Routine Prenatal Testing Research Articles

Prenatal risk assessment of Xp21.1 duplication involving the DMD gene by optical genome mapping.

Structural variants (SVs) of unknown significance are great challenges for prenatal risk assessment, especially when involving dose-sensitive genes such as DMD The pathogenicities of 5'-terminal DMD duplications in the database remain controversial. Four prenatal cases with Xp21.1 duplications were identified by routine prenatal genomic testing, encompassing the 5'-UTR to exons 1-2 in family 1 and family 2, and to exons 1-9 in family 3. The duplication in family 4 was non-contiguous covering the 5'-UTR to exon 1 and exons 3-7. All were traced to unaffected males in the family pedigrees. A new genome-wide approach of optical genome mapping was performed in families 1, 2, and 3 to delineate the breakpoints and orientation of the duplicated fragments. The extra copies were tandemly inserted into the upstream of DMD, preserving the integrity of ORF from the second copy. The pathogenicities were thus reclassified as likely benign. Our data highlight the importance of structural delineation by optical genome mapping in prenatal risk assessment of incidentally identified SVs involving DMD and other similar large dose-sensitive genes.

Seroprevalence of hepatitis B virus and hepatitis C virus infection among pregnant women attending antenatal care at Guhala Primary Hospital, Northwestern Ethiopia

BackgroundHepatitis B virus (HBV) and Hepatitis C Virus (HCV) infections are global issues that disproportionately affect developing countries. Pregnancy-related HBV and HCV infections are associated with a high risk of vertical transmission and complications for the mother as well as the newborn. Therefore, this study aims to determine the seroprevalence of hepatitis B virus and hepatitis C virus infection among pregnant women attending antenatal care at Guhala Primary Hospital, Northwestern Ethiopia.MethodsA hospital-based retrospective study was conducted from July to September 2022 on HBV and HCV registered books from September 1, 2017, to August 30, 2019, for a year. The presence of HBsAg and anti-HCV in serum was detected using the One Step Cassette Style HBsAg and anti-HCV antibody test kit. Data were analyzed using SPSS version 26 software.ResultsIn this study, a total of 2252 participants for HBsAg and 538 participants for ant-HCV rapid tests of records in the laboratory logbook were included. The mean age of the study participants was 25.6years (± 5.8SD). The overall prevalence of HBsAg and anti-HCV was 6.0% (134/2252) and 2.4% (13/538), respectively. There were 0.4% (2/538) coinfection results between HBV and HCV among pregnant women.Conclusion and recommendationIn this study, intermediate seroprevalence of HBV and HCV infection was detected among pregnant women attending antenatal care. The Hepatitis B virus was predominantly higher among pregnant women aged between 25 and 34 years. To manage and stop the potential vertical transmission of these viral agents during the early stages of pregnancy, routine prenatal testing for HBV and HCV infections should be taken into consideration.

Prenatal Evaluation of a Fetal Cystic Hygroma: An Unexpected Finding of a De Novo Fetal BRCA1 Deletion Case Report

This case presents a novel occurrence of a de novo BRCA1 gene deletion in a fetus with a cystic hygroma. Chorionic villus sampling (CVS) was performed for chromosome G-banding analysis, demonstrating a normal karyotype: 46, XX. Chromosome microarray analysis performed as a reflex test revealed an 80 kb deletion on 17q21.31, encompassing the BRCA1 gene. Follow-up FISH analysis performed on parental blood samples yielded negative results, confirming that the deletion was de novo in the fetus. Subsequent anatomic ultrasound evaluation showed no identifiable structural defects, and it was concluded that the microdeletion was unlikely to be the cause of the cystic hygroma. Regardless, it will be imperative that the patient’s daughter be appropriately counseled regarding the implications of carrying a BRCA1 deletion and the need for heightened surveillance in adulthood. As BRCA1 genetic testing is traditionally performed on adult patients with informed consent, this case report highlights the need for ongoing conversations and research in the management of incidental fetal diagnosis discovered during routine prenatal testing, as well as the care and counseling of these patients and their families.

Investigation into the genetics of fetal congenital lymphatic anomalies.

