Search

Background: This study's aim was to determine whether diminished oocyte reserve (DOR) increases the risk of having a fetus with trisomy 13, 18, or 21 at 10 weeks as evaluated by non-invasive prenatal testing (NIPT) and to evaluate the confounding effect of advanced age. Methods: NIPT was undertaken in all pregnancies conceived through natural treatment or assisted reproductive technology that reached 10 weeks from conception with a viable fetus from one infertility center. Data were stratified according to serum anti-Mullerian hormone (AMH) < 1 ng/mL and ≥1 ng/mL. Results: No woman < 39 or with AMH ≥ 1 ng/mL showed trisomy 13, 18, or 21 by NIPT. Only women ≥ age 39 with DOR had one of these trisomies. Conclusions: Hopefully these data, coupled with other factors, e.g., etiology of infertility, age, insurance, or financial circumstances, and personal views of pregnancy termination, will aid patients with DOR when choosing treatment options, including natural conception, IVF-ET, IVF with pre-implantation genetic testing for aneuploidy, or transfer of fertilized donor eggs. [ABSTRACT FROM AUTHOR]

The Congenital Diaphragmatic Hernia Study Group (CDHSG) is an international consortium of medical centers actively collecting and voluntarily contributing data pertaining to live born congenital diaphragmatic hernia (CDH) patients born and/or managed at their institutions. These data are aggregated to construct a comprehensive registry that participating centers can access to address specific clinical inquiries and track patient outcomes. Since its establishment in 1995, 147 centers have taken part in this initiative, including 53 centers from 17 countries outside the United States, with 95 current active centers across the globe. The registry has amassed data on over 14,000 children, resulting in the creation of over 75 manuscripts based on registry data to date. International, multicenter consortia enable health care professionals managing uncommon, complex, and diverse diseases to formulate evidence-based hypotheses and draw meaningful and generalizable conclusions for clinical inquiries. This review will explore the formation and structure of the CDHSG and its registry, outlining their functions, center participation, and the evolution of data collection. Additionally, we will provide an overview of the evidence generated by the CDHSG, with a particular emphasis on contributions post-2014, and look ahead to the future directions the study group will take in addressing CDH. [ABSTRACT FROM AUTHOR]

More than 290 million people worldwide, and almost 2 million people in the United States, are infected with hepatitis B virus, which can lead to chronic hepatitis B, a vaccine-preventable communicable disease. The prevalence of chronic hepatitis B infection in pregnancy is estimated to be 0.7% to 0.9% in the United States, with >25,000 infants born annually at risk for chronic infection due to perinatal transmission. Given the burden of disease associated with chronic hepatitis B infection, recent national guidance has expanded both the indications for screening for hepatitis B infection and immunity and the indications for vaccination. The purpose of this document is to aid clinicians caring for pregnant patients in screening for hepatitis B infection and immunity status, discuss the perinatal risks of hepatitis B infection in pregnancy, determine whether treatment is indicated for maternal or perinatal indications, and recommend hepatitis B vaccination among susceptible patients. The following are the Society for Maternal-Fetal Medicine recommendations: (1) we recommend triple-panel testing (hepatitis B surface antigen screening, antibody to hepatitis B surface antigen, and total antibody to hepatitis B core antigen) at the initial prenatal visit if not previously documented or known to have been performed (GRADE 1C); (2) we recommend universal hepatitis B surface antigen screening alone at the initial prenatal care visit for all pregnancies where there has been a previously documented negative triple-panel test (GRADE 1B); (3) we recommend that individuals with unknown hepatitis B surface antigen screening status be tested on any presentation for care in pregnancy; we also recommend that those with clinical hepatitis or those with risk factors for acute hepatitis B infection be tested at the time of admission to a birthing facility when delivery is anticipated (GRADE 1B); (4) we do not recommend altering routine intrapartum care in individuals chronically infected with hepatitis B; administration of neonatal immunoprophylaxis is standard of care in these situations (GRADE 1B); (5) we do not recommend cesarean delivery for the sole indication of reducing perinatal hepatitis B virus transmission (GRADE 1B); (6) we recommend that individuals with HBV infection can breastfeed as long as the infant has received immunoprophylaxis at birth (GRADE 1C); (7) we suggest individuals with hepatitis B infection who desire invasive testing may have the procedure performed after an informed discussion on risks and benefits in the context of shared decision-making and in the context of how testing will affect clinical care (GRADE 2C); (8) in individuals with hepatitis viral loads >200,000 IU/mL (>5.3 log 10 IU/mL), we recommend antiretroviral therapy with tenofovir (tenofovir alafenamide at 25 mg daily or tenofovir disoproxil fumarate at 300 mg daily) in the third trimester (initiated at 28–32 weeks of gestation) as an adjunctive strategy to immunoprophylaxis to reduce perinatal transmission (GRADE 1B); (9) we recommend administering hepatitis B vaccine and hepatitis B immunoglobin within 12 hours of birth to all newborns of hepatitis B surface antigen–positive pregnant patients or those with unknown or undocumented hepatitis B surface antigen status, regardless of whether antiviral therapy has been given during the pregnancy to the pregnant patient (GRADE 1B); and (10) we recommend hepatitis B vaccination in pregnancy for all individuals without serologic evidence of immunity or documented history of vaccination (GRADE 1C). [ABSTRACT FROM AUTHOR]

• Families with a prenatal diagnosis are not eligible for early intervention until their baby is born despite other developmental programs starting during pregnancy. • Families appraisals of their formal, intermediate, and informal supports to meet their desire for a positive, hopeful pregnancy and parenting vision varied. • Early Intervention could support families in meeting their prenatal goals that families' currently existing resources do not. In the United States, families whose infants or toddlers have a diagnosis that results in a high likelihood of developmental delay or disability are automatically eligible for early intervention (EI). When families know prenatally of this diagnosis, they are not eligible for EI until their baby is born despite other developmental programs starting during pregnancy. Seventeen families who had a prenatal diagnosis of Down syndrome shared their experiences with formal, intermediate, and informal resources during their pregnancy. Findings centered on families' appraisals of those resources to meet their desire for a positive, hopeful pregnancy and parenting vision. Implications are discussed for early childhood prenatal home visitors, early childhood professionals overall, and EI systems and professionals. [ABSTRACT FROM AUTHOR]

The objective of the present study is to investigate the impact of Sex Chromosome Trisomy (SCT; XXX, XXY, XYY) on the early appearance of Autism Spectrum Disorder (ASD) symptoms, and the predictive value of Joint Attention for symptoms of ASD. SCTs are specific genetic conditions that may serve as naturalistic 'at risk' models of neurodevelopment, as they are associated with increased risk for neurobehavioral vulnerabilities. A group of 82 children with SCT (aged 1–8 years) was included at baseline of this longitudinal study. Joint Attention was measured at baseline with structured behavior observations according to the Early Social Communication Scales. ASD symptoms were assessed with the Modified Checklist for Autism in Toddlers questionnaire and Autism Diagnostic Interview-Revised in a 1-year follow-up. Recruitment and assessment took place in the Netherlands and in the United States. The results demonstrate that ASD symptoms were substantially higher in children with SCT compared to the general population, with 22% of our cohort at clinical risk for ASD, especially in the domain of social interaction and communication. Second, a predictive value of Joint Attention was found for ASD symptoms at 1-year follow-up. In this cohort, no differences were found between karyotype-subtypes. In conclusion, from a very early age, SCT can be associated with an increased risk for vulnerabilities in adaptive social functioning. These findings show a neurodevelopmental impact of the extra X or Y chromosome on social adaptive development associated with risk for ASD already from early childhood onward. These findings advocate for close monitoring and early (preventive) support, aimed to optimize social development of young children with SCT. [ABSTRACT FROM AUTHOR]

Fetal neurology is a rapidly evolving field. Consultations aim to diagnose, prognosticate, and coordinate prenatal and perinatal management along with other specialists and counsel expectant parents. Practice parameters and guidelines are limited. A 48-question online survey was administered to child neurologists. Questions targeted current care practices and perceived priorities for the field. Representatives from 43 institutions in the United States responded; 83% had prenatal diagnosis centers, and the majority performed on-site neuroimaging. The earliest gestational age for fetal magnetic resonance imaging was variable. Annual consultations ranged from <20 to >100 patients. Fewer than half (n = 17.40%) were subspecialty trained. Most respondents (n = 39.91%) were interested in participating in a collaborative registry and educational initiatives. The survey highlights heterogeneity in clinical practice. Large multisite and multidisciplinary collaborations are essential to gather data that inform outcomes for fetuses evaluated across institutions through registries as well as creation of guidelines and educational material. [ABSTRACT FROM AUTHOR]

