Maternal Age Research Articles

Dynamic changes in place-based measures of structural racism and preterm birth in the USA

BackgroundStructurally racist systems, ideologies and processes generate and reinforce inequities among minoritised racial/ethnic groups. Prior cross-sectional literature finds that place-based structural racism, such as the Index of Concentration at the...

Prenatal mercury exposure and the secondary sex ratio: The Japan Environment and Children's Study

Prior research into the association between prenatal mercury (Hg) exposure and the secondary sex ratio has yielded inconclusive and conflicting results. Notably, no study has used cord blood Hg measurement in this context. Also, the differences in Hg species and the potential modifying role of selenium (Se) on this association remain unexplored. Using data from the Japan Environment and Children's Study, we analyzed mother–child pairs with available data for concentrations of total mercury (THg) and Se in maternal blood during late pregnancy, and THg, inorganic mercury (IHg), methylmercury (MeHg), and Se in cord blood. Logistic regression models were employed to examine the association between Hg and Se biomarkers and the secondary sex ratio. Out of the total sample of 3698 children, 1877 (50.8 %) were male, corresponding to an overall secondary sex ratio of 1.03. After adjusting for maternal age and parity, no significant associations were observed between THg concentrations of maternal blood and the secondary sex ratio. Nevertheless, we identified that two-fold increases in THg, IHg, and MeHg concentrations in cord blood were positively associated with increased odds of having a male child, yielding adjusted odds ratios of 1.13 (95 %CI: 1.04, 1.22), 1.12 (1.03, 1.21), and 1.12 (1.03, 1.22), respectively. When stratified by the median Se concentrations, no apparent differences were detected in the associations between Hg concentrations and the secondary sex ratio. In summary, elevated Hg concentrations in cord blood, but not maternal blood, were associated with an increased probability of male births.

Genetic and Clinical Factors Influencing Congenital Anomalies of the Kidney and Urinary Tract in Children: Insights from Prenatal and Postnatal Assessments.

Congenital anomalies of the kidney and urinary tract (CAKUT) significantly contribute to pediatric morbidity, often necessitating ureterorenal surgery. This study explored the relationship between genetic mutations, renal surgery requirements, and prenatal, postnatal, and parental risk factors in children with CAKUT. A retrospective analysis of 651 children diagnosed with CAKUT included patient demographics, parental risk factors, ultrasound findings, genetic mutations, and surgical incidence. Antenatal ultrasounds showed normal findings in 32.1%, hydronephrosis in 46.9%, and other abnormalities in 21% of cases. Surgical intervention correlated with higher hydronephrosis reduction than non-intervention. Genetic mutations were identified in 5.4% of cases, with 24.6% requiring surgery. Low neonatal birth weight (odds ratio [OR] = 0.98, p < 0.001), advanced maternal age (OR = 1.06, p < 0.001), and postnatal abnormal ultrasound findings (OR = 2.62, p < 0.001) were associated with increased genetic mutation risks. Antenatal hydronephrosis (OR = 3.85, p < 0.001) and postnatal urinary tract infections (OR = 4.85, p < 0.001) increased the likelihood of surgical intervention. Neonatal birth weight, maternal age, and postnatal ultrasound findings were identified as independent risk factors for genetic mutations, while no significant link was found between these genetic factors and the need for surgery. Surgical needs were associated with urinary tract infections and antenatal hydronephrosis, indicating that timely surgical intervention may benefit these patients.

Time in therapeutic range and risk of preeclampsia in chronic hypertensive pregnant women.

