Fetal Pregnancy Outcomes Research Articles

A Prospective Observational Study of Maternal, Fetal and Neonatal Outcome in Singleton Term Pregnancies With Amniotic Fluid Index Between 5-8cm"

A Prospective Observational Study of Maternal, Fetal and Neonatal Outcome in Singleton Term Pregnancies With Amniotic Fluid Index Between 5-8cm"

Aberrant Number of Vessels in the Umbilical Cord: What Do We Know?

The umbilical cord, comprising three vital blood vessels, serves as the lifeline between mother and fetus. Prenatal care emphasizes detailed ultrasound examinations of the umbilical cord and postnatal inspections of the placenta and cord to preemptively address potential complications. Studies have consistently shown a significant link between a single umbilical artery and unfavorable perinatal consequences, such as mortality and congenital abnormalities. Conversely, the impact of additional vessels remains uncertain. This review is dedicated to enhancing our understanding and refining diagnostic and therapeutic approaches in prenatal healthcare. The objective is to identify knowledge gaps and propose evidence-based solutions to improve care for pregnant women and their unborn babies. The presence of a single umbilical artery in prenatal diagnosis may signify potential risks for fetal anomalies and adverse pregnancy outcomes such as hemodynamic instability, ischemia, and an increased likelihood of intrauterine growth restriction. Additionally, even the presence of supernumerary vessels may be associated with fetal malformations. Serial fetal evaluations are recommended for detecting anomalies and monitoring fetal growth throughout pregnancy. Despite the generally benign nature of isolated SUA and supernumerary vessels, close monitoring and comprehensive prenatal care are essential to ensuring optimal outcomes for both mother and baby.

Gestational diabetes: an update sixty years after O'Sullivan and Mahan.

Sixty years after the landmark publication by O'Sullivan and Mahan, the current paper seeks to review and place into context the importance of gestational diabetes (GDM) both as a marker of increased risk of adverse maternal and fetal pregnancy outcomes and as an indicator of future maternal and infant health risks. We review the evolution of GDM as a diagnosis, the ongoing debate regarding diagnostic approaches, the underlying pathophysiology, the epidemiology and the importance of GDM in the context of the global epidemics of diabetes and obesity. Focusing on clinical management, we review lifestyle based therapy and pharmacotherapy for GDM, consider obstetric management and outline the short term and lifelong health risks posed by a GDM diagnosis.

7589 A Survey On the Current Status of Universal Screening Thyroid Indicators During Pregnancy in Real World Study

Abstract Disclosure: N. Zhou: None. W. Sun: None. H. Meng: None. Y. Huang: None. J. Zhao: None. Y. Gao: None. H. Yang: None. Y. Zhang: None. A Survey on the current status of universal screening thyroid indicators during pregnancy in real world study Background: Thyroid dysfunction and thyroid auto-immunity (TAI) are common in women of childbearing age, which have been proven to increase the risk of maternal and fetal adverse pregnancy outcomes. China has adhered to the strategy of universal screening for early pregnancy thyroid indicators since 2012, and is currently the only country that recommends universal screening. This study aimed to investigate the implementation situation of universal screening for thyroid indicators during pregnancy in real world study. Methods: We retrospectively collected medical record information from 18,932 women who underwent regular prenatal examinations at Peking University First Hospital from January 2014 to December 2016 until the end of pregnancy, grouping based on whether thyroid indicators were screened during pregnancy, and comparing the general characteristics and pregnancy outcomes. Furthermore, the treatment compliance status of women who took levothyroxine and antithyroid drugs (ATD) before pregnancy was also analyzed. Results: The screening rate for thyroid indicators in pregnancy was 88.7% in our hospital, 93.3% of pregnant women underwent screening in early pregnancy, with a median gestational age of 7.0 (6.6, 10.1) weeks. Non-screening ones were more inclined to be aged>40 years or <25 years, with a BMI ≥24 kg/m2, pluriparity (≥2), and without thyroid disease history prior to conception (P < 0.05). After correcting covariates, the risks of early miscarriage (8-12 weeks) (OR=21.96, 95% CI: 19.2, 25.1) and late miscarriage (12-28 weeks) (OR=3.0, 95% CI: 2.5, 3.6) were significantly higher in non-screening group than in the screening group, but there was no significant difference in the risk of preterm labor between the two groups (P=0.985). The achievement rate (0.23≤TSH<2.5uIU/mL, FT4 within normal range, 53.7%-64.2%) of early pregnancy thyroid function among levothyroxine intervention participants increased from 2014 to 2016. Compared with those in the thyroid function controlled group, the patients in the uncontrolled group had earlier screening gestational weeks (6.7 vs. 8.0 weeks), higher TPOAb positivity (58.6% vs. 44%), and a greater incidence of other autoimmune disorders (14.2% vs. 9.8%) (P<0.05). The achievement rate of early pregnancy thyroid function among ATD intervention participants ranged from 63.6 to 71.2%. Conclusions: The screening rate for thyroid indicators in pregnancy is nearly 90% in comprehensive hospitals. The lack of screening may be related to miscarriage to some extent. The current treatment compliance status pre-pregnancy neither for levothyroxine nor ATDs was not satisfactory. Presentation: 6/2/2024

