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Biomedical subjects

J Yankowitz

Publications and source records attributed to J Yankowitz.

At least 37 records · Page 2Linked to original sources

Update on vertical HIV transmission.

OBJECTIVE: To describe the factors that contribute to vertical transmission of human immunodeficiency virus (HIV) and review means of decreasing the risk of transmission. STUDY DESIGN: Medline search of the international English-language literature pertaining to HIV in pregnancy from 1989 to the present. Special emphasis was placed on articles published in the last three years related to vertical transmission as well as to antepartum, intrapartum and postpartum management to reduce transmission. RESULTS: High levels of maternal viral load and more advanced maternal disease are associated with a greater risk of vertical transmission of HIV. Antepartum and intrapartum maternal treatment with zidovudine and postpartum neonatal zidovudine treatment decreases the risk of transmission by two-thirds, at least in patients with earlier stages of the disease. Breast-feeding is a source of postpartum HIV transmission and may double the total transmission rate. CONCLUSION: Zidovudine should be used in pregnancy to decrease the viral load and reduce transmission of HIV to the fetus. Other antiviral agents should be used during pregnancy if indicated, although current information is lacking about their effects on the fetus and any potential benefits in decreasing vertical transmission of HIV. Breast-feeding should be avoided.

Adult↗

Sonographic and maternal serum screening abnormalities in fetuses affected by spinal muscular atrophy.

Fetuses with degenerative neurological disorders or metabolic diseases rarely exhibit sonographic abnormalities. As a result, prenatal diagnosis, when available, requires invasive testing. Prenatal diagnosis of spinal muscular atrophy (SMA) can be made by testing chorionic villi or amniocytes. Indirect genotype analysis by use of single- and multi-locus polymorphic microsatellites of the region 5q11.2-q13.3 is used. We present two cases of SMA that manifested at 11 and 16 weeks' gestation by the presence of abnormal ultrasound findings. Each case also had abnormal maternal serum screening.

Chorionic Gonadotropin↗

Polymerase chain reaction determination of RhC, Rhc, and RhE blood types: an evaluation of accuracy and clinical utility.

OBJECTIVE: Polymerase chain reaction amplification of a portion of the RhC/c/E/e gene could lead to a rapid, accurate determination of fetal RhC/c/E status. The purpose of this study was to evaluate the accuracy of this technique by testing for the first time a large number of deoxyribonucleic acid samples derived from individuals whose RhC/c/E status was established by standard serologic methods. We also evaluated the potential clinical utility of polymerase chain reaction to ascertain fetal antigen status. STUDY DESIGN: Samples were obtained from Centre d'Etude du Polymorphisme Humain families used for studies of genetic variation (n = 655). Deoxyribonucleic acid was extracted by standard techniques. With few modifications, published primers and reaction conditions were used. Samples were digested with restriction enzymes yielding characteristic electrophoresis patterns for RhC/c/E. Clinical utility was assessed by review of all patients evaluated for erythrocyte sensitization. RESULTS: RhC-positive (n = 479), RhC-negative (n = 176), Rhc-positive (n = 524), Rhc-negative (n = 131), RhE-positive (n = 131) and RhE-negative (n = 524) samples were evaluated. The sensitivity of RhC/ c and E typing by polymerase chain reaction was 98.3%, 98.1%, and 96.9%, respectively. The specificity of polymerase chain reaction for identifying the RhC/c/E antigens was 91.5%, 94.7%, and 99.2%, respectively. CONCLUSIONS: Although it would appear that use of polymerase chain reaction to establish RhC/c/E type could aid in evaluation of RhC/c/E sensitization, we are concerned about the instances of antigen-positive individuals characterized as antigen negative. Further study is necessary to determine if this reflects a polymorphism, mutation, a data coding error, or a combination. The Centre d'Etude du Polymorphisme Humain database is known to contain such errors at a rate that may surpass the error rate of our testing. A second molecular technique could be used to achieve better accuracy in the ascertainment of Rh C/c/E type. On the basis of a review of our patient population, molecular deoxyribonucleic acid techniques now available could aid the management of erythrocyte sensitization in pregnancy in > 96% of cases.

Blood Grouping and Crossmatching↗

Risk of preeclampsia in second-trimester triploid pregnancies.