Congenital lymphatic anomalies (LAs) arise due to defects in lymphatic development and often present in utero as pleural effusion, chylothorax, nuchal and soft tissue edema, ascites, or hydrops. Many LAs are caused by single nucleotide variants, which are not detected on routine prenatal testing. Demographic data were compared between two subcohorts, those with clinically significant fetal edema (CSFE) and isolated fetal edema. A targeted variant analysis of LA genes was performed using American College of Medical Genetics criteria on whole exome sequencing (WES) data generated for 71 fetal edema cases who remained undiagnosed after standard workup. CSFE cases had poor outcomes, including preterm delivery, demise, and maternal preeclampsia. Pathogenic and likely pathogenic variants were identified in 7% (5/71) of cases, including variants in RASopathy genes, RASA1, SOS1, PTPN11, and a novel PIEZO1 variant. Variants of uncertain significance (VOUS) were identified in 45% (32/71) of cases. In CSFEs, VOUS were found in CELSR1, EPHB4, TIE1, PIEZO1, ITGA9, RASopathy genes, SOS1, SOS2, and RAF1. WES identified pathogenic and likely pathogenic variants and VOUS in LA genes in 51% of fetal edema cases, supporting WES and expanded hydrops panels in cases of idiopathic fetal hydrops and fluid collections.

Changes in prenatal testing during the COVID-19 pandemic.

The coronavirus disease 2019 (COVID-19) pandemic disrupted healthcare delivery, including prenatal care. The study objective was to assess if timing of routine prenatal testing changed during the COVID-19 pandemic. Retrospective observational cohort study using claims data from a regional insurer (Highmark) and electronic health record data from two academic health systems (Penn Medicine and Yale New Haven) to compare prenatal testing timing in the pre-pandemic (03/10/2018-12/31/2018 and 03/10/2019-12/31/2019) and early COVID-19 pandemic (03/10/2020-12/31/2020) periods. Primary outcomes were second trimester fetal anatomy ultrasounds and gestational diabetes (GDM) testing. A secondary analysis examined first trimester ultrasounds. The three datasets included 31,474 pregnant patients. Mean gestational age for second trimester anatomy ultrasounds increased from the pre-pandemic to COVID-19 period (Highmark 19.4 vs. 19.6 weeks; Penn: 20.1 vs. 20.4 weeks; Yale: 18.8 vs. 19.2 weeks, all p < 0.001). There was a detectable decrease in the proportion of patients who completed the anatomy survey <20 weeks' gestation across datasets, which did not persist at <23 weeks' gestation. There were no consistent changes in timing of GDM screening. There were significant reductions in the proportion of patients with first trimester ultrasounds in the academic institutions (Penn: 57.7% vs. 40.6% and Yale: 78.7% vs. 65.5%, both p < 0.001) but not Highmark. Findings were similar with multivariable adjustment. While some prenatal testing happened later in pregnancy during the pandemic, pregnant patients continued to receive appropriately timed testing. Despite disruptions in care delivery, prenatal screening remained a priority for patients and providers during the COVID-19 pandemic.

Genome-Wide Copy Number Variant and High-Throughput Transcriptomics Analyses of Placental Tissues Underscore Persisting Child Susceptibility in At-Risk Pregnancies Cleared in Standard Genetic Testing.

Several studies have shown that children from pregnancies with estimated first-trimester risk based on fetal nuchal translucency thickness and abnormal maternal serum pregnancy protein and hormone levels maintain a higher likelihood of adverse outcomes, even if initial testing for known genetic conditions is negative. We used the Finnish InTraUterine cohort (ITU), which is a comprehensively characterized perinatal cohort consisting of 943 mothers and their babies followed throughout pregnancy and 18 months postnatally, including mothers shortlisted for prenatal genetic testing but cleared for major aneuploidies (cases: n = 544, 57.7%) and control pregnancies (n = 399, 42.3%). Using genome-wide genotyping and RNA sequencing of first-trimester and term placental tissue, combined with medical information from registry data and maternal self-report data, we investigated potential negative medical outcomes and genetic susceptibility to disease and their correlates in placenta gene expression. Case mothers did not present with higher levels of depression, perceived stress, or anxiety during pregnancy. Case children were significantly diagnosed more often with congenital malformations of the circulatory system (4.12 (95% CI [1.22–13.93]) higher hazard) and presented with significantly more copy number duplications as compared to controls (burden analysis, based on all copy number variants (CNVs) with at most 10% frequency, 823 called duplications in 297 cases versus 626 called duplications in 277 controls, p = 0.01). Fifteen genes showed differential gene expression (FDR < 0.1) in association with congenital malformations in first-trimester but not term placenta. These were significantly enriched for genes associated with placental dysfunction. In spite of normal routine follow-up prenatal testing results in early pregnancy, case children presented with an increased likelihood of negative outcomes, which should prompt vigilance in follow-up during pregnancy and after birth.

