Prenatal Screening Tests Research Articles

The impact of preimplantation genetic testing for aneuploidy on prenatal screening.

To determine whether preimplantation genetic testing for aneuploidy (PGT-A) is associated with a reduced risk of abnormal conventional prenatal screening results in singleton pregnancies conceived using in vitro fertilization (IVF). This was a retrospective cohort study of singleton IVF pregnancies conceived from a single tertiary care center between January 2014 and September 2019. Exclusion criteria included mosaic embryo transfers, vanishing twin pregnancies, and cycles with missing outcome data. Two cases of prenatally diagnosed aneuploidy that resulted in early voluntary terminations were also excluded. The primary outcome of abnormal first or second-trimester combined screening results was compared between two groups: pregnancy conceived after transfer of a euploid embryo by PGT-A vs. transfer of an untested embryo. Multivariable backwards-stepwise logistic regression with Firth method was used to adjust for potential confounders. Of the 419 pregnancies included, 208 (49.6%) were conceived after transfer of a euploid embryo by PGT-A, and 211 (50.4%) were conceived after transfer of an untested embryo. PGT-A was not associated with a lower likelihood of abnormal first-trimester (adjusted OR 1.64, 95% CI 0.82-3.39) or second-trimester screening results (adjusted OR 0.96, 95% CI 0.56-1.64). The incidences of cell-free DNA testing, fetal sonographic abnormalities, genetic counseling, and invasive prenatal diagnostic testing were similar between the two groups. Our data suggest that PGT-A is not associated with a change in the likelihood of abnormal prenatal screening results or utilization of invasive prenatal diagnostic testing. Counseling this patient population regarding the importance of prenatal screening and prenatal diagnostic testing, where appropriate, remains essential.

Trends in Non-invasive Prenatal Screening and Invasive Testing in Denmark (2000-2019) and Israel (2011-2019).

Introduction: Following the wide distribution of non-invasive prenatal genetic screening (NIPS), numerous studies have reported a decline in total invasive tests in the recent years, up to 50–70% in some countries. However, in Denmark and Israel we have not experienced these declines. The objective of our study was to evaluate the trends in NIPS and chromosomal microarray analysis (CMA) use in Denmark and Israel.Methods: This retrospective study was performed by data acquisition from the Danish Cytogenetics Central Registry throughout the years 2000–2019, and Israeli Public Health Services, Ministry of Health computerized database (from 2011).Results: Of the 1,243,956 live births registered in Denmark over the years 2000–2019, a relatively steady level of invasive testing around 6% was noted since 2004, as opposed to 13.0% in Israel based on 1,594,962 live births between 2011 and 2019. The average uptake of NIPS was 1.1 ± 0.5% in Denmark vs. 4.3% in Israel (2013–2019). Relatively steady rates of invasive testing were noted in both countries, compared to a slight decline in NIPS in the recent years.Discussion: The recent decrease in the rates of invasive testing in the NIPS era was not observed in Denmark or in Israel. These results imply that Danish and Israeli women and/or health providers might favor the high resolution and yield of CMA testing over the non-invasiveness of NIPS. We explore and discuss this phenomenon, based on five central factors.

The effect of co-payments on the take-up of prenatal tests

Noninvasive prenatal screening tests help identify genetic disorders in a fetus, but their take-up remains low in several countries. Using a regression discontinuity design, we test the causal effect of a policy that eliminated co-payments for noninvasive screening tests in Italy. We identify the treatment effects by a discontinuity in women's eligibility for a free test based on their conception date. We find that the policy increases the probability of women's undergoing noninvasive screening tests by 5.5 percentage points, and the effect varies by socioeconomic status. We do not find evidence of substitution effects with more expensive and riskier invasive diagnostic tests. In addition, the increase in take-up does not affect pregnancy termination or newborn health. We find some evidence of positive effects on mothers’ health behaviors during pregnancy as measured by reductions in mothers’ weight gain and hospital admissions during pregnancy, but these are statistically significant only at the 10 percent level.

Nanostructures in non-invasive prenatal genetic screening.