To evaluate whether differences in euploidy rates exist between intracytoplasmic sperm injection (ICSI) and conventional insemination (CI) in nonmale factor infertility cases. Retrospective cohort study. A single, academically affiliated infertility center in the United States. A total of 3554 patients who underwent in vitro fertilization cycles from January 2014 to December 2021. All cycles that had preimplantation testing for aneuploidy (PGT-A) performed by trophectoderm biopsy and had a postpreparation sperm concentration >4 million total motile sperm per milliliter were included. The primary outcome was the embryo euploidy rate per embryo biopsied in the ICSI vs. CI group. Secondary outcomes included the fertilization rate and number of embryos biopsied. Generalized estimating equations with a Poisson distribution were used to estimate the euploid rate ratio (with total embryos biopsied as an offset), while accounting for multiple retrievals per patient. To adjust for confounding, a propensity score model was fit for ICSI using 14 baseline female and male characteristics. Oocytes retrieved and the number of embryos biopsied were similar in both groups, while the fertilization rate per oocyte retrieved was significantly lower with ICSI (0.64 vs. 0.66). The proportion of euploid embryos in the ICSI group was significantly lower when compared with CI (0.47 vs. 0.52), with a euploid rate ratio of 0.89. Interestingly, when accounting for the variation in PGT reference laboratories over the study time period, adjusting for the date of procedure did not change the relationship between ICSI and euploid rate (rate ratio = 0.89); however, after adjusting for the PGT reference laboratory, the relationship between ICSI and euploid rate was no longer significant (rate ratio = 0.97). In the setting of nonmale factor infertility, ICSI resulted in a lower fertilization rate and an 11% lower embryo euploid rate compared with CI. Although the data are not statistically significant when adjusted for the PGT reference laboratory, we still can conclude that ICSI does not provide any benefit. These data support the recommendation that CI should be the preferred methodology for fertilization in nonmale factor infertility cases. [ABSTRACT FROM AUTHOR]

Introduction: Speckle tracking analysis was used to evaluate right (RA) and left (LA) atria size, shape and contractility to create a probability calculator to identify fetuses at risk for urgent neonatal balloon atrial septostomy (BAS). Methods: The study group consisted of 39 fetuses with D‐TGA, of which 55% (N = 22) required neonatal BAS and 45% (N = 17) did not. The RA and LA end‐diastolic areas, lengths, widths, and sphericity indices as well as global, longitudinal, and transverse contractility were measured with speckle tracking analysis. The z‐scores of the measurements were compared to 200 controls. Logistic regression analysis of the computed z‐score measurements was performed to separate fetuses requiring urgent neonatal atrial BAS from those who did not. Results: The following z‐score values for all fetuses with D‐TGA, irrespective of whether they required neonatal BAS, that were significantly less than controls: RA base sphericity index, basal–apical length fractional shortening, fractional area change, lateral wall annular plane systolic excursion (APSE), and longitudinal reservoir strain; LA mid‐chamber width, fractional shortening, ejection fraction, basal–apical length fractional shortening, atrial ejection volume, septal wall APSE, and reservoir strain. The following z‐score values were significantly larger than control values: RA/LA mid‐chamber width, RA/LA base width, and RA mid‐chamber length. Logistic regression analysis identified the following five measurements that correctly identified 19 of 22 fetuses requiring urgent neonatal atrial BAS with a sensitivity of 86.4%, a false‐positive rate of 11.8% and a positive predictive value of 90.4%: (1) LA mid‐chamber transverse fractional shortening, (2) RA mid‐chamber end‐diastolic width, (3) RA basal–apical length fractional shortening, (4) RA mid‐chamber fractional shortening, and (5) RA fractional area change. Conclusion: Using the measurements described in this study identified significant differences between all fetuses with D‐TGA and controls, as well as identified measurements that predicted the probability of D‐TGA fetuses requiring neonatal septostomy. [ABSTRACT FROM AUTHOR]

Introduction: Routine prenatal screening ultrasounds primarily serve to diagnose major fetal anomalies which may prompt further testing and inform clinical decision-making, including possible pregnancy termination. Meanwhile, expectant parents may view the ultrasound experience and information gained differently from their clinicians. In this setting, how to best counsel patients, especially regarding the increasing findings of indeterminant clinical significance, is unclear. Greater understanding of women's views before undergoing their ultrasound may help to guide anticipatory counseling about the purpose of screening and interpretation of results. Methods: We surveyed 289 patients presenting for scheduled prenatal ultrasounds at an academic tertiary care center. Discrete and open-ended questions assessed views surrounding the receipt of abnormal results and management of the pregnancy once fetal anomalies are detected. Qualitative responses were analyzed using thematic analysis. Results: Most (95%) desired information about abnormal sonographic findings, although only half would consider pregnancy termination for anomalies. Reasons for wanting return of abnormal results included preparedness, valuing knowledge, and to a lesser extent, informing decision-making. When considering potential termination as a result of ultrasound findings, participants' rationales demonstrated deontological (seeing termination as inherently impermissible or permissible), relational (duties arising from the role of being a mother), and consequentialist (weighing harms and benefits) reasoning. Conclusion: This study highlights women's perceptions of prenatal ultrasounds as an inherently valuable source of information and preparedness, beyond their role in informing clinical decision-making. Identifying the ethical constructs underpinning patients' perspectives may help direct development of counseling tools responsive to individual needs and values regarding prenatal ultrasound findings. [ABSTRACT FROM AUTHOR]

Objective: Prenatal genetic testing is routinely offered to all pregnant patients in the United States and is variably offered to certain pregnant populations globally [1]. To achieve value-based, informed decision-making, we argue for a shift away from the predominant "teaching" model of genetic counseling practice that prioritizes information and counselor dominance, toward a "counseling" model of practice that prioritizes the patient's narrative, values and beliefs., Discussion: Since prenatal testing began, genetic counseling has aimed to facilitate informed decision-making. Many patients are not familiar with the conditions which can be screened for prenatally or the quality of life of affected children. This lack of understanding can leave expectant parents unprepared to make informed decisions about prenatal testing. As the number of prenatal genetic tests expands, genetic counselors and all healthcare providers who discuss prenatal testing face a growing amount of information that is not feasible to explain to patients in a routine appointment. Research demonstrates that the common approach to genetic counseling, including in the prenatal setting, is the provision of biomedical information. Yet, genetic counseling outcome studies suggest that attending to the relational aspects of genetic counseling are associated with more positive patient outcomes, including enhanced knowledge, informed decision-making and greater patient satisfaction [2,3]. Through case vignettes, we illustrate the application of a counseling model of practice using Accreditation Council for Genetic Counseling (ACGC) practice-based competencies in the domain of "Interpersonal, Psychosocial and Counseling Skills" [4]. Finally, we propose changes across the genetic counseling profession to move clinical practice toward a more relational model of care., Practice Implications: A counseling model of genetic counseling practice leads to more positive patient outcomes [2,3]. Genetic counselors and other prenatal healthcare providers can leverage existing counseling and communication skills to support clients in value-based, informed decision-making in prenatal genetic counseling practice., Competing Interests: Declaration of Competing Interest The authors declare the following financial interests/personal relationships which may be considered as potential competing interests: Kendra L Schaa reports a relationship with Allay Life® that includes: employment. If there are other authors, they declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Published by Elsevier B.V.)

