海南地区地中海贫血产前基因诊断的临床研究

目的:研究检测α-地中海贫血及β-地中海贫血在产前基因诊断中的临床应用价值。方法:对孕妇夫妇携带地中海贫血的48例风险胎儿的羊水(或脐血)应用单管多重PCR体系和反向点杂交法,进行α-地中海贫血和β-地中海贫血基因诊断。结果:共检测出地中海贫血胎儿38例。其中α-地中海贫血14例,包括东南亚缺失型杂合子(--SEA/αα)2例,东南亚缺失型纯合子(--SEA/--SEA)8例,左缺失型杂合子(-α4.2/αα)1例,右缺失型杂合子(-α3.7/αα)2例,非缺失型点突变(ααT/αα)1例;β-地中海贫血24例,包括CD41-42杂合子16例,CD41-42纯合子2例,-28(A-G)杂合子3例,双重杂合子(IVS2nt654/CD41-42,-28(A-G)/CD71-72(+A),CD41-42/-α3.7)3例。其中10例重型地贫儿引产,1例重型地贫儿产后新生儿死亡,其余均足月分娩存活。所有病例经引产或正常分娩后留取脐带血,作地贫基因诊断,与产前诊断结果一致。结论:应用单管多重PCR体系及反向点杂交法能快速、准确进行α-和β-地中海贫血产前基因检测,这对于有效预防重型地中海贫血胎儿出生具有重大临床意义。     

Prenatal two- and three-dimensional ultrasound diagnosis of limb reduction defects associated with homozygous alpha-thalassemia

OBJECTIVES: We present the prenatal two-dimensional (2D-) and three-dimensional ultrasound (3D-US) diagnosis of limb reduction defects associated with homozygous alpha-thalassemia and a review of the literature. METHODS: At 17 weeks' gestation, amniocentesis was performed for cytogenetic and molecular studies, and 2D- and 3D-US examinations were made for evaluation of the fetal malformations. RESULTS: Amniocentesis revealed a 46,XY karyotype and molecular analysis of the amniocytes showed that the fetus was homozygous for the Southeast Asian deletion (--SEA/--SEA). 2D-US examination revealed bilateral ventriculomegaly, brachycephaly, pleural effusion, digital deficiency and hypoplasia of the right foot, and digital deficiency of the left foot. 3D-US confirmed the distal limb reduction defects. CONCLUSIONS: When the fetus is at risk for homozygous alpha-thalassemia, 2D- and 3D-US examinations are useful for prenatal detection of the associated limb reduction defects. Prenatal identification of the possible association with limb reduction defects is important for parental counseling and decision-making when intrauterine fetal therapy is an option.     

The Prevalence of Sexually Transmitted Disease Agents in Pregnant Women in Suva

Summary: Routine testing of 440 women (257 Fijians, 183 Indians) at the first antenatal attendance identified Chlamydia trachomatis in 50% of Fijians and 38% of Indians; the seropositivity rates for syphilis were 14.2% and 1.7% respectively, and the isolation rates for N. gonnorrhoeae were 3.1% in Fijians and 1.1% in Indians.     

Doppler ultrasonography in singleton pregnancies at risk of intrauterine growth retardation-- a national estimate

