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Frontiers in Medicine 2024Since its debut in 2011, Non-Invasive Prenatal Testing (NIPT) has continually demonstrated its effectiveness in detecting an expanding number of diseases. NIPT offers a... (Review)
Review
Since its debut in 2011, Non-Invasive Prenatal Testing (NIPT) has continually demonstrated its effectiveness in detecting an expanding number of diseases. NIPT offers a less invasive approach to prenatal chromosomal disease screening, providing prospective parents with vital information to better prepare for their potential pregnancy outcomes. NIPT was primarily designed for screening trisomy 13, 18, and 21. However, its scope has since broadened to encompass microdeletions and autosomal dominant monogenic diseases. Conversely, the normalization of NIPT can have unintended consequences. Some patients opt for NIPT without any medical indications, driven by a desire to remain cautious. This over-screening for chromosomal abnormalities can exacerbate pregnancy-related anxiety, as individuals might feel pressured into taking the test unnecessarily. While NIPT can be highly successful when conducted correctly, it is not infallible, and obstetricians play a crucial role in managing patient expectations. This includes providing genetic counseling to individuals with relevant genetic information regarding their personal and family histories. In the context of NIPT, a bioinformatics analysis is performed on a cell-free DNA (cfDNA) sample extracted from the mother's placenta to determine the fetal fraction (FF). This FF measurement is vital for quality control and ensuring statistical confidence in the test results. Raising awareness among clinicians about the significance of FF enhances patient care and alleviate concerns about the possibility of failed NIPT. This paper aims to explore the ongoing debates and more specifically the significance and pitfalls of NIPT on a psychosocial and ethical scale, all while highlighting the importance of genetic counseling.
PubMed: 38938382
DOI: 10.3389/fmed.2024.1388481 -
JACC. Advances Jun 2023Congenital heart disease (CHD) affects 8 in 1,000 live births with significant postnatal implications including growth failure, neurodevelopmental delay, and mortality....
BACKGROUND
Congenital heart disease (CHD) affects 8 in 1,000 live births with significant postnatal implications including growth failure, neurodevelopmental delay, and mortality. The placenta develops concomitantly with the fetal heart. High rates of placental pathology and discordant growth in pregnancies affected by CHD highlight the significance of the fetal-placental-cardiac axis.
OBJECTIVES
This study aimed to characterize the relationship between neonatal birthweight (BW), head circumference, placental weight (PW), and placental pathology in pregnancies affected by CHD. PW:BW provides a surrogate to assess placental efficiency, or nutrient exchange and delivery by the placenta, across CHD phenotypes.
METHODS
Retrospective cohort of 139 live-born singletons with postnatally confirmed CHD with placental pathology. Placental examination, infant BW, head circumference, and CHD categories (septal defects, right-sided defects, left-sided defects, conotruncal anomalies, and others) were included. Chi-square, Fisher's exact, or Kruskall-Wallis tests and multinomial logistic regressions, as appropriate.
RESULTS
Median birthweight and head circumference percentile was 33 and 35, respectively. Placental pathology was documented in 37% of cases. PW to BW ratios were <10th percentile for 78% and <3rd percentile for 54% of the cohort, with no difference between CHD categories ( = 0.39 and = 0.56, respectively).
CONCLUSIONS
Infants with CHD have preserved BW and head circumferences in the setting of small placentas and increased prevalence of placental pathology, suggesting placental efficiency. Detection of abnormal placental growth could add prenatal diagnostic value. Placental and neonatal discordant growth may allude to a vascular anomaly predisposing fetuses to developing CHD. Further studies are needed to explore fetal nutrient delivery and utilization efficiency.
PubMed: 38938228
DOI: 10.1016/j.jacadv.2023.100383 -
Health Technology Assessment... Jun 2024Health economic assessments are used to determine whether the resources needed to generate net benefit from an antenatal or newborn screening programme, driven by...
BACKGROUND
Health economic assessments are used to determine whether the resources needed to generate net benefit from an antenatal or newborn screening programme, driven by multiple benefits and harms, are justifiable. It is not known what benefits and harms have been adopted by economic evaluations assessing these programmes and whether they omit benefits and harms considered important to relevant stakeholders.
OBJECTIVES
(1) To identify the benefits and harms adopted by health economic assessments in this area, and to assess how they have been measured and valued; (2) to identify attributes or relevance to stakeholders that ought to be considered in future economic assessments; and (3) to make recommendations about the benefits and harms that should be considered by these studies.
