OBJECTIVES: To construct an intelligent analysis model for classifying fetal orientation during intrapartum ultrasound videos based on multi-feature fusion. METHODS: The proposed model consists of the Input, Backbone Network and Classification Head modules. The Input module carries out data augmentation to improve the sample quality and generalization ability of the model. The Backbone Network was responsible for feature extraction based on Yolov8 combined with CBAM, ECA, PSA attention mechanism and AIFI feature interaction module. The Classification Head consists of a convolutional layer and a softmax function to output the final probability value of each class. The images of the key structures (the eyes, face, head, thalamus, and spine) were annotated with frames by physicians for model training to improve the classification accuracy of the anterior occipital, posterior occipital, and transverse occipital orientations. RESULTS: The experimental results showed that the proposed model had excellent performance in the tire orientation classification task with the classification accuracy reaching 0.984, an area under the PR curve (average accuracy) of 0.993, and area under the ROC curve of 0.984, and a kappa consistency test score of 0.974. The prediction results by the deep learning model were highly consistent with the actual classification results. CONCLUSIONS The multi-feature fusion model proposed in this study can efficiently and accurately classify fetal orientation in intrapartum ultrasound videos.
Humans ; Female ; Ultrasonography, Prenatal/methods* ; Pregnancy ; Fetus/diagnostic imaging* ; Neural Networks, Computer ; Video Recording

Objective: To investigate the perinatal maternal and fetal adverse outcomes of cesarean section in the different duration of the second stage of labor. Methods: A retrospective cohort study was conducted on the clinical data of 154 pregnant women with singleton head pregnancy who underwent cesarean section at different times of the second stage of labor due to maternal and fetal factors in the First Affiliated Hospital of Nanjing Medical University from January 1, 2019 to December 31, 2021. According to the duration of the second stage of labor, they were divided into <2 h group (54 cases), 2-<3 h group (61 cases), and ≥3 h group (39 cases). The general data of pregnant women and neonates, preoperative maternal and neonatal conditions related to labor stages, surgical indications, surgical procedures, and perioperative maternal and neonatal adverse outcomes were compared among the three groups. Results: (1) General Information: there were no significant differences in maternal age, gravidity and parity, proportion of primipara, gestational age at delivery, body mass index before delivery, pregnancy complications, labor analgesia rate and the duration of the first stage of labor among the three groups (all P>0.05). The differences of the gender composition, birth weight and incidence of macrosomia of the three groups were also not statistically significant (all P>0.05). (2) Maternal and fetal status and surgical indications: the incidence of intrapartum fever and type Ⅱ and Ⅲ fetal heart rate monitoring in the <2 h group were higher than those in the 2-<3 h group and the ≥3 h group, and the preoperative fetal head position in the ≥3 h group was lower than that in the 2-<3 h group, with statistically significant differences (all P<0.05). The proportion of cesarean section due to "fetal distress" was 40.7% (22/54) in the <2 h group, which was higher than that in the 2-<3 h group (4.9%, 3/61) and the ≥3 h group (2.6%, 1/39). The proportions of surgical indication of "relative cephalo-pelvic disproportion" were 98.4% (60/61) and 94.9% (37/39) in the 2-<3 h group and ≥3 h group, respectively, and the surgical indication of "fetal head descent arrest" were 41.0% (25/61) and 59.0% (23/39), respectively. Compared with <2 h group [63.0% (34/54), 13.0% (7/54)], the differences were statistically significant (all P<0.05). There were no significant difference in surgical indications between 2-<3 h group and ≥3 h group (all P>0.05). (3) Intraoperative conditions and perioperative complications of cesarean section: the puerperal morbidity rate of <2 h group was 37.0% (20/54), which was higher than those of 2-<3 h group (18.0%, 11/61) and ≥3 h group (7.7%, 3/39), the difference was statistically significant (P<0.05). There were no significant differences in operation time, intraoperative blood loss, incidence of fetal head inlay, uterine incision tear, modified B-Lynch suture for uterine atony, postpartum hemorrhage, perioperative blood transfusion, preoperative hemoglobin (Hb) level, perioperative Hb change, and postoperative hospital stay among the three groups (all P>0.05). (4) Adverse neonatal outcomes: non-hemolytic neonatal hyperbilirubinemia in ≥3 h group was 35.9% (14/39), which was significantly higher than that in <2 h group (13.0%, 7/54; P<0.05). Among the neonates admitted to neonatal intensive care unit (NICU) within 1 week after birth, the proportion of neonates admitted to NICU due to neonatal hyperbilirubinemia in ≥3 h group (15/19) was significantly higher than that in <2 h group (9/17) and 2-<3 h group (10/19), and the differences were statistically significant (all P<0.05). However, there was no significant difference between the <2 h group and the 2-<3 h group (P>0.05). There was no perinatal death in the three groups. Conclusions: The rate of puerperal morbidity is higher in patients who were transferred to cesarean section within 2 hours of the second stage of labor. In the early stage of the second stage of labor, the monitoring of fetal heart rate and amniotic fluid characteristics should be strengthened, especially the presence or absence of prenatal fever. In good maternal and neonatal conditions, conversion to cesarean section after 2 hours of the second stage of labor does not significantly increase the incidence of serious adverse maternal and neonatal outcomes. For the second stage of labor more than 3 hours before cesarean section, it is necessary to strengthen the monitoring of neonatal bilirubin.
Infant, Newborn ; Pregnancy ; Female ; Humans ; Cesarean Section/adverse effects* ; Pregnant Women ; Fetus ; Retrospective Studies ; Labor Stage, Second ; Labor Presentation ; Hyperbilirubinemia, Neonatal/etiology*

