A Preliminary Clinical Study of Three Dimensional Ultrasonography in Prenatal Diagnosis

To evaluate the clinical value of three dimensional ultrasonography (3DUS) in prenatal diagnosis, 134 pregnant women with high risk factors in second and third trimester were examined by 3DUS. The results showed that 3DUS could provide more diagnostic information, exclude the abnormalities and enhance the confidence level of physician in 102 normal pregnant women. 3DUS was helpful in the diagnosis in 17 (60.7 %) of 28 cases of fetal anomalies. However, 3DUS was not useful in evaluating intrauterine growth retardation in 4 cases. It is conclucded that 3DUS is helpful in prenatal diagnosis.

Prenatal ultrasonography and genetic analysis of fetal cleidocranial dysplasia:A case report

BACKGROUND Cleidocranial dysplasia(CCD)is an infrequent clinical condition with an autosomal dominant inheritance pattern.It is characterized by abnormal clavicles,patent sutures and fontanelles,supernumerary teeth,and short stature.Approximately 60%-70%of patients with CCD have mutations in the RUNX family transcription factor 2 gene.However,prenatal diagnosis of CCD is difficult when the family history is unknown.CASE SUMMARY We report a rare case of fetal CCD with an unknown family history,confirmed by prenatal ultrasonography and genetic testing at a gestational age of 16 weeks.The genetic reports indicated that the fetus carried pathogenic mutations in the RUNX family transcription factor 2 gene(c.674G>A).After careful consideration,the pregnant woman and her family decided to continue the pregnancy.CONCLUSION Definitive prenatal diagnosis of CCD should include family history,ultrasound diagnosis,and genetic analysis,especially if family history is unknown.

Routine prenatal ultrasonography: The pregnant woman’s expectations and perspectives on safety in a Central African obstetric population

Background: Pregnant women are important stakeholders regarding prenatal ultrasound (US) scanning. Their specific needs and preferences have to be ascertained by healthcare providers to ameliorate service delivery. Objective: To assess the pregnant woman’s expectations during routine prenatal US scan and her perspective ofUSsafety during pregnancy in a Central African obstetric population. Methods: A cross-sectional descriptive survey of consenting pregnant women who reported for routine prenatal US scan using an anonymous questionnaire. A convenient sample of 200 participants was adopted. Results: Thirty-three (16.8%) respondents (on a total of 196) declared they had never done anUSscan. One hundred and eleven (58.4%) on a total of 190 stated that they had not received any information on what ultrasonography is all about. Before theUSscan the respondents would like to receive information on the aim or purpose of ultrasonography, possible inconveniences or risks, and on how to prepare before the scan. The most reported expectations were assurance of the wellbeing of the fetus (58%), gender determination (44.5%) and information on fetal position (20.5%). Thirty-four respondents considered ultrasonography as not perfectly safe for the mother or the “baby”, with the relevant reasons being the use or production of some potentially harmful “rays”. Conclusion: Pregnant women would want to be assured of the wellbeing of the fetus, the gender and position during routine prenatal US. They however need to be informed of its purpose and safety.

Relationship between neonatal respiratory distress syndrome pulmonary ultrasonography and respiratory distress score,oxygenation index,and chest radiography grading

BACKGROUND Accurate condition assessment is critical for improving the prognosis of neonatal respiratory distress syndrome(RDS),but current assessment methods for RDS pose a cumulative risk of harm to neonates.Thus,a less harmful method for assessing the health of neonates with RDS is needed.AIM To analyze the relationships between pulmonary ultrasonography and respiratory distress scores,oxygenation index,and chest X-ray grade of neonatal RDS to identify predictors of neonatal RDS severity.METHODS This retrospective study analyzed the medical information of 73 neonates with RDS admitted to the neonatal intensive care unit of Liupanshui Maternal and Child Care Service Center between April and December 2022.The pulmonary ultrasonography score,respiratory distress score,oxygenation index,and chest Xray grade of each newborn before and after treatment were collected.Spearman correlation analysis was performed to determine the relationships among these values and neonatal RDS severity.RESULTS The pulmonary ultrasonography score,respiratory distress score,oxygenation index,and chest X-ray RDS grade of the neonates were significantly lower after treatment than before treatment(P<0.05).Spearman correlation analysis showed that before and after treatment,the pulmonary ultrasonography score of neonates with RDS was positively correlated with the respiratory distress score,oxygenation index,and chest X-ray grade(ρ=0.429–0.859,P<0.05).Receiver operating characteristic curve analysis indicated that pulmonary ultrasonography screening effectively predicted the severity of neonatal RDS(area under the curve=0.805–1.000,P<0.05).CONCLUSION The pulmonary ultrasonography score was significantly associated with the neonatal RDS score,oxygenation index,and chest X-ray grade.The pulmonary ultrasonography score was an effective predictor of neonatal RDS severity.

