The records of 239 infants born to 228 women dependent on narcotic drugs were reviewed to determine if type of drug abused and adequacy of prenatal care would affect pregnancy and fetal outcome. Seventy-nine (33%) pregnancies occurred in women in supervised methadone maintenance, 78 (32%) in women on unsupervised methadone maintenance, 49 (21%) in women on street heroin, and 33 (14%) in women who were multiple drug users. Although the presence of withdrawal symptoms did not differ with respect to type of drug abused, the outcome was significantly better in those infants born to women on supervised methadone maintenance as compared to all other groups (p less than 0.001). There was no demonstrable relationship between the number of prenatal visits to the clinic and fetal outcome. A relationship could not be demonstrated between the maintenance dose during pregnancy and the presence of withdrawal symptoms in the infants born to women on supervised methadone maintenance. The findings of the study suggest that supervised methadone maintenance is compatible with an uneventful pregnancy and delivery. Neonatal complications, with the exception of withdrawal, do not appear to differ from that seen among infants born to nondrug dependent women.

BackgroundFragile X syndrome (FXS) is the most common inherited form of intellectual disability. Many providers offer preconception or prenatal FXS carrier screening. However, guidelines recommend screening only for those with a family history or undergoing fertility evaluation. Wider screening has been resisted because of concerns about patient understanding of FXS‐associated inheritance patterns and phenotypes. Additionally, the clinical utility has been questioned.MethodsWe addressed these concerns by analyzing reproductive decision‐making and pregnancy management informed by post‐test genetic consultation among 122 FMR1 premutation carriers identified by expanded carrier screening.ResultsSixty‐three percent of those screened met guidelines screening criteria; the remaining 37% did not. Ninety‐eight percent had undergone post‐test genetic consultation. Of respondents screened preconceptionally, 74% reported planning or pursuing actions to reduce the risk of an affected pregnancy; the extent to which couples planned/pursued these actions was not significantly different between those meeting either screening criterion (76%) versus those meeting neither criterion (55%). Of respondents screened prenatally, 41% pursued prenatal diagnostic testing; the extent to which couples pursued prenatal diagnosis was not significantly different between those who met either screening criterion (37%) versus those who met neither criterion (31%).ConclusionThese results support the expansion of FXS screening criteria in guidelines.

Invasive fetal testing is indicated for pregnancies at elevated risk of genetic abnormalities; however, the optimal testing strategy is unknown. SMFM recommends chromosomal microarray (CMA) in cases where fetal anomalies are identified. Otherwise, the choice between CMA and karyotype is unclear. The option of a rapidly resulting test such as FISH is omitted from guidelines. We hypothesize that a FISH-based reflex testing strategy with FISH followed by karyotype for abnormal FISH results and CMA for normal FISH results will yield shorter time to results and lower cost to the patient and health system. STUDY DESIGN: We conducted a retrospective cohort analysis from a single health system over 2 years to compare the result wait time and determine cost per patient for different testing strategies. Two strategies were used during this interval: a guideline-based strategy with the option of FISH based on clinical scenario and a FISHbased reflex strategy. Actionable results were defined as either an abnormal FISH result or CMA/karyotype result if normal FISH. Diagnostic results were defined as the final diagnostic test result. Descriptive statistics were used to compare demographic characteristics between the two strategies. Outcomes were compared using the t-test. Cost analysis was performed using 2018 costs as billed to insurers. RESULTS: Eighty-six patients were included in this study with 36 in the reflex strategy and 50 in the guideline strategy. Demographic characteristics between testing strategies were similar, including maternal age and indication for testing. Actionable results were reported sooner for the reflex-based strategy (9.5 AE 8.5 vs 10.5 AE 4.9 days, p ¼ 0.48). Diagnostic results were reported sooner for the guideline-based strategy (10.7 AE 4.9 vs 12.4 AE 6.7 days, p ¼ 0.21). Additionally, the costs per patient were significantly less for the guideline-based strategy ($1637 vs $2134, p ¼ 0.02). CONCLUSION: A prenatal diagnostic testing strategy based on SMFM guidelines is associated with lower costs. The time to actionable and diagnostic results was similar between a guideline-based and reflexbased strategy; however, the shorter actionable result time noted in a reflex-based strategy may be clinically significant if testing is performed in time-sensitive scenarios. These results advocate for inclusion of recommendations regarding FISH testing in future SMFM guidelines.

INTRODUCTION: Expanded carrier screening (ECS) facilitates reproductive and pregnancy management, such as in vitro fertilization (IVF) with preimplantation genetic testing (PGT) and prenatal diagnosis. Here, we describe the impact of ECS results on planned and actual pregnancy management in the largest sample of at-risk couples (ARCs) studied to date. METHODS: Couples who elected ECS and were found to be at high risk of having a pregnancy (ARCs) affected by at least one of 176 genetic conditions were invited to complete a survey about the impact of ECS results on planned and actual pregnancy management. RESULTS: 391 ARCs completed the survey. 77% of ARCs who received results before they were pregnant reported that they altered or were planning to alter pregnancy management to reduce the risk of an affected pregnancy, including IVF with PGD, use of donated gametes, adoption, avoidance of pregnancy altogether, and prenatal diagnosis if/when they became pregnant. 37% of ARCs who received results while they were pregnant elected to undergo prenatal diagnosis. Approximately one-third of pregnancies were found to be affected, and 42% of affected pregnancies were terminated. Among all ARCs, 166 pregnancies occurred subsequent to receiving ECS results; 35% of these pregnancies were achieved through IVF with PGT. Prenatal diagnosis was pursued in approximately 30% of pregnancies, with 29% of these pregnancies found to be affected and 75% of affected pregnancies terminated. CONCLUSION: ECS results impacted couples' reproductive decision-making and led to altered pregnancy management that reduced the risk of an affected pregnancy.