S2048 Maternal and Fetal Outcomes in Post-Transplant Pregnancies: Insights From a National Database

S2048 Maternal and Fetal Outcomes in Post-Transplant Pregnancies: Insights From a National Database

Analysis of Fetal Growth and Pregnancy Outcome in Pregnant Women Infected with Novel Coronavirus in Mid-Pregnancy.

To investigate whether fetal prenatal ultrasound, fetal growth rate, and pregnancy outcome statistically differ between women infected with novel coronavirus (COVID-19) in mid-pregnancy and an uninfected control group. A retrospective analysis of biparietal diameter (BPD), head circumference (HC), abdominal circumference (AC), femur length (FL), and z-scores for each among 46 pregnant women diagnosed with COVID-19 in mid-pregnancy between December 01, 2022 and June 31, 2023 was conducted. A control group included 92 pregnant women negative for COVID-19 during the same period and was also analyzed. To examine fetal growth, rate of increase in BPD, HC, AC, FL, and estimated fetal weight (EFW) between second and third trimester scans were analyzed. In addition, pregnancy outcome, maternal comorbidities, and neonatal prognosis were assessed. The occurrence of gestational diabetes differed significantly between groups, but the fetal growth rate and EFW did not. Similarly, pregnancy outcomes and neonatal prognoses did not differ significantly between groups. Gestational diabetes was a complication that differed between patients with and without COVID-19 in this study. COVID-19 in pregnant women did not affect fetal development. Therefore, these preliminary data suggest that increased fetal monitoring is not necessary for women infected with COVID-19 during the second trimester, and these women should be reassured of the low risk of adverse fetal outcomes.

Maternal and fetal outcome of postdated pregnancy; A cross sectional study

Background: Postdated pregnancy refers to a pregnancy that extends beyond the expected date of delivery, which is 280 days. When a pregnancy surpasses 42 weeks (more than 294 days), it is termed as post-term pregnancy. Postdated pregnancy is one of the most common obstetric problems associated with increased maternal and foetal morbidity, and mortality. Gestational age is among the most important determinants of perinatal outcomes, but studies have focused more on preterm births (<37 completed gestational weeks) and less on the understanding and prevention of post term births. Objectives: To assess the maternal and fetal outcome of postdated pregnancy. Material and Methods: Present observational descriptive cross sectional study was conducted for the period of 1 year from 1st April 2023 to 31st March 2024. Total 150 postdated pregnant women included in present study as per predefined after satisfying the inclusion and exclusion criteria. Results: During study period out of total deliveries 110 were postdated deliveries. Out of them 46.36% and 28.18% were of 21-25 years and 26-30 years of age respectively. The mean age of all participants was 25.51 ± 4.58 years. A statistically significant association was found between the gestational age of postdated women and their mode of delivery. Out of 110 postdated women, 68.18% and 31.81% had vaginal and caesarean deliveries, respectively. Conclusion: Adverse maternal and fetal outcomes of post-dated pregnancy should be anticipated and counseling of women at risk of post-term pregnancy and timely management for its prevention is recommended