In order to solve the problem of scanning magnetic resonance imaging in prenatal diagnosis, the application and research of placental implantation have been proposed. Placental implantation is a serious obstetric emergency, which refers to the abnormal attachment of placental villi caused by the dysplasia of decidual basal layer. A study from the United States showed that the incidence of placental implantation in pregnant women during delivery increased from 9.9/30000 to 11.6/20000 from 2006 to 2019, which increased the risk of prenatal or postpartum hemorrhage, hysterectomy, stillbirth, abdominal organ injury, and so on. Clinically, patients can show severe prenatal or postpartum hemorrhage, postpartum placental retention, uterine perforation, and secondary infection, which may seriously endanger the lives of pregnant mothers and fetuses. Placental implantation can also have no obvious symptoms before delivery, which leads to insufficient prenatal diagnosis. Gielchinsky retrospectively studied 410 patients with placental implantation and found that only 9 patients were detected by prenatal ultrasound or magnetic resonance imaging (MRI), and the detection rate was only 6.6%. It can be seen that if the accurate diagnosis of placental implantation can be made before prenatal or symptoms appear, clinical intervention treatment can be carried out in time to reduce the probability of hysterectomy and improve the examination means of patients' prerecovery. At present, studies at home and abroad suggest that it has good clinical application value and research prospect in the clinical diagnosis of placental implantation. [ABSTRACT FROM AUTHOR]

Introduction: The rates of syphilis among pregnant women and infants have increased in recent years, particularly in the U.S. South. Although state policies require prenatal syphilis testing, recent screening rates comparable across Southern states are not known. The purpose of this study is to measure syphilis screening among Medicaid enrollees with delivery in states in the U.S. South.Methods: A total of 6 state-university research partnerships in the U.S. South developed a distributed research network to analyze Medicaid claims data using a common analytic approach for enrollees with delivery in fiscal years 2017-2018 and 2018-2019 (combined N=504,943). In 2020-2021, each state calculated the percentage of enrollees with delivery with a syphilis screen test during the first trimester, third trimester, and at any point during pregnancy. Percentages for those with first-trimester enrollment were compared with the percentages of those who enrolled in Medicaid later in pregnancy.Results: Prenatal syphilis screening during pregnancy ranged from 56% to 91%. Screening was higher among those enrolled in Medicaid during the first trimester than in those enrolled later in pregnancy.Conclusions: Despite state laws requiring syphilis screening during pregnancy, screening was much lower than 100%, and states varied in syphilis screening rates among Medicaid enrollees. Findings indicate that access to Medicaid in the first trimester is associated with higher rates of syphilis screening and that efforts to improve access to screening in practice settings are needed. [ABSTRACT FROM AUTHOR]

The use of assisted reproductive technology has increased in the United States in the past several decades. Although most of these pregnancies are uncomplicated, in vitro fertilization is associated with an increased risk for adverse perinatal outcomes primarily caused by the increased risks of prematurity and low birthweight associated with in vitro fertilization pregnancies. This Consult discusses the management of pregnancies achieved with in vitro fertilization and provides recommendations based on the available evidence. The recommendations by the Society for Maternal-Fetal Medicine are as follows: (1) we suggest that genetic counseling be offered to all patients undergoing or who have undergone in vitro fertilization with or without intracytoplasmic sperm injection (GRADE 2C); (2) regardless of whether preimplantation genetic testing has been performed, we recommend that all patients who have achieved pregnancy with in vitro fertilization be offered the options of prenatal genetic screening and diagnostic testing via chorionic villus sampling or amniocentesis (GRADE 1C); (3) we recommend that the accuracy of first-trimester screening tests, including cell-free DNA for aneuploidy, be discussed with patients undergoing or who have undergone in vitro fertilization (GRADE 1A); (4) when multifetal pregnancies do occur, we recommend that counseling be offered regarding the option of multifetal pregnancy reduction (GRADE 1C); (5) we recommend that a detailed obstetrical ultrasound examination (CPT 76811) be performed for pregnancies achieved with in vitro fertilization and intracytoplasmic sperm injection (GRADE 1B); (6) we suggest that fetal echocardiography be offered to patients with pregnancies achieved with in vitro fertilization and intracytoplasmic sperm injection (GRADE 2C); (7) we recommend that a careful examination of the placental location, placental shape, and cord insertion site be performed at the time of the detailed fetal anatomy ultrasound, including evaluation for vasa previa (GRADE 1B); (8) although visualization of the cervix at the 18 0/7 to 22 6/7 weeks of gestation anatomy assessment with either a transabdominal or endovaginal approach is recommended, we do not recommend serial cervical length assessment as a routine practice for pregnancies achieved with in vitro fertilization (GRADE 1C); (9) we suggest that an assessment of fetal growth be performed in the third trimester for pregnancies achieved with in vitro fertilization; however, serial growth ultrasounds are not recommended for the sole indication of in vitro fertilization (GRADE 2B); (10) we do not recommend low-dose aspirin for patients with pregnancies achieved with IVF as the sole indication for preeclampsia prophylaxis; however, if 1 or more additional risk factors are present, low-dose aspirin is recommended (GRADE 1B); (11) given the increased risk for stillbirth, we suggest weekly antenatal fetal surveillance beginning by 36 0/7 weeks of gestation for pregnancies achieved with in vitro fertilization (GRADE 2C); (12) in the absence of studies focused specifically on timing of delivery for pregnancies achieved with IVF, we recommend shared decision-making between patients and healthcare providers when considering induction of labor at 39 weeks of gestation (GRADE 1C). [ABSTRACT FROM AUTHOR]

Objective: To compile current usage of serum-based prenatal screening for Down syndrome in the United States and compare it with results from a similar 2011/2012 survey. Setting: The College of American Pathologists maternal screening proficiency testing survey includes a supplemental question on the first of three yearly distributions. Methods: Information regarding tests offered and the monthly number of pregnancies tested for US-based laboratories were reviewed. Results were stratified by size of laboratory, tests offered, and pregnancies tested. Findings were compared to an earlier survey. Results: Fifty-six laboratories reported they will have screened 1,131,336 pregnancies in 2020. Of these, 36% are screened by stand-alone first trimester testing, 48% by stand-alone second trimester testing, and 16% using tests that integrate results from both trimesters. Eighty percent of all serum screens were provided by the five laboratories that performed the most screens (at least 50,000). These five performed similar proportions of first or second trimester screens (42.2% and 41.8%, respectively). Compared to eight years earlier, there are now 54% fewer laboratories. Pregnancies screened using the first trimester, second trimester, and integrated protocols were lower by 27%, 69%, and 72%, respectively. The serum screening activity in the US showed a 62% decrease from 2012 levels. During 2012–2020, the number of cell-free DNA tests increased from negligible to 1,492,332. Conclusions: Maternal serum screening for common aneuploidies has changed significantly in eight years with fewer laboratories, a shift toward larger laboratories and a 2.5-fold reduction in pregnancies tested, likely due to the introduction of cell-free DNA screening. [ABSTRACT FROM AUTHOR]

In the United States, the common approach to detecting gestational diabetes mellitus is the 2-step protocol recommended by the American College of Obstetricians and Gynecologists. A 50 g, 1-hour glucose challenge at 24 to 28 weeks' gestation is followed by a 100 g, 3-hour oral glucose tolerance test when a screening test threshold is exceeded. Notably, 2 or more elevated values diagnose gestational diabetes mellitus. The 2-step screening test is administered without regard to the time of the last meal, providing convenience by eliminating the requirement for fasting. However, depending upon the cutoff used and population risk factors, approximately 15% to 20% of screened women require the 100 g, 3-hour oral glucose tolerance test. The International Association of Diabetes and Pregnancy Study Groups recommends a protocol of no screening test but rather a diagnostic 75 g, 2-hour oral glucose tolerance test. One or more values above threshold diagnose gestational diabetes mellitus. The 1-step approach requires that women be fasting for the test but does not require a second visit and lasts 2 hours rather than 3. Primarily because of needing only a single elevated value, the 1-step approach identifies 18% to 20% of pregnant women as having gestational diabetes mellitus, 2 to 3 times the rate with the 2-step procedure, but lower than the current United States prediabetes rate of 24% in reproductive aged women. The resources needed for the increase in gestational diabetes mellitus are parallel to the resources needed for the increased prediabetes and diabetes in the nonpregnant population. A recent randomized controlled trial sought to assess the relative population benefits of the above 2 approaches to gestational diabetes mellitus screening and diagnosis. The investigators concluded that there was no significant difference between the 2-step screening protocol and 1-step diagnostic testing protocol in their impact on population adverse short-term pregnancy outcomes. An accompanying editorial concluded that perinatal benefits of the 1-step approach to diagnosing gestational diabetes mellitus "appear to be insufficient to justify the associated patient and healthcare costs of broadening the diagnosis." We raise several concerns about this conclusion. The investigators posited that a 20% improvement in adverse outcomes among the entire pregnancy cohort would be necessary to demonstrate an advantage to the 1-step approach and estimated the sample size based on that presumption, which we believe to be unlikely given the number of cases that would be identified. In addition, 27% of the women randomized to the 1-step protocol underwent 2-step testing; 6% of the study cohort had no testing at all. A subset of women assigned to 2-step testing did not meet the criteria for gestational diabetes mellitus but were treated as such because of elevated fasting plasma glucose levels, presumably contributing to the reduction in adverse outcomes but not to the number of gestational diabetes mellitus identified, increasing the apparent efficacy of the 2-step approach. No consideration was given to long-term benefits for mothers and offspring. All these factors may have contributed to obscuring the benefits of 1-step testing; most importantly, the study was not powered to identify what we understand to be the likely impact of 1-step testing on population health. [ABSTRACT FROM AUTHOR]