Interventional endoscopic ultrasonography for pancreatic cancer

Endoscopic ultrasonography(EUS)represents the combination of endoscopy and intraluminal ultrasonography.This allows use of a high-frequency transducer(5-20 MHz)that,due to the short distance to the target lesion,provides ultrasonographic images of higher resolution than those obtained from other imaging modalities,including multiple-detector-row-computed tomography,magnetic resonance imaging,and positron emission tomography.EUS is now a widely accepted modality for diagnosing pancreatic diseases.However,the most important limitation of EUS has been the lack of specificity in differentiating between benign and malignant changes.In 1992,EUS-guided fine needle aspiration(FNA)of lesions in the pancreas head was introduced into clinical practice,using a curved linear-array echoendoscope.Since then,EUS has evolved from EUS imaging to EUSFNA and wider applications.Interventional EUS for pancreatic cancer includes EUS-FNA,EUS-guided fine needle injection,EUS-guided biliary drainage and anastomosis,EUS-guided celiac neurolysis,radiofrequency ablation,brachytherapy,and delivery of a growing number of anti-tumor agents.This review focuses on interventional EUS,including EUS-FNA and therapeutic EUS for pancreatic cancer.

Prenatal assessment of normal fetal pulmonary grey-scale and lung volume by three-dimensional ultrasonography

Objective To quantitatively analyze the fetal lung echo and right lung volume in the third trimester by real-time three-dimensional ultrasound(3-D US)and evaluate the feasibility of fetal lung maturity.Methods A total of 732 women with normal singleton pregnancies between 28 and 42 weeks of gestation underwent ultrasound examination.The 3-D US equipment with a 3.5-5 MHz transabdominal transducer was used for the fetal biometric measurement.The echogenicity ratio between fetal lung and liver was compared.The fetal lung volume was calculated by the rotational multiplanar technique for volume measurement(VOCAL).Results The right fetal lung volume increased with the increase of gestational age with a linear positive correlation(r=0.884,P<0.01).After 34 weeks,the echogenicity ratio of fetal lung to liver was more than 1.1.Conclusion The echogenicity of lung/liver and fetal lung volume could be used as normal fetal predictable indicators for fetal lung maturity.

Prenatal diagnosis of isolated lateral facial cleft by ultrasonography and three-dimensional printing:A case report

BACKGROUND Lateral facial clefts are atypical with a low incidence in the facial cleft spectrum.With the development of ultrasonography(US)prenatal screening,such facial malformations can be detected and diagnosed prenatally rather than at birth.Although three-dimensional US(3DUS)can render the fetus'face via 3D reconstruction,the 3D images are displayed on two-dimensional screens without field depth,which impedes the understanding of untrained individuals.In contrast,a 3D-printed model of the fetus'face helps both parents and doctors develop a more comprehensive understanding of the facial malformation by creating more interactive aspects.Herein,we present an isolated lateral facial cleft case that was diagnosed via US combined with a 3D-printed model.CASE SUMMARY A 31-year-old G2P1 patient presented for routine prenatal screening at the 22nd wk of gestation.The coronal nostril-lip section of two-dimensional US(2DUS)demonstrated that the fetus'bilateral oral commissures were asymmetrical,and left oral commissure was abnormally wide.The left oblique-coronal section showed a cleft at the left oral commissure which extended to the left cheek.The results of 3DUS confirmed the cleft.Furthermore,we created a model of the fetal face using 3D printing technology,which clearly presented facial malformations.The fetus was diagnosed with a left lateral facial cleft,which was categorized as a No.7 facial cleft according to the Tessier facial cleft classification.The parents terminated the pregnancy at the 24th wk of gestation after parental counseling.CONCLUSION In the diagnostic course of the current case,in addition to the traditional application of 2D and 3DUS,we created a 3D-printed model of the fetus,which enhanced diagnostic evidence,benefited the education of junior doctors,improved parental counseling,and had the potential to guide surgical planning.