The Pharmacotherapy Practices and Clinical Outcomes of Pre-eclampsia/Eclampsia: An Observational Study

Background: This study observes fetal, pregnancy, and maternal outcomes with different regimens of Magnesium sulphate (MgSO4), used for prophylaxis and treatment of convulsions in eclampsia. Methods: In this observational study, the current prescribing practice and management outcomes of pre-eclampsia/eclampsia were observed in three tertiary care hospitals in Lahore, Pakistan. Data were collected by using data collection form, containing information related to patient demographics, history, laboratory findings, drug administration record, and therapeutic outcomes for pregnancy, fetus, and mother. Results: Of the 50 patients studied, most (74%) were of eclampsia. The mean age of the patients was 25.7 (+5.05) years with the majority (36%) in the age range 21–25 years. Forty-one patients received MgSO4, of which most received the Pritchard regimen (n = 35), whereas only 5 patients were managed with Zuspan regimen. Liner logistic analysis revealed better fetal outcomes (OR 0.217, CI –0.283 – 1.543) and pregnancy outcomes (OR 0.186, CI –0.164 – 0.635) with Zuspan regimen as compared to Pritchard. Whereas, both regimens showed no difference in maternal outcomes (OR 0.044, CI –0.129 – 0.170). Conclusion: Zuspan regimen proved to be better in morbidity and mortality associated with eclampsia. Additionally, national as well as institutional guidelines should be developed, implemented, properly monitored, and evaluated for management of preeclampsia/ eclampsia. Mandatory in-service training and expertise should be provided for health professionals at all levels of the healthcare system, especially those working in gynecological setup.

MATERNAL AND FETAL OUTCOME OF PREGNANCY IN SLE: A SINGLE CENTER SURVEY FROM PAKISTAN

Systemic Lupus Erythematosus (SLE) is an autoimmune disease with multifactorial origins, affecting multiple organ systems. Pregnancy in women with SLE is associated with a higher risk of complications and adverse outcomes. This study aimed to evaluate maternal and fetal outcomes in pregnant patients with SLE. Objective: To analyse the maternal and fetal pregnancy outcomes in patients with SLE. Methods: This cross-sectional study was conducted over six months, from Jan 2024 to July 2024, after approval from the institutional ethical review board. Sixty-six pregnant women with SLE were enrolled based on specific inclusion and exclusion criteria. Detailed medical histories were collected, and patients were followed throughout pregnancy for maternal and fetal outcomes. Data was analyzed using SPSS version 26.0. Results: The mean age of the participants was 35.11 ± 7.27 years. Maternal complications included SLE flare in 47 (71.2%) patients, onset of disease during pregnancy in 4 (6.1%) patients, and normal pregnancy in only 15 (22.7%) cases. Fetal outcomes revealed intrauterine growth retardation (IUGR) in 12 (18.2%) cases and intrauterine death in 5 (7.6%) cases. Conclusion: Pregnancy in women with SLE is associated with significant maternal and fetal complications. The high prevalence of adverse outcomes underscores the need for careful monitoring and specialised care during pregnancy to improve prognoses.

Shedding Light on the COVID-19 Pandemic: Placental Expression of Cell Biomarkers in Negative, Vaccinated, and Positive Pregnant Women.