Pregnancy Hypertensive Disorders (PHD), particularly Preeclampsia (PE), are significant contributors to maternal-fetal morbidity and mortality, with chronic arterial hypertension (CH) being a major risk factor. The prevalence of CH has risen alongside obesity and advanced maternal age. While antihypertensive treatment mitigates adverse pregnancy outcomes, the duration of effective blood pressure (BP) control, termed Time in Therapeutic Range (TTR), has not been extensively studied in pregnant women. TTR, reflecting the proportion of time BP remains within target ranges, predicts long-term cardiovascular and renal events in the general population but remains unexplored in pregnancy. This study investigates the association between TTR, assessed through office BP (OBP) and ambulatory BP monitoring (ABPM), and PE development in pregnant women with CH. In a retrospective longitudinal study, data from 166 pregnant women with HA referred to our hospital analyzed. BP was measured using OBP and ABPM from 10 weeks of gestation, with TTR calculated as the percentage of visits where BP remained within target ranges. The study defined four TTR control groups: 0%, 33%, 50-66%, and 100%. Results showed that 28% of the participants developed PE, with a higher incidence correlating with lower TTR in ABPM. TTR in ABPM was a significant predictor of PE risk, with the best-controlled group (100% TTR) demonstrating a 92% reduced risk compared to those with 0% TTR. The agreement between OBP and ABPM TTR was low, emphasizing the importance of ABPM for accurate BP monitoring in pregnancy. This study indicates that integrating ABPM for TTR assessment in high-risk pregnancies has the potential to reduce maternal and fetal complications.

Factors affecting biochemical pregnancy loss (BPL) in preimplantation genetic testing for aneuploidy (PGT-A) cycles: machine learning-assisted identification

PurposeTo determine the factors influencing the likelihood of biochemical pregnancy loss (BPL) after transfer of a euploid embryo from preimplantation genetic testing for aneuploidy (PGT-A) cycles.MethodsThe study employed an observational, retrospective cohort design, encompassing 6020 embryos from 2879 PGT-A cycles conducted between February 2013 and September 2021. Trophectoderm biopsies in day 5 (D5) or day 6 (D6) blastocysts were analyzed by next generation sequencing (NGS). Only single embryo transfers (SET) were considered, totaling 1161 transfers. Of these, 49.9% resulted in positive pregnancy tests, with 18.3% experiencing BPL. To establish a predictive model for BPL, both classical statistical methods and five different supervised classification machine learning algorithms were used. A total of forty-seven factors were incorporated as predictor variables in the machine learning models.ResultsThroughout the optimization process for each model, various performance metrics were computed. Random Forest model emerged as the best model, boasting the highest area under the ROC curve (AUC) value of 0.913, alongside an accuracy of 0.830, positive predictive value of 0.857, and negative predictive value of 0.807. For the selected model, SHAP (SHapley Additive exPlanations) values were determined for each of the variables to establish which had the best predictive ability. Notably, variables pertaining to embryo biopsy demonstrated the greatest predictive capacity, followed by factors associated with ovarian stimulation (COS), maternal age, and paternal age.ConclusionsThe Random Forest model had a higher predictive power for identifying BPL occurrences in PGT-A cycles. Specifically, variables associated with the embryo biopsy procedure (biopsy day, number of biopsied embryos, and number of biopsied cells) and ovarian stimulation (number of oocytes retrieved and duration of stimulation), exhibited the strongest predictive power.

Associations between exposure to extreme ambient heat and neural tube defects in Georgia, USA: A population-based case-control study

IntroductionThe association between extreme ambient heat exposures during pregnancy and neural tube defects (NTDs) in offspring remains unclear. This study sought to estimate the association between exposure to extreme ambient heat during periconception and NTDs. MethodsThis population-based case-control study in Georgia, USA (1994–2017) included 825 isolated NTD cases (473 anencephaly, 352 spina bifida) and 3,300 controls matched 1:4 on county of residence and time period of delivery. Daily ambient temperature data were linked to fetal death and birth records by county of residence. Extreme ambient heat exposure was defined as the number of consecutive days the daily apparent temperature exceeded the county-specific 95th percentile (derived over 1980–2010) during an eight-week periconception period. We calculated adjusted odds ratios (aORs) and 95% confidence intervals (CI) using conditional logistic regression models adjusted for maternal age, education, and ethnicity and month and year of last menstrual period. ResultsThe aORs for NTDs were 1.09 (95% CI 1.01, 1.17), 1.18 (95% CI 1.03, 1.36), and 1.29 (95% CI 1.04, 1.58) for exposure to 1–2, 3–5, and 6 or more consecutive days with apparent ambient temperatures exceeding the county-specific 95th percentile during periconception, respectively, compared to no days of extreme ambient heat exposure. Weekly analysis of extreme heat exposure indicated consistently elevated odds of offspring NTDs during periconception. These results were largely driven by spina bifida cases. ConclusionsOur results highlight potential health threats posed by increasing global average temperatures for pregnant people with implications for increased risk of neural tube defects in their offspring.