Fetal electrocardiogram (ECG) signals provide important clinical information for early diagnosis and intervention of fetal abnormalities. In this paper, we propose a new method for fetal ECG signal extraction and analysis. Firstly, an improved fast independent component analysis method and singular value decomposition algorithm are combined to extract high-quality fetal ECG signals and solve the waveform missing problem. Secondly, a novel convolutional neural network model is applied to identify the QRS complex waves of fetal ECG signals and effectively solve the waveform overlap problem. Finally, high quality extraction of fetal ECG signals and intelligent recognition of fetal QRS complex waves are achieved. The method proposed in this paper was validated with the data from the PhysioNet computing in cardiology challenge 2013 database of the Complex Physiological Signals Research Resource Network. The results show that the average sensitivity and positive prediction values of the extraction algorithm are 98.21% and 99.52%, respectively, and the average sensitivity and positive prediction values of the QRS complex waves recognition algorithm are 94.14% and 95.80%, respectively, which are better than those of other research results. In conclusion, the algorithm and model proposed in this paper have some practical significance and may provide a theoretical basis for clinical medical decision making in the future.
Algorithms ; Neural Networks, Computer ; Electrocardiography ; Databases, Factual ; Fetus

OBJECTIVE: To explore the genetic basis for a fetus with club foot detected upon mid-pregnancy ultrasonography. METHODS: Amniotic fluid of the fetus and peripheral blood samples of its parents were collected and subjected to G-banding karyotype analysis and copy number variation sequencing (CNV-seq). The result was verified by fluorescence in situ hybridization (FISH). RESULTS: The fetus and its parents all had a normal karyotype. CNV-seq analysis revealed that the fetus has harbored a 23.12 Mb on chromosome 5 and a 21.46 Mb duplication on chromosome 7. FISH assay has verified that its mother has carried a cryptic t(5;7)(p14.3;q33) translocation. CONCLUSION CNV-seq combined with FISH can effectively detect cryptic chromosome aberrations, and can help to reduce severe birth defects and provide a basis for prenatal genetic counseling.
Pregnancy ; Female ; Humans ; Cri-du-Chat Syndrome ; In Situ Hybridization, Fluorescence ; DNA Copy Number Variations ; Prenatal Diagnosis ; Fetus ; Amniotic Fluid ; Chromosome Deletion