DESIGN
Mixed methods combining systematic review and qualitative work.
SYSTEMATIC REVIEW METHODS
We searched the published and grey literature from January 2000 to January 2021 using all major electronic databases. Economic evaluations of an antenatal or newborn screening programme in one or more Organisation for Economic Co-operation and Development countries were considered eligible. Reporting quality was assessed using the Consolidated Health Economic Evaluation Reporting Standards checklist. We identified benefits and harms using an integrative descriptive analysis and constructed a thematic framework.
QUALITATIVE METHODS
We conducted a meta-ethnography of the existing literature on newborn screening experiences, a secondary analysis of existing individual interviews related to antenatal or newborn screening or living with screened-for conditions, and a thematic analysis of primary data collected with stakeholders about their experiences with screening.
RESULTS
The literature searches identified 52,244 articles and reports, and 336 unique studies were included. Thematic framework resulted in seven themes: (1) diagnosis of screened for condition, (2) life-years and health status adjustments, (3) treatment, (4) long-term costs, (5) overdiagnosis, (6) pregnancy loss and (7) spillover effects on family members. Diagnosis of screened-for condition (115, 47.5%), life-years and health status adjustments (90, 37.2%) and treatment (88, 36.4%) accounted for most of the benefits and harms evaluating antenatal screening. The same themes accounted for most of the benefits and harms included in studies assessing newborn screening. Long-term costs, overdiagnosis and spillover effects tended to be ignored. The wide-reaching family implications of screening were considered important to stakeholders. We observed good overlap between the thematic framework and the qualitative evidence.
LIMITATIONS
Dual data extraction within the systematic literature review was not feasible due to the large number of studies included. It was difficult to recruit healthcare professionals in the stakeholder's interviews.
CONCLUSIONS
There is no consistency in the selection of benefits and harms used in health economic assessments in this area, suggesting that additional methods guidance is needed. Our proposed thematic framework can be used to guide the development of future health economic assessments evaluating antenatal and newborn screening programmes.
STUDY REGISTRATION
This study is registered as PROSPERO CRD42020165236.
FUNDING
This award was funded by the National Institute for Health and Care Research (NIHR) Health Technology Assessment programme (NIHR award ref: NIHR127489) and is published in full in ; Vol. 28, No. 25. See the NIHR Funding and Awards website for further award information.
Topics: Humans; Infant, Newborn; Neonatal Screening; Cost-Benefit Analysis; Female; Pregnancy; Qualitative Research; Technology Assessment, Biomedical; Prenatal Diagnosis; Quality-Adjusted Life Years
PubMed: 38938110
DOI: 10.3310/PYTK6591 -
BMC Women's Health Jun 2024The nutritional status of the mothers before pregnancy and the weights gained during pregnancy are very crucial factors affecting the pregnancy outcomes and health of...
BACKGROUND
The nutritional status of the mothers before pregnancy and the weights gained during pregnancy are very crucial factors affecting the pregnancy outcomes and health of the infants. This study aimed to assess early pregnancy weight, determine the magnitude of gestational weight gain, and investigate the factors affecting gestational weight gain among pregnant women in the Gurage zone, 2022.
METHODS
A prospective cohort study was conducted among pregnant women who started antenatal care follow-up before the 16th week of gestation in the selected hospitals and health centers of the Gurage zone, Ethiopia. The gestational weight gain was obtained by subtracting the early pregnancy weight from the last pregnancy weight and categorizing based on the Institute of Medicine (IOM) recommendation.
RESULTS
The early pregnancy weight status of the women at enrollment indicates that 10% of them were underweight and 83% of them had normal weight. On average, the study participants gained 13.3 kgs of weight with [95% CI: 13.0, 13.6]. More than half (56%) of them gained adequate weight, a quarter (26%) of them gained inadequate weight, and 18% of them gained excess weight during pregnancy compared to the IOM recommendation. Maternal age, occupational status, and early pregnancy weight status were found to have a statistically significant association with the gestational weight gained.
CONCLUSION
Almost half (44%) of the pregnant women gained either inadequate or excess weight during pregnancy. Promoting gestational weight gain within recommended guidelines should be emphasized for younger, employed women and those who are either underweight or overweight.
