of the earliest diagnosis of not only exencephaly but also omphalocele. To our best knowledge, this represents the earliest diagnosis of the combination. In conclusion, transvaginal ultrasound proved highly informative for both exencephaly and omphalocele as early as in first trimester.
Abortion, Therapeutic↗
Cordocentesis at 16-24 weeks of gestation: experience of 1,320 cases.
The objective of this study was to assess the safety and efficacy of diagnostic cordocentesis at midpregnancy. 1,320 singleton pregnancies with no obvious congenital anomalies, a gestational age of 16-24 weeks, and proper indications underwent cordocentesis using the freehand technique. The results of each procedure was prospectively collected and subsequently analysed for the results and pregnancy outcomes. The mean maternal age was 31.1 years and the mean gestational age at the time of cordocentesis was 19.8 weeks. The most common indication was the risk of severe thalassaemia syndrome (69.8%) and was followed by rapid karyotyping. Of 1,320 cordocenteses, 1,281 (97%) were done successfully at the first attempt. The mean duration of the procedure was 10.5 min and was significantly longer in the first 50 cases of practice for each operator. The maternal blood contamination rate was higher when the cord insertion was targeted. The procedure-related complications included transient bleeding at puncture site (20.2%), transient fetal bradycardia (4. 3%), chorioamnionitis (two cases), and cord haematoma (one case). Of 1,281 successful cases, 184 fetuses had severe disease. The total fetal loss rate was 3.2% and the procedure-related loss was 1%. The other obstetric complications were comparable with those in the general population. We conclude that cordocentesis at midpregnancy is a useful, relatively safe, and effective procedure for prenatal diagnosis.
Abortion, Spontaneous↗
Prenatal control of severe thalassaemia: Chiang Mai strategy.
Prenatal diagnosis of severe thalassaemia is conventionally diagnosed by fetal DNA analysis but it can not be widely used due to its drawbacks of high cost and technical effort. This prospective study describes a new prenatal strategy in preventing severe thalassaemia by a more simple and inexpensive way. The strategy included: (1) genetic counselling; (2) identification of pregnancies at risk by retrospective screening (history of known risk) and prospective screening for asymptomatic women; (3) cordocentesis at 16-22 weeks' gestation; (4) fetal blood analysis with high performance liquid chromatography (HPLC); (5) termination of affected pregnancy. The prospective screening consisted of 2 min osmotic fragility (OF) and HbE screening test in women with no risk, and testing the husbands of the women with a positive result. If both of the couple had a positive result, the diagnostic test (HbA(2) level and PCR alpha-thal 1) for the carrier was needed. A pregnancy in which both of the couple were carriers was considered at risk. This strategy identified 181 and 108 couples at risk by prospective (from 7954 pregnancies) and retrospective screening, respectively. Two hundred and forty-two underwent cordocentesis, 108 from retrospective screening and 134 from prospective screening, and 62 were proven to have severe thalassaemia (29 and 33 in retrospective and prospective screening, respectively). The strategy identified nearly all, if not all, fetuses with severe thalassaemia without false positives among the screened couples. In conclusion, the strategy proves to be highly effective in the control of severe thalassaemia.
Abortion, Therapeutic↗
Prenatal diagnosis: 10-year experience.
To evaluate the indications and results of prenatal diagnosis of the high risk pregnant women attending the antenatal care clinic at Maharaj Nakorn Chiang Mai Hospital, Chiang Mai University during 1988-1998, we analysed 2,315 amniocenteses, 1,000 cordocenteses, and 11,895 obstetric ultrasound examinations. Among the amniocentesis group, 2,017 cases (87%) were done with the indication of advanced maternal age. The prevalence of major abnormal fetal chromosomes among high risk pregnancies was 1:58. Of 1,000 cases with cordocentesis, the most common indication was fetal risk of severe thalassemia (658 cases; 65.8%) and followed by fetal risk of chromosome abnormalities (272 cases; 27.2%). In the group of cordocentesis for diagnosis of thalassemia, 99 and 49 pregnancies were affected with Hb Bart's disease and homozygous beta-thalassemia, respectively. Thirty three cases with indication of chromosome analysis had fetuses with abnormal chromosomes. The major indications of ultrasonography included suspicion of intrauterine growth restriction (IUGR), determination of gestational age and screening anomalies, respectively. In conclusion, our extensive experience has enabled us to prenatally detect most fetuses with severe thalassemia, and fetuses with abnormal chromosomes as well as anomalies in a significant number, contributing a great deal to our population. Therefore, we recommend that systematic prenatal diagnosis, either amniocentesis, cordocentesis or ultrasound should be provided to every high risk pregnant woman for a healthy newborn.
Adult↗