Prenatal Diagnosis of an Apically Located Congenital Left Ventricular Aneurysm: A Rare Case

Congenital ventricular aneurysm is a very rare cardiac anomaly.A diagnosis can be made during the prenatal period using fetal echocardiography.This study presents a very rare apically located left ventricular aneurysm case,and the relevant literature was reviewed and discussed.In this case,a 35-year-old,gravida 2,parity 1 preg-nant woman at 24 weeks of gestation,displayed a wide aneurysmal image in the left ventricular apical wall on fetal echocardiography.There was a 1.79 mm muscular ventricular septal defect at the apical region of the interven-tricular septum.In the course of the color Doppler ultrasonography examination,an aberrantfibrous band within the left ventricle and consequent turbulentflow during systole were observed.The baby,born via cesarean section at 37 weeks of gestation,is now in its postnatal seventh month.However,during echocardiographic follow-ups,changes have been observed,including mild to moderate mitral insufficiency and a decrease in systolic function.Despite thesefindings,the clinical condition remains asymptomatic.It is of great importance to use a multidis-ciplinary approach in managing these rare cases that could lead to potential adverse outcomes during the antena-tal or postnatal periods.

Clinical manifestations and the prenatal diagnosis of trisomy 7 mosaicism:Two case reports

BACKGROUND The clinical manifestations of trisomy 7 mosaicism are diverse and nonspecific,so prenatal diagnosis is very difficult.CASE SUMMARY Two pregnant women with abnormal prenatal screening results were included.One was a 22-year-old woman(G1P0).At 31st week of gestation,ultrasound revealed that the posterior horn of the left lateral ventricle was 10 mm and the right renal pelvis had a separation of 7 mm.The other pregnant woman was 33 years old(G2P1L1A0),and her fetus was found to have a cardiac malformation at the 24th week of gestation.Copy number variation sequencing,whole-exome sequencing and karyotype analysis were carried out after amniocentesis,and both fetuses were diagnosed with trisomy 7 mosaicism.After parental counseling,one woman continued the pregnancy,and the other woman terminated the pregnancy.CONCLUSION In trisomy 7 mosaicism,the low proportion of trisomy does not lead to abortion,but can result in abnormal fetal development,which can be detected via ultrasound.Therefore,clinicians need to pay more attention to various aspects of fetal growth and development,combining with imaging,cellular,molecular genetics and other methods to perform comprehensive evaluations of fetuses to provide more reliable genetic counseling for pregnant women.

“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.

Invasive Procedures for Prenatal Diagnosis in Salmaniya Medical Complex in Bahrain: A Retrospective Cross-Sectional Descriptive Study

Background: Prenatal diagnosis is the process of evaluating the presence of disease or potential disease in the fetus, this enables families to be better prepared before the birth of the baby. There are non-invasive prenatal diagnosis procedures and invasive prenatal diagnosis procedures. The invasive prenatal diagnosis procedures are CVS (chorionic villus sampling) and amniocentesis. The American College of Obstetricians and Gynecologists states that invasive diagnostic testing should be available to all women, regardless of age or risk. Objective: To determine the indications, outcome and results of diagnostic invasive prenatal procedures. Study setting: The obstetrics and Gynecology Department in Salmaniya Medical Complex in Kingdom of Bahrain. Study design: Retrospective descriptive study. Study subjects and Methods: This retrospective descriptive study was conducted on 175 pregnant women who underwent invasive prenatal procedures (CVS and amniocentesis) between January 2013 and December 2018 at SMC in Kingdom of Bahrain. All medical records of the participants were reviewed and entered the study. According to the implemented procedures, medical records were categorized into two chorionic villus sampling (CVS) and amniocentesis groups. The study subject will include indications of the procedures which are advanced maternal age, hematological disorders, genetic disorders, metabolic disorders, abnormal structural findings in fetal ultrasound and previous child with aneuploidy. In addition, the study will address the complications, outcome and results of procedures. Results: About half of our indications of the procedures were due to hematological disorders (47.6%) followed by abnormal structural findings in fetal ultrasound (30.1%) then genetic disorders (15.7%), metabolic disorders (4.8%) and advanced maternal age (1.8%). Regarding complications of the procedure;threatened miscarriage or loss of pregnancy within 3 weeks was (2.3%), amniotic fluid leakage (0.7%), abdominal cramps (0.7%) and Insufficient or contaminated sample (6.2%). Regarding outcome of the pregnancy, our results showed that the loss of pregnancy was (4.8%), intrauterine fetal death or still birth was (13.9%), live birth was (63.9%), preterm delivery was (7.8%), preterm premature rupture of membrane (PPROM) was (1.8%), limbs reduction was (0.0%). Termination of pregnancy outside the country was (7.8%) of chorionic villus sampling and amniocentesis. Conclusion: CVS and amniocentesis are useful outpatient procedures to detect diagnosis or to assess whether a patient is at increased risk of having an affected fetus and that will minimize the psychological impact on the patient and to provide a proper antenatal care to the pregnant women by her obstetrician and follow up to the baby by pediatrician. In this study it was observed that most of the patients who underwent the procedure were couples either carrier or affected to sickle cell disease or Beta thalassemia.

