Prenatal Screening Tests Research Articles

Ethical considerations in the treatment of chronic psychosis in a periviable pregnancy

Background: Treatment of psychotic disorders in pregnancy is often ethically and clinically challenging, especially when psychotic symptoms impair decision-making capacity. There are several competing ethical obligations to consider: the ethical obligation to maternal autonomy, the maternal and fetal beneficence-based obligations to treat peripartum psychosis, and the fetal beneficence-based obligation to minimize teratogenic exposure. Objective: This article outlines an ethical framework for clinical decision-making for the management of chronic psychosis in pregnancy, with an emphasis on special considerations in the previable and periviable period. Case Presentation: A 31-year-old gravida 2, para 1 with intrauterine pregnancy at 12 weeks and 4 days gestation was brought to the emergency department by her husband seven months after delivering her first child, due to sudden onset of behavioral changes that included self-isolation, not eating, and not taking care of her child. Her past medical history included hypothyroidism and inflammatory bowel disease, but no prior psychiatric illness. After being admitted to the psychiatric hospital, she continued to have poor oral intake and weight loss despite initial inpatient treatment with antipsychotics, levothyroxine, and discontinuation of corticosteroids. Her pregnancy was also complicated by the diagnosis of multiple fetal anomalies at 20 weeks gestation, when the fetus was periviable. Conclusions: For previable or periviable pregnancies, the patient and/or surrogate should decide whether to pursue prenatal genetic screening and invasive diagnostic testing, as well as whether to continue or terminate the pregnancy. When the choice is made to continue the pregnancy, initiation of long-term psychiatric treatment (including medications with potential adverse fetal effects) should be based on shared decision-making between the physician and the patient and/or surrogate. Although some pharmacologic interventions may have potential adverse effects on the developing fetus, the use of psychotropic medications can be ethically justified, even if the patient herself does not have the capacity to consent and requires a surrogate, when the goal is to restore maternal autonomy and minimize the risks of maternal and fetal harm from untreated psychiatric illness.

Genome-Wide Cell-Free DNA Screening: A Focus on Copy-Number Variants

(Abstracted from Genet Med 2021;23:1847–1853) In 2015, a study found that traditional cell-free DNA (cfDNA) screening had the capability to detect approximately 70% to 80% of the karyotypic abnormalities identified in fetuses and infants. The remaining 20% to 30% that are missed include clinically relevant findings such as subchromosomal deletions and duplications, rare autosomal aneuploidies, and polyploidy, representing an area of growth for prenatal screening tests, and genome-wide cfDNA screening is now available.

Izmir Province First and Second Trimester Prenatal Screening Test Current Median Values

Amaç: Bu çalışmada, laboratuvarımızda yapılan prenatal tarama testlerinin güncel medyan değerlerinin hesaplanması ve risk hesaplamada kullandığımız paket programdaki medyan değerler ile karşılaştırılması hedeflenmiştir.
 Gereç ve Yöntem: Mayıs 2019-Mayıs 2020 tarihleri arasında İzmir ili ve çevresinden hastanemize yapılan başvurular sonucu 3264 birinci trimester tarama testi, 954 ikinci trimester tarama testi retrospektif olarak incelendi. Tüm parametreler İzmir Katip Çelebi Üniversitesi Atatürk Eğitim Araştırma Hastanesi Tıbbi Biyokimya Laboratuvarı’nda maternal serumdan çalışıldı. Elde edilen verilerin gebelik haftalarına göre güncel medyan değerleri ve medyan katları hesaplandı. Prisca paket programındaki medyan değerler ile istatistiksel olarak karşılaştırıldı.
 Bulgular: Güncel medyan değerlerinin; tüm haftalarda birinci trimester tarama testinde kullanılan free β-hCG için düşük, PAPP-A için yüksek olduğu, ikinci trimester tarama testinde kullanılan total β-hCG için 19. hafta dışında düşük olduğu görüldü (p

RHD exon 5, 7 and 10 targeted non-invasive prenatal screening of fetal Rhesus-D (RhD) in selected RhD negative pregnant women in Ethiopia.

