Prospective prenatal cell-free DNA screening for genetic conditions of heterogenous etiologies.

Prenatal cell-free DNA (cfDNA) screening uses extracellular fetal DNA circulating in the peripheral blood of pregnant women to detect prevalent fetal chromosomal anomalies. However, numerous severe conditions with underlying single-gene defects are not included in current prenatal cfDNA screening. In this prospective, multicenter and observational study, pregnant women at elevated risk for fetal genetic conditions were enrolled for a cfDNA screening test based on coordinative allele-aware target enrichment sequencing.

Association between abnormal uterine artery pulsatility index and the risk of fetal congenital heart defects: a hospital-based cohort study.

To explore the associations between high uterine artery pulsatility index (UtA-PI) values and congenital heart disease (CHD) risk and whether they differed between singleton and multiple pregnancies. This hospital-based cohort study involving 52,047 pregnant women who underwent prenatal examinations from 2012 to 2016. Infants born to the included pregnant women were followed until 42 days after birth to identify those with CHDs.

GMRLNet: A Graph-Based Manifold Regularization Learning Framework for Placental Insufficiency Diagnosis on Incomplete Multimodal Ultrasound Data.

Multimodal analysis of placental ultrasound (US) and microflow imaging (MFI) could greatly aid in the early diagnosis and interventional treatment of placental insufficiency (PI), ensuring a normal pregnancy. Existing multimodal analysis methods have weaknesses in multimodal feature representation and modal knowledge definitions and fail on incomplete datasets with unpaired multimodal samples. To address these challenges and efficiently leverage the incomplete multimodal dataset for accurate PI diagnosis, we propose a novel graph-based manifold regularization learning (MRL) framework named GMRLNet.

Comparison of the left and right ventricular size and systolic function of low-risk fetuses in the third trimester: Which is more dominant?

Objective: To quantify fetal cardiovascular parameters utilizing fetal-specific 2D speckle tracking technique and to explore the differences in size and systolic function of the left and right ventricles in low-risk pregnancy.

Methods: A prospective cohort study was performed in 453 low-risk single fetuses (28-39 weeks) to evaluate ventricular size [i.e.

Multimodal fusion model for classifying placenta ultrasound imaging in pregnancies with hypertension disorders.

Background: A multimodal fusion model was proposed to assist the traditional visual diagnosis in evaluating the placental features of hypertension disorders of pregnancy (HDP).

Objective: The aim of this study was to analyse and compare the placental features between normal and HDP pregnancies and propose a multimodal fusion deep learning model for differentiating and characterizing the placental features from HDP to normal pregnancy.

Methods: This observational prospective study included 654 pregnant women, including 75 with HDPs.

Ultrasound-based radiomics for the evaluation of fetal rat lung maturity: A noninvasive assessment method (Ultrasound-based radiomics in fetal rat lung).

Objective: To establish a classification model for the evaluation of rat fetal lung maturity (FLM) using radiomics technology.

Method: A total of 430 high-throughput features were extracted per fetal lung image from 134 fetal lung ultrasound images (four-cardiac-chamber views) of 67 Sprague-Dawley (SD) fetal rats with a gestational age of 16-21 days. The detection of fetal lung tissues included histopathological staining and the expression of surface proteins SP-A, SP-B, and SP-C.

Ultrasound-based radiomics technology in fetal lung texture analysis prediction of neonatal respiratory morbidity.

To develop a novel method for predicting neonatal respiratory morbidity (NRM) by ultrasound-based radiomics technology. In this retrospective study, 430 high-throughput features per fetal-lung image were extracted from 295 fetal lung ultrasound images (four-chamber view) in 295 single pregnancies. Images had been obtained between 28 and 37 weeks of gestation within 72 h before delivery.

Model application to quantitatively evaluate placental features from ultrasound images with gestational diabetes.

Purpose: The goal of this study was to introduce PFCnet (placental features classification network), an multimodel model for evaluating and classifying placental features in gestational diabetes mellitus (GDM) and normal late pregnancy. Deep learning algorithms could be utilized to fully automate the examination of alterations in the placenta caused by hyperglycemia.

Methods: A total of 718 placental ultrasound images, including 139 cases of GDM, were collected, including gray-scale images (GSIs) and microflow images (MFIs).

Correlation between cerebroplacental doppler ratio and neonatal respiratory disorders: A reference marker of fetal lung maturation.

Objective: The aim of this study was to investigate the role of cerebroplacental ratio (CPR) in the final prenatal care for neonatal respiratory diseases and to analyze the risk of relevant factors associated with neonatal respiratory disorders.

Methods: A prospective cohort study of 795 singleton pregnancies was conducted. The pulsatility indices (PI) of the umbilical artery (UA) and the middle cerebral artery (MCA) were measured, and the MCA to UA ratio (CPR) was determined.

Identification of Pathogenic Variants in RPGRIP1L with Meckel Syndrome and Preimplantation Genetic Testing in a Chinese Family.

Meckel syndrome (MKS, OMIM:249000) is a severe multiorgan dysplastic lethal ciliopathy with extreme genetic heterogeneity. Defects in RPGRIP1L are the cause of MKS type 5 (MKS5, OMIM:611561). However, only six different variants have been reported in eight MKS5 cases with biallelic variants.

High maternal blood lipid levels during early pregnancy are associated with increased risk of congenital heart disease in offspring.

Introduction: This study aimed to investigate whether maternal blood lipid levels during early pregnancy are associated with the occurrence of congenital heart disease (CHD) in their offspring.

Material And Methods: In this single-center case-control study, mothers of offspring with CHD (n = 230) and without CHD (n = 381) were included. Maternal lipid levels were determined on fasting blood samples taken in the first trimester.