Prevalence of syphilis coinfection in hepatitis C virus positive prenatal patients from Alberta during a pilot routine screening program.

BACKGROUND: Alberta routinely screens pregnant patients for select communicable diseases. Hepatitis C virus (HCV) was added to the prenatal screening panel as part of a provincial pilot program in February 2020. This retrospective cross-sectional study aimed to characterize the prevalence of syphilis coinfections in prenatal patients infected with HCV following implementation of the pilot program.METHODS: Routine prenatal HCV and syphilis testing data were extracted from the Public Health Laboratory Information System over a 21-month period. HCV positivity was defined as HCV enzyme immunoassay (EIA) reactive with detected HCV ribonucleic acid (RNA) following molecular confirmation, and positive results were examined for syphilis coinfections. All patients reactive on a syphilis EIA and confirmatory Treponema pallidum particle agglutination (TPPA) or follow-up rapid plasma reagin (RPR) test were considered positive for syphilis. Descriptive statistics for coinfected patients were analyzed. RESULTS: Eighty-seven prenatal patients were identified to be positive for HCV. Of those, 19 (21.8%) were reactive on the syphilis EIA and 17 (19.5%) had confirmed infections with the TPPA or RPR tests. For HCV/syphilis coinfected patients, the majority resided in metropolitan regions (64.6%), were from the lowest income quintile neighbourhoods (47.1%) and had previously tested positive for HCV (82.4%) and syphilis (64.6%) at the public health laboratory. CONCLUSIONS: The prevalence of syphilis coinfections in prenatal patients infected with HCV is high in Alberta. HCV/syphilis coinfection prevalence should be further investigated in other jurisdictions and prenatal cohorts to better understand testing and treatment options for prevention of congenital transmission.

Implementation of Exome Sequencing in Prenatal Diagnosis and Impact on Genetic Counseling: The Polish Experience.

Background: Despite advances in routine prenatal cytogenetic testing, most anomalous fetuses remain without a genetic diagnosis. Exome sequencing (ES) is a molecular technique that identifies sequence variants across protein-coding regions and is now increasingly used in clinical practice. Fetal phenotypes differ from postnatal and, therefore, prenatal ES interpretation requires a large amount of data deriving from prenatal testing. The aim of our study was to present initial results of the implementation of ES to prenatal diagnosis in Polish patients and to discuss its possible clinical impact on genetic counseling. Methods: In this study we performed a retrospective review of all fetal samples referred to our laboratory for ES from cooperating centers between January 2017 and June 2021. Results: During the study period 122 fetuses were subjected to ES at our institution. There were 52 abnormal ES results: 31 in the group of fetuses with a single organ system anomaly and 21 in the group of fetuses with multisystem anomalies. The difference between groups was not statistically significant. There were 57 different pathogenic or likely pathogenic variants reported in 33 different genes. The most common were missense variants. In 17 cases the molecular diagnosis had an actual clinical impact on subsequent pregnancies or other family members. Conclusions: Exome sequencing increases the detection rate in fetuses with structural anomalies and improves genetic counseling for both the affected couple and their relatives.

The Prevalence of Gestational Diabetes Mellitus in Pregnant Women Referred to Amir al-Mu'minin Hospital of Gerash City, Fars Province, Iran

Background and Aims: The increasing number of pregnant women being diagnosed as having gestational diabetes mellitus (GDM) and lead health care providers to develop reliable screening protocols and know the exact worldwide epidemiology of the disease. This study seeks to obtain data that will help to improve the epidemiologic knowledge about this disease. Materials and Methods: This cross-sectional study was performed on 953 pregnant women seeking routine prenatal screening tests. Participants participate with using Carpenter-Coustan criteria in the study. Statistical analysis was performed using SPSS software. Results and Conclusions: Among 953 pregnant women , 38 participants (4%) were detected to have GDM . Fifty percent of patients in the study were overweight .The data showed a significant difference in the mean age between the diabetic and non-diabetic groups. The high prevalence of GDM in young Iranian pregnant women may emphasize the need for early diagnosis and treatment to avoid adverse outcomes associated with GDM.