OBJECTIVE: To determine the magnitude of the risk and the predictive clinical characteristics for development of preeclampsia when triploidy is diagnosed in the second trimester. METHODS: A retrospective analysis of databases maintained by the cytogenetics laboratories at the University of Iowa and University of North Carolina was performed to identify all cases of triploidy. We examined the karyotype, maternal serum screening (particularly the hCG level), ultrasound results, and evidence of maternal hypertensive disease. RESULTS: Seventeen cases of triploidy were identified between 1987 and 1996. Preeclampsia or hypertension complicated six of these cases with onset between 15 and 22.5 weeks' gestation. In these six cases, the serum hCG level was extremely high. Serum screening results were available in seven cases in which preeclampsia did not develop, and the hCG levels were under 0.09 multiples of the median in five of the seven cases. In all six cases in which preeclampsia or hypertension developed, there was sonographic evidence of placentomegaly. Sonographic findings in 16 of 17 cases revealed fetal growth restriction, oligohydramnios, fetal anomalies, placentomegaly, or a combination of these. CONCLUSION: In our series of pregnancies complicated by triploidy, the risk of developing preeclampsia or hypertension in the second trimester was 35%. It appears that elevated serum hCG levels and placentomegaly are associated with a higher risk of preeclampsia but low hCG levels are not. This information is important in counseling patients who are hesitant to terminate a pregnancy purely for a fetal abnormality, even if the anomaly is lethal.

Adolescent↗

Grief support programs: patients' use of services following the loss of a desired pregnancy and degree of implementation in academic centers.

Limited information is available concerning what resources to offer and how to best counsel patients after the loss of a desired pregnancy. The Touching Hearts Program at the University of Iowa offers support for such patients and their families. We reviewed responses to a questionnaire (n=128) sent to families who received support from the program. Data was evaluated using descriptive statistics or Pearson's Chi-square. A p value of <0.05 was considered statistically significant. Sixty-four percent of patients reported visiting with the chaplain, 67% had their baby blessed or baptized, and 80% held a funeral or memorial service. Ninety-two percent of patients were offered private time with their baby, and 87% elected to do so. While 66% of patients felt they had adequate time with their child, 85% indicated they would have appreciated additional opportunities to see their baby. Resources offered by the Touching Hearts Program were highly utilized by patients. Changes in health care may decrease funding for such programs, however, high patient utilization indicates a need for grief support programs at facilities involved in management of abnormal pregnancies. A survey of academic centers showed that the vast majority offer similar programs to their patients.

Abortion, Spontaneous↗

Nasopharyngeal teratoma. Report of a case with prenatal diagnosis and postnatal management.

BACKGROUND: Oral teratomas are rare entities. CASE: A patient was referred for elevations in the maternal serum alpha-fetoprotein. On ultrasound examination, a cyst was seen protruding from the fetal mouth. Postnatally, a teratoma was found to be filling the neonate's oral cavity. CONCLUSION: This case illustrates problems in determining the etiology of head and neck masses antenatally. It also shows that teratomas can appear to regress and yield positive amniotic fluid alpha-fetoprotein and acetyl-cholinesterase. The appropriate perinatal management of this potentially devastating disorder includes preparation for establishing an airway following delivery.

Adult↗

Prenatal diagnosis of Klippel-Trénaunay-Weber syndrome as a cause for in utero heart failure and severe postnatal sequelae.

Ultrasound examination led to prenatal diagnosis of Klippel-Trénaunay-Weber syndrome complicated by early fetal congestive heart failure. The postnatal course was complicated by the Kasabach-Merritt syndrome of thrombocytopenia due to platelet consumption within the haemangioma. There was need for neonatal cardiopulmonary resuscitation and limb amputation.

Abdomen↗

Prenatal ultrasound findings in hydrolethalus: continuing difficulties in diagnosis.

We present the prenatal ultrasound findings in a case of hydrolethalus. This case illustrates ongoing problems in differentiating hydrolethalus, both pre- and postnatally, from other midline malformation syndromes including Pallister-Hall, Smith-Lemli-Opitz, pseudo-trisomy 13, oral facial-digital syndrome, and Meckel syndrome. Hydrolethalus can also be difficult to distinguish from certain skeletal dysplasias such as the short rib-polydactyly syndromes and campomelic dysplasia. Tests which can aid in diagnosis are presented.

Adult↗

Blood transfusion for haemolytic disease as a cause of leukocytosis in the fetus.