Endoscopic ultrasonography-related diagnostic accuracy and clinical significance on small rectal neuroendocrine neoplasms

This research aimed to examine the diagnostic accuracy and clinical significance of endoscopic ultrasonography(EUS)in the context of small rectal neuroendocrine neoplasms(NENs).A total of 108 patients with rectal subepithelial lesions(SELs)with a diameter of<20 mm were included in the analysis.The diagnosis and depth assessment of EUS was compared to the histology findings.The prevalence of NENs in rectal SELs was 78.7%(85/108).The sensitivity of EUS in detecting rectal NENs was 98.9%(84/85),while the specificity was 52.2%(12/23).Overall,the diagnostic accuracy of EUS in identifying rectal NENs was 88.9%(96/108).The overall accuracy rate for EUS in assessing the depth of invasion in rectal NENs was 92.9%(78/84).Therefore,EUS demonstrates reasonable diagnostic accuracy in detecting small rectal NENs,with good sensitivity but inferior specificity.EUS may also assist physicians in assessing the depth of invasion in small rectal NENs before endoscopic excision.

Double contrast-enhanced ultrasonography improves diagnostic accuracy of T staging compared with multi-detector computed tomography in gastric cancer patients

BACKGROUND Gastric cancer(GC)is the most common malignant tumor and ranks third for cancer-related deaths among the worldwide.The disease poses a serious public health problem in China,ranking fifth for incidence and third for mortality.Knowledge of the invasive depth of the tumor is vital to treatment decisions.AIM To evaluate the diagnostic performance of double contrast-enhanced ultrasonography(DCEUS)for preoperative T staging in patients with GC by comparing with multi-detector computed tomography(MDCT).METHODS This single prospective study enrolled patients with GC confirmed by preoperative gastroscopy from July 2021 to March 2023.Patients underwent DCEUS,including ultrasonography(US)and intravenous contrast-enhanced ultrasonography(CEUS),and MDCT examinations for the assessment of preoperative T staging.Features of GC were identified on DCEUS and criteria developed to evaluate T staging according to the 8th edition of AJCC cancer staging manual.The diagnostic performance of DCEUS was evaluated by comparing it with that of MDCT and surgical-pathological findings were considered as the gold standard.RESULTS A total of 229 patients with GC(80 T1,33 T2,59 T3 and 57 T4)were included.Overall accuracies were 86.9%for DCEUS and 61.1%for MDCT(P<0.001).DCEUS was superior to MDCT for T1(92.5%vs 70.0%,P<0.001),T2(72.7%vs 51.5%,P=0.041),T3(86.4%vs 45.8%,P<0.001)and T4(87.7%vs 70.2%,P=0.022)staging of GC.CONCLUSION DCEUS improved the diagnostic accuracy of preoperative T staging in patients with GC compared with MDCT,and constitutes a promising imaging modality for preoperative evaluation of GC to aid individualized treatment decision-making.

Intraoperative cholangio-ultrasonography(IOCUS)during hepatectomy with resection of the biliary confluence:An effective alternative to intraoperative cholangiography

Intraoperative ultrasonography(IOUS)in hepatobiliary surgery is well known as an essential tool for radical and safe hepatectomies,allowing to perform parenchymal sparing surgery and,as consequence,to expand the surgical indications for patients otherwise considered unresectable.Nevertheless,since many years,despite its effectiveness in the study of vascular anatomy of the liver,the gold standard for the assessment of biliary anatomy during surgery is intraoperative cholangiography(IOC),which is used for the validation of preoperative imaging as well as for guiding reconstruction in case of bile duct injury or resection.

Beta-HCG Levels and Ovarian Ultrasonography Results among Non-Pregnant Women of Reproductive Age in Port Harcourt, Nigeria: A Cross-Sectional Study