BACKGROUND: In order to assess the organizational and economical implications of Doppler ultrasonography used in high risk pregnancies, a national estimate of the use in singleton pregnancies with risk of small for gestational age (>2 SD below mean birthweight) (SGA) or intrauterine growth retardation (IUGR) was needed. METHODS: Through retrospective analyzes of both national registry data, and local clinical and ultrasonic records from Copenhagen University Hospital annual populations of singleton pregnant women with suspected IUGR and/or infants born SGA were described. The antenatal care program for assessing pregnancies with suspected IUGR was described. RESULTS: In 1996 2.8% of all singleton infants were born SGA. The population had increased risk of perinatal mortality and morbidity, and about 40% had labor induced or were delivered by caesarean section, compared to 15% of the infants with normal birthweight. In the local population 79 (3.3%) of singleton infants were born SGA and 2/3 of these were considered SGA or IUGR before delivery. Of all singleton pregnancies, a total of 88 (3.7%) were assessed by ultrasonic fetometry because of a risk or clinical suspicion of SGA, and 49 (55.7%) of these pregnancies resulted in a SGA infants. Combining national and local data it is estimated that in Denmark, about 2000 women (3.1%) will be referred for ultrasonic fetometry each year because of a risk or clinical suspicion of SGA and have a mean of 2.5 fetometries. About 75% (1500) will be further assessed by Doppler ultrasonography and have a mean of 3.4 Doppler examinations. CONCLUSION: The annual number of Doppler ultrasonography examinations in singleton pregnancies with increased risk of or signs of IUGR is estimated to be about 5000.     

Recent trends in histological pattern of cervical carcinoma among three ethnic groups in Malaysia

OBJECTIVE: To study the trend of different histological types of cervical carcinoma among the 3 major ethnic groups in Malaysia. METHODS: All invasive cervical carcinoma histologically diagnosed for the first time in 1991-1992 and 1996-1997 at the University Hospital, Kuala Lumpur (UHKL) were reviewed for the following parameters; age, ethnic group, histological category. RESULTS: One hundred and twenty-one and 145 cases were diagnosed in 1991-1992 and 1996-1997, respectively. During both periods, squamous was followed by adeno and adenosquamous carcinoma in frequency. Patients' mean ages ranged within the 4th decade for all 3 major histological types. Ethnically, an overall predilection for the Chinese was observed. While squamous carcinomas had declined among the Chinese and Malays, adenocarcinomas were noted to increase. The converse was observed among the Indians. CONCLUSIONS: Ethnically, cervical carcinoma showed a predilection for Malaysians of Chinese descent. A decreasing incidence of squamous with a worrying increasing trend of adenocarcinoma was observed, like in other populations studied.     

Avoidable risk factors in perinatal deaths: a perinatal audit in South Australia

OBJECTIVES: To analyse risk factors of perinatal death, with an emphasis on potentially avoidable risk factors, and differences in the frequency of suboptimal care factors between maternity units with different levels of care. METHODS: Six hundred and eight pregnancies (2001-2005) in South Australia resulting in perinatal death were described and compared to 86 623 live birth pregnancies. RESULTS: Two hundred and seventy cases (44.4%) were found to have one or more avoidable maternal risk factors, 31 cases (5.1%) had a risk factor relating access to care, while 68 cases (11.2%) were associated with deficiencies in professional care. One hundred and four women (17.1% of cases) presented too late for timely medical care: 85% of these did have a sufficient number of antenatal visits. The following independent maternal risk factors for perinatal death were found: assisted reproductive technology (adjusted odds ratio (AOR) 3.16), preterm labour (AOR 22.05), antepartum haemorrhage (APH) abruption (AOR 6.40), APH other/unknown cause (AOR 2.19), intrauterine growth restriction (AOR 3.94), cervical incompetence (AOR 8.89), threatened miscarriage (AOR 1.89), pre-existing hypertension (AOR 1.72), psychiatric disorder (AOR 1.85) and minimal antenatal care (AOR 2.89). The most commonly found professional care deficiency in cases was the failure to act on or recognise high-risk pregnancies/complications, found in 49 cases (8.1%). CONCLUSION: Further improvements in perinatal mortality may be achieved by greater emphasis on the importance of antenatal care and educating women to recognise signs and symptoms that require professional assessment. Education of maternity care providers may benefit from a further focus on how to recognise and/or manage high-risk pregnancies.     

Obstetric complications and perinatal outcome in triplet pregnancies.