Background: We investigated the expression of inflammation, placental development, and function markers, including cluster of differentiation 44 (CD44), osteopontin (OPN), and cyclooxygenase-2 (COX-2), to shed light on the controversy regarding the impact of the COVID-19 epidemic on fetal development and pregnancy outcomes. Methods: We immunohistochemically analyzed placental tissue from 170 patients (65 COVID-positive and unvaccinated women; 35 Pfeizer-vaccinated and COVID-negative women; and 70 COVID-negative and unvaccinated women, without any other associated pathology) for particularities in the expression of these three molecules. Results: CD44 expression was highest in COVID-negative and unvaccinated women, moderate in COVID-positive cases, and lowest in vaccinated and COVID-negative women. OPN expression was highest in COVID-negative and Pfeizer-vaccinated cases, moderate in COVID-negative and unvaccinated cases, and lowest in COVID-positive cases. COX-2 expression was increased in COVID-negative and unvaccinated women, modestly elevated in COVID-positive and unvaccinated cases, and lowest in vaccinated cases. Conclusions: These findings reflected an alteration in the placental structure and consequent function due to altered expression of the three studied molecules.

Using Doppler ultrasound to assess fetal cardiac function and pregnancy outcomes in obstetric antiphospholipid syndrome pregnancies: a case-control study.

This study aimed to evaluate fetal left ventricular function (LVF) in pregnant women with obstetric antiphospholipid syndrome (OAPS) by Doppler ultrasound and developed a clinical nomogram to predict adverse perinatal outcomes. In this prospective observational study, 105 pregnant women were enrolled and divided into the OAPS cohort (n = 60) and the control cohort (n = 45). Fetal cardiac function parameters were collected and compared between two cohorts. Univariate and multivariate analysis was conducted to select the risk factors associated with adverse perinatal outcomes, and a clinical nomogram was developed based on these selected risk factors. The predictive performance of corresponding indicators for adverse perinatal outcomes was evaluated using receiver operating characteristic (ROC) curve analysis. The OAPS cohort revealed an increase in the isovolumic relaxation time (IVRT) and myocardial performance index (MPI), a decrease in the ejection time (ET), middle cerebral artery pulsatility index (MCA-PI) and cerebroplacental ratio (CPR) compared to the control cohort. Through univariate and multivariate analysis, gravidity, CPR, and MPI were the risk factors associated with adverse perinatal outcomes. A model predicting adverse perinatal outcomes in OAPS pregnant women was constructed based on these three factors and visualized as a nomogram. The nomogram could accurately predict adverse perinatal outcomes with an area under the curve of 0.923 (95% CI: 0.858-0.982). This performance was better than evaluating individual factors such as MPI (0.825, 95% CI: 0.739-0.911) and CPR (0.816, 95% CI: 0.705-0.927) for efficacy. MPI can be used to assess fetal LVF and predict adverse perinatal outcomes. We developed a nomogram to predict adverse perinatal outcomes in OAPS women. This imaging-based evidence can provide timely clinical intervention, enabling personalized clinical decision-making.

Comparison of Ultrasound Findings Associated with Adverse Fetal, Obstetric, and Neonatal Outcomes in Pregestational Type 1 And Type 2 Diabetes: A Systematic Review.

We aimed to summarize the available evidence examining the association between prenatal ultrasound findings and adverse fetal, obstetric, and neonatal outcomes in pregnancies complicated by type 1 diabetes mellitus (T1DM) and type 2 diabetes mellitus (T2DM) and to evaluate whether the predictive value of ultrasound findings for adverse outcomes varies between T1DM and T2DM pregnancies. We conducted a systematic review of the existing literature through August 12, 2024. We included articles in English that reported associations between ultrasound findings and fetal, obstetric, and neonatal outcomes in pregnant people with T1DM and T2DM. Two independent reviewers examined articles at the abstract level and, if eligible, at the full-text level; disagreements were adjudicated by a third reviewer. Of the 2,088 unique citations reviewed, 12 studies met the inclusion criteria describing associations between ultrasound findings and fetal, obstetric, and neonatal outcomes among a total of 1,165 pregnant people with T1DM and 489 pregnant people with T2DM. Most studies (10/12) examined the association between ultrasound measures of growth, including estimated fetal weight (EFW) and its individual components, abdominal wall thickness, head circumference to abdominal circumference (HC/AC) ratio, and birthweight, large for gestational age (LGA) or small for gestational age (SGA). Studies did not examine stillbirth, neonatal demise, or maternal outcomes other than cesarean section. This systematic review synthesizes the available literature on ultrasound risk markers of adverse fetal, obstetric, and neonatal outcomes separately in pregnant people with T1DM and T2DM. We identified very few studies that distinguished between pregnant people with T1DM and T2DM, and the majority focused on surrogate outcomes (e.g., LGA, SGA) of morbidity. Our findings highlight the need for further studies investigating these distinct diseases to provide evidence for antenatal management recommendations.