The activation of cGAS-STING pathway causes abnormal uterine receptivity in aged mice.

Maternal age is one of the most important factors affecting the success of maternal pregnancy. Uterine aging is the leading cause of pregnancy failure in older women. However, how uterine aging affects uterine receptivity and decidualization is unclear. In this study, naturally aged one-year-old female mice were used to investigate effects of maternal age on embryo implantation during early pregnancy. In our study, we found abnormal uterine receptivity in aged mice. Aged mouse uterus indicates a decrease in nuclear LAMIN A, and an increase in PRELAMIN A and PROGERIN. In aged mouse uterus, double-stranded DNA (dsDNA) in cytoplasmic fraction is significantly increased. PROGERIN overexpression in mouse uterine epithelial cells and epithelial organoids leads to nuclear DNA leakage and impaired uterine receptivity. DNase I, DNase II, and TREX1 are obviously reduced in aged mouse uterus. Treatments with foreign DNA or STING agonist significantly downregulate uterine receptivity markers and activate cGAS-STING pathway. Uterine estrogen (E2) concentration is significantly increased in aged mice. After ovariectomized mice are treated with a high level of E2, there are significant increase of PROGERIN and cytoplasmic DNA, and activation of cGAS-STING pathway. CD14 is significantly increased in aged uterus. Intrauterine CD14 injection inhibits embryo implantation. Invitro CD14 treatment of cultured epithelial cells or epithelial organoids decreases uterine receptivity. Uterine abnormality in aged mouse can be partially rescued by STING inhibitor. In conclusion, uterine PROGERIN increase in aged mouse uterus results in cytoplasmic DNA accumulation and cGAS-STING pathway activation. CD14 secretion in aged uterus impairs uterine receptivity.

The Quality of Life in Patients with Familial Mediterranean Fever and Their Parents Perception.

Familial Mediterranean fever (FMF) is a chronic disease characterized by recurrent episodes of fever and polyserositis. This study aimed to assess children's quality of life (QoL), as reported by children and their parents, and to compare the results according to clinical variables. The study examined 107 children with FMF, evaluating their demographic and genetic data, utilizing the Pediatric Quality of Life Inventory (PedsQL) to assess QoL, and comparing scores based on disease severity. The severity of FMF is inversely correlated with QoL scores, with mild cases having the highest scores (97±4), followed by moderate (76±11) and severe cases (52±10.3) (p<0,001). Disease severity, treatment adherence, healthcare utilization, genetic mutations, family income, and maternal age at birth all significantly impact perceived quality of life in FMF patients (p<0,001). Additionally, parents reported lower QoL for children with FMF who experienced various adverse factors such as low family income, household smoking, frequent attacks, hospitalizations, irregular medication use, and low maternal education levels (p<0,001). Children's daily activities, academic performance, and family functioning are all significantly impacted by FMF. Physicians caring for patients with FMF should be aware of the QoL changes in the management of these patients. As a result, medical therapy, patient education, and indicators of psychological and social support can all be offered more effectively.

Multilevel modelling of the determinants of low birth weight in frontier, outermost and underdeveloped regions: Evidence from the Indonesian National Socioeconomic Survey (2019–2021)