OBJECTIVE: To assess the clinical efficacy and health economic value of non-invasive prenatal testing (NIPT) for the prenatal screening of common fetal chromosomal aneuploidies. METHODS: 10 612 pregnant women from October 2017 to December 2019 presented at the antenatal screening clinic of the General Hospital of Tianjin Medical University were selected as the study subjects. Results of NIPT and invasive prenatal diagnosis and follow-up outcome for the 10 612 pregnant women were retrospectively analyzed and compared. Meanwhile, NIPT data for two periods were analyzed for assessing the health economic value of NIPT as the second- or first-tier screening strategy for the prenatal diagnosis of fetal trisomies 21, 18 and 13. RESULTS: The NIPT was successful in 10 528 (99.72%) subjects, with the sensitivity for fetal trisomies 21, 18 and 13 being 100%, 92.86% and 100%, and the positive predictive value (PPV) being 89.74%, 61.90% and 44.44%, respectively. The PPV of NIPT for sex chromosome aneuploidies was 34.21%. Except for one false negative case of trisomy 18, the negative predictive value for trisomy 21, trisomy 13 and other chromosomal abnormalities were 100%. For pregnant women with high risk by serological screening, advanced maternal age or abnormal ultrasound soft markers, NIPT has yielded a significantly increased high risk ratio. There was no statistical difference in the PPV of NIPT among pregnant women from each subgroup. NIPT would have higher health economic value as a second-tier screening until 2019, while compared to 2015 ~ 2017, its incremental cost-effectiveness ratio as a first-tier screening had declined clearly. CONCLUSION The screening efficacy of NIPT for trisomies 21, 18 and 13 for a mixed population is significantly better than conventional serological screening, but it is relatively low for sex chromosomal abnormalities. NIPT can also be recommended for populations with relatively high risks along with detailed pre- and post-test genetic counselling. From the perspective of health economics, except for open neural tube defects, it is possible for NIPT to replace the conventional serological screening in the future as its cost continues to decrease.
Pregnancy ; Female ; Humans ; Trisomy/genetics* ; Retrospective Studies ; Prenatal Diagnosis/methods* ; Down Syndrome/genetics* ; Aneuploidy ; Chromosome Aberrations ; Trisomy 18 Syndrome/genetics* ; Sex Chromosome Aberrations ; Fetus

OBJECTIVE: To assess the value of chromosomal microarray analysis (CMA) for the diagnosis of fetuses with anomalies of the central nervous system (CNS) and summarize the outcome of the pregnancies and follow-up. METHODS: A total of 636 fetuses from June 2014 to December 2020 who were referred to the Prenatal Diagnosis Center of Nanjing Drum Tower Hospital due to abnormal CNS prompted by ultrasound were selected as the research subjects. Based on the ultrasound findings, the fetuses were divided into ventricular dilatation group (n = 441), choroid plexus cyst group (n = 41), enlarged posterior fossa group (n = 42), holoprosencephaly group (n = 15), corpus callosum hypoplasia group (n = 22), and other anomaly group (n = 75). Meanwhile, they were also divided into isolated (n = 504) and non-isolated (n = 132) groups based on the presence of additional abnormalities. Prenatal samples (amniotic fluid/chorionic villi/umbilical cord blood) or abortus tissue were collected for the extraction of genomic DNA and CMA assay. Outcome of the pregnancies and postnatal follow-up were summarized and subjected to statistical analysis. RESULTS: In total 636 fetuses with CNS anomalies (including 89 abortus tissues) were included, and 547 cases were followed up. The overall detection rate of CMA was 11.48% (73/636). The detection rates for the holoprosencephaly group, ACC group, choroid plexus cyst group, enlarged posterior fossa group, ventricular dilatation group and other anomaly group were 80% (12/15), 31.82% (7/22), 19.51% (8/41), 14.29% (6/42), 7.48% (33/441) and 9.33% (7/75), respectively. Compared with the isolated CNS anomaly group, the detection rate for the non-isolated CNS anomaly group was significantly higher (6.35% vs. 31.06%) (32/504 vs. 41/132) (χ² = 62.867, P < 0.001). Follow up showed that, for 52 fetuses with abnormal CMA results, 51 couples have opted induced labor, whilst 1 was delivered at full term with normal growth and development. Of the 434 fetuses with normal CMA results, 377 were delivered at full term (6 had developmental delay), and 57 couples had opted induced labor. The rate of adverse pregnancy outcome for non-isolated CNS abnormal fetuses was significantly higher than that of isolated CNS abnormal fetuses (26.56% vs. 10.54%) (17/64 vs. 39/370) (χ² = 12.463, P < 0.001). CONCLUSION Fetuses with CNS anomaly should be tested with CMA to determine the genetic cause. Most fetuses with negative CMA result have a good prognosis, but there is still a possibility for a abnormal neurological phenotype. Fetuses with CNS abnormalities in conjunct with other structural abnormalities are at increased risk for adverse pregnancy outcomes.
Female ; Pregnancy ; Humans ; Holoprosencephaly ; Prenatal Diagnosis/methods* ; Central Nervous System ; Fetus/abnormalities* ; Nervous System Malformations/genetics* ; Microarray Analysis ; Central Nervous System Diseases ; Cysts ; Chromosome Aberrations ; Ultrasonography, Prenatal/methods*