The incidence of multiple pregnancies with more than two fetuses has significantly increased since the introduction of ovulation agents and assisted reproductive technologies. Over a 15-year period there were 35 triplet pregnancies beyond 24 weeks that delivered at the King Fahad Hospital, an incidence of 1 in 1,099 deliveries. Early diagnosis is important for improving the rate of fetal salvage in triplet pregnancy. These pregnancies were managed on an outpatient basis. Prophylactic interventions were not utilised. A total of 91% of the pregnancies had at least one antenatal complication, pre-term labour being the most common (80%) followed by anaemia (43%). The average gestational age at delivery was 31.7 weeks (SD 4.2 weeks). A total of 94.3% of the patients were delivered by lower segment caesarean section. The mean birth weight of the neonates was 1,552 g (SD 510 g) and mean 5-min Apgar score was 7.6 (SD 0.8). The corrected perinatal mortality rate in the study was 152/1,000. Pregnancy outcome did not vary with birth order or mode of conception. Higher rate of pre-term births among triplet pregnancies make considerable demands on the neonatal intensive care unit. All methods of assisted reproduction should aim at prevention of multifetal pregnancies.     

Impact of demographic factors on prenatal diagnosis and elective pregnancy termination because of abdominal wall defects, Hawaii, 1986-1997.

OBJECTIVE: The intent of this study was to investigate the impact of various demographic factors on the antenatal diagnosis and elective termination of abdominal wall defect pregnancies. METHOD: Data were obtained from a birth defects registry in Hawaii between 1986 and 1997. RESULTS: The antenatal diagnosis rate was higher for gastroschisis than for omphalocele (76 vs. 60%). However, gastroschisis pregnancies were substantially less frequently electively terminated than omphalocele pregnancies (8 vs. 29%). Factors such as year of diagnosis and delivery, maternal age, race/ethnicity, residence, and maternal serum alpha-fetoprotein screening affected the prenatal diagnosis and/or elective termination of both omphalocele and gastroschisis pregnancies, but frequently in different ways. CONCLUSION: This investigation determined that antenatal diagnosis and elective termination varied with the type of abdominal wall defect and selected demographic factors.     

The Value of Routine Early Pregnancy Ultrasound in the Antenatal Booking Clinic

Summary: The value of routine antenatal booking ultasound as an adjunct to, or as an alternative to the 18 to 20 week ultrasound, is not known. A study into the possible benefits of routine antenatal booking ultrasound was undertaken. One year's experience, involving 1,372 scans is described. The main medical benefits include the establishment or correction of gestational age (41.7% of all pregnancies) and the identification of multiple pregnancies (0.7%), nonviable pregnancies (1.4%) and other pregnancies requiring specialist antenatal clinic referral (0.7%), resulting in a total of 44.5% of patients in whom some benefit was obtained.     

Successful preimplantation genetic diagnosis for alpha- and beta-thalassemia in China

METHODS & RESULTS: In southern China, the average carrier rates of alpha-thalassemia and beta-thalassemia in the population are as high as 10.3% and 2.8%, respectively. Because of the high rates, they are known as 'social diseases' in some regions. In this study, the fluorescent gap PCR, which can detect the alpha-thalassemia Southeast Asia deletion (SEA deletion), was applied in four clinical applications of preimplantation genetic diagnosis (PGD) on four couples, among whom both partners were alpha-thalassemia carriers. Two patients became pregnant and two healthy babies were born, which confirmed the PGD results. The single cell multiplex nested PCR followed by reverse dot blot (RDB), which can simultaneously detect the 16 beta-thalassemia mutations in the Chinese population, was applied in four clinical PGD cycles on four couples among whom both partners were beta-thalassemia carriers. One pregnancy was achieved and it resulted in a live healthy birth, which confirmed the results of PGD. The amplification efficiencies of the two protocols described above were 89.5% and 93.9%, respectively. The allele drop-out (ADO) rates of these two protocols were 5.9% and 10.9%, respectively. CONCLUSION: These studies represent the successful applications of PGD protocols that can detect more than 95% of alpha- and beta -thalassemia mutations in the Chinese population.     