Prenatal screening is an important issue during pregnancy to ensure fetal and maternal health, as well as preventing the birth of a defective fetus and further problems such as extra costs for the family and society. The methods for the screening have progressed to non-invasive approaches over the recent years. Limitations of common standard screening tests, including invasive sampling, high risk of abortion and a big delay in result preparation have led to the introduction of new rapid and non-invasive approaches for screening. Non-invasive prenatal screening includes a wide range of procedures, including fetal cell-free DNA analysis, proteome, RNAs and other fetal biomarkers in maternal serum. These biomarkers require less invasive sampling than usual methods such as chorionic villus sampling, amniocentesis or cordocentesis. Advanced strategies including the development of nanobiosensors and the use of special nanoparticles have provided optimization and development of NIPS tests, which leads to more accurate, specific and sensitive screening tests, rapid and more reliable results and low cost, as well. This review discusses the specifications and limitations of current non-invasive prenatal screening tests and introduces a novel collection of detection methods reported studies on nanoparticles' aided detection. It can open a new prospect for further studies and effective investigations in prenatal screening field.

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.

Low fetal fraction in obese women at first trimester cell‐free DNA based prenatal screening is not accompanied by differences in total cell‐free DNA

Reasons for first trimester noninvasive prenatal screening (NIPS) test failure in obese women remain elusive. As dilution from maternal sources may be explanatory, we determined the relationship between obesity, fetal fraction (FF), and total cell-free DNA (cfDNA) using our NIPS platform. We assessed differences in first trimester (≤14weeks) FF, indeterminate rate, and total cfDNA between obese (n=518) and normal-weight women (n=237) after exclusion of confounders (anticoagulation, autoimmunity, aneuploidy) and controlling for covariates. Fetal fraction was lower, and the indeterminate rate higher, in obese compared to controls (9.2%±4.4 vs. 12.5%±4.5, p<0.001 and 8.4 vs. 1.7%, p<0.001, respectively), but total cfDNA was not different (92.0 vs. 82.1 pg/µl, p=0.10). For each week, the FF remained lower in obese women (all p<0.01) but did not increase across the first trimester for either group. Obesity increased the likelihood of indeterminate result (OR 6.1, 95% CI 2.5, 14.8; p<0.001) and maternal body mass index correlated with FF (β -0.27, 95% CI -0.3, -0.22; p<0.001), but not with total cfDNA (β 0.49, 95% CI -0.55, 1.53; p=0.3). First trimester obese women have persistently low FF and higher indeterminate rates, without differences in total cfDNA, suggesting placental-specific mechanisms versus dilution from maternal sources as a potential etiology.

Use of Recombinant Endolysin to Improve Accuracy of Group B Streptococcus Tests.

ABSTRACTGroup B Streptococcus (GBS) causes serious neonatal infection via vertical transmission. The prenatal GBS screening test is performed at the late stage of pregnancy to avoid risks of infection. In this test, enrichment culture is performed, followed by GBS identification. Selective medium is used for the enrichment; however, Enterococcus faecalis, which is a potential contaminant in swab samples, can interfere with the growth of GBS. Such bacterial contamination can lead to false-negative results. Endolysin, a bacteriophage-derived enzyme, degrades peptidoglycan in the bacterial cell wall; it is a promising antimicrobial agent for selectively eliminating specific bacterial genera/species. In this study, we used the recombinant endolysin EG-LYS, which is specific to E. faecalis; the endolysin potentially enriched GBS in the selective culture. First, in the false-negative model (coculture of GBS and E. faecalis, which disabled GBS detection in the subsequent GBS identification test), EG-LYS treatment at 0.1 mg/ml improved GBS detection. Next, we used 548 vaginal swabs to test the efficacy of EG-LYS treatment in improving GBS detection. EG-LYS treatment (0.1 mg/ml) increased the GBS-positive ratio to 17.9%, compared to 15.7% in the control (phosphate-buffered saline [PBS] treatment). In addition, there were an increased number of GBS colonies under EG-LYS treatment in some samples. The results were supported by the microbiota analysis of the enriched cultures. In conclusion, EG-LYS treatment of the enrichment culture potentially improves the accuracy of the prenatal GBS screening test.IMPORTANCE Endolysin is a bacteriophage-derived enzyme that degrades the peptidoglycan in the cell wall of host bacteria; it could be used as an antimicrobial agent for selectively eliminating specific bacterial genera/species. Group B Streptococcus (GBS) causes neonatal infection via vertical transmission; prenatal GBS screening test, in which enrichment culture is followed by bacterial identification, is used to detect the presence of GBS in pregnant women. However, the presence of commensal bacteria such as Enterococcus faecalis in clinical specimens can inhibit GBS growth in the selective enrichment culture, resulting in false-negative result. Here, we demonstrated that the application of originally isolated endolysin in the enrichment culture improved the test accuracy by inhibiting unwanted E. faecalis growth and therefore avoiding false-negative results, not only in experimental settings, but also in tests using vaginal swabs.