Background: Certain ovarian cancers that were previously common in postmenopausal women are now increasingly observed in women of reproductive age. The research on using β-HCG as a diagnostic biomarker for ovarian cancer in women of reproductive age is ongoing. Aim: This study assessed the level of serum β-HCG in non-pregnant women of reproductive age and determined its potential association with suspicious ovarian ultrasonography results. Methods: The study was conducted in Port Harcourt, Nigeria. This study adopted a cross-sectional design on a quota sample of 224 case notes of women aged 18 - 40 years obtained from eight diagnostic centres. A data extraction form was used for data collection. Data analysis employed descriptive statistics, Chi-square, Fisher’s exact test, and Odds Ratio at 95% confidence and 5% significance levels. Results: About 5.8% of the participants exhibited detectable levels of serum β-HCG above 5 IU/L (World Health Organization reference) at a mean concentration of 5.87 (±1.75) IU/L. About 4.0% of the participants had suspicious ovarian lesions identified through ultrasonography. Participants with elevated serum β-HCG levels above the WHO reference were 59 times more likely to have suspicious ovarian lesions (Odds ratio: 59.4, 95%CI: 12.3 - 287.8, p β-HCG level and age (p = 0.041) as well as parity (p Conclusion: Serum β-HCG levels above the WHO reference in non-pregnant women were associated with suspicious ovarian lesions. More rigorous primary research, systematic reviews, and meta-analyses are needed to confirm the findings of this study.

“Keyboard sign”and“coffee bean sign”in the prenatal diagnosis of ileal atresia:A case report

BACKGROUND Ileal atresia is a congenital abnormality where there is significant stenosis or complete absence of a portion of the ileum.The overall diagnostic accuracy of prenatal ultrasound in detecting jejunal and ileal atresia is low.We report a case of ileal atresia diagnosed prenatally by ultrasound examination with the“keyboard sign”and“coffee bean sign”.CASE SUMMARY We report a case of ileal atresia diagnosed in utero at 31 weeks'of gestation.Prenatal ultrasound examination revealed two rows of intestines arranged in an‘S’shape in the middle abdomen.The inner diameters were 1.7 cm and 1.6 cm,respectively.A typical“keyboard sign”was observed.The intestine canal behind the“keyboard sign”showed an irregular strong echo.There was no normal intestinal wall structure,showing a typical“coffee bean sign”.Termination of the pregnancy and autopsy findings confirmed the diagnosis.CONCLUSION The prenatal diagnosis of ileal atresia is difficult.The sonographic features of the“keyboard sign”and“coffee bean sign”are helpful in diagnosing the location of congenital jejunal and ileal atresia.

Perioperative and long-term results of ultrasonography-guided single-and multiple-tract percutaneous nephrolithotomy for staghorn calculi

BACKGROUND It is possible that this condition will lead to urosepsis and progressive deterioration of renal function in the absence of surgical intervention.Several recent clinical studies have shown that multi-tract percutaneous nephrolithotomy(MPCNL)has a similar stone free rate(SFR)as standard percutaneous nephrolithotomy(S-PCNL).As a result,M-PCNL was also recommended as a treatment option for staghorn calculi.AIM To examine the perioperative and long-term results of ultrasonography-guided single-and M-PCNL.METHODS This was a retrospective cohort study.Between March 2021 and January 2022,the urology department of our hospital selected patients for the treatment of staghorn calculi using percutaneous nephrolithotomy.The primary outcomes were com plication rate and SFR,and the characteristics of patients,operative parameters,laboratory measurements were also collected.RESULTS In total,345 patients were enrolled in the study(186 in the S-PCNL group and 159 in the M-PCNL group).The SFR in the M-PCNL group was significantly higher than that in the S-PCNL group(P=0.033).Moreover,the incidence rates of hydrothorax(P=0.03)and postoperative infection(P=0.012)were higher in the M-PCNL group than in the S-PCNL group.Logistic regression analysis demonstrated that post-operative white blood cell count(OR=2.57,95%CI:1.90-3.47,P<0.001)and stone size(OR=1.59,95%CI:1.27-2.00,P<0.001)were associated with a higher overall complication rate in the S-PCNL group.Body mass index(OR=1.22,95%CI:1.06-1.40,P=0.004)and stone size(OR=1.70,95%CI:1.35-2.15,P<0.001)were associated with increased overall complications in the M-PCNL group.CONCLUSION Multiple access tracts can facilitate higher SFR while slightly increasing the incidence of acceptable complications.