Primary preeclampsia in the second pregnancy: effects of changes in prepregnancy body mass index between pregnancies

OBJECTIVE: To examine the association between changes in prepregnancy body mass index (BMI) between a woman's first two pregnancies and incidence of preeclampsia in the second pregnancy. METHODS: We performed a population-based retrospective cohort analysis using data on women's first two singleton pregnancies (n=136,884) in Missouri (1989-1997). The study was restricted to women without preeclampsia in the first pregnancy. Prepregnancy BMI (kg/m(2)) was categorized as underweight (less than 18.5), normal (18.5-24.9), overweight (25-29.9), and obese (30 or greater). Analyses were adjusted for confounders through multivariable logistic regression. RESULTS: The incidence rate of preeclampsia in the second pregnancy was 2.0%. In comparison with women who were of normal BMI in both pregnancies, the risk for preeclampsia increased when BMI changed between the first two pregnancies from underweight to obese (odds ratio [OR] 5.6, 95% confidence interval [CI] 1.7-18.2), normal to overweight (OR 2.0, 95% CI 1.7-2.3), normal to obese (OR 3.2, 95% CI 2.5-4.2), and overweight to obese (OR 3.7, 95% CI 3.1-4.3). Being obese or overweight in both pregnancies was associated with increased risk of preeclampsia in the second pregnancy. Women who increased their BMI from underweight to normal or overweight between pregnancies had risks of preeclampsia comparable with those with normal BMI in both pregnancies. African-American, but not white, women who had a reduction in BMI from obese or overweight to normal between pregnancies remained at increased risk for preeclampsia. CONCLUSION: Increases in prepregnancy BMI from normal weight to overweight or obese between pregnancies are associated with increased risk of preeclampsia in the subsequent pregnancy. LEVEL OF EVIDENCE: II.     

Prevalence of antenatal depressive symptoms among women in Sabah,Malaysia

Objective: To investigate the prevalence of antenatal depression and to assess whether the common risk factors identified in previous studies were applicable to women in Sabah, Malaysia.

Methods: A prospective cohort study of 2072 women was conducted in Sabah during 2009–2010. Participants were recruited at 36–38 weeks of gestation to complete a self-administered questionnaire regarding their demographic, socioeconomic and health characteristics. The presence of depression was assessed using the validated Malay version of the Edinburgh Postnatal Depression Scale.

Results: The prevalence of antenatal depression was 13.8% [95% confidence interval (CI) 12.3%, 15.3%]. Women who were happy with the pregnancy [odds ratio (OR) 0.43, 95% CI 0.21, 0.89] and those with a planned pregnancy (OR 0.45, 95% CI 0.33, 0.60) were less likely to suffer from antenatal depression. Pregnant mothers who were taking oral contraceptives before pregnancy (OR 1.63, 95% CI 1.20, 2.22) and women who experienced antenatal anxiety (OR 3.17, 95% CI 2.35, 4.26) appeared to have an increased risk of antenatal depression.

Conclusion: A substantial proportion of women suffered from antenatal depression in Sabah, Malaysia. Screening and culturally tailored intervention programs targeting vulnerable subgroups of women in the early stage of pregnancy are recommended to deal with the problem.     

Early teenage pregnancies in Hull.