Counselling and education for prenatal screening and diagnostic tests for pregnant women: Randomized controlled trial.

The aim of this study is to evaluate the effect of education and counselling on prenatal screening and diagnostic tests on pregnant women's decisional conflict, anxiety levels and attitudes towards the tests. Clinical practice guidelines recommend prenatal genetic counselling for pregnant women before participation in the tests. A total of 210 pregnant women participated in the study by completing the State-Trait Anxiety Inventory-I, Decisional Conflict Scale, SURE Scale, Knowledge Assessment Forms, Decision Satisfaction Form and Attitudes Scale between June 2017 and March 2018. In the first stage, pregnant women were evaluated who had only prenatal genetic screening tests and in the second stage, pregnant women who had been recommended to receive diagnostic tests. The intervention group received face-to-face individual education and counselling about prenatal genetic tests. Independent samples t test, t tests and Pearson correlation tests were used. Education and counselling for prenatal screening tests and diagnostic tests from the first weeks of pregnancy were effective in decreasing anxiety, decisional conflict, increasing attitudes towards tests and had positive effects on pregnant women's knowledge level and decision satisfaction (P < 0.005). Prenatal genetic counselling and education are more effective if provided from the first weeks of pregnancy. Decreasing anxiety, decisional conflict and increasing knowledge levels of pregnant women are important to make informed decisions.

The potential of expanded noninvasive prenatal screening for detection of microdeletion and microduplication syndromes.

To evaluate the clinical potential of a higher resolution noninvasive prenatal screening (NIPS-Plus) test for detection of microdeletion/microduplication syndromes (MMS) in addition to common aneuploidies. In a multicenter prospective study, 37,002 pregnant women with unremarkable first-trimester ultrasound scans had a NIPS-Plus test. Ultrasound screen positive women were not included in this study. Of 36,970 ultrasound negative women there were 291 NIPS-Plus screen positive results indicating 237 aneuploidies and 54 MMS. Following amniocentesis, 171 (72%) were confirmed as genuine, comprising 3 T13s, 10 T18s, 61 T21s, 70 SCAs and 27 MMS. The PPV for MMS with unremarkable ultrasound findings was 50%. Routine clinical examination of children born from NIPS-Plus negative pregnancies revealed no obvious signs of chromosome disease syndromes at one year of age. NIPS-Plus has the potential for clinical utility not only for routine aneuploid screening but also for MMS that do not show overt signs during early pregnancy ultrasound screening. We suggest that ultrasound with NIPS-Plus in combination with appropriate counselling could be considered as a comprehensive first-tier prenatal screening approach for all pregnant women.

Application of intelligent algorithms in Down syndrome screening during second trimester pregnancy.

