Knowledge gaps and confidence in counseling about aneuploidy screening and testing: A survey of prenatal care clinicians.

OBJECTIVES: Comprehensive counseling on prenatal genetic screening and diagnostic testing is challenging for clinicians. We sought to identify baseline clinician knowledge of prenatal genetic screening and diagnostic testing and needs to promote counseling aligned with ACOG recommendations. METHODS: We performed an anonymous, cross-sectional survey of clinicians at two unaffiliated, tertiary academic institutions to assess the knowledge of, confidence in, and time spent counseling on prenatal genetic screening and diagnostic testing. Stata (Version 17, College Station, TX) was used to perform descriptive statistics. Deductive and inductive coding was used to analyze responses regarding ideal education resources. RESULTS: The survey response rate was 78% (100/129). Only 36% of respondents correctly answered knowledge questions about prenatal genetic screening and diagnostic testing. A majority, 59% (16/39), of those confident or extremely confident in counseling were unable to answer all questions accurately. Respondents reported a median of 5.6 min (95% CI 4.9-6.4 min) spent counseling. Thematic analysis of free responses revealed desire for visual tools that discuss financial costs and patient values. CONCLUSIONS: Surveyed clinicians demonstrated deficiencies in knowledge about prenatal genetic counseling. To provide better and more comprehensive care, we noted a desire for the development of formalized resources for clinician and patient education.

The clinical significance of fetal echogenic bowel.

OBJECTIVE: The purpose of this study was to determine the incidence of cystic fibrosis, aneuploidy, and intrauterine infection with toxoplasmosis and cytomegalovirus in second-trimester fetuses with the sonographic finding of echogenic bowel. STUDY DESIGN: All cases of echogenic bowel that were diagnosed in our ultrasound unit from 1993 to 2000 were identified. Only cases in which bowel echogenicity was as bright as bone with no associated major fetal anomalies were included. Patients who were referred from other hospitals were excluded. Echogenicity was classified as focal or multifocal. Fetal karyotypes, cystic fibrosis carrier testing, and maternal serologic test results were determined. RESULTS: One hundred seventy-five fetuses in 171 pregnancies met inclusion criteria. Cystic fibrosis mutations were identified in 7 of 138 mothers (5%) and 9 of 86 fathers (10.5%) who were tested. Five fetuses were affected with cystic fibrosis. Fetal karyotype was obtained in 139 cases, and autosomal trisomy was diagnosed in 5 cases (3.6%). One hundred sixty-six patients were tested for toxoplasmosis, and 111 patients were tested for cytomegalovirus. There were no cases of congenital toxoplasmosis. There was maternal serologic and fetal pathologic evidence of cytomegalovirus infection in 1 case. In all cases of cystic fibrosis and aneuploidy, echogenicity was multifocal; in the case of cytomegalovirus, echogenicity was focal. CONCLUSION: In our population, mid-trimester fetal echogenic bowel was associated with a high prevalence of cystic fibrosis, aneuploidy, and cytomegalovirus (11/175 fetuses [6.3%]). This information should be considered when counseling patients after mid-trimester echogenic bowel is diagnosed.

Factors associated with fetal demise in fetal echogenic bowel.

OBJECTIVE: The purpose of this study was to determine risk factors associated with intrauterine fetal demise in fetuses with unexplained echogenic bowel that is diagnosed in the second trimester. STUDY DESIGN: A retrospective case-control study compared fetuses with echogenic bowel and fetal demise with fetuses with echogenic bowel who were live born. Fetuses affected with cystic fibrosis, aneuploidy, or congenital infection and fetuses diagnosed with major anomalies were excluded. Variables examined in the determination of risk factors for intrauterine fetal demise included intrauterine growth restriction, oligohydramnios, elevated maternal serum alpha-fetoprotein levels, and elevated maternal serum beta-hCG levels. Statistical analysis was performed with the Fisher exact test, Student t test, and logistic regression analysis. RESULTS: One hundred fifty-six fetuses met the inclusion criteria. There were 9 cases of intrauterine fetal demise and 147 live born control fetuses. The median gestational age of intrauterine fetal demise was 22.0 weeks (range, 17-39 weeks). Intrauterine growth restriction occurred more frequently in cases of intrauterine fetal demise than in live born infants (22.2% vs 0.7%; P =.009), as did oligohydramnios (44.4% vs 2.0%; P <.001) and elevated maternal serum alpha-fetoprotein levels (80.0% vs 7.7%; P: =.001). With the use of logistic regression analysis, elevated maternal serum alpha-fetoprotein was the strongest independent risk factor that was associated with intrauterine fetal demise (odds ratio, 39.48; 95% CI, 11.04%-141.25%). CONCLUSION: In our series, there was a 5.8% incidence of intrauterine fetal demise in fetuses with unexplained echogenic bowel. Elevated maternal serum alpha-fetoprotein is the strongest predictor of fetal demise in fetal echogenic bowel.

Circulating natural IgM antibodies and their corresponding human cord blood cell-derived Mabs specifically combat the Tat protein of HIV.