Ambient fine particulate matter air pollution and the risk of preterm birth: A multicenter birth cohort study in China.

Preterm birth (PTB), defined as live birth before the 37th week of gestation, is believed to have profound impacts on the infant's health in later life. Air pollution has been suggested to be a potential risk factor of PTB, but the evidence was inconsistent. In this multicenter birth cohort study, we aimed to examine the association between fine particulate matter (PM) exposure during pregnancy and PTB in China.

Abnormal placental perfusion and the risk of stillbirth: a hospital-based retrospective cohort study.

Background: A lack of information on specific and interventional factors for stillbirth has made designing preventive strategies difficult, and the stillbirth rate has declined more slowly than the neonatal death rate. We compared the prevalence of stillbirth among the offspring of women with or without abnormal placental perfusion (APP).

Methods: We conducted a hospital-based retrospective cohort study involving women with a singleton pregnancy between 2012 and 2016 (N = 41,632).

Association of abnormal placental perfusion with the risk of male hypospadias: a hospital-based retrospective cohort study.

Background: The effect and extent of abnormal placental perfusion (APP) on the risk of male hypospadias are poorly understood. We compared the prevalence of male hypospadias in the offspring of women with APP and quantify the extent of the APP effect on the anomaly.

Methods: A hospital-based retrospective analysis of births from 2012 to 2016 was conducted in 2018.

Three-dimensional power Doppler ultrasonography indicates that increased placental blood perfusion during the third trimester is associated with the risk of macrosomia at birth.

Purpose: To investigate the association between placental blood perfusion and the occurrence of macrosomia at birth.

Methods: This was a prospective cohort study including women with singleton pregnancies that aimed to measure placental blood perfusion using three-dimensional (3D) power Doppler ultrasonography in the second and third trimester. We acquired three indices of placental blood flow, including vascularization index (VI), flow index (FI), vascularization flow index (VFI), along with routine two-dimensional (2D) biometric measurements, including abdominal circumference (AC) and estimated fetal weight (EFW).

Levator ani evaluation at transperineal elastography in women with deep infiltrating endometriosis postoperatively.

Objective: To explore whether operation can change the elasticity of levator ani in deep infiltrating endometriosis (DIE) with operation and pharmacotherapy using transperineal elastography.

Methods: Total thirty-four patients who were diagnosed as DIE were included in the study. Transperineal elastography were performed in all cases preoperatively and postoperatively.

Elasticity of adenomyosis is increased after GnRHa therapy and is associated with spontaneous pregnancy in infertile patents.

Objective: To explore the effects of GnRHa on adenomyosis by transvaginal elastography.

Methods: A prospective observational study included patients who were diagnosed as adenomyosis by conventional transvaginal ultrasound and infertility. The sonographic characters of elastography, the degree of dysmenorrhea and the values of serum CA125 before and following GnRHa (Triptorelin 3.

A Comparison of Prediction of Adverse Perinatal Outcomes between Hadlock and INTERGROWTH-21 Standards at the Third Trimester.

Little is known about the clinical value of the Hadlock and INTERGROWTH-21 EFW standards for predicting adverse perinatal outcomes (APOs) in the third trimester. The purpose of this study was to study the association between low estimated fetal weight percentile (EFWc) in the third trimester and the risk of APOs and compare predictions of APOs between Hadlock and INTERGROWTH-21 EFW standards. A prospective cohort of 690 singleton pregnancies with ultrasonography performed in the third trimester between March 2015 and March 2016 in China was conducted.

Ultrasonographic Findings of Uterine Carcinosarcoma.

Aims: The aim of this study was to investigate the clinical features and ultrasonographic findings of uterine carcinosarcoma (UCS).

Methods: Seventy-five patients (mean age, 58.6 years) with pathologically proven UCS who were treated at our hospital from January 2003 to December 2015 were retrospectively recruited.

Evaluation of pelvic floor muscle by transperineal elastography in patients with deep infiltrating endometriosis: preliminary observation.

Purpose: To assess the elasticity of the pelvic floor muscle (PFM) affected by deep infiltrating endometriosis (DIE) with transperineal elastography.

Methods: This prospective observational study included 88 patients who were diagnosed with DIE, ovarian endometrioid cyst, or ovarian teratoma. All the patients were assigned to one of the three groups and underwent transperineal elastography.

Transvaginal Elastosonography as an Imaging Technique for Diagnosing Adenomyosis.

To test the hypothesis that the lesional stiffness as measured by transvaginal elastosonography (TVESG) correlates with the extent of fibrosis in adenomyotic (AM) lesions, and thus TVESG can be used to diagnose AM, we conducted 2 studies. The first evaluated the relationship, if any, between lesional stiffness and lesional histology in 35 women with histologically confirmed AM in comparison with tissue stiffness in 11 control myometrial (CM) and 8 uterine fibroids (UFs) tissue samples. The second validated the relationship between lesional stiffness and the severity of dysmenorrhea and the amount of menses in AM patients by recruiting 112 patients diagnosed with AM, 67 with UF, and 130 controls.

Absent fetal nasal bone in the second trimester and risk of abnormal karyotype in a prescreened population of Chinese women.

Introduction: The aim of this study was to evaluate the value of absent fetal nasal bone in the prediction of fetal chromosomal abnormalities, according to whether it was associated with other soft markers or structural abnormalities in a prescreened population of Chinese pregnant women.

Material And Methods: In this retrospective cohort study, women whose fetuses had absent nasal bone detected during the second trimester ultrasound scan were followed. Fetal karyotyping was performed and pregnancy outcomes were recorded.