Do pregnant women benefit from hemoglobinopathy carrier detection?

A 45% sample of all pregnancies in Rochester, N.Y. over a five-year period showed that 4.2% of pregnant women had a hemoglobinopathy. Sixty-six percent of these women did not know they had such an abnormality, and 80% did not understand its reproductive significance. Sixty-eight percent of women informed they were positive came for counseling. Fifty-seven percent of counseled women had the baby's father tested. Forty-seven percent of couples at risk offered amniocentesis wanted it. (table; see text) A woman was more likely to want her partner tested if she had a more thorough knowledge of the disease or viewed having an affected child as more burdensome. The partner was more likely to come for testing if the couple were living together than if living apart. Prenatal hemoglobinopathy screening is accepted by providers and pregnant women, at least when expert services are provided at no charge to either. Women and couples use the information provided to pursue their reproductive goals.

Prenatal hemoglobinopathy screening: receptivity of Southeast Asian refugees.

Because of the availability of safe, accurate prenatal diagnosis for hemoglobinopathies, we wanted to know if pregnant women identified as carriers of a hemoglobinopathy by prenatal screening use this information to determine whether their fetus is at risk. Blood from all pregnant women served by a 40 percent sample of prenatal care providers in Rochester, New York, over 51 months underwent Hb electrophoresis and MCV +/- Hb A2 determination. The frequency of positive was 33/229 (14 percent) for Southeast Asians versus 567/15,824 (3.6 percent) for non-Southeast Asians. Of the positives, 29 (88 percent) Southeast Asians came for counseling versus 348 (61 percent) others. Of those counseled, 26 (90 percent) Southeast Asians had their partners tested, as did 211 (61 percent) others. Of the partners tested, 17 (65 percent) Southeast Asians were also positive compared to 44 (21 percent) others. Of couples offered prenatal diagnosis, 50 percent of each group (4/8 and 17/34) accepted. Of those accepting, all Southeast Asians actually underwent the procedure, while seven (41 percent) others miscarried or failed to keep their appointment. Thus, in our pregnant population, Southeast Asians are four times more likely to be hemoglobinopathy carries than non-Southeast Asians, and Southeast Asian carriers are four times more likely to warrant, want, and undergo prenatal diagnosis for a hemoglobinopathy than non-Southeast Asian carriers.

A RICH detector for hadron identification at JLab.

The "standard" Hall A apparatus at Jefferson Lab (TOF and aerogel threshold Cherenkov detectors) does not provide complete identification for proton, kaon and pion. To this aim, a proximity focusing C(6)F(14)/CsI RICH (Ring Image CHerenkov) detector has been designed, built, tested and operated to separate kaons from pions with a pion contamination of a few percent up to 2.4GeV/c. Two quite different experimental investigations have benefitted of the RICH identification: on one side, the high-resolution hypernuclear spectroscopy series of experiments on carbon, beryllium and oxygen, devoted to the study of the lambda-nucleon potential. On the other side, the measurements of the single spin asymmetries of pion and kaon on a transversely polarized (3)He target are of utmost interest in understanding QCD dynamics in the nucleon. We present the technical features of such a RICH detector and comment on the presently achieved performance in hadron identification.

Nucleon form factor studies at JLab.

The ratio of the electromagnetic proton elastic form factors, G(p)(E)/G(p)(M), has been measured at Jefferson Lab up to Q(2) approximately 9(GeV/c)(2), by using the CEBAF 6GeV electron beam, and revealing an unexpected and challenging physical behaviour. The 2014 scheduled 12GeV upgrade will allow the measurement of G(p)(E)/G(p)(M) up to Q(2) approximately 15(GeV/c)(2), by taking advantage of the new large-acceptance forward spectrometer Super BigBite (SBS) in Hall A. Measurements of neutron form factors in the region around 10(GeV/c)(2), where quark confinement plays an important role, are expected to show the behaviour already observed in the proton case.

Prenatal screening for hemoglobinopathies. I. A prospective regional trial.