BackgroundThe prevalence of low-birthweight infants is increasing in Indonesia. A low birth weight can have a negative effect on a child's development. Understanding the factors influencing low birth weight may enable preventative actions. AimTo analyse the determinant factors of low-birthweight infants in frontier, outermost and underdeveloped regions in Indonesia. MethodsA cross-sectional study was conducted using a secondary dataset from the Indonesian National Socioeconomic Survey, 2019–2021. The sample included 27,678 inhabitants aged 16–64 years. The Indonesian regions of Nusa Tenggara Timur, Nusa Tenggara Barat, Sulawesi Tengah, Sulawesi Tenggara, Gorontalo, Maluku, Maluku Utara, Papua and Papua Barat were included. A multilevel logistic regression was conducted to determine the relationship between variables. p < 0.05 was considered to indicate significance in the fixed-effects model findings. FindingsWomen who lived in a rural area [OR 1.176, 95 % confidence interval (CI) 0.088–0.235] and had never used contraception (OR 1.227, 95 % CI 0.096–0.313) were more likely to have low-birthweight infants. In contrast, water resources, social assistance/welfare, maternal age and gross domestic product per capita had no significant effect on the prevalence of low-birthweight infants. Discussion and conclusionLiving in a rural area and lifetime non-use of contraception were found to be significant risk factors for low birth weight in frontier, outermost and underdeveloped regions in Indonesia. Increasing health facilities in rural areas and establishing programmes on the use of contraception may be positive strategies to reduce the prevalence of low-birthweight infants.

A familial, telomere-to-telomere reference for human de novo mutation and recombination from a four-generation pedigree.

Using five complementary short- and long-read sequencing technologies, we phased and assembled >95% of each diploid human genome in a four-generation, 28-member family (CEPH 1463) allowing us to systematically assess de novo mutations (DNMs) and recombination. From this family, we estimate an average of 192 DNMs per generation, including 75.5 de novo single-nucleotide variants (SNVs), 7.4 non-tandem repeat indels, 79.6 de novo indels or structural variants (SVs) originating from tandem repeats, 7.7 centromeric de novo SVs and SNVs, and 12.4 de novo Y chromosome events per generation. STRs and VNTRs are the most mutable with 32 loci exhibiting recurrent mutation through the generations. We accurately assemble 288 centromeres and six Y chromosomes across the generations, documenting de novo SVs, and demonstrate that the DNM rate varies by an order of magnitude depending on repeat content, length, and sequence identity. We show a strong paternal bias (75-81%) for all forms of germline DNM, yet we estimate that 17% of de novo SNVs are postzygotic in origin with no paternal bias. We place all this variation in the context of a high-resolution recombination map (~3.5 kbp breakpoint resolution). We observe a strong maternal recombination bias (1.36 maternal:paternal ratio) with a consistent reduction in the number of crossovers with increasing paternal (r=0.85) and maternal (r=0.65) age. However, we observe no correlation between meiotic crossover locations and de novo SVs, arguing against non-allelic homologous recombination as a predominant mechanism. The use of multiple orthogonal technologies, near-telomere-to-telomere phased genome assemblies, and a multi-generation family to assess transmission has created the most comprehensive, publicly available "truth set" of all classes of genomic variants. The resource can be used to test and benchmark new algorithms and technologies to understand the most fundamental processes underlying human genetic variation.

Down syndrome and associated atrioventricular septal defects in a nationwide Norwegian cohort: Prevalence, time trends, and outcomes.

The prevalence of Down syndrome (DS) is approximately 1 per 1000 births and is influenced by increasing maternal age over the last few decades. DS is strongly associated with congenital heart defects (CHDs), especially atrioventricular septal defect (AVSD). Our objectives were to investigate the prevalence of live-born infants with DS having a severe CHD in the Norwegian population over the last 20 years and compare outcomes in infants with AVSD with and without DS. Information on all births from January 1, 2000 to December 31, 2019 was obtained from the Medical Birth Registry of Norway. We also obtained data on all infants with severe CHDs in Norway registered in Oslo University Hospital's Clinical Registry for Congenital Heart Defects during 2000-2019 and accessed individual-level patient data from the electronic hospital records of selected cases. Infants with AVSD and DS were compared to infants with AVSD without chromosomal defects. Crude and adjusted odds ratios (ORs) of infant mortality and need for surgery during the first year of life, with associated 95% confidence intervals (CIs), were estimated by logistic regression. A total of 1 177 926 infants were live-born in Norway during the study period. Among these, 1456 (0.1%) had DS. The prevalence of infants with DS having a severe CHDs was relatively stable, with a mean of 17 cases per year. The most common CHD associated with DS was AVSD (44.4%). Infants with AVSD and DS were more likely to have cardiac intervention during their first year of life compared to infants with AVSD without chromosomal defects (adjusted OR [aOR]: 2.52; 95% CI 1.27, 4.98). However, we observed no difference in infant mortality during first year of life between the two groups (aOR: 1.08; 95% CI 0.43, 2.70). The prevalence of live-born infants with severe CHDs and DS has been stable in Norway across 20 years. Infants with AVSD and DS did not have higher risk of mortality during their first year of life compared to infants with AVSD without chromosomal defects, despite a higher risk of operative intervention.