Medicaid Cost and Reimbursement for Low-Risk Prenatal Care in the United States.

We calculate the financial margins for delivery of routine antenatal care as reimbursed by Medicaid. Prenatal care cost varies with overhead, health care provider type, and number of office visits. Antenatal care is only one component of the global maternity bundle, which also includes intrapartum and postpartum care. Time for provision of low-risk antenatal care was determined prospectively from a study of 133 low-risk pregnant patients. Health care provider time cost was estimated using mean wages for obstetricians and midwives. Margins were estimated by subtracting cost of provider services and overhead for the antenatal component of maternity care from total Medicaid reimbursement for the pregnancy global package (CPT 59400) using 2015 dollars. The maternity bundle elements of routine prenatal laboratory tests, ultrasounds, intrapartum care, and postpartum care were not included in our analysis of cost components. Patients received an average of 215 minutes of direct provider time per pregnancy. At the 50th percentile for physician payment and assuming overhead is 53.4% of revenue, practice margins varied by state from -$1067 to +$675, with a median of -$357. Median margins for midwifery care were +$15, with a range of -$579 to +$885. Margins were negative if overhead costs exceeded 33% of revenue for physician care and 55% of revenue for midwifery care. In many states, Medicaid reimbursement for the global maternity package is less than the actual cost of antenatal care alone. Improving reimbursement or decreasing costs is necessary to make maternity care more cost-effective.

Perspectives of women on screening and prevention of CMV in pregnancy

ObjectiveTo assess the choice and attitude of pregnant women regarding CMV serological screening and CMV prevention behaviors in pregnancy. Study designIn this cross-sectional study, pregnant women were recruited in a single center during routine prenatal screening tests at 11–16 weeks. Participants filled out a questionnaire assessing knowledge about congenital CMV (cCMV) infection, risk perception and willingness to have CMV serological screening as well as their attitude toward CMV prevention behaviors. ResultsAmong 234 pregnant women, 74.4 % (95 % confidence interval: 68.8–80.0 %) wanted CMV serological screening in pregnancy. The factors significantly associated with the desire for screening were perceived risk and perceived severity of cCMV. An informed choice regarding CMV screening (value-consistent, based on good knowledge and deliberated) was performed by 54 % of women who chose the screening and 30 % of women who declined the screening (p = 0.039). The median scores regarding attitudes toward CMV prevention behaviors were 3.7/5 for avoiding sharing behaviors and 4.0/5 for not kissing a child on the lips. ConclusionThe majority of pregnant women want to have CMV serological screening once informed about congenital CMV infection. New tools need to be developed to allow for informed choice regarding CMV serological screening in pregnancy.

Is routine prenatal screening and testing fundamentally incompatible with a commitment to reproductive choice? Learning from the historical context

An enduring ethical dispute accompanies prenatal screening and testing (PST) technologies. This ethical debate focuses on notions of reproductive choice. On one side of the dispute are those who have supported PST as a way to empower women’s reproductive choice, while on the other side are those who argue that PST, particularly when made a routine part of prenatal care, limits deliberate choice. Empirical research does not resolve this ethical debate with evidence both of women for whom PST enhances their choices but also persistent evidence of recurrent problems between PST and women’s autonomous decision-making. While there have been attempts to remove challenges to reproductive choice, it has been argued that these challenges cannot be removed entirely. In this paper I provide a historical review of PST technologies’ development and in doing so provide a detailed insight into the root causes of this tension between the opposing sides of this debate. This historical account provides evidence that those who championed the early use of these technologies did so in order to achieve a number of wholly different goals other than women’s choice and empowerment. These different aims focus on scientific discovery and eugenic goals and, I argue, are irreconcilable with women’s choice and empowerment. It thus may not be surprising that the resulting practice of PST continues to resist compatibility with women’s choice and empowerment. Ultimately, by understanding the historical foundations of PST we can more effectively assess how to reconcile women’s reproductive autonomy with routine prenatal screening.

What Is the Prevalence of Measles Immunity among Pregnant Women?