OBJECTIVES: To determine the pattern, obstetric outcome and factors that predispose to pregnancies in young teenagers in Hull. DESIGN: Retrospective study of case records of pregnancies from 1977 to 1988 in girls aged 16 years or less and in a control group of nulliparous women aged 20-24 years. SETTING: Hull health district hospitals. SUBJECTS: 1,660 pregnant teenagers and 3,576 nulliparas aged 20-24 years. MAIN OUTCOME MEASURES: Ages at pregnancy, number of pregnancies per year, gestational age at booking and delivery, antenatal complications, mode of delivery, utilization of contraceptives and some social factors. RESULTS: Of the 1,660 pregnancies in the young adolescents, 59-6% were terminations. The youngest girl was 11. The average annual incidence of early teenage pregnancies was 10.5 per 1,000 girls aged 10-16 compared to 6.4 per 1,000 in England and Wales. Physical characteristics and pattern of antenatal care were similar in the study and control groups. Anaemia was 2.53 times as common in teenagers (95% CI 2.19-2.9; P < 0.0001) while hypertension alone was 1.7 times as frequent (95% CI 1.28-2.4; P = 0.002). Pre-eclampsia and proteinuric disorders were similar in the two groups. Apart from prolonged pregnancy, which was significantly less common in the index group, other gestational ages at delivery and birthweights were the same in both groups. The caesarean section rate in the index group was 0.56 times that in the control group (95% CI 0.4-0.75; P < 0.0001) but forceps deliveries were 2.37 times as common in the index group (95% CI 1.80-3.12; P < 0.0001). The uncorrected perinatal mortality rates were 13.6/1000 and 15.7/1000 in the index and control groups respectively. CONCLUSION: Early teenage pregnancies are common in Hull and, contrary to previous reports, are physically well tolerated by the early adolescents who book early and attend antenatal clinics regularly. Ineffective utilization and ignorance of contraceptive methods are contributory factors. We recommend that emphasis should be placed on providing contraceptive services for teenagers and adopting a more purposeful and holistic approach to sex education.     

Pregnancy in patients with systemic lupus erythematosus

We reviewed the obstetrical performance and outcome of 15 pregnancies in patients with systemic lupus erythematosus (SLE) (study group) and compared them with 45 age and parity-matched normal pregnancies (control group). Eleven women (73.8%) were in remission phase and 4 (26.7%) had active disease at the time of conception. The time interval between disease diagnosis and the index pregnancy was 4.2 +/- 2.5 years. Two patients with renal involvement had lupus flare-up during the antenatal period. There was no case of lupus flare-up in the postpartum period. Gestational age at delivery was significantly lower in SLE patients (35.9 +/- 2.5 weeks) compared to the control group (37.4 +/- 2.2 weeks). The incidence of intrauterine growth retardation was significantly higher in the SLE patients (40%). There was no case of neonatal lupus or congenital heart block.     

Is the obstetric outcome of in vitro fertilized singleton gestations different from natural ones? A controlled study

Objective: To determine whether singleton IVF pregnancies carry adverse maternal or fetal outcome when compared with naturally conceived gestations.

Design: An analysis of the obstetric outcome of singleton IVF pregnancies in comparison with matched, naturally conceived singleton controls. Setting: In vitro fertilization unit and obstetric service at a tertiary medical center.

Patient(s): Two hundred sixty consecutive singleton IVF pregnancies and 260 naturally conceived singleton controls matched 1:1 for maternal age, parity, ethnic origin, and location and date of delivery.

Intervention(s): In vitro fertilization-ET.

Main Outcome Measure(s): The rate of antenatal obstetric complications, nonvertex presentation, cesarean section, preterm labor, low birth weight, small and very small for gestational age, neonatal intensive care unit admissions, and perinatal mortality.

Result(s): The rates of most antenatal complications were similar in both groups. Urinary tract infection was the only complication diagnosed significantly more frequently after IVF (7.3% versus 1.2%); however, the rates of severe urinary tract infection necessitating hospitalization were similar. The incidence of nonvertex presentation was also similar. The cesarean section rate was significantly higher among IVF patients (41.9% versus 15.5%). The rates of preterm labor, low birth weight, small and very small for gestational age, neonatal intensive care unit admissions, and perinatal mortality were comparable.

Conclusion(s): When controlling for maternal age, parity, ethnic origin, and location and date of delivery, singleton IVF pregnancies do not carry an increased risk for prematurity, low birth weight, or maternal or fetal complications. Still, these pregnancies are associated with a high rate of cesarean sections.     