BACKGROUNDDown syndrome (DS) is one of the most common chromosomal aneuploidy diseases. Prenatal screening and diagnostic tests can aid the early diagnosis, appropriate management of these fetuses, and give parents an informed choice about whether or not to terminate a pregnancy. In recent years, investigations have been conducted to achieve a high detection rate (DR) and reduce the false positive rate (FPR). Hospitals have accumulated large numbers of screened cases. However, artificial intelligence methods are rarely used in the risk assessment of prenatal screening for DS.AIMTo use a support vector machine algorithm, classification and regression tree algorithm, and AdaBoost algorithm in machine learning for modeling and analysis of prenatal DS screening.METHODSThe dataset was from the Center for Prenatal Diagnosis at the First Hospital of Jilin University. We designed and developed intelligent algorithms based on the synthetic minority over-sampling technique (SMOTE)-Tomek and adaptive synthetic sampling over-sampling techniques to preprocess the dataset of prenatal screening information. The machine learning model was then established. Finally, the feasibility of artificial intelligence algorithms in DS screening evaluation is discussed.RESULTSThe database contained 31 DS diagnosed cases, accounting for 0.03% of all patients. The dataset showed a large difference between the numbers of DS affected and non-affected cases. A combination of over-sampling and under-sampling techniques can greatly increase the performance of the algorithm at processing non-balanced datasets. As the number of iterations increases, the combination of the classification and regression tree algorithm and the SMOTE-Tomek over-sampling technique can obtain a high DR while keeping the FPR to a minimum. CONCLUSIONThe support vector machine algorithm and the classification and regression tree algorithm achieved good results on the DS screening dataset. When the T21 risk cutoff value was set to 270, machine learning methods had a higher DR and a lower FPR than statistical methods.

Prenatal screening for Down syndrome: popularity, perceptions and factors associated with acceptance or refusal of testing

Background Prenatal screening tests for aneuploidies have become increasingly used in maternal and fetal medicine. Given that all pregnancies associate a potential risk of Down syndrome, adequate knowledge of the tests, and their characteristics as well as facilitating decision-making autonomy are fundamental rights that must be respected. Objectives Identification of the popularity of the tests, their perception and the factors associated with the acceptance or refusal to perform them. Methods A cross-sectional study was carried out in the South-East region of Romania, between April and September 2016. The data were collected from 275 postpartum women. The instrument used was a self-administered questionnaire and the data obtained were processed using the IBM SPSS 20.0 statistical software (IBM Corp., Armonk, NY, USA). The normality of the distribution was analyzed with Chi-square, Kolmogorov–Smirnov and Shapiro–Wilk tests. Factorial Analysis was carried out for the Principal Components of the scales for the reasons for performing and not performing. Results The 2nd Trimester Morphology had the popularity as well as the highest rate of accomplishment (98.2% respectively 67.6%) among the investigated women. It is also the preferred recommendation of the specialists (81.1%). The least popular test was the TPNI, only 13.1% of the participants heard about it, as it was recommended in only 2% of the situations. Most of the participants perceived the screening tests as essential and useful, but 43.3% considered that they become mandatory if the doctor recommends them. The acceptance of the child with DS and the misperception of the risk were the main factors associated with the refusal of the test and the compliance with the recommendation of the specialist (system confidence), and social influence (non-acceptance of the Down syndrome by the society) were the main factors associated with the acceptance. Conclusions The number of women who made the decision to accept the test was greater than the ones who refused. The amendment is that acceptance was based on the custom of socio-economic-medical compliance and responsibility. For many women, the motivation of acceptance meant alignment with the normality directed by the society and the system. Even the popularity of the tests carries the imprint of the beliefs and values of the system and the specialists involved. For an adequate perception and an autonomous and informed choice of women, the screening program must include adequate information and communication services by involving specialists responsible for multidisciplinary competencies. The percentage of completion and the type of test performed almost perfectly align with the recommendations received.

Current relevance of non-invasive prenatal study of cell-free fetal DNA in the mother’s blood and prospects for its application in mass screening of pregnant women in the Russian Federation

This review article offers an analysis of application of cell-free fetal DNA non-invasive prenatal screening test for chromosome abnormalities in the mothers blood in different countries. The diagnostic capacities of the method, its limitations, execution models and ethical aspects pertinent to its application are discussed. The data for the discordant results is shown and analyzed. The advantages of the genome-wide variant of cell-free fetal DNA analysis and the problems concerning its application in the mass screening are described. The main suggestion is to implement the contingent cell-free fetal DNA testing model for the common trisomies (for the chromosomes 21, 18 and 13) into the prenatal diagnostic screening programs in the Russian Federation. This novel model is based on the results of the mass combined first trimester prenatal screening in four federal subjects of the country completed by 2019 and is offered as an additional screening in the mid-level risk group (with cut-off from 1 : 100 to 1 : 500 or from 1 : 100 to 1 : 1000) defined according to the first trimester prenatal screening results. The basic requirements for the implementation of the contingent model in the Russian Federation are stated.