BackgroundA majority of non-invasive prenatal screening studies determining fetal RhD status have been tested on Caucasian and Asian populations, but limited or no studies have been conducted on the Ethiopian population. In the current study, we carried non-invasive prenatal screening of fetal RHD genotype in selected RhD negative Ethiopian pregnant women.MethodsCell-free DNA was extracted from the plasma samples of 117 RhD pregnant women between 9 and 38 weeks of gestation. Fetal RHD genotypes were detected by targeting exons 5, 7 and 10 of the RHD gene by using real-time PCR assay. RHD genotypic results were confirmed by neonatal cord blood serology.ResultsFetal RHD genotyping was conclusive in all 117 subjects. RHD genotype was correctly predicted in 115 of 117 cases, thus the test yielded 98.3% accuracy (95%CI: 97.3–99.1%). Among 115 cases, 105 were genotyped as RHD positive and 12 were genotyped as RHD negative. The sensitivity and specificity of the test were 99.1% (95% CI: 94.8–99.9%) and 91.7% (95%CI: 61.5–99.7%) respectively. The negative and positive predictive values were 99.9% (95%CI: 99.2–99.9%) and 54.0% (95% CI: 15.2–88.4%) respectively. SRY genotyping results were in complete concordance with fetal sex.ConclusionMulti exon targeted non-invasive prenatal screening test for fetal RhD determination exhibited high accuracy and sensitivity. A confirmatory study with a bigger size of study subjects is warranted before enabling clinical implementation.

Adding creatinine to routine pregnancy tests: a decision tree for calculating the cost of identifying patients with CKD in pregnancy.

Even in its early stages, chronic kidney disease (CKD) is associated with adverse pregnancy outcomes. The current guidelines for pregnancy management suggest identifying risk factors for adverse outcomes but do not mention kidney diseases. Since CKD is often asymptomatic, pregnancy offers a valuable opportunity for diagnosis. The present analysis attempts to quantify the cost of adding serum creatinine to prenatal screening and monitoring tests. The decision tree we built takes several screening scenarios (before, during and after pregnancy) into consideration, following the hypothesis that while 1:750 pregnant women are affected by stage 4-5 CKD and 1:375 by stage 3B, only 50% of CKD cases are known. Prevalence of abortions/miscarriages was calculated at 30%; compliance with tests was hypothesized at 50% pre- and post-pregnancy and 90% during pregnancy (30% for miscarriages); the cost of serum creatinine (production cost) was set at 0.20 euros. A downloadable calculator, which makes it possible to adapt these figures to other settings, is available. The cost per detected CKD case ranged from 111 euros (one test during pregnancy, diagnostic yield 64.8%) to 281.90 euros (one test per trimester, plus one post-pregnancy or miscarriage, diagnostic yield 87.7%). The best policy is identified as one test pre-, one during and one post-pregnancy (191.80 euros, diagnostic yield 89.4%). This study suggests the feasibility of early CKD diagnosis in pregnancy by adding serum creatinine to routinely performed prenatal tests and offers cost estimates for further discussion.

EP463: Inconclusive Duchenne Muscular Dystrophy (DMD) carrier screening and atypical SNP-based NIPS sex chromosomes analysis suggest maternal sex chromosome abnormality

As of 2021, ACMG has expanded the recommended carrier screening panel to constitute 113 genes, now including the X-linked Duchenne Muscular Dystrophy (DMD) gene. Copy number variant (CNV) analysis by next-generation sequencing (NGS) of DMD yields inconclusive results for a small number of individuals due to the duplication/deletion of all DMD exons and adjacent regions on the X chromosome. In addition, a small number of SNP-based noninvasive prenatal screening (NIPS) tests yield no results for sex chromosomes due to a suspected maternal X chromosome abnormality.

Factors related to use of prenatal screening tests at Hanoi Obstetrics and Gynecology Hospital in 2021