OBJECTIVE: IgM antibodies reactive with each of two specifically defined sequences of HIV Tat protein have been identified in sera from both HIV(+) and normal (HIV(-)) humans. This study was designed to confirm that those antibodies are innate immune factors capable of restriction of specific mechanisms of HIV pathogenicity attributed to the Tat protein. MATERIALS AND METHODS: Antibody-secreting hybridomas were generated from human cord blood cells and processed for monoclonality. Those Mabs reactive with each of the sequences of Tat with which the circulating antibodies are reactive were isolated and their heavy and light chains identified and DNA sequenced. Pools of IgM isolated from blood of normal humans, chimpanzees, rhesus macaques, and mice and the isolated Tat reactive Mabs were tested for capacity to inhibit Tat-induced human T-cell apoptosis. RESULTS: Human and chimpanzee IgM pools, as well as the human cord blood cell-derived Mabs, showed a definite capacity to inhibit the Tat-induced apoptosis, while the IgM pools of rhesus macaques or of mice did not. CONCLUSIONS: These studies establish that the circulating IgM of normal humans include innate antibodies capable of restriction of HIV Tat-induced pathogenesis. That capacity is shared by chimpanzee IgM but not by IgM of other primates or of mice. The identification of those human circulating antibodies as innate is confirmed by the display of similar epitopic identity and apoptosis inhibition capacity by Mabs from human cord blood cell hybridomas. Thus, the arsenal of human cord blood cell hybridomas provides a resource by which, specifically, the potential therapeutic role of the identified HIV Tat-reactive Mabs and, broadly, the fundamental role of innate antibodies in infection control may be explored.

Correlation between prenatal and neonatal birth order in twin pregnancy.

Little data is available correlating the in utero order of presentation and the birth order of twins. Our objective was to determine whether birth order in twin pregnancies corresponds to the order of presentation early in pregnancy. All twin pregnancies in which amniocentesis was performed from 1996 to 1998 were identified. Those with discordant genders that delivered at our hospital were included. Order of presentation was documented by ultrasound at the time of amniocentesis. Delivery data were obtained from review of medical records. Statistical comparison was done using two-tailed Fisher's exact test, Student's t-test, and Mann-Whitney U test. Sixty patients met inclusion criteria. Birth order corresponded to the order at the time of amniocentesis in 55 of 60 cases (91.7%). There was no difference in the rate of concordance of prenatal and neonatal birth order in twins delivered vaginally compared with those delivered abdominally (90.9 vs. 91.8%, p = 1.0). Cases with discordant prenatal and neonatal birth order had similar maternal ages, gestational ages at amniocentesis and delivery, and fetal presentation at delivery as cases with concordant birth orders. In dichorionic twin pregnancies, birth order is established early in gestation in >90% of cases regardless of route of delivery.

Ethical implications of aggressive obstetric management at less than 28 weeks of gestation.

BACKGROUND: The purpose of this study is to evaluate the outcome of infants born between 23 and 28 completed weeks of gestational age for whom aggressive obstetric management was performed. METHODS: Prenatal data were collected retrospectively from medical records. Neonatal mortality, early morbidity, and the outcome at one year corrected for postconceptional age (corrected age) were determined. RESULTS: Ninety-seven infants were included in the study. Serious early morbidity decreased with increasing gestational age. All the infants born prior to 24 weeks showed serious early morbidity: only 26% of the infants born at 24 weeks or later did. There was a significant decline in mortality with increasing gestational age, as there was also in birth weight (p<0.001, p<0.001). Sixty-seven percent of the infants prior to 24 weeks showed disability at one year corrected age whereas only 13% at 24 weeks or older did. The likelihood of having a surviving child without disability was 12.5% at 23 weeks, 39% at 24 weeks, 50% at 25 weeks, 52% at 26 weeks, and 70% at 27 weeks. CONCLUSION: Viability of fetuses at 23 and 24 weeks of gestation remains ethically and clinically controversial. It cannot be reliably established at that time that there is a fair balance of clinical goods over harms for the survivor at 23 weeks. On the other hand we should continue to treat fetuses at 24 weeks as viable, because 50% of them survived and 78% of those survived without disability. Neonatal mortality and survival with disability further decreases with increasing gestational age.

Twin pregnancy.

Recent advances regarding twin pregnancies have focused on several problems, including the detection and definition of risk in relation to chorionicity, the management of a pregnancy with a single anomalous fetus, the prediction of prognosis and the management of twin-twin transfusion syndrome, and the detection of preterm labor. These questions will be considered in this review.

Intrauterine sling: a complication of the stuck twin syndrome.

Stuck twin syndrome usually presents with polyhydramnios in the recipient sac and severe oligohydramnios in the donor sac. The donor is displaced against the uterine wall and remains adherent in that position. We present a case in which the diagnosis was more complicated, owing to the suspension of the stuck twin by a sling within the sac of the recipient. A monochorionic diamnionic twin gestation was complicated by twin-twin transfusion syndrome at 18 weeks of gestation. In our example, the stuck twin was suspended by a sling from the placenta. The sling band represented the intertwin membrane that was folded upon itself. Amniotic fluid from the recipient twin was present in three dimensions around the stuck twin, except for the sling band. The suspension of the stuck twin by a sling within the amniotic fluid of the recipient is an unusual manifestation of the stuck twin syndrome.