Exploring experiences and expectations of prenatal health care and genetic counseling/testing in immigrant Latinas.

As the Latino population of the United States continues to increase, the specific needs of Latinos in genetic counseling continue to be unmet. Using culturally tailored genetic counseling responsive to the needs of the patient can assist in building rapport in genetic counseling sessions. We aimed to investigate the relationship between acculturation, prenatal care, genetic testing experiences, and expectations for prenatal care in an immigrant Latino population. A total of 20 Spanish-speaking, pregnant Latinas from various Latin American countries were interviewed after completing a prenatal genetic counseling session. The semi-structured phone interview included questions about the participants' experiences with genetic counseling/testing, prenatal health care in their home country, their current prenatal care in the United States, and information they felt to be important to know during their pregnancy. Although this study showed no statistically significant associations between acculturation, prenatal care, and genetic counseling/testing experiences, six significant content domains were identified as relevant to the participants. Overall, we found that immigrant Latinas desire to know prenatal risk information to help them prepare, relieve guilt, and help make screening/testing/family planning decisions. These Latinas reported the genetic counselor provided confidence, a sense of autonomy, and empowerment, for them to make their own decisions regarding prenatal screening/testing. The participants also spoke about stressors unique to the immigrant population, most notably being away from their older children and other family members. Identifying relevant factors about the lived experience of this population can help genetic counselors better address possible needs, feelings of guilt, and/or isolation and identifying women who could benefit from group-based prenatal care, support groups, or referrals to social work.

Introduction of cell-free DNA screening is associated with changes in prenatal genetic counseling indications.

The introduction of cell-free DNA screening, or non-invasive prenatal testing (NIPT), for chromosome abnormalities has greatly impacted prenatal care since its introduction in late 2011. We aimed to evaluate the association between the introduction of cell-free DNA screening and indication and referral patterns for genetic counseling at a large US academic medical center by comparing the percentage of each counseling indication between the time period prior to the introduction of cell-free DNA screening (2006-2011) and following its introduction (2012-2016) using multivariable Poisson regression models. Genetic counseling indications for positive carrier screens, average risk patients, abnormal ultrasound findings, and family history indications were significantly higher following the introduction of NIPT while advanced maternal age and abnormal maternal serum screening indications dropped significantly. We also showed that the uptake of amniocentesis dropped significantly after the introduction of cell-free DNA screening, while chorionic villus sampling uptake increased. These results provide evidence that the introduction of new genetic screening technologies is associated with a shift in genetic counseling referral indications and an increased uptake in genetic screening. Additional research is needed to explore the impact of expanded testing options on the need for genetic counseling services.

Survival of Texas infants born with trisomies 21, 18, and 13.

Trisomies 21, 18, and 13 are the three most common trisomies among infants who survive to 20 weeks gestation or more. Overall information about birth prevalence, natural history, and mortality for all three trisomies is well defined, but information about ethnic-specific rates is limited. Only a few studies have examined mortality rates of trisomies 18 and 13 because so few cases are liveborn and most have very short life spans. This study assessed ethnic-specific population-based survival probabilities among infants for each trisomy. All cases of trisomies 21, 18, and 13 born in Texas between 1999 and 2003 were obtained from the Texas Birth Defects Registry and included 2,260 cases of trisomy 21, 398 cases of trisomy 18, and 213 cases of trisomy 13. Date and cause of death were obtained from the Texas vital statistics records and the National Death Index. Overall, birth prevalence rates (per 10,000 adjusted live births) for the three trisomies were 11.74 (95% CI: 11.25-12.25), 1.34 (95% CI: 1.18-1.52), 0.92 (95% CI: 0.79-1.07), respectively, and are consistent with previously reported rates. There were no differences in survival rates by ethnicity and the median survival for each trisomy was consistent with previous reports. The results of this study provide comprehensive population-based information for survival of infants with trisomies 21, 18, and 13.

Fetal trisomy 21 and the risk of preeclampsia.

OBJECTIVE: Microchimerism has been investigated as a possible contributor to the pathophysiology of preeclampsia. Although trisomy 21 is associated with pronounced microchimerism, it has not been connected with an increased risk of preeclampsia. Our objective was to readdress the relationship between preeclampsia and trisomy 21 in a large population. METHODS: Using the Texas Birth Defects Registry for 1999-2003, a cohort of 2995 pregnancies with a trisomy 21 fetus was identified and compared with a control cohort of 1959 pregnancies with fetal isolated oral clefts. Chi-square test was used to estimate the significance of observed difference in the proportion of preeclampsia between groups. The interactive and confounding effects of covariates were examined by stratified analysis and the Mantel-Haenszel method. RESULTS: We observed 84 cases of preeclampsia in the trisomy 21 cohort (3.7%) and 111 cases in the oral cleft cohort (5.7%). The crude OR for having preeclampsia in relation to trisomy 21 was 0.63 (95% CI 0.47-0.85). The OR estimates remained the same after adjustment for confounders. CONCLUSION: Pregnancies carrying a trisomy 21 fetus do not have an increased risk of preeclampsia. Besides epidemiologic significance, our data also have relevance for genetic counseling.