Prenatal hemoglobinopathy screening was chosen as a model system for the study of patient receptivity to unsolicited genetic information. Providers of prenatal care in Rochester, NY, were offered free testing of all their prenatal patients and genetic counseling of women found positive. The 18,907 prenatal samples tested in a 5-year period represented 35.1% of the pregnancies in the Rochester metropolitan region. A hemoglobinopathy was found in 810 pregnancies (4.3%). Of the 21 different types of hemoglobinopathies detected, the most common were sickle cell trait (59%), hemoglobin C trait (19%), beta-thalassemia trait (11%), and hemoglobin E trait (5%). At the time of phlebotomy, 75% of the pregnancies were of less than 18 wk duration. Sixty-six percent of the pregnancies occurred in patients unaware of their diagnosis, and 80% occurred in patients unaware that they might be at risk for a child with a serious blood disorder. Of the 810 positive pregnancies, 551 (68%) occurred in patients who came for counseling. Of 453 women counseled during their first screened pregnancy, 390 (86%) said they wanted their partners tested and 254 (55%) had their partner tested. In the 77 pregnancies thus found to be at risk, the couple was too late for prenatal diagnosis in 12 cases, and the condition for which the fetus was at risk was too mild in 12 cases. Prenatal diagnosis was offered in the remaining 53 pregnancies and was accepted by 25 couples (47%). These results indicate that unselected patients in the primary care setting in this region, even though pregnant, are receptive to and utilize genetic information.

Prenatal screening for hemoglobinopathies. II. Evaluation of counseling.

Learning during genetic counseling is often below expectations, especially in the context of genetic screening. In this report we describe learning as a result of genetic counseling of 298 pregnant women identified as hemoglobinopathy carriers, 234 with sickle cell trait and 64 with beta-thalassemia trait. Counseling was designed to provide the information needed in a simple, clear, and nondirective manner. A special videotape produced for this purpose provided dramatization and a role model illustrating an appropriate response. After viewing the videotape the counselee had an opportunity to question the counselor and to have any misconceptions corrected. Questionnaires revealed significantly increased knowledge as a result of counseling in each of the three hemoglobinopathy subject areas tested-namely, clinical manifestations, genetics, and prenatal diagnosis. Five factors correlated with higher knowledge scores after counseling-namely, a younger patient age, more years of education, knowledge of having trait before this identification, knowledge of the baby's father having trait before counseling, and having no prior children.

Prenatal screening for hemoglobinopathies. III. Applicability of the health belief model.

A comprehensive prenatal hemoglobinopathy screening program in Rochester, NY, has been described in a preceding paper in this issue of the Journal. A woman identified as a carrier may face three decisions. The first is whether to accept the offer of counseling. The second is whether to have her partner tested. If her partner also tests positive, then the third decision is whether to accept the offer of prenatal diagnosis. This report analyzes factors affecting her decision, with special attention being given to factors invoked by the Health Belief Model. Factors predicting that a patient who we identified as a carrier would come for counseling included the following: patient had no prior knowledge that she is a carrier (P less than .001), a gestational age less than 18 wk (P less than .01), and Caucasian race (P less than .05). For sickle cell trait counselees and beta-thalassamia trait counselees, factors found to predict patient's intent to have partner tested were the following: a greater postcounseling knowledge of the disease (P less than .009), a lesser perceived burden of intervention (P less than .011), and belief that the partner is also a carrier (P less than .008). Also for sickle cell trait counselees and beta-thalassemia trait counselees, factors predicting that the partner actually will be tested were the following: living with the partner (P less than .001), gestational age at identification less than or equal to 18 wk (P less than .001), a lesser perceived burden of intervention (P less than .002), and a greater perceived seriousness of the disease (P less than .05).(ABSTRACT TRUNCATED AT 250 WORDS)

Prenatal genetic counseling for hemoglobinopathy carriers: a comparison of primary providers of prenatal care and professional genetic counselors.

Health personnel trained in medical genetics are insufficient to meet the demand for genetic services. Methods must be found to enable primary care providers to offer commonly needed genetic services themselves. In our recently reported community-wide prenatal screening program for hemoglobinopathies, 36% of women detected to have a hemoglobinopathy did not come to a tertiary center for counseling and thus may have not benefited from testing. To determine whether the efficiency of the program could be increased if counseling were provided by the prenatal care provider (obstetrician or family practitioner), we developed a pilot training program on the basis of our experience in offering such services and enlisted 68% of regional prenatal care providers to participate. The proportion of patients detected to have a hemoglobinopathy who received counseling was similar in the primary and tertiary provider groups: 59% versus 50%, respectively, for sickle trait, and 69% versus 66%, respectively, for beta-thalassemia trait. Knowledge after counseling was also similar for the primary and tertiary provider groups: 64% versus 66% (mean % correct), respectively, for sickle trait, and 79% versus 78%, respectively, for beta-thalassemia trait. However, the two provider groups significantly differed with regard to whether or not the patient had her partner tested. For sickle trait, it was 25% for the primary providers but 49% for the tertiary providers (P < .001). For beta-thalassemia trait, it was 47% for the primary providers but 78% for the tertiary providers (P < .001).(ABSTRACT TRUNCATED AT 250 WORDS)