OBJECTIVE: To explore the genetic characteristics of a fetus with a high risk by maternal serum screening during the second trimester. METHODS: Genetic counseling was provided to the pregnant woman on March 22, 2020 at Henan Provincial People's Hospital. G-banded chromosomal karyotyping and array comparative genomic hybridization (aCGH) were carried out on the amniotic fluid sample and peripheral blood samples from the couple. RESULTS: The fetus and the pregnant woman were respectively found to have a 46,XX,der(6)t(6;14)(q27;q31.2) and 46,XX,t(6;14)(q27;q31.2) karyotype, whilst the husband was found to have a normal karyotype. aCGH analysis has identified a 6.64 Mb deletion at 6q26q27 and a 19.98 Mb duplication at 14q31.3q32.33 in the fetus, both of which were predicted to be pathogenic copy number variations. No copy number variation was found in the couple. CONCLUSION The unbalanced chromosome abnormalities in the fetus have probably derived from the balanced translocation carried by the pregnant woman. aCGH can help to determine the types of fetal chromosome abnormalities and site of chromosomal breakage, which may facilitate the prediction of fetal outcome and choice for subsequent pregnancies.
Pregnancy ; Female ; Humans ; Comparative Genomic Hybridization ; DNA Copy Number Variations ; Translocation, Genetic ; Chromosome Aberrations ; Fetus ; Prenatal Diagnosis

OBJECTIVE: To assess the value of copy number variation sequencing (CNV-seq) for revealing the genetic etiology of fetuses with isolated ventricular septal defect (VSD). METHODS: From December 2017 to December 2020, 69 fetuses with isolated VSD were identified at the First Affiliated Hospital of Zhengzhou University. Meanwhile, 839 similar prenatal cases were selected from public databases including Wanfang data, Wanfang Medicine, and China National Knowledge Infrastructure (CNKI) by using keywords such as "Ventricular septal defect", "Copy number variation", and "Prenatal". A total of 908 fetuses with isolated VSD were analyzed. CNV-seq was carried out for 69 fetuses. RESULTS: Among the 908 fetuses, 33 (3.63%) were found to harbor pathogenic CNVs, which included 11 chromosomal aneuploidies (1.21%) and 22 pathogenic CNVs (2.42%). The pathogenic CNVs have involved 12 genetic syndromes, with those known to involve the heart development including 5 cases of 22q11.21 deletion syndrome, 2 cases of 4q terminal deletion syndrome, and 1 case of 9q subtelomere deletion syndrome. The outcome of pregnancies for 15 fetuses with pathogenic CNVs was known, of which 12 were terminated, and 3 had spontaneous closure of the ventricular septum after birth, but 1 of them had other abnormalities. CONCLUSION Fetuses with isolated VSD have a relatively high risk for chromosomal abnormalities, for which CNV-seq should be recommended.
Female ; Pregnancy ; Humans ; DNA Copy Number Variations ; Heart Septal Defects, Ventricular/genetics* ; 22q11 Deletion Syndrome ; Fetus