Purpose: To examine the rate of use of prenatal screening tests and the factors related to the use of prenatal screening tests in pregnant women at Hanoi Obstetrics and Gynecology Hospital. Participants and methods: A cross-sectional descriptive study was performed on 350 pregnant women who came for prenatal screening at Hanoi Obstetrics and Gynecology Hospital. Results: 62% of pregnant women performed fetal ultrasound; 59.1% used Double test. 20.6% and 28.6% of pregnant women performed Triple test and NIPT. Only 25.4% of pregnant women used prenatal screening test according to the correct gestational age. The results indicated that the factors related to the use of the prenatal screening test included age, academic level, times of pregnance, previous results of screening tests, counseling. Specifically, the participants in the age group older than 30 years old, with a university degree or higher using the prenatal screening tests were higher at 5.26 times and 3.08 times compared to younger and lower educated participants. The participants with the second time or more of pregnance, risks from previous test results and counseled for prenatal screening tests using prenatal screening tests were 3.80 times, 3.22 times and 2.57 times compared to the participants with the first pregnancy, the previous normal test results, and without prenatal screening test counseling. Conclusion: These findings suggested that nurses and health care providers who are responsible for pregnant women should pay more attention to strengthen health education, timely counseling to raise awareness of pregnant women, especially in the group of pregnant women over 30 years old, with low education level, abnormal previous test results about the importance of prenatal screening tests, to help pregnant women make the right decisions to take the right prenatal screening tests in protecting the health of both mother and fetus.

Prenatal Diagnosis Preferences of Turkish Women and the Association of their Choices with Temperament

Objectives: The purpose of this study is to explain which choices Turkish women prefer for prenatal diagnosis more frequently and to find out if there is any association between temperament and decisions through the prenatal diagnostic steps or consistency of decision. Materials and methods: This is a cross-sectional study on pregnant women who admitted to our outpatient clinic based on the responses to a self-administered questionnaire at the time of combined test or triple test as the first prenatal screening test. 198 pregnant completed selfadministered questionnaires comprising 131 questions including Temperament Evaluation of Memphis, Pisa, Paris and San Diego questionnaire (TEMPS-A). Results: Overall, 88.4% of women were willing to learn if there was an anomaly, whereas 4.5% did not; 7.5% were uncertain. Of the included patients, 87.9% would decide on the screening tests to be performed, 23.2% had a positive attitude on diagnostic tests, and only 13.1% were in favour of termination. No association was found between the temperament scores and positive, negative and indecisive attitudes of the patients. In addition, there was no relation between being decisive and indecisive, and the temperament scores except for cyclothymic scores. Indecisive attitude to termination was associated with higher cyclothymic scores (5 (1– 13) for decisive patients, 7 (0–17 for indecisive patients, p=0.035). Conclusions: We found that affective temperaments measured by the TEMPS-A are not related with the attitudes about prenatal screening or diagnostic tests or termination. Indecisive attitude to termination was associated with higher cyclothymic scores.

Psychological health associated with prenatal screening in low‐risk pregnancy for chromosomal aneuploidy

The aim of this study was to assess the psychological health associated with prenatal screening in low-risk pregnancy for chromosomal aneuploidy. This longitudinal study was performed on 310 low-risk pregnancies for chromosomal aneuploidies. Using the standard DASS-21 questionnaire, levels of stress, anxiety, and depression were assessed-prior to the recommended time for the first-trimester screening test (T1), after the first-trimester tests on the second referral (T2) concurrently with the request for the second-trimester tests (T3)-and compared between women undergoing the prenatal screening and in women refusing it. The results showed that the mean of stress, anxiety, and depression levels were not different between groups at T1; but the level of the stress, depression, and anxiety were higher in the screening group than the non-screening group. The effect of group on changes in the stress, depression, and anxiety levels was significant. The results revealed that the prenatal screening program in low-risk pregnancies for chromosomal aneuploidy can be followed by rising psychological symptoms and this psychological burden should be conceded on prenatal screening tests for pregnant women.

Retrospective analysis of direct antiglobulin test positivity at tertiary academic hospital over 10 years