Preimplantation genetic testing for aneuploidy (PGT-A) remains one of the most controversial topics in reproductive medicine. With more than 40% of in vitro fertilization cycles in the United States reportedly involving PGT, both those in favor of and those opposed to PGT-A have significant interest in the efficacy of PGT-A. Ongoing issues include what patient population, if any, benefits from PGT-A, the true frequency of chromosomal mosaicism, whether embryonic aneuploidies self-correct, and how practitioners manage embryos designated as "mosaic." This review addresses several misconceptions and misinterpretations of data surrounding the genetic analysis and prediction of mosaicism in the preimplantation embryo. [ABSTRACT FROM AUTHOR]

Why you should read this article: • To refresh your knowledge of the genetics of Huntington's disease • To enhance your awareness of the implications of pre-symptomatic genetic testing for Huntington's disease • To reflect on situations that require special consideration before genetic testing is conducted Huntington's disease is a fatal and progressive neurodegenerative disease characterised by a shrinkage of the brain, movement abnormalities and cognitive decline. It is an autosomal dominant disease caused by a DNA mutation in the huntingtin gene located on chromosome 4. Children with one parent affected by Huntington's disease have a 50% risk of inheriting the faulty gene. Genetic testing for Huntington's disease has been available for more than 20 years and can be used for pre-symptomatic or confirmatory testing. Healthcare professionals across a variety of specialties and settings, including primary care, may encounter patients who ask to be genetically tested for Huntington's disease. This article explains the genetics of Huntington's disease, describes its clinical diagnosis, identifies some of the implications of pre-symptomatic genetic testing and discusses situations that require special consideration before the decision to conduct genetic testing is made. The article is written from a US perspective, but the implications and challenges discussed are highly relevant in the UK. [ABSTRACT FROM AUTHOR]

Although there are numerous benefits to diagnostic prenatal testing, such as fetal exome sequencing, there are also consequences, including the possibility of receiving variants of uncertain significance or identifying secondary findings. In this study, we utilized a survey-based discrete choice experiment to elicit the preferences of pregnant people in Northern California for hypothetical prenatal genomic tests. Pregnant individuals were invited to complete the survey through advertisements on social media. Five test attributes were studied: likelihood of getting a result, time taken to receive results, who explains results, reporting of uncertain results, and reporting of secondary findings. The survey also gathered information about the participants' demographics, current and past pregnancies, and tolerance of uncertainty using the IUS-12 scale. Participants were eligible if they were female, currently 24 or more weeks pregnant, and able to read/write enough English or Spanish to complete an online survey. Overall, participants (n = 56) preferred the option of having a prenatal test over not having a prenatal test (p < 0.01) and had substantially higher preferences for tests with the highest likelihood of getting a result (p < 0.01). There were also positive preferences for tests that reported secondary findings (p = 0.01) and those where results were returned by a genetic specialist (vs. their prenatal provider) (p = 0.04). These findings can be used to guide conversations between pregnant individuals and genetics specialists, such as genetic counselors, as they weigh the pros and cons of diagnostic prenatal testing options., (© 2023 The Authors. Journal of Genetic Counseling published by Wiley Periodicals LLC on behalf of National Society of Genetic Counselors.)

Background: Noninvasive prenatal testing (NIPT) designed to screen for fetal genetic conditions, is increasingly being implemented as a part of routine prenatal care screening in the United States (US). However, these advances in reproductive genetic technology necessitate empirical research on the ethical and social implications of NIPT among populations underrepresented in genetic research, particularly Black women with sickle cell disease (SCD)., Methods: Forty ( N  = 40) semi-structured interviews were conducted virtually with Black women in the US (19 participants with SCD; 21 participants without SCD) from June 2021 to January 2022. We employed a qualitative approach to examine the study participants' perceptions of the potential advancement of NIPT for screening SCD in the fetus. Data were analyzed using NVivo 12 qualitative software., Results: The themes revealed the complexities involving the intersectional lived experiences of SCD, prenatal care, lack of synergy among health providers, and NIPT decision-making. The results further revealed that even when Black women have shared commonalities in their lived experiences while navigating SCD and motherhood, their perceptions of NIPT screening technologies are divergent., Conclusion: Expanding the ethical discourse on the social implications of NIPT is critical to fully elucidate how Black women perceive NIPT's utility, particularly as NIPT advances to screen for SCD in the fetus. Neglecting to include Black women with genetic conditions in empirical studies on NIPT may contribute to ongoing health inequities and limit and constrain reproductive choices among Black women with and without SCD.

The article focuses on the frequency of perinatal hepatitis C cases among children exposed during 2018–2020 in seven U.S. jurisdictions, revealing that only one-third of the expected cases were reported to public health authorities. Topics include the challenges in testing and surveillance, the Centers for Disease Control and Prevention's recommendations for earlier HCV RNA testing, and the observed gap in testing patterns for children perinatally exposed to hepatitis C.

In the United States, it is estimated that 1% to 4% of pregnant women are infected with hepatitis C virus, which carries approximately a 5% risk of transmission from mother to infant. Hepatitis C virus can be transmitted to the infant in utero or during the peripartum period, and infection during pregnancy is associated with an increased risk of adverse fetal outcomes, including fetal growth restriction and low birthweight. The purpose of this document is to discuss the current evidence, provide updated recommendations regarding screening, review treatment, and address management of hepatitis C virus during pregnancy. The following are the Society for Maternal-Fetal Medicine's recommendations: (1) We suggest that third trimester assessment of fetal growth may be performed, but antenatal testing is not indicated in the setting of hepatitis C virus diagnosis alone (GRADE 2C); (2) we suggest screening for viral hepatitis in patients with a diagnosis of intrahepatic cholestasis of pregnancy at an early gestational age or with high levels of bile acids (GRADE 2C); (3) we recommend that obstetrical providers screen all pregnant patients for hepatitis C virus by testing for anti-hepatitis C virus antibodies in every pregnancy (GRADE 1B); (4) we suggest that obstetrical care providers screen hepatitis C virus-positive pregnant patients for other sexually transmitted infections (if not done previously), including human immunodeficiency virus, syphilis, gonorrhea, chlamydia, and hepatitis B virus (GRADE 2C); (5) we recommend vaccination against hepatitis A and B viruses (if not immune) for patients with hepatitis C virus (GRADE 1B); (6) we recommend that direct-acting antiviral regimens only be initiated in the setting of a clinical trial during pregnancy and that people who become pregnant while taking a direct-acting antiviral should be counseled in a shared decision-making framework about the risks and benefits of continuation (GRADE 1C); (7) we suggest that if prenatal diagnostic testing is requested, patients are counseled that data regarding the risk of vertical transmission are reassuring but limited (GRADE 2C); (8) we recommend against cesarean delivery solely for the indication of hepatitis C virus (GRADE 1B); (9) we suggest that obstetrical care providers avoid internal fetal monitors and early artificial rupture of membranes when managing labor in patients with hepatitis C virus unless necessary in the course of management (ie, when unable to trace the fetal heart rate with external monitors and the alternative is proceeding with cesarean delivery) (GRADE 2B); (10) we recommend that hepatitis C virus status not alter standard breastfeeding counseling and recommendations unless nipples are cracked or bleeding (GRADE 1A). [ABSTRACT FROM AUTHOR]