EP499 - Prenatal genetic screening and diagnostic testing during the COVID-19 pandemic in the Bronx, NY

eP499 - Prenatal genetic screening and diagnostic testing during the COVID-19 pandemic in the Bronx, NY

Retrospective analysis of prenatal invasive diagnostic procedures in a tertiary center

Objective: This study aimed to analyze the indications and outcomes of prenatal invasive diagnostic procedures performed in a single tertiary center.&#x0D; Materials and Methods: The invasive procedure indications and karyotype results of 1666 pregnant women who underwent prenatal invasive procedures between March 2016 and November 2018 were retrospectively analyzed. The indications and results of prenatal invasive diagnostic procedures were recorded.&#x0D; Results: Amniocentesis (AS) was performed to 1060 (63.6%) patients, corion villus sampling (CVS) to 299 (17.9%), and cordocentesis (CS) to 307 (18.4%) patients. Among the prenatal invasive procedure indications, the most frequent indication was abnormal ultrasound (US) findings, with a rate of 48.3% (n= 805). A normal karyotype was detected in 85% (n= 1416) of the cases, and chromosomal abnormality was detected in 12.2% (n= 204) of the cases. Abnormal karyotype results were found in 111 (10.5%) of 1060 patients who underwent AS, 87 (29.1%) of 299 patients who underwent CVS, and 52 (16.9%) of 307 patients who underwent CS. Among the numerical chromosomal abnormalities, trisomy 21 was the most common abnormality with a rate of 46% (94/204), while inversions were the most common abnormality of structural chromosomal abnormalities at 8.8% (18/204).&#x0D; Conclusion: The results of the current study show that AS is the most common prenatal diagnostic invasive procedure. We obtained the highest fetal chromosomal anomaly rate in patients who experienced CVS. Abnormal US findings were the most common prenatal invasive diagnostic procedure indication in our study. Choosing the most appropriate invasive procedure is related to the obstetricians' experience, medical history of the patient, the gestational week at admission, maternal prenatal serum screening test results, and abnormal US findings.

Performance of noninvasive prenatal screening in twin pregnancies: a retrospective study of 5469 twin pregnancies

Objectives To evaluate the performance of noninvasive prenatal screening (NIPS) for the fetal common aneuploidy screening in twin pregnancies. Methods The data of 5469 women with twin pregnancies were collected in this retrospective observational study between January 2017 and December 2018. Patients underwent NIPS as first-line screening or after standard serum screening for fetal aneuploidy. The performance of NIPS was examined, and a regression analysis was performed to investigate testing failure in cases of low fetal fraction. Results In this study, 2231 (40.8%) patients opted for NIPS as the primary prenatal screening test, and 3238 (59.2%) opted for serum screening, including 440 patients who opted for NIPS after serum screening. Among the 2671 pregnancies with available NIPS outcomes, 11 cases of aneuploidy were identified, seven of trisomy 21 and four of sex chromosome aneuploidy (SCA). The sensitivity and specificity for trisomy 21 were 100% (95% CI, 56.1–100.0%) and 100% (95% CI, 99.8–100.0%), respectively. The positive predictive value (PPV) for SCA was 40.0% (95% CI, 13.7–72.6%). No false negatives were found, with a negative predictive value (NPV) of 100% (95% CI, 99.8–100.0%) in total. In 32 pregnancies who failed NIPS test without available NIPS outcomes due to low fetal fraction, the regression analysis demonstrated that increasing BMI and assisted reproductive technology treatment were significant independent predictors. Conclusions NIPS is a high-performing routine primary prenatal screening test in twin pregnancies, with a high PPV and low false positive rate for detecting trisomy 21. It is also useful to identify common sex chromosome aneuploidies in twin pregnancies, with similar performance to that reported in singleton pregnancy.