Correlation of dynamic contrast-enhanced ultrasonography and the Ki-67 labelling index in pancreatic ductal adenocarcinoma

BACKGROUND Pancreatic ductal adenocarcinoma(PDAC)is a highly malignant and aggressive tumor,and high Ki-67 expression indicates poor histological differentiation and prognosis.Therefore,one of the challenges in diagnosing preoperatively patients with PDAC is predicting the degree of malignancy.Dynamic contrast-enhanced ultrasonography(DCE-US)plays a crucial role in abdominal tumor diagnosis,and can adequately show the microvascular composition within the tumors.However,the relationship between DCE-US and the Ki-67 labelling index remains unclear at the present time.AIM To predict the correlation between Ki-67 expression and the parameters of DCEUS.METHODS Patients with PDAC who underwent DCE-US were retrospectively analyzed.Patients who had received any treatment(radiotherapy or chemotherapy)prior to DCE-US;had incomplete clinical,imaging,or pathologic information;and had poor-quality image analysis were excluded.Correlations between Ki-67 expression and the parameters of DCE-US in patients with PDAC were assessed using Spearman’s rank correlation analysis.The diagnostic performances of these parameters in high Ki-67 expression group were evaluated according to receiver operating characteristic curve.RESULTS Based on the Ki-67 labelling index,30 patients were divided into two groups,i.e.,the high expression group and the low expression group.Among the relative quantitative parameters between the two groups,relative half-decrease time(rHDT),relative peak enhancement,relative wash-in perfusion index and relative wash-in rate were significantly different between two groups(P=0.018,P=0.025,P=0.028,P=0.035,respectively).The DCE-US parameter rHDT was moderately correlated with Ki-67 expression,and rHDT≥1.07 was more helpful in accurately diagnosing high Ki-67 expression,exhibiting a sensitivity and specificity of 53.8%and 94.1%,respectively.CONCLUSION One parameter of DCE-US,rHDT,correlates with high Ki-67 expression.It demonstrates that parameters obtained noninvasively by DCE-US could better predict Ki-67 expression in PDAC preoperatively.

Clinical value of oral contrast-enhanced ultrasonography in diagnosis of gastric tumors

BACKGROUND The incidence of gastric cancer remains high,and it is the sixth most common cancer and the fourth leading cause of cancer deaths worldwide.Oral contrastenhanced ultrasonography is a simple,non-invasive,and painless method for the diagnosis of gastric tumors.AIM To explore the diagnostic value of oral contrast-enhanced ultrasonography for the detection of gastric tumors.METHODS The screening results based on oral contrast-enhanced ultrasonography and electronic gastroscopy were compared with those of the postoperative pathological examination.RESULTS Among 42 patients with gastric tumors enrolled in the study,the diagnostic accordance rate was 95.2%for oral contrast-enhanced ultrasonography(n=40)and 90.5%for electronic gastroscopy(n=38)compared with postoperative pathological examination.The Kappa value of consistency test with pathological findings was 0.812 for oral contrast-enhanced ultrasonography and 0.718 for electronic gastroscopy,and there was no significant difference between them(P=0.397).For the TNM staging of gastric tumors,the accuracy rate of oral contrast enhanced ultrasonography was 81.9%for the overall T staging and 50%,77.8%,100%,and 100%for T1,T2,T3,and T4 staging,respectively.The sensitivity and specificity were both 100%for stages T3 and T4.The diagnostic accuracy rate of oral contrast-enhanced ultrasonography was 93.8%,80%,100%,and 100%for stages N0,N1-N3,M0,and M1,respectively.CONCLUSION The accordance rate of qualitative diagnosis by oral contrast-enhanced ultrasonography is comparable to that of gastroscopy,and it could be used as the preferred method for the early screening of gastric tumors.

Dynamic ultrasonography for optimizing treatment position in superior mesenteric artery syndrome:Two case reports and review of literature

BACKGROUND Superior mesenteric artery(SMA)syndrome is a rare cause of duodenal obstruction by extrinsic compression between the SMA and the aorta(SMA-Ao).Although the left lateral recumbent position is considered effective in the treatment of SMA syndrome,individual variations in the optimal patient position have been noted.In this report,we present two elderly cases of SMA syndrome that exhibited rapid recovery due to ultrasonographic dynamic evaluation of the optimal position for each patient.CASE SUMMARY Case 1:A 90-year-old man with nausea and vomiting.Following diagnosis of SMA syndrome by computed tomography(CT),ultrasonography(US)revealed the SMA-Ao distance in the supine position(4 mm),which slightly improved in the lateral position(5.7–7.0 mm)without the passage of duodenal contents.However,in the sitting position,the SMA-Ao distance was increased to 15 mm accompanied by improved content passage.Additionally,US indicated enhanced passage upon abdominal massage on the right side.By day 2,the patient could eat comfortably with the optimal position and massage.Case 2:An 87-year-old woman with vomiting.After the diagnosis of SMA syndrome and aspiration pneumonia by CT,dynamic US confirmed the optimal position(SMA-Ao distance was improved to 7 mm in forward-bent position,whereas it remained at 5 mm in the supine position).By day 7 when her pneumonia recovered,she could eat with the optimal position.CONCLUSION The optimal position for SMA syndrome varies among individuals.Dynamic US appears to be a valuable tool in improving patient outcomes.