Background: In 2017, the American College of Cardiology/ American Heart Association (ACC/AHA) guidelines redefined the threshold of high blood pressure (BP) for non-pregnant adults. Several studies aimed to determine whether lowering these thresholds should be considered for pregnancies to prevent poor neonatal outcomes, but the results were inconclusive.Methods: We perform a systematic review and meta-analysis to evaluate the association between BP groups defined by the 2017 ACC/AHA guidelines and pregnancy outcomes. Relevant literature was searched in PubMed, Google Scholar, Embase, and Web of Science up to 18 May 2021.Results: Sixteen eligible studies from twelve articles with a total of 303,131 pregnancies were identified, encompassing 233,084, 20,859, 39,379 individuals with normal BP, elevated BP, and stage 1 hypertension, respectively. When compared with normal BP, the combined odds ratio (95% confidence interval) of elevated BP for adverse pregnancy outcomes was not significant; whereas, that of stage 1 hypertension were 1.25 (1.13-1.39), 1.16 (1.03-1.31), 1.50 (1.28-1.77) and 1.12 (1.00-1.25) for preterm delivery, small for gestational age, low birth weight, and early-term delivery, respectively.Conclusion: Our results indicated that stage 1 hypertension increased the risk of poor neonatal outcomes, highlighting the importance of recognition of stage 1 hypertension as a risk indicator for poor pregnancy outcomes. [ABSTRACT FROM AUTHOR]

Objectives: Thyroid dysfunction in pregnancy is associated with increased risk of adverse outcomes to mother and child. Trimester-specific reference intervals for thyroid function tests are not routinely provided by clinical laboratories. In this study, we present first- and second-trimester-specific reference intervals in a US population for thyroid-stimulating hormone (TSH), free thyroxine (FT4), total thyroxine (T4), and total triiodothyronine (T3) measured on Roche analyzers.Methods: We used patient samples from first- and second-trimester prenatal screening. Samples were limited to singleton pregnancies and negative screening results for thyroid peroxidase and thyroglobulin antibodies. Analytes (TSH, FT4, T4, and T3) were measured on a Roche Modular e170 then verified on a Roche cobas e801.Results: The reference intervals established on the e170 and verified on the e801 for the first trimester were 0.16 to 2.82 mIU/L for TSH, 12.0 to 18.5 pmol/L for FT4, 62.8 to 177.9 nmol/L for T4, and 1.5 to 3.4 nmol/L for T3. The reference intervals for the second trimester were 0.40 to 3.62 mIU/L for TSH, 10.2 to 16.6 pmol/L for FT4, 66.6 to 176.0 nmol/L for T4, and 1.56 to 3.6 nmol/L for T3.Conclusions: This is the first report of trimester-specific reference intervals for thyroid function tests on Roche analyzers in the United States, and it is consistent with worldwide reports. [ABSTRACT FROM AUTHOR]

Congenital rubella syndrome is rare in high-income countries. A 19-year-old pregnant female, who recently immigrated to the United States, presented to clinic for prenatal care at 21 weeks of gestational age. Prenatal ultrasound demonstrated twin gestations with a cleft lip present in twin B. Ultrasound at 36 weeks of gestational age demonstrated fetal demise in twin A and growth restriction in twin B. Twin B was delivered via emergency C-section due to fetal distress. The viable neonate demonstrated multiple abnormalities including microcephaly, patent ductus arteriosus, atrial septal defect, cardiomegaly, pulmonary edema, congenital polar cataracts, congenital adrenal hyperplasia, thyroiditis, cleft palate/lip, and abnormal hearing. [ABSTRACT FROM AUTHOR]

Hypertensive disorders of pregnancy constitute one of the leading causes of maternal and perinatal mortality worldwide. It has been estimated that preeclampsia complicates 2-8% of pregnancies globally (). In Latin America and the Caribbean, hypertensive disorders are responsible for almost 26% of maternal deaths, whereas in Africa and Asia they contribute to 9% of deaths. Although maternal mortality is much lower in high-income countries than in developing countries, 16% of maternal deaths can be attributed to hypertensive disorders (). In the United States, the rate of preeclampsia increased by 25% between 1987 and 2004 (). Moreover, in comparison with women giving birth in 1980, those giving birth in 2003 were at 6.7-fold increased risk of severe preeclampsia (). This complication is costly: one study reported that in 2012 in the United States, the estimated cost of preeclampsia within the first 12 months of delivery was $2.18 billion ($1.03 billion for women and $1.15 billion for infants), which was disproportionately borne by premature births (). This Practice Bulletin will provide guidelines for the diagnosis and management of gestational hypertension and preeclampsia. [ABSTRACT FROM AUTHOR]

Introduction: Noninvasive prenatal testing (NIPT) using cell-free fetal DNA has increasingly been adopted as a screening tool for fetal aneuploidies. Several studies have discussed benefits and limitations of NIPT compared with both ultrasound and invasive procedures, but in spite of some shortcomings NIPT has become extensively used within the last 5 years. This study aims to describe the current use of NIPT in Europe, Australia and the USA.Material and Methods: We conducted a survey to describe the current use of NIPT. Colleagues filled in a simple email-based questionnaire on NIPT in their own country, providing information on (a) access to NIPT, (b) NIPT's chromosomal coverage, (c) financial coverage of NIPT for the patient and (d) the proportion of women using NIPT in pregnancy. Some data are best clinical estimates, due to a lack of national data.Results: In Europe, 14 countries have adopted NIPT into a national policy/program. Two countries (Belgium and the Netherlands) offer NIPT for all pregnant women, whereas most other European countries have implemented NIPT as an offer for higher risk women after first trimester screening. In Australia, either combined first trimester screening (cFTS) or NIPT is used as a primary prenatal screening test. In the USA, there are no national consensus policies on the use of NIPT; however, NIPT is widely implemented. In most European countries offering NIPT, the proportion of women using NIPT is well below 25%. In the Netherlands, Austria, Italy, Spain and most Australian and American States, 25%-50% of women have NIPT performed and in Belgium testing is above 75%. In most countries, NIPT reports on trisomy 13, 18 and 21, and often also on sex chromosome aneuploidies. Only in Belgium, the Netherlands, Lithuania, Greece, Cyprus and Italy is NIPT offered predominantly as a genome-wide test (including some microdeletions or a whole genome coverage).Conclusions: Noninvasive prenatal testing has been widely adopted throughout Europe, Australia and the USA, but only a few countries/states have a national policy on the use of NIPT. The variation in NIPT utilization is considerable. [ABSTRACT FROM AUTHOR]

Objectives: Prenatal detection of congenital heart disease with obstetric screening remains at less than 50% in most population studies, far from what is thought to be achievable. We sought to identify barriers/facilitators for screening from the perspective of interpreting physicians and to understand how these barriers/facilitators may be associated with interpretation of screening images. Methods: Our mixed‐methods studies included 4 focus groups in centers across the United States with obstetric, maternal‐fetal medicine, and radiology providers who interpreted obstetric ultrasound studies. Themes around barriers/facilitators for fetal heart screening were coded from transcripts. A national Web‐based survey was then conducted, which quantitatively measured reported barriers/facilitators and measured physicians' ability to interpret fetal heart‐screening images. Multivariable generalized linear random‐effect models assessed the association between barriers/facilitators and the accuracy of image interpretation at the image level. Results: Three main themes were identified in the focus groups: intrinsic barriers (ie, comfort with screening), external barriers (ie, lack of feedback), and organizational barriers (ie, study volumes). Among 190 physician respondents, 104 interpreted ultrasound studies. Perceptions of barriers varied by practice setting, with nontertiary providers having lower self‐efficacy and perceived usefulness of cardiac screening. Facilitators associated with the odds of accurate interpretation of screening images were knowledge (odds ratio, 2.54; P =.002) and the volume of scans per week (odds ratio, 1.01 for every additional scan; P =.04). Conclusions: Some of the main barriers to cardiac screening identified and prioritized by physicians across the United States were knowledge of screening and minimal volumes of scans. Targeting these barriers will aid in improving prenatal detection of congenital heart disease. [ABSTRACT FROM AUTHOR]