BackgroundHemolytic disease of the fetus and newborn (HDFN) is a clinically significant problem that may potentially affect any pregnancy. Direct antiglobulin test (DAT) is considered to be an important test in identifying newborns who are suspected to have HDN. This study aims in reviewing data regarding a positive DAT result concerning etiology and the development of HDN over a period of 10 years. Study design and methodsA retrospective study of all neonates with a positive DAT result between January 2011 and December 2020 was performed. Data were obtained from patients' electronic hospital files, transfusion medicine databases, and medical birth records. Laboratory parameters along with clinical interventions in neonates with a DAT-positive result and a comparison group of DAT-negative neonates were performed. Results36,000 deliveries were registered in this period. 176 (2.65 %) neonates had a positive DAT result. ABO-incompatibility was the most common cause with 59.1 %; Rh incompatibility 13.8 %, minor blood group incompatibility, and other RBC-related antibodies 10.1 %, and unspecified etiology in 17 % of cases. Among DAT-positive cases, 32.7 % of neonates were diagnosed with HDN. ABO-incompatibility was the major reason as well. Initial mean total bilirubin levels were higher in the DAT-positive group than the control group (p < 0.001), and these neonates also had a lower initial hemoglobin level (p < 0.001). The need for therapeutic interventions was significantly higher in DAT-positive neonates (p < 0.001) as 86.8 % underwent phototherapy, with 32.7 %, and 17.6 % receiving exchange transfusion (ET) and intravenous immunoglobulin (IVIG), respectively. ConclusionIn conclusion, ABO incompatibility was the most common cause for neonatal DAT positivity. Besides the common causes of DAT positivity, there would be rare but important conditions that may lead to a positive result, such as antibodies passively acquired from mothers in the context of alloimmunizations or using drugs. In addition, as a high rate of therapeutic intervention was identified among neonates with a DAT-positive result, there is a crucial need for increasing awareness regarding early diagnosis of the condition, careful monitoring, and the employment of prenatal alloimmunization screening tests.

The impact of prenatal screening tests on prenatal diagnosis in Taiwan from 2006 to 2019: a regional cohort study

BackgroundThe purpose of this study is to evaluate the impact of prenatal screening tests on prenatal diagnosis in Taiwan’s 14 years from 2006 to 2019.MethodsThe prenatal screening methods evolved from the second-trimester serum screening to combined first-trimester screening (cFTS) and then followed by the non-invasive cell-free DNA prenatal test (NIPT). The data used by the Department of Statistics, the Ministry of Health and Welfare and Department of Household Registration, Ministry of the Interior public website.ResultsThis regional registry-based cohort retrospective study examined a total of 2,775,792 births from January 2006 to December 2019. The proportion of advanced maternal age (AMA) pregnancies increased from 11.63% in 2006 to 30.94% in 2019. Overall, invasive diagnostic testing was used in 87.22% of AMA pregnancies. The prenatal detection rate of trisomy 21 and 18 increased from 74.1% and 83.3% in 2006 to 96.9% and 98.8% in 2019, respectively.ConclusionDuring the second-trimester and cFTS periods, the percentage of AMA pregnancies increased every year and the number of invasive procedures also accompany with increased percentage of AMA. However, during the period that NIPT were implemented, the percentage of invasive procedures decreased.

Non-invasive Prenatal Testing for Fetal Whole Genome Sequencing: An Interpretive Critical Review of the Ethical, Legal, Social, and Policy Implications

Introduction: Non-invasive prenatal testing (NIPT) allows for genetic testing of a fetus through the analysis of cell-free DNA from the mother’s plasma. NIPT is easy and safe for the fetus, since it only requires a blood draw from the mother and therefore holds no risk of miscarriage. It is considered superior to other prenatal screening tests and can also be performed earlier in the pregnancy. NIPT has the future potential for fetal whole genome sequencing (FWGS) for an expanded range of conditions, such as late onset genetic conditions and carrier status. Objective: To review ethical, legal, social, and policy implications of the potential use of non-invasive prenatal testing for FWGS. Methods: This study is a critical interpretive literature review exploring and reporting ethical, legal, social, and policy implications of potential future implementation of NIPT for FWGS, which will be referred to as non-invasive prenatal whole genome sequencing (NIPW). Database and reference list searching was conducted between 2010 and 2019 for terms related to “non-invasive prenatal testing” AND “fetal whole genome sequencing” and derivatives. Results: Following screening, 32 articles were included. Data were grouped into four thematic categories: 1) ethical implications for the future child concerning autonomy and harms, as well as for prospective parents involving autonomy, informed consent concerns, and harms; 2) legal implications including privacy concerns; 3) social implications including changes in family dynamics, altered societal perceptions and disability concerns, justice and equity in accessing the test, and social pressure to use the test; and 4) policy implications including cost and funding concerns, limiting the scope of testing, as well as counseling, education, and support. Discussion: The discussion of results highlights several ethical, legal, social, and policy implications of NIPT use for FWGS. These findings have implications on NIPT implementation for FWGS including how the autonomy of the future child should be balanced with the autonomy of prospective parents, the scope of conditions that should or should not be tested for – and covered or not covered by the healthcare system – and the regulation of FWGS introduction, among others. Further research needs to be performed to address these concerns and hence guide the discussion about the clinical implementation of FWGS through NIPT.