Comparison of ultrasound and autopsy findings in pregnancies terminated due to fetal anomalies

OBJECTIVE: To compare antenatal diagnoses with autopsy findings in pregnancies terminated after ultrasound detection of fetal anomalies. A second aim was to study the quality of antenatal fetal diagnosis over time. DESIGN: Retrospective, multicenter study over two consecutive six-year periods in Uppsala and Stockholm. SETTING: Cases were identified through fetal autopsy reports. SUBJECTS: Three hundred and twenty-eight fetuses from pregnancies terminated between 1992 and 2003 because of ultrasonographically diagnosed anomalies. MAIN OUTCOME MEASURES: The findings at the last ultrasound examination were compared with the autopsy reports. RESULTS: In 299 cases (91.2%) ultrasound findings either exactly matched or were essentially similar to the autopsy findings. In 23 cases (7%) ultrasound findings were not confirmed at autopsy, but the postnatal findings were at least as severe as the antenatal ones. In six cases (1.8%) termination was performed for an anomaly which proved to be less severe than was predicted by ultrasound. The number of such cases was the same in both six-year periods, while the total number of cases increased from 113 in the first to 215 in the second period. Fetal examination provided further diagnostic information in 47% of the cases. In 10% a syndrome was disclosed. CONCLUSION: Termination of pregnancy was not always based on a correct antenatal diagnosis. All fetuses but one from terminated pregnancies had evident anomalies. In six cases (1.8%) the decision to terminate was based on suboptimal prognostic and diagnostic information. Fetal autopsy by an experienced perinatal pathologist is essential to provide a definitive diagnosis.     

The utility of ultrasound in late pregnancy compared with clinical evaluation in detecting small and large for gestational age fetuses in low-risk pregnancies

Objective: To determine the utility of ultrasound (US) in late pregnancy for identifying fetuses with growth disturbances.

Methods: This study was designed as a retrospective study of birth weights over a 12-month period at the Royal Hobart Hospital (RHH) and Barwon Health (BH). Data were collected from the discharge summaries and medical records at both hospitals targeting abnormal fetal weight below 10th percentile (small for gestational age – SGA) and above 90th percentile (large for gestational age – LGA).

Results: There were 4079 study patients from both hospitals. After weight adjustment by gender and gestational age, an abnormal fetal weight was detected in 741 cases (babies over the 90th percentile or below 10th percentile). One hundred and twenty-eight patients with high-risk pregnancies were excluded. Therefore, a total of 613 patients remained that were considered to be low-risk pregnancies with abnormal foetal growth; 305 patients from RHH and 308 from BH. The antenatal detection rate for LGA was 35.9%, at RHH by combination of US and clinical evaluation, while for BH it was 34.8% by clinical evaluation alone (p?=?0.910). The antenatal detection rate for SGA was 36.8% via US and clinical evaluation at RHH and 54.5% by clinical evaluation alone at BH (p?=?0.006).

Conclusion: This study shows no benefit in the use of routine US for the antenatal diagnosis of LGA compared with clinical evaluation in low-risk pregnancies. US evaluation was inferior to clinical evaluation in the antenatal diagnosis of SGA in low-risk pregnancies.     

Neonatal screening for alpha-thalassemia in southern Taiwan.

Screening peripheral or cord blood from newborn infants has been used for early detection of alpha-thalassemia conditions. The level of hemoglobin Bart's (Hb Bart's) in the blood correlates with the degree of alpha-gene deletion. Hence, the degree of gene deletion in an alpha-thalassemia carrier state can be estimated. Two thousand cord blood samples collected from the Tainan area were screened with cellulose acetate membrane electrophoresis for Hb Bart's. Ninety-nine of the 2,000 samples (4.95%) were positive for Hb Bart's. Concentrations of Hb Bart's varied from 3.2% to 30.7%. Of the 99 cases with Hb Bart's, 22 had Hb Bart's levels of 3.0% to 9.9%; 54 had Hb Bart's levels of 10.0% to 19.9%; and 23 had Hb Bart's levels of 20% to 40%. Routine cord blood screening by hemoglobin electrophoresis is recommended.     