Safety of contrast-enhanced ultrasound using microbubbles in human pregnancy: A scoping review.

Successful placentation is crucial for fetal development and maintaining a healthy pregnancy. Placental insufficiency can cause a variety of obstetric complications. Despite the many efforts to enhance diagnosing placental insufficiency, no imaging technique has proven satisfactory. A promising imaging technique is contrast-enhanced ultrasound (CEUS) using microbubbles which has proven capable of (micro)vascular imaging. Its use for placental vascularization assessment in human pregnancies remains constrained by limited evidence and safety concerns. This scoping review aims to demonstrate the safety of CEUS used in human pregnancy in the published literature to date. A systematic search using PubMed, Medline, Embase, and Cochrane databases was performed. All studies where contrast-enhanced ultrasound was used in pregnant humans were included. Studies, where there was a planned termination of pregnancy, were excluded. To assess the safety of CEUS during pregnancy, relevant outcomes were divided into the following 3 categories; fetal outcome, maternal outcome, and pregnancy and neonatal outcomes. A total of 13 articles were included, in which 256 women underwent CEUS during pregnancy. No clinically significant maternal or fetal adverse events or negative pregnancy or neonatal outcomes associated with CEUS were described. Based on our findings, we consider expanding the knowledge of this promising diagnostic technique in future larger clinical studies to be safe and relevant.

Placental mosaicism for autosomal trisomies: comprehensive follow-up of 528 Danish cases (1983–2021)

BackgroundMosaicism, characterized by the presence of two or more chromosomally distinct cell lines, is detected in 2% to 4% of chorionic villus samples (CVSs). In these cases, the aberration may be confined to the placenta or additionally present in the fetus. Fetal involvement may manifest as fetal malformations, while confined placental mosaicism (CPM) poses risks such as preterm birth and low birth weight. Differentiating between true fetal mosaicism and CPM at the time of the chorionic villus sampling is challenging and requires follow-up by an amniocentesis and ultrasonography. ObjectiveTo estimate the risk of fetal involvement or adverse pregnancy outcomes for specific chromosomes after detecting mosaicism for an autosomal trisomy in a CVS and identify high (red), intermediate (yellow), and low (green) risk chromosomes. Further, to explore possible associations with level of mosaicism and screening parameters. Study DesignA retrospective descriptive study of all singleton pregnancies with mosaicism detected in CVSs from 1983 to 2021 identified in the Danish Cytogenetic Central Registry and the Danish Fetal Medicine Database. ResultsOf 90,973 CVSs, 528 cases had mosaicism involving an autosomal trisomy and where genetic follow-up had been performed. The overall risk of fetal involvement was 13% (69/528) with extensive variations depending on which chromosome was involved (eg, trisomy 7: 0% [0/55] or trisomy 21: 46% [19/41]). Higher levels of mosaicism in the CVS suggested fetal involvement as mean mosaic level was 55% in true fetal mosaics vs 28% in cases confined to the placenta (P=.0002). In cases with CPM (459/528), the risk of delivering small-for-gestational-age neonates was 14% (48/341). The risk of preterm birth (before 37 weeks) was 15% (51/343). The collective risk of adverse outcome was 22% (76/343) in pregnancies that continued and where information on birth weight and gestational age at birth was available. Adverse outcomes varied substantially between chromosomes. Also, multiple-of-the-median (MoM) values of pregnancy-associated plasma protein A was predictive of these issues as it was significantly lower in cases with adverse outcome compared to cases with a normal outcome (small for gestational age: 0.23 MoM vs 0.47 MoM, P<.0001) or preterm birth: 0.25 MoM vs 0.47 MoM, P<.0001). After the introduction of combined first-trimester screening (cFTS) in 2004, the detection of cases with fetal involvement seemed to increase as the risk before 2004 was 9% (16/174) compared to 15% (53/354) after 2004 (risk ratio: 1.7 [95% CI: 1.0; 2.8]). The risk of adverse outcome in CPM pregnancies increased from 16% (22/139) before 2004 to 27% (55/204) after 2004 (risk ratio 1.7 [95% CI: 1.1; 2.7]). ConclusionIntroducing cFTS increased the detection of placental mosaicism with fetal involvement and CPM with adverse outcome. In cases of mosaicism in CVSs, the risk of fetal involvement and adverse outcomes varied considerably between chromosomes. Importantly, adverse outcomes were seen in CPM for many trisomies besides trisomy 16.