We evaluated the effect of fetal intravascular transfusion (IVT) of leukocyte-poor red blood cells to correct fetal anaemia due to haemolytic disease on the fetal leukocyte count in 153 patients. Initial, mid-transfusion, and closing haematological studies were obtained when possible. The effect on leukocyte subsets was evaluated by the manual differential count. Fetal leukocyte count increased an average of 18.0 per cent during all IVTs (P < 0.01), despite the dilutional effect of the transfusion. The degree of leukocytosis increased with subsequent transfusions. The smallest (10.1 per cent) change occurred during the initial transfusion. A 41.8 per cent increase was noted during the sixth procedure. There was no relation between leukocytosis and gestational age, volume of transfusion, changes in umbilical vein pressure, or hydrops. Forty-two per cent of the increase was due to expansion of the neutrophil pool and 22 per cent was due to expansion of the monocyte pool. The neutrophil count increased 29 per cent (P < 0.01) and monocytes increased 64.7 per cent (P < 0.001). There was no change in eosinophil and lymphocyte counts. Both an immune aetiology and an effect of inflammatory agents may contribute to this leukocytosis.

Blood Transfusion, Intrauterine↗

Three-dimensional ultrasound in the evaluation of fetal head and spine anomalies.

OBJECTIVE: To test the application of three-dimensional (3-D) ultrasound for the antenatal diagnosis of fetal head and spinal anomalies. METHODS: Twenty-five fetuses with head or spinal anomalies and ranging in gestational age from 16 to 33 weeks were studied prospectively: 11 with a control nervous system anomaly (neural tube defect [n = 4], encephalocele [n = 2], hydrocephalus [n = 4], and anencephaly [n = 1]), 13 fetuses with a family history or suspicion of cleft lip or palate, and one with a cloverleaf skull malformation. A volume scan was performed after the two-dimensional examination was complete. The mechanical transducer scans up to 40 degrees in less than 4 seconds, acquiring the data for a pyramid-shaped tissue volume. Three matched and dynamically linked images representing the X, Y, and Z planes are displayed simultaneously. When one image is manipulated, the remaining images are updated automatically to maintain a 90 degrees difference. After the ideal three orthogonal planes are identified, a 3-D image can be reconstructed. A variable number of scan images are possible, depending on the volume size and the data acquisition time. Processing time for the reconstruction depends on volume size, the number of scan images included, and the degrees of rotation of the final image. RESULTS: The three orthogonal planes proved most helpful delineating the exact nature and anatomic level of the defect. No examination was delayed or required repetition because of suboptimal fetal positioning. The enhanced confidence achieved by our being able to delineate the precise anatomic level and extent of the defect improved patient counseling. The 3-D reconstructions clarified and documented the true magnitude of the defects and on occasion allowed a diagnosis not possible by either two-dimensional or nonreconstructed 3-D imaging. CONCLUSION: Our experience with 3-D ultrasound suggests that it is an advance in high-quality ultrasound. Its greatest advantage is that it allows the user to view simultaneously the three orthogonal planes.

Central Nervous System↗

Differences in practice patterns between obstetricians and family physicians: use of serum screening.

OBJECTIVE: Our purpose was to compare the use of the Iowa Expanded Serum Screening program (maternal serum alpha-fetoprotein, human chorionic gonadotropin, and unconjugated estriol) by obstetricians and family physicians. STUDY DESIGN: A registry was used to identify all obstetricians (160) and family physicians (404) who practice obstetrics in Iowa. A questionnaire exploring attitudes and practice patterns related to serum screening was mailed to these physicians. RESULTS: The response rate was 80.3% overall. There were significant differences in the offering of serum screening (p < 0.001) for following three responses: obstetricians were more likely to offer screening through the Iowa Expanded Serum Screening Program than were family physicians (89.3% vs 57.2%) and less likely to offer screening outside the state program (9.9% vs 39.0%), whereas family physicians were more likely to not offer screening (0.8% vs 3.8%). When the responses of the physicians who offer screening were analyzed, several differences emerged: (1) obstetricians were more likely than family physicians to offer screening to all obstetric patients (99.2% vs 92.1%, p < 0.05), whereas family physicians were more likely to offer testing to patients with perceived risks for neural tube defects or chromosomal abnormalities and to those patients who requested it, (2) obstetricians were more likely to recommend screening than family physicians (39.0% vs 25.7%, p < 0.05), who more often discouraged testing, although the latter did not reach statistical significance, (3) family physicians more than obstetricians felt that screening was not necessary if the patient would not terminate the pregnancy for neural tube defects (41.6% vs 19.1%, p < 0.001) or chromosomal abnormalities (39.7% vs 21.4%, p < 0.01), and (4) obstetricians used nurses to counsel patients to a much greater extent than family physicians did (44.6% vs 14.0%, p < 0.001). CONCLUSION: There is a significant difference in practice patterns between obstetricians and family physicians in their reported use and presentation of maternal serum screening. Guidelines based on outcome studies should be developed and followed by obstetricians and family physicians.