[Etiology and rational therapy of acute otitis media in adults]. / Eziologia e razionale terapeutico dell'otite media acuta nell'adulto.

Acute otitis media (AOM) is an infection frequently found in children, but tends to be less frequent with age and its frequency in adults is only about 1%. The etiology of AOM in children is prevalently bacterial; numerous studies have shown the most common etiological agents. But the etiology in adults has not been well studied. The authors examined 40 cases of AOM in adults, the pathologic material was obtained by needle aspiration; in 32 samples there was bacterial growth. In the majority of the cases (94%) the bacteria isolated were the same as those found in children: S. pneumoniae, H. influenzae and B. catarrhalis; much rarer were S. pyogenes and S. aureus. On the potential beta-lactamase producing strains, this activity was measured. From our findings we believe that there is the necessity to have a rational antibiotic therapy (due to the difficulty in obtaining pathologic material) with active drugs for the probable etiological agents of AOM.

Prenatal hemoglobinopathy screening. IV. Follow-up of women at risk for a child with a clinically significant hemoglobinopathy.

To determine the benefits and burdens of prenatal hemoglobinopathy carrier identification and genetic counseling and its impact on subsequent reproductive behavior, we recontacted women whom we had previously identified as at risk for having a child with a clinically significant hemoglobinopathy, regardless of whether they had accepted the offer of prenatal diagnosis. Of the 46 such women, 31 were available for interview. These 31 women had received offers of prenatal diagnosis in 47 pregnancies. Seventeen had been accepted, and 30 had been declined. The proportion of patients accepting the offer of prenatal diagnosis was higher for the index pregnancy (50%) than for subsequent pregnancies (22%). The mean interval between the initial counseling of the patient and the follow-up interview was 43 mo (standard error +/- 2.7 mo). Ninety-four percent of those interviewed recalled having received information from the screening program; 74% recalled the name of their condition; 90% knew that trait did not affect their health; 84% recalled the name of the condition for which their fetus had been at risk; and 77% could state at least one symptom of the disease. Of the 29 women asked whether they intended to use prenatal diagnosis in future pregnancies, 13 said yes and 16 said no. Of the 26 patients asked about satisfaction with their previous decision about prenatal diagnosis, all were satisfied with their decision. Eighteen said they would make the same decision in their next pregnancy, but seven patients said they would not, and one was undecided.(ABSTRACT TRUNCATED AT 250 WORDS)

[Evaluation of a new system for the simultaneous identification and antibiotic sensitivity testing of gram-negative bacilli by automation]. / Valutazione di un nuovo sistema per la identificazione e l'antibiogramma contemporanei di bacilli gram-negativi in automazione.

ABAC- IDENTIBIOGRAMMA II is a new system allowing the carry out of antimicrobial susceptibility testing on various bacterial groups and also the fully automatic simultaneous susceptibility testing and identification of Gram-negative bacilli (urinary and not). Particularly most species of Enterobacteriaceae and Aeromonas hydrophila, Acinetobacter sp., Pseudomonas sp. can be identified. This system has two important characteristics, due to a computerized program: that is the possibility of using sensitivity data as complement of the biochemical assays to obtain identification and the directions for use transmitted through the display. The validity of system and the reliability of its results have been verified.

Chronology of particle emission from the E/A=61 MeV 36Ar+27Al reaction.

The emission time chronology of neutrons, protons, and deuterons from the E/A=61 MeV 36Ar+27Al reaction is deduced from two-particle correlation functions.

Possibility to deduce the emission time sequence of neutrons and protons from the neutron-proton correlation function.

Experimental information has been derived from the neutron-proton correlation function in order to deduce the time sequence of neutrons and protons emitted at 45 degrees in the E/A = 45 MeV 58Ni + 27Al reaction.