Naturally occurring horse model of miscarriage reveals temporal relationship between chromosomal aberration type and point of lethality

Chromosomal abnormalities are a common cause of human miscarriage but rarely reported in any other species. As a result, there are currently inadequate animal models available to study this condition. Horses present one potential model since mares receive intense gynecological care. This allowed us to investigate the prevalence of chromosomal copy number aberrations in 256 products of conception (POC) in a naturally occurring model of pregnancy loss (PL). Triploidy (three haploid sets of chromosomes) was the most common aberration, found in 42% of POCs following PL over the embryonic period. Over the same period, trisomies and monosomies were identified in 11.6% of POCs and subchromosomal aberrations in 4.2%. Whole and subchromosomal aberrations involved 17 autosomes, with chromosomes 3, 4, and 20 having the highest number of aberrations. Triploid fetuses had clear gross developmental anomalies of the brain. Collectively, data demonstrate that alterations in chromosome number contribute to PL similarly in women and mares, with triploidy the dominant ploidy type over the key period of organogenesis. These findings, along with highly conserved synteny between human and horse chromosomes, similar gestation lengths, and the shared single greatest risk for PL being advancing maternal age, provide strong evidence for the first animal model to truly recapitulate many key features of human miscarriage arising due to chromosomal aberrations, with shared benefits for humans and equids.

Gestational diabetes mellitus and the hearing of newborns:A nested case-control study in tropical province of China

ObjectiveThis study aims to determine the association of gestational diabetes mellitus (GDM) and the results of newborn hearing screening(NHS). MethodsA nested case-control study was conducted in a cohort of newborns who were born between June 2021 to December 2021 and underwent neonatal hearing screening.GDM was diagnosed according to the 75 g 2 h oral glucose tolerance test (OGTT) at 24–28 gestational weeks.A total of 369 pregnant women at the same hospital were individually matched in a 1:2 ratio by maternal age (±2 years), gestational age (±3 days) and sex of newborn.Chi-square test was utilized to evaluate associations between GDM and the results of NHS. ResultsAbnormal NHS results in the GDM group was more frequent than non-GDM group.When comparing the two groups (GDM case and contol), we found significant differences (p < 0.05) between them.Whereas the difference was not statistically significant (p > 0.05) by delivery modes in both case and control groups. ConclusionMaternal history of GDM could lead to significantly higher failling rate of NHS.

Changes in Maternal Socio-Demographic Characteristics and Pregnancy Outcomes Across Monitoring Regions - Six Provinces, China, 2016-2022.

In recent years, there has been a significant increase in the proportion of women of advanced maternal age (AMA), accompanied by a rise in adverse pregnancy outcomes in certain regions of China. From 2016 to 2022, there was an observed increase in the proportion of AMA, educational levels, and incidences of preterm birth and low birth weight (LBW) in both primiparous and multiparous women. Concurrently, there was a declining trend in the rate of cesarean deliveries and the incidence of macrosomia among multiparous women. In addition to focusing on health management for AMA individuals, proactive steps should be undertaken to enhance the quality of medical services and promote childbirth at optimal ages, thereby reducing the incidence of adverse pregnancy outcomes.

Reproductive Characteristics and Trends of Major Pregnancy Outcomes of Women at Different Parities - Beijing Municipality, China, 2013-2022.