This study aimed to estimate the prevalence of measles immunity in a cohort of pregnant women in New York City and determine if there is a positive correlation of measles immunity with patient demographics, rubella immunity, number of measles, mumps, and rubella vaccine (MMR) doses received, and age at last vaccination. This is a cross-sectional study of pregnant patients seen at a single institution from January 2019 to May 2019. Patients were classified as measles and rubella immune or nonimmune using commercial immunoglobulin G (IgG) tests. Patient characteristics were compared using t-tests, Chi-square tests, or Fisher's exact tests as appropriate. The association of age at last vaccination with immunity status was assessed using multivariable logistic regression adjusted for age at presentation. The utility of rubella IgG for distinguishing measles immunity was assessed using receiver operating characteristic curve analysis. Serologic immunity for measles and rubella was obtained for 1,366 patients. Of these, 1,047 (77%) were measles immune and 1,291 (95%) were rubella immune. Patients born after 1989 were less likely to be immune to measles, while multiparity and private insurance were associated with increased measles immunity. Documentation of MMR vaccination was available for 140 (10%) patients. Of these, 44 (31%) were serologically nonimmune to measles and 9 (6.4%) were nonimmune to rubella. In patients known to have received one dose of MMR, 62% (24/39) were immune to measles with an improvement to 72% (69/96) among those who received two or more doses. Age at last vaccination was not associated with measles immunity. Rubella IgG level was a poor predictor of positive measles titer (area under the curve = 0.59). Approximately one of every four pregnant patients is serologically measles nonimmune, even among women with documented MMR vaccination or documented rubella immunity. These findings raise concerns that relying on vaccination history or rubella immune status may not be sufficient to assure protection from infection with measles. If further suggests that measles serology should be added to routine prenatal laboratory testing to identify nonimmune patients that may benefit from postpartum vaccination. · Approximately one of every four pregnant patients were serologically measles nonimmune.. · Rubella immunoglobulin G was a poor predictor of measles immunity status.. · Measles serology should be added to routine prenatal laboratory testing..

Trichomonas vaginalis in Pregnancy: Patterns and Predictors of Testing, Infection, and Treatment.

To identify factors associated with testing for and diagnosis of trichomoniasis in pregnancy and to describe patterns of treatment and tests of reinfection or persistence. We conducted a retrospective cohort study of women who delivered from July 2016 to June 2018 at one institution. Testing for Trichomonas vaginalis infection was done by wet mount microscopy or by nucleic acid amplification testing for routine prenatal testing or symptomatic visits. Poisson regression was used to identify factors associated with testing for trichomoniasis and testing positive in pregnancy. Treatment and re-testing patterns also were assessed. Among 3,265 pregnant women, 2,489 (76%) were tested for T vaginalis infection. Of the total sample, 1,808 (55%) were tested by wet mount microscopy, 1,661 (51%) by nucleic acid amplification testing, and 980 (30%) by both modalities. The sensitivity for microscopy compared with nucleic acid amplification testing was 26%, with a specificity of 99%. Factors associated with increased likelihood of being tested included younger age (adjusted risk ratio [aRR] 0.99, 95% CI 0.99-1.00) and bacterial vaginosis (aRR 1.17, 95% CI 1.01-1.37). Prevalence of trichomoniasis was 15% among those tested by any modality (wet mount or nucleic acid amplification testing). Risk factors for trichomoniasis included younger age (aRR 0.97, P<.01), being of black race (aRR 2.62, P<.01), abnormal vaginal discharge (aRR 1.45, P<.01), and chlamydia during the current pregnancy (aRR 1.70, P<.01). Women diagnosed by microscopy had a shorter time to treatment compared with those diagnosed by nucleic acid amplification testing. Most (75%) women with positive infections had a test of reinfection; 29% of these were positive. Bacterial vaginosis was associated with decreased risk of a positive test of reinfection. Although testing for and treatment of trichomoniasis during pregnancy is not routinely recommended, the high burden of infection among some pregnant women demonstrates a need to further understand patterns of T vaginalis testing and infection. Opportunities exist for improving timely treatment of trichomoniasis and test of reinfection.

Is fetal isolated double renal collecting system an indication for chromosomal microarray?

