Challenges of Pre- and Post-Test Counseling for Orthodox Jewish Individuals in the Premarital Phase.

The Jewish community has traditionally taken ownership of its health, and has taken great strides to raise awareness about genetic issues that affect the community, such as Tay-Sachs disease and Hereditary Breast and Ovarian Cancer syndrome. Thanks in part to these heightened awareness efforts, many Orthodox Jewish individuals are now using genetics services as they begin to plan their families. Due to unique cultural and religious beliefs and perceptions, the Orthodox Jewish patients who seek genetic counseling face many barriers to a successful counseling session, and often seek the guidance of programs such as the Program for Jewish Genetic Health (PJGH). In this article, we present clinical vignettes from the PJGH's clinical affiliate, the Reproductive Genetics practice at the Montefiore Medical Center. These cases highlight unique features of contemporary premarital counseling and screening within the Orthodox Jewish Community, including concerns surrounding stigma, disclosure, "marriageability," the use of reproductive technologies, and the desire to include a third party in decision making. Our vignettes demonstrate the importance of culturally-sensitive counseling. We provide strategies and points to consider when addressing the challenges of pre- and post-test counseling as it relates to genetic testing in this population.

First- and second-trimester Down syndrome screening markers in pregnancies achieved through assisted reproductive technologies (ART): a FASTER trial study.

OBJECTIVE: To determine whether first- and second-trimester Down syndrome screening markers and screen-positive rates are altered in pregnancies conceived using assisted reproductive technologies (ARTs). METHODS: ART pregnancies in the multicenter FASTER trial were identified. Marker levels were evaluated for five types of ART: in vitro fertilization with ovulation induction (IVF-OI), IVF with OI and egg donation (IVF-OI-ED), IVF with ED (IVF-ED), and intrauterine insemination with OI (IUI-OI) or without OI (IUI). Each group was compared to non-ART controls using Mann-Whitney U analysis. RESULTS: First-trimester marker levels were not significantly different between ART and control pregnancies, with the exception of reduced PAPP-A levels in the IUI-OI group. In contrast, second-trimester inhibin A levels were increased in all ART pregnancies, estriol was reduced and human chorionic gonadotropin (hCG) was increased in IVF and IUI pregnancies without ED, and alpha-fetoprotein (AFP) was increased in ED pregnancies. Second-trimester screen-positive rates were significantly higher than expected for ART pregnancies, except when ED was used. CONCLUSIONS: These data show that ART significantly impacts second-, but not first-, trimester markers and screen-positive rates. The type of adjustment needed in second-trimester screening depends on the particular type of ART used.

Importance of early recanalization of the occluded coronary artery in acute myocardial infarction for preservation of left ventricular function.

Ninety-two patients with acute myocardial infarction, treated with intracoronary thrombolysis within 3 h from the onset of ischemic symptoms, were studied with coronary arteriography and left ventriculography. These examinations were repeated after 2 to 4 weeks to assess the importance of duration of ischemia on recovery of regional and global left ventricular pump function. Patency was achieved acutely and maintained at control angiography in 73 patients (87%), who were subdivided into three groups according to duration of ischemia before reperfusion: group 1 (29 patients): revascularized within 3 h; group 2 (22 patients): revascularized between 3 and 4 h; group 3 (22 patients): revascularized after 4 h. Patency was acutely achieved, but not maintained at control angiography in 11 patients (group 4), while thrombolysis was unsuccessful in eight patients (group 5). In group 1 there was a significant reduction in the number of hypokinetic segments (P less than 0.001) and a significant increase in mean percentual area change of hypokinetic segments (P less than 0.001) and in global ejection fraction (P less than 0.001). A still significant, but less evident improvement in these parameters was also seen in group 2 (P less than 0.05, P less than 0.01, P less than 0.01 respectively). Insignificant changes, with only occasional improvements were observed on group 3, while a tendency toward deterioration was found in group 4. A clear and significant (P less than 0.001) worsening of local and global ventricular function was detected in group 5. Our results indicate a significant inverse relationship between duration of ischemia and left ventricular functional improvement. Particularly, the first 3 to 4 h after onset of ischemic symptoms are critical for preservation of left ventricular function (group 1 and 2). Reperfusion after 4 h (group 3) is only rarely associated with improvement of ventricular motion. The importance of very early pharmacological thrombolysis and of maintenance of coronary patency is stressed.