Prenatal Genetic Screening and Diagnostic Testing: Assessing Patients' Knowledge, Clinical Experiences, and Utilized Resources in Comparison to Provider's Perceptions.

Objective This survey study aimed to assess patient knowledge, clinical resources, and utilized resources about genetic screening and diagnostic testing. Study Design A one-time anonymous paper survey was distributed to 500 patients at a major urban obstetrics and gynecology department, and an online survey was sent to 229 providers. Descriptive statistics and chi-squared analyses were performed. Results In all, 466 of 500 patient surveys were completed, and 441 analyzed (88.2% response rate). Among providers, 66 of 229 (29.0% response rate) responded. Patients were on average 32 years old, 27 weeks pregnant, and most often reported a graduate degree level of education (47.4%). Over 75% of patients reported accurate knowledge of basic genetic statements. Patients reported that discussing screening and diagnostic testing with their provider was significantly associated with properly defining screening and diagnostic testing ( p < 0.001). Less than 10% of patients reported providers distributing web/video links, books, or any other resource; however, patients most often independently accessed web links (40.1%). Conclusion Our findings suggest a positive impact from patient and provider discussions in office on patient knowledge and understanding. Discrepancies between educational resources distributed in the clinic and individually accessed resources highlight possible areas of change. Future work should evaluate and implement differing resources to increase patient knowledge.

Effect of Shared Decision-making on Decisional Conflict and Uptake of First-trimester Screening Tests

Introduction: Several factors influence women’s decision to take First Trimester Screening (FTS) tests. These factors are associated with the ambivalence of women toward undergoing screening tests. Objective: This study aimed to investigate the effect of Shared Decision-Making (SDM) about undergoing FTS on Decisional Conflict (DC) immediately after consultation and uptake of FTS. Materials and Methods: This quasi-experimental study was conducted on 200 pregnant women (100 women in the intervention and 100 in the control groups) referred to health centers for prenatal care in 2019. They were selected by the block randomization sampling method. The control group received the routine care and the intervention group, in addition to routine care, attended a 90-min long consultation session based on SDM. The women were contacted via phone at 14 weeks of pregnancy to collect data on their undertaking prenatal screening tests. The demographic characteristics form and O’Conner’s decisional conflict scale were filled out immediately after the consultation session for the intervention group. The obtained data were analyzed by the Chi-square, Fisher exact-test, Mann-Whitney U, and linear regression tests. The P value less than 0.05 was considered statistically significant. Results: There was no significant difference between the two groups regarding women’s demographic characteristics, except for education level, job, and insurance coverage. The Mean±SD DC score was significantly lower in the intervention group (7.35±8.55) compared to the control group (27.32±13.81) (95%CI; 16.80-24.19, P=0.001). In addition, there was a significant difference between the two groups in terms of undergoing the offered FTS (P=0.04). The DC scores ≥25 were associated with a decreased chance of undergoing FTS (P=0.02). Women were less likely to undergo FTS when they were self-employed (OR=0.15, 95%CI; 0.03-0.71, P=0.01). Conclusion: The SDM consultation can help women experience significantly lower levels of DC. Furthermore, factors such as self-employment can prevent women from undergoing FTS despite lower levels of DC.

Assessment of Medicalization of Pregnancy and Childbirth in Low-risk Pregnancies: A Cross-sectional Study.

