Deepika Deka

Use of HbA estimation by CE-HPLC for prenatal diagnosis of β-thalassemia; experience from a tertiary care centre in north India: a brief report

Abstract Prenatal diagnosis (PND) of β-thalassemia is offered by DNA based mutation analysis at 10–12 weeks gestation using chorionic villous biopsy specimens. Most centers offering PND search for five common mutations prevalent in India, which cover more than 90% of patients. However in those families where the mutation cannot be identified in the parents, PND becomes difficult by mutation detection. The technique thus followed is estimation of globin chain synthesis ratio in second trimester cord blood samples. However, this technique is cumbersome and not available in most of the centres. We evaluated 112 cord blood samples (74 were informative) for analyzing hemoglobin A (HbA) levels by cation-exchange high performance liquid chromatography (CE-HPLC) using the BioRad β-thal short program between 18 and 22 weeks of gestation. A normal range for the population was calculated by running 14 cord blood samples of non-thalassemic abortuses of the same gestation. A 6 month post-natal follow-up was possible in 18 cases. All but one of these corroborated their PND.

Multifocal polypoid endometriosis in a young woman simulating vaginal and pelvic neoplasm

A 27-year-old nulliparous woman presented with large finger-like projections protruding from her vagina. Intraoperatively there were deposits in the pouch of Douglas. Clinical presentation and history of vaginal bleeding suggested malignancy. Histopathology of both the vaginal and pouch of Douglas masses showed endometrial glands and stroma. There was no architectural complexity or cytological atypia of glands or stroma. Immunohistochemistry for oestrogen receptor, progesterone receptor and CD10 was positive. Based on morphological and immunohistochemical findings, multifocal polypoid endometriosis was diagnosed; this is a recently described entity having a clinical presentation and age range completely different from conventional or non-polypoid endometriosis. Although an association between tamoxifen use, unopposed oestrogen therapy and polypoid endometriosis has been suggested, the patient had no history of tamoxifen or oestrogen intake. Polypoid endometriosis should be part of the differential diagnosis in young women presenting with vaginal growth.

Direct Fetal Intravenous Immunoglobulin Infusion as an Adjunct to Intrauterine Fetal Blood Transfusion in Rhesus-Allommunized Pregnancies: A Pilot Study

Objectives: To study the usefulness of direct fetal intravenous immunoglobulin (IVIG) infusion along with intrauterine transfusion (IUT) in the management of severe fetal anemia in rhesus (Rh) alloimmunized pregnancies. Methods: Thirty-four consecutive Rh-isoimmunized pregnant women who required serial IUTs received either blood alone (control group, n = 16) or IVIG and blood (study group, n = 18). Pregnancies were followed up to delivery, and fetal outcome was recorded. The rate of fall of hematocrit was measured and compared between the two groups. Results: There was a slower rate of fall of hematocrit in the study group (IUT and IVIG) compared to the control group (only IUT). The mean rate of fall was 0.72 ± 0.54% per day in the study group while it was 1.29 ± 0.95% per day in the control group (p = 0.005). Conclusion: Fall of fetal hematocrit was reduced in the study group. The results of this pilot study can be used to time the next transfusion in patients receiving IVIG along with IUT (taking the rate of fall as 0.70%). This may eventually result in decreasing the number of transfusions per fetus.

Colony-stimulating activity of fetal liver cells: synergistic role of stem cell factor in bone marrow recovery from aplastic anemia

Previously, we and others have shown that fetal liver infusion (FLI) leads to autologous hematopoietic improvement in 40-54% of patients with aplastic anemia. However, whether this recovery was spontaneous or the effect of the infused liver cells was not clear. To dissect the role of FLI in autologous hematopoietic recovery, the colony-supporting potential of fetal liver-conditioned medium (FLCM) was evaluated in bone marrow (BM) cells of normal adult and aplastic anemia patients. In both cases, each sample of FLCM supported the growth of colony-forming cells in semi solid culture medium. The FLCM was assayed for the presence of four principal colony-stimulating cytokines, namely stem cell factor (SCF), granulocyte-macrophage colony-stimulating factor (GM-CSF), interleukin-3 (IL-3), and erythropoietin (Epo). While GM-CSF, IL-3, and Epo were present in insignificant amounts or were altogether absent, 50-635 pg/ml of SCF was found in 8 of the 13 FLCM samples tested. Preliminary results of bioneutralization assay indicated the possible role of SCF, secreted by the FL cells, in colony-supporting activity of aplastic anemia and normal BM cells. Overall, our in vitro study implicates the paracrine role of infused FL cells in regenerating autologous hematopoiesis in aplastic anemia patients.

Clinical correlates of pain and anxiety in prenatal diagnostic procedures.

Objective: To study patient perception of pain and anxiety before and after amniocentesis (AC) and transabdominal chorionic villus sampling (CVS) and the clinical correlates of pain and anxiety. Methods: 92 women underwent AC and 78 CVS. Visual analog scale was used to quantify pain and anxiety, immediately before and after the procedure. Factors which could affect pain and anxiety were noted. Results: The pain and anxiety anticipated before the procedures were significantly less than actually perceived. The pre-procedure anxiety did not correlate with post-procedure pain. There was no correlation between anticipated pain or anxiety and age, parity, education, socioeconomic status, and history of procedure in previous pregnancy in both the AC and CVS groups. Post-procedure pain did not correlate with age, parity, education, socioeconomic status, abdominal scar, placental location, number of needle insertion, repeat procedure or abdominal wall thickness in either group. However, on multiple linear regression the overall post-procedure pain was associated with the number of needle insertions. Conclusion: Though pre-procedure pain and anxiety levels are high, most patient experience less pain and anxiety after the procedure.