Point of care ultrasonography as the new“Laennec Sthetoscope”

Point of care ultrasonography(POCUS)has evolved to become the fifth pillar of the conventional physical examination,and use of POCUS protocols have significantly decreased procedure complications and time to diagnose.However,lack of experience in POCUS by preceptors in medical schools and nephrology residency programs are significant barriers to implement a broader use.In rural and low-income areas POCUS may have a transformative effect on health care management.

Point-of-care ultrasonography spotlight:Could venous excess ultrasound serve as a shared language for internists and intensivists?

Point-of-care ultrasonography(POCUS),particularly venous excess ultrasound(VExUS)is emerging as a valuable bedside tool to gain real-time hemodynamic insights.This modality,derived from hepatic vein,portal vein,and intrarenal vessel Doppler patterns,offers a scoring system for dynamic venous congestion assessment.Such an assessment can be crucial in effective management of patients with heart failure exacerbation.It facilitates diagnosis,quantification of congestion,prognostication,and monitoring the efficacy of decongestive therapy.As such,it can effectively help to manage cardiorenal syndromes in various clinical settings.Extended or eVExUS explores additional veins,potentially broadening its applications.While VExUS demonstrates promising outcomes,challenges persist,particularly in cases involving renal and liver parenchymal disease,arrhythmias,and situations of pressure and volume overload overlap.Proficiency in utilizing spectral Doppler is pivotal for clinicians to effectively employ this tool.Hence,the integration of POCUS,especially advanced applications like VExUS,into routine clinical practice necessitates enhanced training across medical specialties.

Sound waves and solutions:Point-of-care ultrasonography for acute kidney injury in cirrhosis

This article delves into the intricate challenges of acute kidney injury(AKI)in cirrhosis,a condition fraught with high morbidity and mortality.The complexities arise from distinguishing between various causes of AKI,particularly hemodynamic AKI,in cirrhotic patients,who experience hemodynamic changes due to portal hypertension.The term"hepatocardiorenal syndrome"is introduced to encapsulate the intricate interplay among the liver,heart,and kidneys.The narrative emphasizes the often-overlooked aspect of cardiac function in AKI assessments in cirrhosis,unveiling the prevalence of cirrhotic cardiomyopathy marked by impaired diastolic function.The conventional empiric approach involving volume expansion and vasopressors for hepatorenal syndrome is critically analyzed,highlighting potential risks and variable patient responses.We advocate for a nuanced algorithm for AKI evaluation in cirrhosis,prominently featuring point-of-care ultrasonography(POCUS).POCUS applications encompass assessing fluid tolerance,detecting venous congestion,and evaluating cardiac function.

Relationship Between Gene-Phenotype and Clinical Manifestations of Chromosomal Copy Number Variations Indicated by Non-Invasive Prenatal Testing

Objective:To analyze the clinical value of non-invasive prenatal testing(NIPT)in detecting chromosomal copy number variations(CNVs)and to explore the relationship between gene expression and clinical manifestations of chromosomal copy number variations.Methods:3551 naturally conceived singleton pregnant women who underwent NIPT were included in this study.The NIPT revealed abnormalities other than sex chromosome abnormalities and trisomy 13,18,and 21.Pregnant women with chromosome copy number variations underwent genetic counseling and prenatal ultrasound examination.Interventional prenatal diagnosis and chromosome microarray analysis(CMA)were performed.The clinical phenotypes and pregnancy outcomes of different prenatal diagnoses were analyzed.Additionally,a follow-up was conducted by telephone to track fetal development after birth,at six months,and one year post-birth.Results:A total of 53 cases among 3551 cases showed chromosomal copy number variation.Interventional prenatal diagnosis was performed in 36 cases:27 cases were negative and 8 were consistent with the NIPT test results.This indicates that NIPT’s positive predictive value(PPV)in CNVs is 22.22%.Conclusion:NIPT has certain clinical significance in screening chromosome copy number variations and is expected to become a routine screening for chromosomal microdeletions and microduplications.However,further interventional prenatal diagnosis is still needed to identify fetal CNVs.