With socioeconomic development, the increase of older pregnancies and multiparas has brought risks to mothers and infants. As parities increased, the proportion of women of advanced maternal age (AMA) and non-local domicile increased, while the proportion of women with higher education levels decreased. Women with ≥3 parities are more likely to have preterm birth (PTB) and macrosomia. A comprehensive analysis of pregnancy traits among women at different parities offers a robust foundation for tailored strategies against adverse pregnancy outcomes.

Maternal hypothyroidism and the risk of preeclampsia: a Danish national and regional study

BackgroundMaternal hypothyroidism in pregnancy has been proposed to increase the risk of preeclampsia, but uncertainties persist regarding the underlying causal mechanisms. Thus, it remains unclear if an increased risk of preeclampsia in hypothyroid pregnant women is caused by the lack of thyroid hormones or by the autoimmunity per se.MethodsWe conducted a retrospective study of two pregnancy cohorts in the Danish population. The nationwide cohort (n = 1,014,775) was register-based and included all singleton pregnancies in Denmark from 1999–2015. The regional cohort (n = 14,573) included the biochemical measurement of thyroid stimulating hormone (TSH), thyroid peroxidase antibodies (TPO-Ab), and thyroglobulin antibodies (Tg-Ab) (ADVIA Centaur XPT, Siemens Healthineers) among pregnant women in The North Denmark Region from 2011–2015 who had a blood sample drawn in early pregnancy as part of routine prenatal screening for chromosomal anomalies. The associations between diagnosed and biochemically assessed hypothyroidism and a diagnosis of preeclampsia were evaluated using logistic regression (adjusted odds ratio (aOR) with 95% confidence interval (CI)) adjusting for potential confounders, such as maternal age, diabetes, and parity.ResultsIn the nationwide cohort, 2.2% of pregnant women with no history of hypothyroidism (reference group (ref.)) were diagnosed with preeclampsia, whereas the prevalence was 3.0% among pregnant women with hypothyroidism (aOR 1.3 (95% CI: 1.2–1.4)) and 4.2% among women with newly diagnosed hypothyroidism in the pregnancy (aOR 1.6 (95% CI: 1.3–2.0)). In the regional cohort, 2.3% of women with early pregnancy TSH < 2.5 mIU/L (ref.) were diagnosed with preeclampsia. Among women with TSH ≥ 6 mIU/L, the prevalence was 6.2% (aOR 2.4 (95% CI: 1.1–5.3)). Considering thyroid autoimmunity, preeclampsia was diagnosed in 2.2% of women positive for TPO-Ab (> 60 U/mL) or Tg-Ab (> 33 U/mL) in early pregnancy (aOR 0.86 (95% CI: 0.6–1.2)).ConclusionsIn two large cohorts of Danish pregnant women, maternal hypothyroidism was consistently associated with a higher risk of preeclampsia. Biochemical assessment of maternal thyroid function revealed that the severity of hypothyroidism was important. Furthermore, results did not support an association between thyroid autoimmunity per se and preeclampsia.

Trends in the Incidence of High-Risk Newborns Based on a New Conceptual Framework - Beijing Municipality, China, 2013-2022.

A new conceptual term, small and vulnerable newborns (SVN), bringing preterm birth, small for gestational age (SGA), or low birth weight (LBW) together is being advocated for assessing whether a child is at high risk. According to the new conceptual term, the increasing incidence of high-risk newborns (from 9.82% to 10.96%) has been observed among 2,005,408 newborns over the period from 2013 to 2022, which is higher than using any of the three definitions of SVN. Maternal age ≥35, primiparity, and multiple births are high risks for SVN. The new conceptual framework should be used to better assess the number of high-risk newborns. Attention should be paid to multiple births to prevent preterm-related SVN. To reduce term newborns who are SGA, we need to be concerned not only with multiple pregnancies but also with first-time mothers.