Topics: Humans; Female; Pregnancy; Ethiopia; Gestational Weight Gain; Adult; Prospective Studies; Young Adult; Cohort Studies; Thinness; Prenatal Care; Body Mass Index; Nutritional Status; Pregnancy Complications; Adolescent; Pregnant Women; Maternal Age
PubMed: 38937766
DOI: 10.1186/s12905-024-03223-8 -
BMC Medical Genomics Jun 2024TTN is a complex gene with large genomic size and highly repetitive structure. Pathogenic variants in TTN have been reported to cause a range of skeletal muscle and...
BACKGROUND
TTN is a complex gene with large genomic size and highly repetitive structure. Pathogenic variants in TTN have been reported to cause a range of skeletal muscle and cardiac disorders. Homozygous or compound heterozygous mutations tend to cause a wide spectrum of phenotypes with congenital or childhood onset. The onset and severity of the features were considered to be correlated with the types and location of the TTN variants.
METHODS
Whole-exome sequencing was performed on three unrelated families presenting with fetal akinesia deformation sequence (FADS), mainly characterized by reduced fetal movements and limb contractures. Sanger sequencing was performed to confirm the variants. RT-PCR analysis was performed.
RESULTS
TTN c.38,876-2 A > C, a meta transcript-only variant, with a second pathogenic or likely pathogenic variant in trans, was observed in five affected fetuses from the three families. Sanger sequencing showed that all the fetal variants were inherited from the parents. RT-PCR analysis showed two kinds of abnormal splicing, including intron 199 extension and skipping of 8 bases.
CONCLUSIONS
Here we report on three unrelated families presenting with FADS caused by four TTN variants. In addition, our study demonstrates that pathogenic meta transcript-only TTN variant can lead to defects which is recognizable prenatally in a recessive manner.
Topics: Humans; Female; Connectin; Pedigree; Male; Exome Sequencing; Arthrogryposis; Contracture; Mutation; Pregnancy; Fetus; Adult
PubMed: 38937733
DOI: 10.1186/s12920-024-01946-z -
BMC Surgery Jun 2024Although many prognostic factors in neonates with congenital diaphragmatic hernia (CDH) have been described, no consensus thus far has been reached on which and how many...
OBJECTIVES
Although many prognostic factors in neonates with congenital diaphragmatic hernia (CDH) have been described, no consensus thus far has been reached on which and how many factors are involved. The aim of this study is to analyze the association of multiple prenatal and postnatal factors with 1-month mortality of neonates with CDH and to construct a nomogram prediction model based on significant factors.
METHODS
A retrospective analysis of neonates with CDH at our center from 2013 to 2022 was conducted. The primary outcome was 1-month mortality. All study variables were obtained either prenatally or on the first day of life. Risk for 1-month mortality of CDH was quantified by odds ratio (OR) with 95% confidence interval (CI) in multivariable logistic regression models.
RESULTS
After graded multivariable adjustment, six factors were found to be independently and consistently associated with the significant risk of 1-month mortality in neonates with CDH, including gestational age of prenatal diagnosis (OR, 95% CI, P value: 0.845, 0.772 to 0.925, < 0.001), observed-to-expected lung-to-head ratio (0.907, 0.873 to 0.943, < 0.001), liver herniation (3.226, 1.361 to 7.648, 0.008), severity of pulmonary hypertension (6.170, 2.678 to 14.217, < 0.001), diameter of defect (1.560, 1.084 to 2.245, 0.017), and oxygen index (6.298, 3.383 to 11.724, < 0.001). Based on six significant factors identified, a nomogram model was constructed to predict the risk for 1-month mortality in neonates with CDH, and this model had decent prediction accuracy as reflected by the C-index of 94.42%.
CONCLUSIONS
Our findings provide evidence for the association of six preoperational and intraoperative factors with the risk of 1-month mortality in neonates with CDH, and this association was reinforced in a nomogram model.