Recommendations for screening for hepatitis B immunity in pregnancy and vaccinating susceptible women vary among professional societies. The American College of Obstetricians and Gynecologists recommends vaccinating high-risk women for hepatitis B. However, only one fourth of U.S. adults have received a complete hepatitis B vaccination series. Because two thirds of individuals with chronic hepatitis B are unaware of their diagnosis, risk-based screening for immunity followed by vaccination of susceptible women may not identify and protect all women at risk. Acquisition of hepatitis B poses short-term and long-term risks to maternal and fetal health, an outcome that can be prevented by vaccination. Hepatitis B vaccination in pregnancy is safe and efficacious and can be completed during the course of prenatal care. Universal screening for hepatitis B immunity and vaccination of susceptible women in pregnancy should be a priority during prenatal care. Cost-effectiveness studies are needed to validate this approach. [ABSTRACT FROM AUTHOR]

Objective: We surveyed obstetric sonographers, who are at the forefront of the screening process to determine how barriers to prenatal cardiac screening impacted screening abilities.Methods: We performed a cross-sectional national survey of obstetric sonographers in the United States using a sampling frame from American Registry of Diagnostic Medical Sonography mailing lists. The web survey measured the ability to obtain and interpret fetal heart images. Several cognitive, sociodemographic, and system-level factors were measured, including intention to perform cardiac imaging. Regression and mediation analyses determined factors associated with intention to perform and ability to obtain and interpret cardiac images. Subgroup analyses of sonographers in tertiary versus nontertiary centers were also performed.Results: Survey response rate either due to noncontact or nonresponse was 40%. Of 480 eligible sonographers, ~30% practiced in tertiary settings. Sonographers had lower intention to perform outflow views compared to 4 chambers. Higher self-efficacy and professional expectations predicted higher odds of intention to perform outflow views (OR 2.8, 95% CI 1.9-4.2 and 1.9, 95% CI 1.1-3.0, respectively). Overall accuracy of image interpretation was 65% (±14%). For the overall cohort and nontertiary subgroup, higher intention to perform outflows was associated with increased accuracy in overall image interpretation. For the tertiary subgroup, self-efficacy and feedback were strongly associated with accuracy.Conclusions: We identified several modifiable (some heretofore unrecognized) targets to improve prenatal cardiac screening. Priorities identified by sonographers that are associated with screening success should guide future interventions. [ABSTRACT FROM AUTHOR]

Objective: To estimate the risk of stillbirth (fetal death at 20 weeks of gestation or more) associated with specific birth defects.Methods: We identified a population-based retrospective cohort of neonates and fetuses with selected major birth defects and without known or strongly suspected chromosomal or single-gene disorders from active birth defects surveillance programs in nine states. Abstracted medical records were reviewed by clinical geneticists to confirm and classify all birth defects and birth defect patterns. We estimated risks of stillbirth specific to birth defects among pregnancies overall and among those with isolated birth defects; potential bias owing to elective termination was quantified.Results: Of 19,170 eligible neonates and fetuses with birth defects, 17,224 were liveborn, 852 stillborn, and 672 electively terminated. Overall, stillbirth risks ranged from 11 per 1,000 fetuses with bladder exstrophy (95% CI 0-57) to 490 per 1,000 fetuses with limb-body-wall complex (95% CI 368-623). Among those with isolated birth defects not affecting major vital organs, elevated risks (per 1,000 fetuses) were observed for cleft lip with cleft palate (10; 95% CI 7-15), transverse limb deficiencies (26; 95% CI 16-39), longitudinal limb deficiencies (11; 95% CI 3-28), and limb defects due to amniotic bands (110; 95% CI 68-171). Quantified bias analysis suggests that failure to account for terminations may lead to up to fourfold underestimation of the observed risks of stillbirth for sacral agenesis (13/1,000; 95% CI 2-47), isolated spina bifida (24/1,000; 95% CI 17-34), and holoprosencephaly (30/1,000; 95% CI 10-68).Conclusion: Birth defect-specific stillbirth risk was high compared with the U.S. stillbirth risk (6/1,000 fetuses), even for isolated cases of oral clefts and limb defects; elective termination may appreciably bias some estimates. These data can inform clinical care and counseling after prenatal diagnosis. [ABSTRACT FROM AUTHOR]

Background Hepatitis C virus' (HCV) chronic prevalence among pregnant women in the United States doubled nationally from 2009–2014 (~0.7%), yet many cases remain undiagnosed. Screening pregnant women is not recommended by the Society of Maternal-Fetal Medicine or the Centers for Disease Control and Prevention, despite new American Association For the Study of Liver Diseases (AASLD)/Infectious Diseases Society of America (IDSA) guidelines recommending screening for this group. We assessed the cost-effectiveness of HCV screening for pregnant women in the United States. Methods An HCV natural history Markov model was used to evaluate the cost-effectiveness of universal HCV screening of pregnant women, followed by treatment after pregnancy, compared to background risk-based screening from a health-care payer perspective. We assumed a HCV chronic prevalence of 0.73% among pregnant women, based on national data. We assumed no Medicaid reimbursement restrictions by fibrosis stage at baseline, but explored differing restrictions in sensitivity analyses. We assessed costs (in US dollars) and health outcomes (in quality-adjusted life-years [QALYs]) over a lifetime horizon, using new HCV drug costs of $25 000/treatment. We assessed mean incremental cost-effectiveness ratios (ICERs) under a willingness-to-pay threshold of $50 000/QALY gained. We additionally evaluated the potential population impact. Results Universal antenatal screening was cost-effective in all treatment eligibility scenarios (mean ICER <$3000/QALY gained). Screening remained cost-effective at a prevalence of 0.07%, which is the lowest estimated prevalence in the United States (in Hawaii). Screening the ~5.04 million pregnant women in 2018 could result in the detection and treatment of 33 000 women, based on current fibrosis restrictions. Conclusions Universal screening for HCV among pregnant women in the United States is cost-effective and should be recommended nationally. [ABSTRACT FROM AUTHOR]

Objectives: To evaluate the sensitivity of prenatal ultrasound (US) for trisomy (T18) diagnosis and describe US findings in a large tertiary care institution in the USA. Materials and methods: This was a retrospective cohort of all T18 cases diagnosed at our institution from October 2004 to October 2014 based on prenatal or postnatal genetic diagnostic testing. We included all women with a fetus affected by T18 who had a comprehensive US by a maternal–fetal medicine specialist performed at our institution. US findings were reviewed, classified by organ system, and categorized as an anomaly or soft marker. Chi-square or t-test was used for statistical analysis. Results: We included 128 cases of T18 with confirmed cytogenetic analysis −110 (86%) of which were diagnosed prenatally or suspected by cell-free DNA and confirmed postnatally, and 18 of which underwent neonatal blood sampling alone. One hundred and twenty-one (95%) had at least one abnormal US finding. Anomalies were more frequently identified on US at ≥20 weeks as compared with <20 weeks (93% versus 76%; p =.004). The mean number of findings detected per fetus was 5.1 ± 3.0. Fetuses diagnosed by postnatal sampling alone had a similar number of US exams performed and number of abnormal findings compared to those diagnosed prenatally. Conclusion: Ninety-five percent of fetuses with T18 had at least one abnormal US finding. This sensitivity of is higher than reported in most prior studies, but is not 100%, and should be considered when counseling women regarding prenatal diagnosis of T18. Rationale: Historical detection rates for abnormal sonographic findings in trisomy 18 fetuses range from 70% to 100%. These studies are limited by small sample sizes. This is a contemporary study of ultrasound findings in a large group of women with confirmed trisomy 18 by prenatal or postnatal genetic diagnosis. We provide expansive detail on soft markers and anomalies broken down by organ-system and gestational age. [ABSTRACT FROM AUTHOR]

Prenatal screening and testing are preference‐based health care options. They are offered so that pregnant women and their partners can learn genetic information about the developing fetus. In this literature review, I summarize studies of women's and their partners' psychological responses to prenatal testing and screening. These studies investigate the experiences of pregnant women, largely in the United States, who have access to health care services. Although the results indicate that these women are receptive to prenatal testing and screening and seem to have limited negative psychological consequences, pregnant women without access to these services are not represented and may have different experiences. With that caveat in mind, based on the evidence, women generally do well psychologically as they manage the options that arise for them in the prenatal context. [ABSTRACT FROM AUTHOR]