Vascular-type disruptive defects in fetuses with homozygous alpha-thalassemia: report of two cases and review of the literature

BACKGROUND: The thalassemias are an inherited group of heterogeneous anemias in which one or more of the globin chains in the hemoglobin tetramer are absent. Fetuses with homozygous alpha-thalassemia, which is particularly prevalent in people of Southeast Asian extraction, experience deficient alpha-globin chain synthesis and cannot produce hemoglobin F (the primary fetal hemoglobin after 8 weeks' gestation). Instead, they produce an anomalous hemoglobin, hemoglobin Bart's, with an unusually high affinity for oxygen, leading to profound anemia and tissue hypoxia. METHODS AND RESULTS: Here we report on two fetuses with homozygous alpha-thalassemia who displayed structural defects of a vascular disruptive type. Both fetuses demonstrated limb anomalies, including terminal transverse limb deficiencies, and one fetus was found to have a brain malformation consisting of a neuronal migrational defect. The limb anomalies and suspected brain malformation were detected on prenatal ultrasound prior to confirmation of the diagnosis of alpha-thalassemia in one case; in the other case prenatal records were not available. While microcephaly, hydrocephalus, and retarded brain growth have been rarely reported in association with homozygous alpha-thalassemia, this is the first report of a true brain malformation in an affected fetus. Limb anomalies, on the other hand, appear to be more frequent. Recently, aggressive in utero and postnatal therapies for homozygous alpha-thalassemia have been attempted with some success. CONCLUSIONS: Our cases and those from the medical literature suggest that couples need to be counseled about the risks of congenital anomalies of a vascular disruptive type in affected fetuses. Furthermore, data from the literature suggests that in utero therapy may not significantly decrease these risks as such anomalies may be present prior to the institution of therapy. In addition, in hydropic infants with vascular disruptive defects, especially in those of Southeast Asian origin, homozygous alpha-thalassemia should be suspected as a likely etiology.     

Antenatal Screening for Identification of Couples for Prenatal Diagnosis of Severe Hemoglobinopathies in Surat, South Gujarat

Purpose

Our aim was to identify couples at risk of having a homozygous or compound heterozygous child with a severe hemoglobinopathy by antenatal screening and prenatal diagnosis in Surat, South Gujarat.

Method

Pregnant women were screened for hemoglobinopathies by means of red cell indices, the solubility test, cellulose acetate electrophoresis tests, and confirmation by HPLC. Husbands of the pregnant women having hemoglobinopathies were counseled and screened for hemoglobinopathies. The couples at risk were again counseled and referred to the National Institute of Immunohematology, where mutations in parents and fetuses were identified by molecular analysis. After prenatal diagnosis, the continuing pregnancies were followed up and infants were tested at birth.

Results

Out of 3,009 women, 37.04, 52.6, and 10.3 % were in the first, second, and third trimester of pregnancy, respectively. Among those having hemoglobinopathies, 102 (3.38 %) had the β-thalassemia trait, 46 (1.5 %) the Sickle cell trait, and 26 (0.86) had hemoglobin variants like Hb D_Punjab, Hb E, Hb D_Iran, Hb Q_India, Hb J_Paris-I, and Hb O_Indonesia. Out of the 14 couples at risk of having an affected child, 11 (78.5 %) couples opted for prenatal diagnosis. Three fetuses had homozygous β-thalassemia and hence the pregnancies were terminated. Follow up of normal or heterozygous fetuses confirmed the diagnosis.

Conclusion

During antenatal screening, we found many Hb variants of β and α globin chains. Late antenatal registration, non-cooperation of the husband for investigation, and refusal for prenatal diagnosis are the main hurdles in the hemoglobinopathy prevention program and awareness is necessary.