Chorionic Gonadotropin↗

Assessment of the post-term pregnancy.

A post-term pregnancy is one that lasts beyond 42 weeks of confirmed gestational age. The goal of management in the post-term pregnancy is to avoid stillbirth, meconium aspiration and neonatal death. Ultrasonography obtained at term does not accurately predict gestational age. In pregnancies that progress beyond 41 weeks of confirmed gestational age, fetal well-being has been assessed by ultrasound evaluation of amniotic fluid volume, fetal breathing, fetal tone and fetal movement, in addition to nonstress testing. A definitive assessment plan for the post-term pregnancy should reduce the risk of maternal, fetal and neonatal morbidity.

Amniotic Fluid↗

Modern management of Rhesus disease.

The cloning of the RhDCcEe complex has made it likely that the polymerase chain reaction will be incorporated into the modern management of rhesus sensitization. Currently, the accuracy of this technique is under evaluation. Its specific role in management protocols is not yet clear. The use of this technology will hopefully avoid the need for cordocentesis or serial amniocenteses in some patients.

Amniocentesis↗

Prenatal ultrasound diagnosis of amelia.

Amelia is a very rare form of limb reduction defect. The incidence of isolated amelia with or without other limb reductions is 0.4 per 100,000 births. We report a cluster of three cases diagnosed prenatally. One was isolated tri-amelia and two were isolated tetra-amelia.

Adult↗

Polymerase chain reaction determination of RhD blood type: an evaluation of accuracy.

OBJECTIVE: To evaluate the accuracy of polymerase chain reaction (PCR) amplification of a portion of the RhD gene by testing a large number of DNA samples derived from individuals whose RhD status was established by the standard serologic method. METHODS: Seven hundred sixty-five samples were obtained from two sources: subjects taking part in studies at the University of Iowa Hospitals and Clinics (n = 107), and Centre d'Etude du Polymorphisme Humain (CEPH) families used for studies of genetic variation (n = 658). Deoxyribonucleic acid was extracted from blood samples of University of Iowa volunteers and from CEPH families by standard techniques. With few modifications, published primers, reaction and electrophoresis conditions, which yield a 1200-bp fragment in all individuals and a 600-bp fragment in RhD-positive individuals, were used. RESULTS: By standard serologic techniques, we identified samples from 632 RhD-positive and 133 RhD-negative individuals. Two (both from CEPH) of the 632 RhD-positive individuals were characterized as RhD-negative by PCR. Seven of the 133 RhD-negative samples were judged to be RhD-positive by PCR because of the presence of a light 600-bp band. Despite repeated attempts, no bands or DNA were identified in one RhD-negative sample. Thus, the sensitivity of RhD typing by PCR was 99.7%, the specificity 94.0%. CONCLUSION: Based on our data, it would appear that the use of PCR to establish RhD type can be introduced cautiously into current management schemes in the evaluation of RhD sensitization.

Blood Grouping and Crossmatching↗

Medical fetal therapy.

Medical fetal therapy describes any therapy in which a pharmacological agent is administered to a woman or her fetus in order to avoid or alleviate fetal disease. Treatment of the fetus with blood products or injection of other agents can also be considered to be medical fetal therapy. This chapter reviewed the application of medical fetal therapy to the prevention of NTDs, treatment of endocrinological and metabolic disorders, such as CAH, thyroid disease and others, and the medical management of cardiac arrhythmias. Several haematological disorders and reviews of recent advances in genetic manipulation involving the use of stem-cell implantation were discussed. The field of medical fetal therapy has been extremely exciting and continues to evolve at a rapid pace. No doubt, future advances involving genetic manipulation or the use of molecular genetic techniques for diagnosis will continue to keep this field at the forefront of treatment and prevention of fetal disorders.

Arrhythmias, Cardiac↗