Maternal mental health, marital adjustment, and family support in the grieving process after a pregnancy loss

Pregnancy loss can have a profound impact on a woman’s psychological and emotional health often leading to a grieving process. Furthermore, the loss of a child is a risk factor for Prolonged Grief Disorder (PGD) according to the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition-Text Revision (DSM-5-TR). This cross-sectional study investigated the associations between mental health, marital adjustment, family support, gestational age, and prolonged grief. We recruited 93 women who had lost a pregnancy and had a living child born after the loss. Maternal mental health and gestational age at the time of loss were the variables most correlated with prolonged grief symptoms. A network model further confirmed the results and highlighted the importance of adopting a systemic and interactive approach to these and the other variables of interest related to pregnancy loss. Raising awareness regarding mental healthcare and support networks for mothers after pregnancy loss is essential.

Chromosomal analysis in pregnant women of advanced maternal age: indications for prenatal diagnosis.

The demographic of women of advanced maternal age (AMA), defined as those over 35 years, is expanding in response to the liberalization of China's three-child policy. A significant proportion of these women are electing to undergo noninvasive prenatal testing (NIPT). Nonetheless, next-generation sequencing (NGS) is the recommended method for prenatal screening among women of AMA in the world. Consequently, the decision between opting for NIPT or NGS has emerged as topic of considerable debate and interest within the medical community. The objective was to explore which prenatal screening and diagnosis is suitable for women of AMA with different comorbidities. In this retrospective study, 326 pregnant women with AMA were divided into 9 groups to investigate clinically significant copy number variation (CNV) in different amniocentesis indications by amniocentesis and NGS. Clinically significant chromosomal abnormalities were identified in 84 cases (25.8%). Among the 119 detected segmental imbalances, 16 cases (13.4%) exhibited pathogenic or likely pathogenic microdeletions or micro-duplications. The incidence of pathogenic or likely pathogenic CNVs was significantly higher in the AMA with soft ultrasound markers group compared to the general AMA group (11.5% vs. 1.1%; P=0.016). Additionally, the incidence of pathogenic or likely pathogenic CNVs was significantly higher in the AMA with NIPT group compared to the general AMA group (48.7% vs. 1.1%; P<0.001). The incorporation of soft ultrasound markers and NIPT significantly enhanced the detection rate of clinically significant CNVs in women of AMA by 10.4% and 47.6%, respectively. Furthermore, the detection rate of clinically significant CNVs increased by 37% in women of AMA who underwent NIPT, when soft ultrasound markers were present. The positive predictive value of NIPT in detecting sex chromosome aneuploidy notably improved from 57.9% to 80% with the inclusion of soft ultrasound markers. Therefore, the combination of NIPT and soft ultrasound markers in women of AMA should be strongly considered and recommended for prenatal diagnosis.

Effect of maternal age on the rate, type, and indications of caesarean section deliveries: A study from a maternity hospital of Peshawar, Pakistan.

Objective: To evaluate the effect of maternal age on the rate, type (elective or emergency) and indications of caesarean section. Study Design: Cross-sectional study. Setting: Government Maternity Hospital, Peshawar. Period: January 2020 to January 2021. Methods: The normal labor register, which contains data of each, and every delivery conducted in the mentioned hospital, was used to find out total number of caesarean sections during the period of study. All those patients were included in the study who underwent caesarean section during the study period. Total number of caesarean sections was 603 after excluding the patients with ruptured uterus, multiple pregnancies, ectopic pregnancy and cephalopelvic disproportion. Maternal age was noted and compared with the rate of caesarean section. Maternal age was further categorized as &lt;20; 21-25; 26-30; 31-35; 36-40 and &gt;40 years. Results: Among 603 patients, the majority of patients who underwent caesarean section were in 26-30 years age group followed by 21-25 years. When the indications for caesarean section were compared based on the already defined categories of age, a significant difference (p&lt;0.001) was found. Previous caesarean sections were found to be the topmost cause in all age groups while the second common cause was malpresentation. Elective caesarean section rate was found to be significantly higher than emergency ones with p-value&lt;0.001. Conclusion: Our results revealed a greater number of caesarean sections in the younger age group; therefore, it can be concluded that maternal age has no direct effects on the rate, type, and indications of caesarean section.