When Is Non-Invasive Prenatal Testing Reliable in Pregnancies with Vanishing Twin? - A Review of Case Reports

Background: Fetal demise can complicate aneuploidy screening in a multi fetal pregnancy. The cell-free DNA (CF-DNA) from a non-viable conception may lead to be discordant with the viable fetuses. The Aim of study was to review the waiting period, follow-on single fetal demise in a twin gestation before performing NIPT. Materials and Methods: In this review articlewe searched through online database with keywords: ((NIPT) (non-invasive prenatal screening testing) (cell-free DNA) (vanishing twin) (co-twin demise)), including: CINAHL, Cochrane, Database of Abstracts of Reviews of Effects (DARE), PubMed, and Medical Library. For English literature between 2011 and 2020 which included duration between vanishing twin or reduction and NIPT false results. Results: 201 studies across the eight scientific web sites were detected. 178 excluded for duplication or being irrelevant. 29 studies were fully read. 4 case series, met the criteria for systematic review. The finding suggested the NIPT screening test can be falsely-positive several weeks after vanishing twins although live fetus is normal. Therefore, duration in which placenta can release CF-DNA of vanished twin is unknown. In addition, several weeks after reduction the fetal CF-DNA increases and then decreases, thus CF-DNA analyzing in multi-fetal pregnancies with reduction can be challenging as well. Conclusion: In pregnancies with vanishing twin or reduction, evaluating NIPT results is more complex than single fetal pregnancy. According to studies, after a fetal demise, the cytotrophoblast continues to release to the CF-DNA in the maternal circulation for a variable time, which may cause a false-positive result if the demised twin is aneuploidy.

Mentality of pregnant women and obstetric healthcare workers about prenatal SARS-CoV-2 testing: A regional survey over the first wave of the COVID-19 pandemic in Japan.

AimTo clarify the mentality of pregnant women and obstetric healthcare workers about prenatal severe acute respiratory syndrome coronavirus 2 (SARS‐CoV‐2) screening testing.MethodsA multicenter questionnaire survey about prenatal SARS‐CoV‐2 screening testing was conducted among pregnant women, midwives and nurses (M&Ns), and obstetricians at all delivery facilities in Fukui Prefecture between June 30, 2020 and July 22, 2020.ResultsOf 297 pregnant women, 150 (50.5%) underwent prenatal polymerase chain reaction (PCR) testing, and 107 of them (71.3%) answered that because of prenatal PCR tests, they could give birth with relief. One hundred forty‐five (48.8%) were concerned about the disadvantages of receiving positive prenatal PCR results. Of 287 M&Ns, 151 (52.6%) answered that prenatal PCR screening testing could reduce anxiety about infection to themselves; this belief was more common among M&Ns working at the nonreception facility than among those at COVID‐19 reception facilities (60.7% vs. 47.1%, P = 0.02). Of 57 obstetricians, 31 (54.4%) agreed to prenatal SARS‐CoV‐2 PCR screening testing, the rate of which was significantly higher among obstetricians at nonreception facilities than those at reception facilities (70.3% vs. 25.0%, P < 0.01). Fourteen obstetricians (24.6%) were concerned about excessive medical treatment for asymptomatic pregnant women with false‐positive PCR results.ConclusionsPregnant women experience anxieties during the COVID‐19 pandemic, and prenatal SARS‐CoV‐2 screening may reduce their anxiety to some extent. However, obstetrics staff at COVID‐19 reception facilities are aware of the limits of prenatal screening and are concerned about excessive medical intervention due to false‐positive results.

Economic Impact of Coverage Expansion for Non-invasive Prenatal Testing Through a Performance-Based Risk-Sharing Agreement.