Introduction: Duplication of the renal collecting system is one of the most common variants of urinary tract anatomy. The objective of our study was to examine the risk for chromosomal aberrations in this isolated prenatal sonographic finding.Methods: Data from all chromosomal microarray analyses (CMA) reported to the Ministry of Health between January 2013 and September 2017 were retrospectively obtained from a computerized database. All pregnancies with a sonographic diagnosis of the isolated duplex renal collecting system and documentation of CMA result were included. Rate of abnormal CMA findings was compared to the general population risk, based on a systematic review encompassing 9272 cases with normal ultrasound and a local data of 5541 pregnancies undergoing CMA due to maternal request.Results: Two pathogenic CMA finding was found amongst 143 pregnancies with double collecting system (1.4%), not significantly different from the risk for abnormal CMA results in the general population. In addition, five variants of unknown significance were demonstrated (3.5%).Conclusion: To our best knowledge, this analysis is the first report describing the rate of chromosomal anomalies in pregnancies with isolated duplex renal collecting system. Its results suggest that routine invasive prenatal testing with CMA analysis in such cases is no more useful than in the general population. Prospective well-adjusted studies are needed to guide the optimal management of these pregnancies.

700: Diagnostic accuracy of Abbott ARCHITECT Syphilis TP chemiluminescent immunoassay in pregnant women

An alternative to a traditional syphilis diagnostic algorithm, the reverse sequence algorithm (treponemal antibody with reflex to rapid plasma reagin (RPR)) utilizes a screening test such as Abbott ARCHITECT Syphilis TP chemiluminescent immunoassay (CIA) to provide objective, rather than subjective, results. We evaluated the diagnostic accuracy of the CIA screen in pregnant women compared to the traditional RPR prior to clinical implementation of the reverse algorithm at our hospital. Prospectively collected blood samples from routine prenatal RPR tests were collected and frozen. Samples were batch-tested with treponemal-specific CIA (index test). Women with reactive (positive) RPR had particle agglutination assay (TPPA, gold standard) available for analysis; for RPR-/CIA+ samples, TPPA was performed. We calculated sensitivity, specificity, predictive value, and false positive rate of the CIA test in pregnant women and evaluated perinatal outcomes of women with reactive CIA. Of 1,605 specimens, 35(2.1%) were RPR+, including 24(69%) CIA+/TPPA+ and 11(31%) CIA-/TPPA- (false positive RPR) (Figure 1). Of 1,570 RPR- specimens, 14(0.9%) were CIA+, including 13(93%) confirmed TPPA+, and 1(7%) TPPA- (false positive CIA). Diagnostic performance of the CIA (with 95% CI) was: sensitivity 100%(90.5-100%), specificity 99.9%(99.6 -100%), positive predictive value 97.4% (86.2-99.9%), and false positive rate 0.06%(0.002-0.4%)(Table 1). Among 37 CIA+/TPPA+ women, 11(30%) had previously treated syphilis, 19(51%) had active infection, and 7(19%) had RPR- status which did not require treatment or investigation by the local health department. There was no difference in age, parity, or race/ethnicity among women with RPR+/CIA+/TPPA+ versus RPR-/CIA+/TPPA+ results. One stillbirth occurred in a woman with early, active RPR+/CIA+/TPPA+ syphilis identified at delivery; no adverse perinatal outcomes occurred among women with RPR-/CIA+/TPPA+ results. Compared with the traditional RPR screening test, the treponemal-specific CIA accurately diagnoses current or past syphilis in pregnancy. While women with RPR+/CIA+/TPPA+ and RPR-/CIA+/TPPA+ results had similar demographic characteristics, the clinical significance of RPR-nonreactive status in pregnancy is unclear: adverse perinatal outcomes were limited to women with untreated, RPR+/CIA+/TPPA+ results in our study.View Large Image Figure ViewerDownload Hi-res image Download (PPT)

Suscetibilidade antimicrobiana de Streptococcus agalactiae isolados de gestantes em um hospital materno infantil de Porto Alegre, Rio Grande do Sul