Objectives: We aim to determine factors that are associated with better outcomes of CDH patients.Methods: A retrospective review was performed on all CDH patients admitted to our institution between 2003 and 2016. This study was performed at a single institution which has a fetal care center. Patients admitted with CDH with at least 1-year follow-up during the analysis were included in the study.Results: Twenty-six (13.8%) patients had a hernia sac, 124 (59%) patients had liver herniation, and 56 (25.1%) patients had an accompanying syndrome. Overall survival to discharge was 73.1% while overall survival to date was 69.5%. The presence of a hernia sac, liver herniation, and accompanying syndromes showed as independent predictors influencing the survival, B 1.968, p = 0.04, OR 7.158, 95% CI 0.907-56.485, B - 1.178, p = 0.01, OR 3.932, 95% CI 1.798-8.602 and B - 1.032, p = 0.05, OR 2.795, 95% CI 0.976-7.764, respectively.Conclusion: In our CDH cohort, the presence of a hernia sac was proven to be associated with better outcomes, while thoracic herniation of the liver was associated with worse outcomes. The accompanying syndromes although being more difficult to manage had a little effect on the outcome of the disease itself. [ABSTRACT FROM AUTHOR]

Background Perinatal transmission is the major mode of hepatitis B virus (HBV) transmission and drives HBV endemicity in the US territory of Guam. We assessed correlates of prenatal hepatitis B surface antigen (HBsAg) screening and HBsAg positivity among pregnant women and evaluated the care of infants of HBsAg-positive women. Methods Demographic and clinical data were abstracted from the maternal medical records of 966 randomly selected live infants born in 2014. Frequencies were calculated, and prevalence ratios (PRs) and 95% confidence intervals (CIs) were estimated using Poisson regression. Results Among the mothers of the 966 infants, 78.2% were Pacific Islanders, 56.9% were >25 years old (born before universal infant hepatitis B vaccination in Guam), 89.0% received prenatal care (PNC), 96.7% underwent prenatal HBsAg screening, and 2.0% were HBsAg positive. Approximately 15% of the women who did not have PNC were not screened for HBsAg. Receipt of PNC was associated with HBsAg screening (adjusted PR, 1.13 [95% CI, 1.04–1.23]), and HBsAg positivity was associated with a maternal age of >25 years (adjusted PR, 6.80 [95% CI, 1.32–35.08]). All 18 infants of the HBsAg-positive mothers received hepatitis B vaccine, and 17 (94.4%) received hepatitis B immunoglobulin. Conclusion Although the prenatal HBsAg screening prevalence in this sample was high, the maternal HBsAg prevalence among women in this sample was more than 14 times and 2 times the prevalence among US-born Pacific Islander/Asian women and all women in the continental United States, respectively. Improving access to PNC, ensuring that all pregnant women in Guam (especially those born before universal hepatitis B vaccination) are screened for HBsAg, and adopting postexposure prophylaxis for infants of HBsAg-positive mothers as standard clinical practice are important for preventing perinatal HBV transmission and reducing HBV endemicity. [ABSTRACT FROM AUTHOR]

Background: Syphilis is caused by the spirochete bacterium Treponema pallidum. Syphilis left untreated, or inadequately treated during pregnancy, can result in congenital syphilis (CS). Congenital syphilis can lead to severe sequelae or fetal, neonatal, or infant death.Purpose: To discuss the epidemiological trends, pathophysiology, diagnosis, and management of CS; the implications of CS upon the infant; as well as the importance of the nurse's role in the prompt identification of CS and the timely interventions needed to minimize sequelae.Methods: A literature search was completed using ProQuest, CINAHL, Google Scholar, and PubMed. Articles published within the past 10 years were included.Findings: Epidemiological trends of CS in the United States indicate that maternal syphilis infection and CS are on the rise. Risk factors include ethnicity, socioeconomic status, access to prenatal care, and sexual behaviors, as well as compliance with prenatal syphilis screening by prenatal providers. Risks of CS to the developing fetus begin at approximately 14 weeks. Timely treatment is necessary to minimize or eliminate mortality and morbidity.Implications For Practice: Evidence-based, interprofessional strategies, which promote a collaborative perinatal/neonatal preventative approach to care of the pregnant female, are indicated to reverse the increasing incidence of CS within the United States. Strategies prioritizing early identification and treatment of at-risk neonates are necessary to reduce/eliminate the devastating long-term consequences of CS upon this vulnerable population.Implications For Research: The paucity of research, which focuses on CS, is most likely due to ethical concerns related to infants as research participants and provides an opportunity for future research. Future research could focus on factors that focus on maternal-fetal/maternal-child transmission of CS. [ABSTRACT FROM AUTHOR]

Objective: Accurate assessment of gestational age (GA) is critical to paediatric care, but is limited in developing countries without access to ultrasound. Our objectives were to assess the accuracy of prediction of GA at birth and preterm birth classification using routinely collected anthropometry measures.Design: Prospective cohort study.Setting: United States.Population or Sample: A total of 2334 non-obese and 468 obese pregnant women.Methods: Enrolment GA was determined based on last menstrual period, confirmed by first-trimester ultrasound. Maternal anthropometry and fundal height (FH) were measured by a standardised protocol at study visits; FH alone was additionally abstracted from medical charts. Neonatal anthropometry measurements were obtained at birth. To estimate GA at delivery, we developed three predictor models using longitudinal FH alone and with maternal and neonatal anthropometry. For all predictors, we repeatedly sampled observations to construct training (60%) and test (40%) sets. Linear mixed models incorporated longitudinal maternal anthropometry and a shared parameter model incorporated neonatal anthropometry. We assessed models' accuracy under varied scenarios.Main Outcome Measures: Estimated GA at delivery.Results: Prediction error for various combinations of anthropometric measures ranged between 13.9 and 14.9 days. Longitudinal FH alone predicted GA within 14.9 days with relatively stable prediction errors across individual race/ethnicities [whites (13.9 days), blacks (15.1 days), Hispanics (15.5 days) and Asians (13.1 days)], and correctly identified 75% of preterm births. The model was robust to additional scenarios.Conclusions: In low-risk, non-obese women, longitudinal FH measures alone can provide a reasonably accurate assessment of GA when ultrasound measures are not available.Tweetable Abstract: Longitudinal fundal height alone predicts gestational age at birth when ultrasound measures are unavailable. [ABSTRACT FROM AUTHOR]

The purpose of the present study was to highlight the individual voices of women who terminated their pregnancies for medical reasons (TFMR). The literature points to difficult emotional experiences for women who have experienced TFMR. However, research on women's stories concerning the entire TFMR process is limited. Written narratives from women in the United States who have experienced TFMR were analyzed using the Listening Guide. Findings suggest that women who experience TFMR go through a distinct emotional journey that evolves from feelings of excitement, to shock, then devastation, a sense that they made a compassionate choice, and, finally, gratitude. [ABSTRACT FROM AUTHOR]