BackgroundHarvard Pilgrim Health Care expanded coverage for non-invasive prenatal testing (NIPT) to include all pregnant, single-gestation women aged < 35 years, through a performance-based risk-sharing (PBRS) agreement with Illumina to offset costs from coverage expansion. NIPT analyzes cell-free DNA fragments from a maternal blood sample to screen for fetal aneuploidies and is considered a more accurate screening method than conventional serum biochemical screening and nuchal translucency ultrasound-based approaches.ObjectiveThis study assessed the impact of NIPT coverage expansion on prenatal screening strategies and payer expenditures.MethodsThis was a real-world comparison of utilization and expenditures of prenatal screening and diagnostic testing in pregnant women aged < 35 years pre- (1 March 2016–28 February 2018) and post- (1 March 2018–30 September 2019) coverage expansion. Incidence rate ratios (IRRs) with 95% confidence intervals (CIs) were estimated to compare changes in utilization of conventional and NIPT-based prenatal screening methods. Change in per member per month (PMPM) expenditures in $US year 2020 were assessed post-coverage expansion using a budget impact model.ResultsA total of 5041 and 4109 distinct pregnancies were identified in pre- and post-coverage expansion periods, respectively. Mean ± standard deviation maternal age was consistent between pre- and post-coverage expansion periods (30.35 ± 3.35 and 30.33 ± 3.28, respectively). Screening orders for conventional methods decreased, with an adjusted IRR in the post-expansion period of 0.87 (95% CI 0.85–0.90) times the rate in the pre-expansion period; orders for NIPT increased, with an adjusted IRR in the post-expansion period of 1.41 (95% CI 1.32–1.51) times the rate in the pre-expansion period. Invasive diagnostic testing was low at baseline (1.0%) and did not change post-coverage expansion. The change in PMPM is estimated at $US0.026 post-coverage expansion.ConclusionThe PBRS agreement to expand NIPT coverage for women aged < 35 years was associated with an increase in NIPT utilization, decreases in conventional screening methods, and a modest increase in PMPM expenditures.Supplementary InformationThe online version contains supplementary material available at 10.1007/s41669-021-00261-y.

Maternal health care utilization and the obstetric outcomes of undocumented women in Finland \u2013 a retrospective register-based study

BackgroundUndocumented pregnant women constitute a vulnerable group of people who lack equal access to pregnancy care. Previous research has shown that undocumented migrants encounter difficulties in accessing health services, the onset of prenatal care is delayed, and women have an increased risk for infectious diseases. The aim of this study was to describe the use of maternal health care services and the obstetric outcomes of undocumented women in Helsinki, capital city of Finland, in addition to comparing the results with all pregnant women in Finland.MethodsThe study was a retrospective register-based study consisting of data collected between 2014 to 2018 from the electronic medical records of the public maternity clinic and maternity hospital in Helsinki, Finland. The study population consists of 62 individual pregnancies of undocumented women. The results of the study were compared with national data on parturients and deliveries (N = 47,274 women) and with prenatal screening tests for infectious diseases (N = 51,447 [HIV, HBV], N = 51,446 [syphilis]).ResultsThe majority (91%) of the undocumented women attended public prenatal care. However, four women received no prenatal care and three women were denied access to care. Undocumented women entered prenatal care later and had fewer visits compared with all pregnant women. The majority (71%) of the undocumented women received inadequate prenatal care as the number of visits was less than eight. Of the study population, 5% (3/59) tested positive for HIV, 3% (2/59) for HBV, and 2% (1/57) for syphilis. The prevalence of HIV (p-value < 0.001) and HBV (p-value = 0.007) was significantly higher amongst undocumented women compared with all pregnant women.ConclusionsUndocumented women entered prenatal care later than recommended. Most women received inadequate prenatal care and some of them did not receive prenatal care at all. The prevalence of infectious diseases was significantly higher and the coverage of prenatal screenings deficient amongst undocumented pregnant women.

The impact of the emergence of COVID-19 on women's prenatal genetic testing decisions.

ObjectiveWe conducted a study to examine the impact of COVID on patients' access and utilization of prenatal genetic screens and diagnostic tests at the onset of the COVID‐19 pandemic in the United States.MethodsWe conducted telephone interviews with 40 patients to examine how the pandemic affected prenatal genetic screening and diagnostic testing decisions during the initial months of the pandemic in the United States. An interview guide queried experiences with the ability to access information about prenatal genetic testing options and to utilize the tests when desired. Audio recordings were transcribed and coded using NVivo 12. Analysis was conducted using Grounded Theory.ResultsThe pandemic did not alter most participants' decisions to undergo prenatal genetic testing. Yet, it did impact how participants viewed the risks and benefits of testing and timing of testing. There was heightened anxiety among those who underwent testing, stemming from the risk of viral exposure and the fear of being alone if pregnancy loss or fetal abnormality was identified at the time of an ultrasound‐based procedure.ConclusionThe pandemic may impact patients' access and utilization of prenatal genetic tests. More research is needed to determine how best to meet pregnant patients' decision‐making needs during this time.