Topics: Humans; Hernias, Diaphragmatic, Congenital; Nomograms; Infant, Newborn; Retrospective Studies; Female; Male; Prognosis; Gestational Age; Infant Mortality; Risk Factors; Risk Assessment
PubMed: 38937726
DOI: 10.1186/s12893-024-02479-z -
Pediatric Research Jun 2024Prenatal diagnoses of congenital malformations have increased significantly in recent years with use of high-resolution prenatal imaging. Despite more precise... (Review)
Review
Prenatal diagnoses of congenital malformations have increased significantly in recent years with use of high-resolution prenatal imaging. Despite more precise radiological diagnoses, discussions with expectant parents remain challenging because congenital malformations are associated with a wide spectrum of outcomes. Comprehensive prenatal genetic testing has become an essential tool that improves the accuracy of prognostication. Testing strategies include chromosomal microarray, exome sequencing, and genome sequencing. The diagnostic yield varies depending on the specific malformations, severity of the abnormalities, and multi-organ involvement. The utility of prenatal genetic diagnosis includes increased diagnostic clarity for clinicians and families, informed pregnancy decision-making, neonatal care planning, and reproductive planning. Turnaround time for results of comprehensive genetic testing remains a barrier, especially for parents that are decision-making, although this has improved over time. Uncertainty inherent to many genetic testing results is a challenge. Appropriate genetic counseling is essential for parents to understand the diagnosis and prognosis and to make informed decisions. Recent research has investigated the yield of exome or genome sequencing in structurally normal fetuses, both with non-invasive screening methods and invasive diagnostic testing; the prenatal diagnostic community must evaluate and analyze the significant ethical considerations associated with this practice prior to generalizing its use. IMPACT: Reviews available genetic testing options during the prenatal period in detail. Discusses the impact of prenatal genetic testing on care using case-based examples. Consolidates the current literature on the yield of genetic testing for prenatal diagnosis of congenital malformations.
PubMed: 38937640
DOI: 10.1038/s41390-024-03343-9 -
Journal of Racial and Ethnic Health... Jun 2024Social determinants of health have been used to explore associations with pregnancy outcomes and the birth weight of infants; however, research employing individually...
Social determinants of health have been used to explore associations with pregnancy outcomes and the birth weight of infants; however, research employing individually based social risk measures has not examined associations among underserved populations, including pregnant persons at community health centers. Data were collected from a sample (n = 345) of pregnant persons who sought care at a community health center between January 2019 and December 2020. Social risks of pregnant patients were measured using the PRAPARE tool. First, associations between patients' social risks and trimester in which they initiated care were assessed using ANOVAs, grouping social risk by PRAPARE social determinant domains (persona characteristics, family and home, money and resources, and social and emotional health). ANOVAs were stratified by ethnicity. Next, a multivariate logistic regression examined associations between social measures and seeking care after the first trimester. Patients who sought care in the first trimester reported more financial needs than those who sought care in the second (p = .02) or the third (p = .049). Hispanic patients who sought care in the first trimester reported more monetary needs than those who sought care in the second trimester (p = .048), and non-Hispanic patients who sought care in the first trimester reported greater family and home needs than those who sought care in the second trimester (p = .47). Those who experienced stress were 3.07 times as likely to seek care after the first trimester as those who reported no stress. CHC may reduce social risk among poor and underserved communities by reducing barriers to access to care.
PubMed: 38935333
DOI: 10.1007/s40615-024-02052-7 -
Indian Journal of Public Health Oct 2023A major group of the population, especially antenatal checkup (ANC) mothers and their spouses, people admitted for surgery, and people attending STI clinics, are...
BACKGROUND
A major group of the population, especially antenatal checkup (ANC) mothers and their spouses, people admitted for surgery, and people attending STI clinics, are reluctant to pretest counseling.
OBJECTIVES
This study has been taken up to explore the barriers and possible solutions to improve the utilization of Facility based integrated counseling and testing center (F-ICTC) counseling services.
MATERIALS AND METHODS
Phase 1: In-depth interview and ranking with stakeholders from the F-ICTC center (n = 13) were conducted to identify the barriers to utilization of F-ICTC and solution for the same. Phase 2.
A
Delphi panel with experts (n = 17) was invited through mail to find out the potential solution to improve the utilization of F-ICTC counseling services.
RESULTS
Possible barriers from the stakeholders' perspectives were fear of the disease, violate the privacy, unacceptance, gender bias, fear of social stigma and discrimination, and neglect attached to the disease. At third round of Delphi experts had arrived at a consensus regarding of following possible potential solutions: 1. Those who refuse pretest counseling they should be asked to answer a set of questions(which are usually told during counseling), only those questions not answered correctly by them can be corrected, 2.conducive hospital environment, 3.zero discrimination policy, 4. group counseling for ANC mothers and patients in waiting area of the hospital,5. phone counseling for unwilling patients and relocation of testing center and health education camping.
CONCLUSION
Context-specific proactive evidence-based intervention will help in improving the proper utilization of the F-ICTC center.
Topics: Humans; Delphi Technique; Female; Counseling; Prenatal Care; Male; Pregnancy; Adult; India; Social Stigma; Interviews as Topic; Patient Acceptance of Health Care
PubMed: 38934833
DOI: 10.4103/ijph.ijph_1529_22