ABSTRACTBackground: Medicalization may lead to over-testing during pregnancy and increased cesarean section (CS). This study investigated the medicalization of low-risk pregnancies and childbirths in Rasht, Iran.Methods: In this cross-sectional study, 337 postpartum women completed a demographic questionnaire and the Medicalized Pregnancy and Childbirth checklist. In this study, medicalization indicators were the source of providing prenatal care, prenatal screening for aneuploidy, number of received care, hospitalization before the onset of labor, intrapartum drug use, and CS. Demographic data were reported using descriptive statistics. Chi-square or Fisher’s exact and Man-Whitney tests were used for comparison purposes. Logistic regression was run to determine the medicalization indicators associated with the mode of childbirth.Results: Of the participants, 82.2% received prenatal care from obstetricians, 85.8% had undergone prenatal screening tests. There was a significant difference between the median number of ultrasound examinations (P=0.006), prenatal screening for aneuploidy (P=0.002), and multivitamin/mineral supplements use (P<0.001), according to the source of providing prenatal care. Of the participants, 67.1% had CS. Women who received prenatal care from obstetricians had about 2.3 times more odds of CS (OR=2.23, P=0.019). Furthermore, with the increased number of ultrasounds, the odds of CS augmented by 25% (OR=1.25, P=0.013). Finally, 26.4% of the participants were hospitalized before the onset of labor; the intervention increased the odds of CS more than twice (OR=2.08, P=0.026).Conclusion: The study showed a picture of medicalization in low-risk pregnancies. Of the medicalization indicators, the source of providing prenatal care, time of admission, and use of ultrasounds were associated with CS. Midwife-led care could diminish medicalization.

Clinical experience with non-invasive prenatal screening for single-gene disorders.

ABSTRACTObjectiveTo assess the performance of a non‐invasive prenatal screening test (NIPT) for a panel of dominant single‐gene disorders (SGD) with a combined population incidence of 1 in 600.MethodsCell‐free fetal DNA isolated from maternal plasma samples accessioned from 14 April 2017 to 27 November 2019 was analyzed by next‐generation sequencing, targeting 30 genes, to look for pathogenic or likely pathogenic variants implicated in 25 dominant conditions. The conditions included Noonan spectrum disorders, skeletal disorders, craniosynostosis syndromes, Cornelia de Lange syndrome, Alagille syndrome, tuberous sclerosis, epileptic encephalopathy, SYNGAP1‐related intellectual disability, CHARGE syndrome, Sotos syndrome and Rett syndrome. NIPT‐SGD was made available as a clinical service to women with a singleton pregnancy at ≥ 9 weeks' gestation, with testing on maternal and paternal genomic DNA to assist in interpretation. A minimum of 4.5% fetal fraction was required for test interpretation. Variants identified in the mother were deemed inconclusive with respect to fetal carrier status. Confirmatory prenatal or postnatal diagnostic testing was recommended for all screen‐positive patients and follow‐up information was requested. The screen‐positive rates with respect to the clinical indication for testing were evaluated.ResultsA NIPT‐SGD result was available for 2208 women, of which 125 (5.7%) were positive. Elevated test‐positive rates were observed for referrals with a family history of a disorder on the panel (20/132 (15.2%)) or a primary indication of fetal long‐bone abnormality (60/178 (33.7%)), fetal craniofacial abnormality (6/21 (28.6%)), fetal lymphatic abnormality (20/150 (13.3%)) or major fetal cardiac defect (4/31 (12.9%)). For paternal age ≥ 40 years as a sole risk factor, the test‐positive rate was 2/912 (0.2%). Of the 125 positive cases, follow‐up information was available for 67 (53.6%), with none classified as false‐positive. No false‐negative cases were identified.ConclusionsNIPT can assist in the early detection of a set of SGD, particularly when either abnormal ultrasound findings or a family history is present. Additional clinical studies are needed to evaluate the optimal design of the gene panel, define target populations and assess patient acceptability. NIPT‐SGD offers a safe and early prenatal screening option. © 2021 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.

The appropriate counseling on prenatal screening test for foreign women in Emilia-Romagna.