Navigating Primary Immune Thrombocytopenia During Pregnancy With Management Strategies and Considerations: A Comprehensive Review.

Primary immune thrombocytopenia (ITP) is an autoimmune disorder characterized by a reduction in platelet count due to autoantibody-mediated platelet destruction. ITP presents unique challenges during pregnancy, affecting both maternal and fetal health. This comprehensive review explores the pathophysiology, diagnosis, and management strategies of ITP in pregnant women, emphasizing the importance of individualized care. The incidence of ITP in pregnancy is significant, with potential complications including maternal hemorrhage and neonatal thrombocytopenia. Effective management is crucial to minimize these risks and ensure optimal outcomes. First-line treatments typically include corticosteroids and intravenous immunoglobulin (IVIG), with second-line options such as immunosuppressive agents and thrombopoietin receptor agonists. This review highlights the significance of multidisciplinary care and the need for careful monitoring and adjustment of treatment plans based on the severity of thrombocytopenia and the pregnancy stage. This review aims to enhance clinical decision-making and improve maternal and fetal outcomes in pregnancies complicated by ITP by providing a detailed analysis of current practices and emerging therapies.

Lupus nephritis kidney biopsy characteristics and preterm birth.

Individuals with lupus nephritis (LN) are at high risk of adverse maternal and fetal outcomes in pregnancy. Outside of pregnancy, proliferative lesions on kidney biopsies are associated with disease progression, but these have not been consistently associated with increased risk in pregnancy. This retrospective, single-center study examines how histologic findings, the timing from kidney biopsy to pregnancy, and the clinical features in the first trimester are associated with preterm birth among individuals with LN. Among 35 deliveries in 31 women, the mean gestational age at delivery was 33.8 weeks. The presence of a urine protein-to-creatinine ratio >0.5 g/g in the first trimester was associated with preterm delivery (81% vs. 36%, p = 0.04). Preterm birth was more common in individuals with glomerular crescents on biopsy (89% in those with >20% crescents vs. 50% in those with <20%, p = 0.06). A pregnancy occurring within 2 years after a kidney biopsy was more likely to result in preterm birth than if the biopsy was performed more than 2 years prior to conception (82% vs. 23%, p = 0.01). The time from diagnostic biopsy may be a surrogate for disease activity, and a 2-year delay from biopsy might allow sufficient time to achieve disease remission. Overall, these data could aid family planning discussions and promote preconception disease optimization for patients and their providers.