In 2020, the American College of Obstetricians and Gynecologists recommended noninvasive prenatal testing be offered to all patients. However, current societal guidelines in the United States do not universally recommend a detailed first-trimester ultrasound. This study aimed to determine the additional findings identified through first-trimester ultrasound that would have otherwise been missed if noninvasive prenatal testing was used alone as a first-trimester screening method. This was a retrospective cohort study involving 2158 pregnant patients and 2216 fetuses that were seen at a single medical center between January 1, 2020, and December 31, 2022. All those included underwent both noninvasive prenatal testing and detailed first-trimester ultrasound between 11.0 and 13.6 weeks of gestation. Noninvasive prenatal testing results were categorized as low risk or high risk, and first-trimester ultrasound results were categorized as normal or abnormal. Abnormal first-trimester ultrasounds were further classified as first-trimester screening markers (increased nuchal translucency, absent nasal bone, tricuspid regurgitation, and ductus venosus reverse a-wave) or structural defects (the cranium, neck, heart, thorax, abdominal wall, stomach, kidneys, bladder, spine, and extremities). Descriptive statistics were used to report our findings. Of 2216 fetuses, 65 (3.0%) had a high-risk noninvasive prenatal testing result, whereas 2151 (97.0%) had a low-risk noninvasive prenatal testing result. Of those with a low-risk noninvasive prenatal testing result, 2035 (94.6%) had a normal first-trimester ultrasound, whereas 116 (5.4%) had at least 1 abnormal finding on first-trimester ultrasound. The most common screening marker detected within the low-risk noninvasive prenatal testing group was absent nasal bone (52/2151 [2.4%]), followed by reversed a-wave of the ductus venosus (30/2151 [1.4%]). The most common structural defect in this group was cardiac abnormality (15/2151 [0.7%]). Overall, 181 fetuses were identified as having "abnormal screening" through either a high-risk noninvasive prenatal testing result (n=65) or through a low-risk noninvasive prenatal testing result but abnormal first-trimester ultrasound (n=116). In summary, the incorporation of first-trimester ultrasound screening identified 116 additional fetuses (5.4%) that required further follow-up and surveillance than noninvasive prenatal testing alone would have identified. Detailed first-trimester ultrasound identified more fetuses with a potential abnormality than noninvasive prenatal testing alone. Therefore, first-trimester ultrasound remains a valuable screening method that should be used in combination with noninvasive prenatal testing. [ABSTRACT FROM AUTHOR]

Hypertensive disorders of pregnancy constitute one of the leading causes of maternal and perinatal mortality worldwide. It has been estimated that preeclampsia complicates 2-8% of pregnancies globally (). In Latin America and the Caribbean, hypertensive disorders are responsible for almost 26% of maternal deaths, whereas in Africa and Asia they contribute to 9% of deaths. Although maternal mortality is much lower in high-income countries than in developing countries, 16% of maternal deaths can be attributed to hypertensive disorders (). In the United States, the rate of preeclampsia increased by 25% between 1987 and 2004 (). Moreover, in comparison with women giving birth in 1980, those giving birth in 2003 were at 6.7-fold increased risk of severe preeclampsia (). This complication is costly: one study reported that in 2012 in the United States, the estimated cost of preeclampsia within the first 12 months of delivery was $2.18 billion ($1.03 billion for women and $1.15 billion for infants), which was disproportionately borne by premature births (). This Practice Bulletin will provide guidelines for the diagnosis and management of gestational hypertension and preeclampsia. [ABSTRACT FROM AUTHOR]

The aim of this review was to discuss bioethics in prenatal diagnosis and health care after recent legislative and judicial changes affecting reproductive rights, such as the repeal of 'Roe v. Wade' in the United States. We recognize that abortion involves particular moralities that are not universal or shared by all cultures, groups, and individuals. We reviewed the historical aspects of embryology and personhood, fetal morbidity and mortality, and parental options for prenatal diagnostic testing. We examined relevant ethical issues including informed consent, the emergence of fetal pain, reproductive autonomy, the fiduciary responsibilities of pregnant mothers, and the obligations of physicians caring for the maternal-fetal dyad. The code of medical ethics includes respect for decisional privacy and the protection of information shared in confidence. When a fetal anomaly is diagnosed, pregnant mothers must be informed about the risks, burdens, and alternatives in either continuing or terminating the pregnancy. Parental choice should include the right to refuse testing, the informed choice not to know about certain genetic test results, and the right to make informed decisions about the best interests of the future child. In the diagnosis and care of fetal anomalies, moral dilemmas arise. Before fetal viability, the mother's autonomy, sense of beneficence, and personal values should be trusted and respected. Perinatal palliative care should be available to pregnant mothers whose anomalous fetus is carried to birth., (© 2023 Mac Keith Press.)

Introduction: Rates of congenital syphilis cases are increasing, particularly among lower socioeconomic populations within the southern United States. Medicaid covers a significant portion of these births, which provides an opportunity to improve birth outcomes. This project sought to collect information from key stakeholders to assess facilitators of and barriers to Medicaid funding of prenatal syphilis screening and to provide insight into improving screening and lowering incidence through the Medicaid program., Methods: Seven southern states (Alabama, Georgia, Kentucky, Louisiana, North Carolina, South Carolina, and Tennessee) were identified for this assessment. Researchers conducted a legal and policy analysis for each state to gather information on factors affecting congenital syphilis prevention, identify knowledge gaps, and inform the development of interview guides. Seventeen structured interviews with 29 participants were conducted to gather information on facilitators and barriers to receiving timely prenatal syphilis screening through the Medicaid program. Interview transcripts were analyzed and compared to identify key themes., Results: Barriers to timely prenatal syphilis screening include varied laws among the states on the timing of screening, Medicaid reimbursement policies that may not adequately incentivize testing, Medicaid enrollment issues that affect both enrollment and continuity of care, and lack of clear understanding among providers on recommended testing., Conclusion: This work provides insight into systemic issues that may be affecting rates of prenatal syphilis screening and incidence among Medicaid enrollees and others in the U.S. South. To address rising congenital syphilis cases, policymakers should consider requiring third trimester syphilis screening, adopting policies to enhance access to prenatal care, adapting Medicaid payment and incentive models, and promoting collaboration between Medicaid and public health agencies., (Copyright © 2022 Jacobs Institute of Women's Health, George Washington University. All rights reserved.)

Objective: This study aimed to analyze prenatal human immunodeficiency virus (HIV) testing rates over time and describe the impact of state HIV testing laws on prenatal testing.Methods: During 2004-2011, self-reported prenatal HIV testing data for women with live births in 35 states and New York City were collected. Prevalence of testing was estimated overall and by state and year. An annual percent change was calculated in states with at least 6 years of data to analyze testing changes over time. An attorney-coder used WestlawNext to identify states with laws that direct prenatal care providers to screen all pregnant women or direct all women to be tested for HIV and document changes in laws to meet this threshold.Results: The overall prenatal HIV testing rate for 2004 through 2011 combined was 75.7%. State-level data showed a wide range of testing rates (43.2%-92.8%) for 2004 through 2011 combined. In areas with 6 years of data, 4 experienced an annual drop in testing (Alaska, Arkansas, Colorado, and Illinois). States that changed laws to meet the threshold generally had the highest testing rates, averaging 80%, followed by states with a preexisting law, at approximately 70%. States with no law, or no law meeting the threshold, had an average prenatal testing rate of 65%.Conclusions: Prenatal HIV testing remained stable between 2004 and 2011 but remained below universal recommendations. Testing varied widely across states and was generally higher in areas that changed their laws to meet the threshold or had preexisting prenatal HIV testing laws, compared with those with no or limited prenatal HIV testing language. [ABSTRACT FROM AUTHOR]

Genetic testing and spending on that testing have grown rapidly since the mapping of the human genome in 2003. However, it is not widely known how many tests there are, how they are used, and how they are paid for. Little evidence from large data sets about their use has emerged. We shed light on the issue of genetic testing by providing an overview of the testing landscape. We examined test availability and spending for the full spectrum of genetic tests, using unique data sources on test availability and commercial payer spending for privately insured populations, focusing particularly on tests measuring multiple genes in the period 2014-17. We found that there were approximately 75,000 genetic tests on the market, with about ten new tests entering the market daily. Prenatal tests accounted for the highest percentage of spending on genetic tests, and spending on hereditary cancer tests accounted for the second-highest. Our results provide insights for those interested in assessing genetic testing markets, test usage, and health policy implications, including current debates over the most appropriate regulatory and payer coverage mechanisms. [ABSTRACT FROM AUTHOR]

Preeclampsia, one of four hypertensive disorders of pregnancy, has traditionally been characterized as new-onset hypertension and proteinuria developing after 20 weeks' gestation. It is, however, now understood to be a complex, progressive, multisystem disorder with a highly variable presentation and a number of potentially life-threatening complications. The American College of Obstetricians and Gynecologists Task Force on Hypertension in Pregnancy has refined preeclampsia diagnostic criteria accordingly, and as the disorder's pathogenesis has been more clearly defined, new targets for screening, diagnosis, prevention, and treatment have emerged. This clinical update provides a review of current practice related to preeclampsia risk assessment, prediction, and management. It discusses preeclampsia pathophysiology and points readers to valuable health care resources on the topic. [ABSTRACT FROM AUTHOR]