AIMS: To characterize the antimicrobial susceptibility profile of Streptococcus agalactiae isolated from pregnant women attended at a public hospital.METHODS: The study was carried out in a public maternal and child hospital in Porto Alegre, RS, Brazil, in which the screening for S. agalactiae in pregnant women is part of the obstetrics routine. The study was carried out on anal/vaginal swab tests performed from July 2015 to February 2016. Bacterial isolates were identified by phenotypic tests, and the susceptibility to ampicillin, clindamycin, erythromycin and ofloxacin was determined. The erythromycin resistance genes ermB and mefA were also investigated.RESULTS: A total of 294 samples were included, and of these, 26 (8%) were positive for S. agalactiae. All isolates were susceptible to ampicillin, and resistance to erythromycin (21.4%), clindamycin (14.3%) and ofloxacin (7.1%) were observed. The mefA genotype was observed in 66% of the erythromycin resistant isolates.CONCLUSIONS: Results of this study corroborate the consensus that in pregnant women colonized with S. agalactiae, intrapartum antibiotic prophylaxis with penicillin G or ampicillin is indicated. The relevant proportion of isolates resistant to erythromycin and clindamycin, indicated for intrapartum antibiotic prophylaxis in case of allergy to beta-lactam antibiotics, emphasizes the importance of determining the profile of antimicrobial susceptibility of these isolates, a measure that is not yet part of routine prenatal tests in many institutions.

Congenital Chagas Disease in the United States: Cost Savings through Maternal Screening.

.Chagas disease, caused by Trypanosoma cruzi, is transmitted by insect vectors through transfusions, transplants, insect feces in food, and from mother to child during gestation. Congenital infection could perpetuate Chagas disease indefinitely, even in countries without vector transmission. An estimated 30% of infected persons will develop lifelong, potentially fatal, cardiac or digestive complications. Treatment of infants with benznidazole is highly efficacious in eliminating infection. This work evaluates the costs of maternal screening and infant testing and treatment of Chagas disease in the United States. We constructed a decision-analytic model to find the lower cost option, comparing costs of testing and treatment, as needed, for mothers and infants with the lifetime societal costs without testing and the consequent morbidity and mortality due to lack of treatment or late treatment. We found that maternal screening, infant testing, and treatment of Chagas disease in the United States are cost saving for all rates of congenital transmission greater than 0.001% and all levels of maternal prevalence above 0.06% compared with no screening program. Newly approved diagnostics make universal screening cost saving with maternal prevalence as low as 0.008%. The present value of lifetime societal savings due to screening and treatment is about $634 million saved for every birth year cohort. The benefits of universal screening for T. cruzi as part of routine prenatal testing far outweigh the program costs for all U.S. births.

Cytogenetic analysis in fetuses with late onset abnormal sonographic findings.

To determine the rate of chromosomal cytogenetic abnormalities in fetuses with late onset abnormal sonographic findings. Retrospective cohort of women who underwent amniocentesis at or beyond 23 weeks of gestation, for fetal karyotype and chromosomal microarray analysis, indicated due to late onset abnormal sonographic findings. All 103 fetuses had a normal karyotype. Ninety-five women also had chromosomal microarray analysis (CMA) performed. The detection rate of abnormal CMA (5/95, 5.3%) was similar to that of women who underwent amniocentesis due to abnormal early onset ultrasound findings detected at routine prenatal screening tests during the first or early second trimester (7.3%, P=0.46) and significantly higher than that for women who underwent amniocentesis and CMA upon request, without a medical indication for CMA (0.99%, P<0.0001). Late onset sonographic findings are an indication for amniocentesis, and if performed, CMA should be applied to evaluate fetuses with late onset abnormal sonographic findings.

OP08.01: Cytogenetic analysis in fetuses with late onset abnormal sonographic findings

We studied the rate of chromosomal cytogenetic abnormalities of fetuses with abnormal sonographic findings detected in the late second or third trimester. Retrospective analysis of all women at or beyond 23 gestational weeks at a single medical centre, who underwent amniocentesis during January 2012 to December 2015, indicated for abnormal sonographic findings that first appeared and were diagnosed at late second or third trimester. Primary endpoints were the results of fetal karyotype and chromosomal microarray analysis (CMA). 102 women with 103 fetuses underwent amniocentesis due to late onset abnormal sonographic findings. All fetuses had a normal karyotype. Ninety-five women also had CMA performed. The detection rate of abnormal CMA (5/95, 5.3%) was similar to that of women who underwent amniocentesis due to abnormal early onset ultrasound findings detected at routine prenatal screening tests during the 1st or early 2nd trimester (7.3%, p=.46) and significantly higher than that for women who performed amniocentesis and CMA upon request, without having any fetal abnormal sonographic findings or medical indication for CMA (0.99%, p<.0001). Late onset sonographic findings are an indication for amniocentesis. We suggest that if amniocentesis is performed, CMA should be applied to evaluate fetuses with late onset abnormal sonographic findings.