Characteristics and maternal-fetal outcomes of pregnant women with critical congenital heart disease from a single center in China

Objective: To summarize the characteristics of pregnant women with critical congenital heart disease, and to explore continuous, integrated, multidisciplinary management for this segment of population. Methods: The clinical records of pregnant women with severe congenital heart disease with a history of intensive care who were treated in Guangdong Provincial People's Hospital from January 1, 2008 to December 31, 2020 were retrospectively analyzed. Results: (1) A total of 132 cases were included, including 128 pregnant women [gestational age (28.0±8.8) weeks] and 4 puerpera cases (6-32 days postpartum), 63.6% (84/132) from economic underdeveloped rural areas, and 78.0% (103/132) by the municipal hospital, irregular prenatal examination accounted for 59.1% (78/132). The main type of congenital heart disease was shunt lesion (55.3%, 73/132). 90.9% (120/132) with mWHO risk classification stage Ⅳ were assigned to it. The main cardiovascular complication was pulmonary hypertension (64.4%, 85/132). 46.2% (61/132) of the patients had been diagnosed with congenital heart disease before pregnancy, and 70.5% (93/132) of the patients had not received any treatment before pregnancy. (2) All patients received obstetric-led, multidisciplinary care. The rescue success rate was 96.2% (127/132), and no serious obstetric complications occurred. The mortality within 24 hours after discharge was 3.8% (5/132). 16.7% (22/132) underwent cardiac surgery during pregnancy, of which 77.3% (17/22) continued their pregnancy beyond 34 weeks. Totally, the delivery week was (30.5±8.6) weeks, and the main mode was cesarean section (71.2%, 94/132). The average weight of 99 live births (including 1 twin pregnancy) was (2 167±698) g. Preterm birth, fetal growth restriction, and congenital malformations were the main fetal comorbidities. Conclusions: Pregnant women with severe congenital heart disease mainly come from areas with underdeveloped economic and medical levels. Later disease intervention, pregnancy retention despite of clear pregnancy contraindications are the distinctive features, which leaded to a significant increase of incidence of maternal and fetal complications, and an increase of the consumption of medical resources. Multidisciplinary active treatment and cardiac surgery during pregnancy could relatively improve maternal and fetal pregnancy outcomes.

Prenatal phenotypes and pregnancy outcomes of fetuses with 16p11.2 microdeletion/microduplication

BackgroundChromosomal 16p11.2 deletions and duplications are genomic disorders which are characterized by neurobehavioral abnormalities, obesity, congenital abnormalities. However, the prenatal phenotypes associated with 16p11.2 copy number variations (CNVs) have not been well characterized. This study aimed to provide an elaborate summary of intrauterine phenotypic features for these genomic disorders.MethodsTwenty prenatal amniotic fluid samples diagnosed with 16p11.2 microdeletions/microduplications were obtained from pregnant women who opted for invasive prenatal testing. Karyotypic analysis and chromosomal microarray analysis (CMA) were performed in parallel. The pregnancy outcomes and health conditions of all cases after birth were followed up. Meanwhile, we made a pooled analysis of the prenatal phenotypes in the published cases carrying 16p11.2 CNVs.Results20 fetuses (20/20,884, 0.10%) with 16p11.2 CNVs were identified: five had 16p11.2 BP2-BP3 deletions, 10 had 16p11.2 BP4-BP5 deletions and five had 16p11.2 BP4-BP5 duplications. Abnormal ultrasound findings were recorded in ten fetuses with 16p11.2 deletions, with various degrees of intrauterine phenotypic features observed. No ultrasound abnormalities were observed in any of the 16p11.2 duplications cases during the pregnancy period. Eleven cases with 16p11.2 deletions terminated their pregnancies. For 16p11.2 duplications, four cases gave birth to healthy neonates except for one case that was lost to follow-up.ConclusionsDiverse prenatal phenotypes, ranging from normal to abnormal, were observed in cases with 16p11.2 CNVs. For 16p11.2 BP4-BP5 deletions, abnormalities of the vertebral column or ribs and thickened nuchal translucency were the most common structural and non-structural abnormalities, respectively. 16p11.2 BP2-BP3 deletions might be closely associated with fetal growth restriction and single umbilical artery. No characteristic ultrasound findings for 16p11.2 duplications have been observed to date. Given the variable expressivity and incomplete penetrance of 16p11.2 CNVs, long-term follow-up after birth should be conducted for these cases.

The association between maternal obesity and fetomaternal outcomes in twin pregnancies.