OBJECTIVE: To carry out genetic testing and prenatal diagnosis for a woman featuring moderate intellectual disability (ID). METHODS: The patient had presented at the First Affiliated Hospital of Zhengzhou University on April 28, 2021. With informed consent, peripheral blood and amniotic fluid samples were collected for the extraction of genomic DNA. Pathogenic copy number variations (CNVs) were detected with CNV-seq, and single gene variants were detected by whole exome sequencing (WES) and Sanger sequencing. Candidate variant was verified by Sanger sequencing, and CNV-seq and multiplex ligation-dependent probe amplification (MLPA) were used to detect fetal CNVs. RESULTS: The 23-year-old woman had moderate ID, sideway walking, and unstable holding. Ultrasonography at 18⁺³ weeks' gestation had revealed no fetal abnormality. No pathogenic CNV was detected in the woman by CNV-Seq, while WES revealed that she has harbored a heterozygous c.1675C>T (p.Arg559*) variant of the DLG4 gene, which was verified by Sanger sequencing. Based on guidelines from the American College of Medical Genetics and Genomics, the variant was predicted to be likely pathogenic (PVS1+PM2_supporting). Sanger sequencing has confirmed that the fetus has inherited this variant, and CNV-Seq also revealed that that fetus has harbored a 0.1 Mb heterozygous deletion at Xp21.1, which has encompassed the DMD gene, and the result was verified by MLPA. CONCLUSION The heterozygous c.1675C>T variant of the DLG4 gene probably underlay the mental retardation in this woman, and her fetus was found to harbor the same variant in addition with deletion of the DMD gene, which may predispose to ID type 62.
Female ; Humans ; Pregnancy ; Young Adult ; Disks Large Homolog 4 Protein ; DNA Copy Number Variations ; Fetus ; Genetic Testing ; Intellectual Disability/genetics* ; Pregnant Women

OBJECTIVE: To analyze the characteristics of antibody-specific distribution, laboratory detection results of hemolytic disease of the fetus and neonatal(HDFN) caused by irregular blood group antibodies other than ABO, and its correlation with the clinical situation. METHODS: The non-ABO-HDFN cases in our hospital from October 2012 to December 2021 were selected as the research objects, and the cases diagnosed with ABO-HDFN in the same period were randomly selected as the control group, and the data of antibody specific distribution, total bilirubin, direct antibodies, maternal history, age of the children, the presence or absence of combined ABO-HDFN, and whether to exchange/transfuse blood were retrospectively analyzed. The characteristics of non-ABO-HDFN in Jiangxi province were analyzed. RESULTS: The detection rate of non-ABO-HDFN in Jiangxi province increased. Among 187 non ABO-HDFN cases, the highest percentage of Rh-HDFN was detected (94.6%). Compared with the control group of ABO-HDFN, the non-ABO-HDFN had higher mean integral value of direct antibody, higher peak total bilirubin, and longer duration. Anti-M-HDFN may have severe disease but the direct antibody weak positive/negative, it was easy missed in clinical and delayed the treatment. There is no correlation between the specificity of irregular antibodies, the sex of the child, the mother's previous childbirth history, the presence or absence of combined ABO-HDFN and the need for blood exchange/transfusion(P>0.05). CONCLUSION The irregular antibodies of causing non ABO-HDFN in Jiangxi area are mainly Rh blood group system, followed by MNS blood group system. Understanding the characteristics of HDFN disease, serological features and the correlation with clinical indexes will help to detect and treat non ABO-HDFN in time and reduce the risk of complications.
Child ; Female ; Humans ; Infant, Newborn ; ABO Blood-Group System ; Blood Group Antigens ; Erythroblastosis, Fetal ; Fetus ; Hematologic Diseases/complications* ; Hemolysis ; Isoantibodies ; Retrospective Studies