The increase in the migratory phenomenon entails the need to adapt obstetric care to the population which includes foreign pregnant women. In this context, it emerged a little adherence to the prenatal screening test among foreign women compared to Italian women, which is assumed to be attributable to an inadequate counseling. This study aims to evaluate midwife's perception of thecounseling effectiveness in foreign women for the combined test and subsequently assess its adequacy through an external evaluation. this is a cross-sectional study conducted from September to November 2019. An ad hoc questionnaire was administered to midwives working in the territorial district of the Emilia-Romagna Region, investigating their counseling skills. Then an external evaluation of the counseling was conducted by observing the interview between the midwives and the patients (N = 10), to analyze its appropriateness. Seventy-five midwives completed the questionnaire with a positive response rate of 57.2%. In general, 69.3% of midwives are satisfied with the training received from the regional course, but 85% found many difficulties in counseling foreign women. The 14% of midwives state that they always have the cultural and linguistic mediator available and 44% of them state that they use brochures translated into several foreign languages. In the interviews observed, the counseling to foreign women was found to be shorter and more limited than that provided to Italian women. Most of the consulting midwives declare that they feel prepared to perform a correct prenatal counseling also for foreign women, but the external evaluation of the interviews, and the regional data on adherence to the antenatal screening of foreign women, show many critical points. It becomes necessary to carry out further studies that investigate not only the counseling skills of midwives, but also the needs of assisted women about prenatal diagnosis.

How COVID-19 pandemic is changing the practice of prenatal screening and diagnosis?

To evaluate the impact of the COVID-19 pandemic on prenatal screening and diagnostic tests. We conducted a retrospective study with pregnant women attending to the perinatology department of a tertiary referral center. The pre-COVID-19 period between 11 March 2019 and 10 March 2020 and COVID-19 period between 11 March 2020 and 10 March 2021 were evaluated. Both periods were compared in terms of outpatient visits, ultrasound examinations, prenatal screening and diagnostic tests. The correlation of deaths related to COVID-19 pandemic on these parameters was also assessed. A total of 38,918 patients were examined and 28,452 ultrasound examinations, 26,672 prenatal screening tests and 1,471 prenatal diagnostic tests were performed over two years. During COVID-19 pandemic, number of outpatient visits decreased by 25.2%, ultrasound examinations decreased by 44.2%, prenatal screening tests decreased by 36.2% and prenatal diagnostic tests decreased by 30.7%. Statistically significant correlation was not observed between deaths related to COVID-19 and outpatient visits (p=0.210), ultrasound examinations (p=0.265), prenatal screening (p=0.781) and diagnostic tests (p=0.158). Among indications of prenatal diagnostic tests, maternal anxiety was significantly higher in COVID-19 period (p=0.023). There was significant decrease in the detection of fetuses with trisomy 21 (p=0.047) and a significant increase in the detection of fetuses with Turner syndrome (p=0.017) during COVID-19 period. The COVID-19 pandemic has severely impacted antenatal care. Prenatal fetal screening and diagnosis was adversely affected by the pandemic in terms of detecting genetic and structural anomalies.

Significance of Low Maternal Serum Β-hCG Levels in the Assessment of the Risk of Atypical Chromosomal Abnormalities

Introduction: The introduction of prenatal cell-free DNA as a screening test has surpassed traditional combined first-trimester screening (cFTS) in the detection of common trisomies. However, its current limitation in detecting only common trisomies is affecting the diagnostic yield for other clinically significant chromosomal abnormalities. Methods: In efforts to optimize the detection of fetuses with genetic abnormalities, we have analyzed the relationship between the cFTS risk score and biomarkers with atypical chromosomal abnormalities. Furthermore, we have evaluated the impact of prenatal cell-free DNA screening on the detection of chromosomal abnormalities in our population. For these purposes, we performed a retrospective study of 877 singleton pregnancies who underwent chromosomal microarray analysis (CMA) between 2013 and 2020 and for whom cFTS data were available. Results: The results demonstrated that low levels of free beta-human chorionic gonadotropin (β-hCG) (≤0.37 multiples of the median) and increased fetal nuchal translucency (NT) (≥3.5 mm) were statistically associated with the presence of atypical chromosomal abnormalities. In fact, the risk of pathogenic CMA results increased from 6 to 10% when fetal NT was increased and from 6 to 20% when a low serum β-hCG level was detected in the high-risk cFTS group. Moreover, our results showed that altered serum levels of β-hCG can have a substantial impact on the early detection of clinically relevant copy number variants. Discussion/Conclusion: Traditional cFTS can potentially identify a substantial proportion of atypical chromosomal aberrations, and women with increased NT or low maternal serum β-hCG levels are at increased risk of having pathogenic CMA results. Our results may help clinicians and women decide whether invasive testing or prenatal cell-free DNA screening testing is more appropriate for each situation.

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.