The prevalence of overweight and obese people worldwide has dramatically increased in the last decades and is yet to peak. At the same time and partly due to obesity and associated assisted reproduction, twinning rates showed a clear rise in the last years. Adverse fetomaternal outcomes are known to occur in singleton and twin pregnancies in overweight and obese women. However, the impact of the obesity levels as defined by the World Health Organization on the outcomes of twin pregnancies has not been thoroughly studied. Therefore, the purpose of this study is to examine how maternal overweight, and the level of obesity affect fetomaternal outcomes in twin pregnancies, hypothesizing a higher likelihood for adverse outcomes with overweight and each obesity level. This is a retrospective cohort study with 2,349 twin pregnancies that delivered at the Buergerhospital Frankfurt, Germany between 2005 and 2020. The mothers were divided into exposure groups depending on their pre-gestational body mass index; these were normal weight (reference group), overweight and obesity levels I, II, and III. A multivariate logistic regression analysis was performed to assess the influence of overweight and obesity on gestational diabetes mellitus, preeclampsia, postpartum hemorrhage, intrauterine fetal death, and a five-minutes Apgar score below seven. The adjusted odds ratio for gestational diabetes compared to normal weight mothers were 1.47, 2.79, 4.05, and 6.40 for overweight and obesity levels I, II and III respectively (p = 0.015 for overweight and p < 0.001 for each obesity level). Maternal BMI had a significant association with the risk of preeclampsia (OR 1.04, p = 0.028). Overweight and obesity did not affect the odds of postpartum hemorrhage, fetal demise, or a low Apgar score. While maternal overweight and obesity did not influence the fetal outcomes in twin pregnancies, they significantly increased the risk of gestational diabetes and preeclampsia, and that risk is incremental with increasing level of obesity.

ITRAQ proteomics analysis of placental tissue with gestational diabetes mellitus.

Gestational diabetes mellitus is an endocrine and metabolic disorder that appears for the first time during pregnancy and causes varying degrees of short- and/or long-term effects on the mother and child. The etiology of the disease is currently unknown and isobaric tags for relative and absolute quantitation proteomics approach, the present study attempted to identify potential proteins in placental tissues that may be involved in the pathogenesis of GDM and adverse foetal pregnancy outcomes. Pregnant women with GDM hospitalised were selected as the experimental group, and pregnant women with normal glucose metabolism as the control group. The iTRAQ protein quantification technology was used to screen the differentially expressed proteins between the GDM group and the normal control group, and the differentially expressed proteins were analysed by GO, KEGG, PPI, etc., and the key proteins were subsequently verified by western blot. Based on the proteomics of iTRAQ, we experimented with three different samples of placental tissues from GDM and normal pregnant women, and the total number of identified proteins were 5906, 5959, and 6017, respectively, which were similar in the three different samples, indicating that the results were reliable. Through the Wayne diagram, we found that the total number of proteins coexisting in the three groups was 4475, and 91 differential proteins that could meet the quantification criteria were strictly screened, of which 32 proteins were up-regulated and 59 proteins were down-regulated. By GO enrichment analysis, these differential proteins are widely distributed in extracellular membrane-bounded organelle, mainly in extracellular exosome, followed by intracellular vesicle, extracellular organelle. It not only undertakes protein binding, protein complex binding, macromolecular complex binding, but also involves molecular biological functions such as neutrophil degranulation, multicellular organismal process, developmental process, cellular component organization, secretion, regulated exocytosis. Through the analysis of the KEGG signaling pathway, it is found that these differential proteins are mainly involved in HIF-1 signaling pathway, Glycolysis/Gluconeogenesis, Central carbon metabolism in cancer, AMPK signaling pathway, Proteoglycans in cancer, Protein processing in endoplasmic reticulum, Thyroid cancer, Alcoholism, Glucagon signaling pathway. This preliminary study helps us to understand the changes in the placental proteome of GDM patients, and provides new insights into the pathophysiology of GDM.