Prenatal ultrasound diagnosis of fetal maxillofacial teratoma:Two case reports

BACKGROUND Facial teratoma is a rare benign tumor that accounts for about 1.6%of all teratomas and can be diagnosed by prenatal ultrasound(US).The purpose of this report was to describe our experience with the diagnosis of fetal facial teratoma by prenatal US at second trimester to provide a reference for clinical diagnosis of fetal maxillofacial teratoma.CASE SUMMARY We present two cases of patients with abnormal fetal facial findings on US at second trimester of pregnancy in our department.Case 1 was a 31-year-old G3 P1+1 female,with US revealing a heterogeneous echogenicity of 32 mm×20 mm×31 mm on the fetal face,most of it located outside the oral cavity and filling the root of the oral cavity.Case 2 was a 29-year-old G1P0 female,with fetal head and neck US revealing a cystic-solid echo mass measuring 42 mm×33 mm×44 mm,the upper edge of the lesion reaching the palate and filling the oral cavity.The contours of the lesions were visualized using three-dimensional(3D)US imaging.Both patients decided to give up treatment.Biopsies of the lesions were performed after induction of labor,and diagnosed as maxillofacial teratoma.CONCLUSION Fetal maxillofacial teratomas can be diagnosed by US in early pregnancy,allowing parents to expedite treatment decisions.

Prenatal ultrasonic characteristics and diagnosis of fetal Currarino syndrome:Report of 2 cases and review of literature

Objective To explore prenatal ultrasonic characteristics of fetal Currarino syndrome(CS)and methods for prenatal diagnosis of CS.Methods Two fetuses with CS confirmed by genetic examination were retrospectively analyzed,while 6 CS fetuses with complete prenatal ultrasonic data in literature were reviewed.Prenatal ultrasonic characteristics of CS fetuses and the method for prenatal diagnosis of CS were discussed.Results Among 8 CS fetuses diagnosed with prenatal ultrasound,4 were female singletons with a clear family history of CS,and MNX 1 gene mutation was found in 1 fetus.The other 4 fetuses were 2 pairs of male monochorionic twins,all with MNX 1 gene mutation.Among 8 CS fetuses,complete triad(sacral agenesis abnormalities,anorectal malformation and presacral mass)were displayed only in 2 fetuses,while all 8 had sacral agenesis abnormalities and 6(6/8,75.00%)were detected with prenatal ultrasound,6 had low location of conus medullaris and 2(2/6,33.33%)detected with prenatal ultrasound.Conclusion Prenatal ultrasound was the first choice for non-invasive diagnosis of fetal CS.When one of sacral agenesis abnormalities,anorectal malformation and presacral mass was found with prenatal ultrasound,the possibility of CS should be considered,and fetal MRI,genetic examination and prenatal genetic counselling should be recommended if necessary.

Movement analysis in the diagnosis and management of Parkinson’s disease

Challenges in the diagnosis and treatment of Parkinson’s disease:Parkinson’s disease(PD)is an increasingly prevalent neurodegenerative disease,at first sight primarily characterized by motor symptoms,although non-motor symptoms also constitute a major part of the overall phenotype.Clinically,this disease cannot be diagnosed reliably until a large part of the vulnerable dopaminergic neurons has been irretrievably lost,and the disease progresses inexorably.New biological criteria for PD have been proposed recently and might eventually improve early diagnosis,but they require further validation,and their use will initially be restricted to a research environment(Darweesh et al.,2024).

Visualizing traumatic brain injury:ocular clues for diagnosis and assessment

Traumatic brain injury (TBI) is defined as damage to the brain resulting from an external sudden physical force or shock to the head.It is considered a silent public health epidemic causing significant death and disability globally.There were 64,000 TBI related deaths reported in the USA in 2020,with about US$76 billion in direct and indirect medical costs annually.

Pathogenesis, diagnosis, and treatment of epilepsy: electromagnetic stimulation-mediated neuromodulation therapy and new technologies

Epilepsy is a severe,relapsing,and multifactorial neurological disorder.Studies regarding the accurate diagnosis,prognosis,and in-depth pathogenesis are crucial for the precise and effective treatment of epilepsy.The pathogenesis of epilepsy is complex and involves alterations in variables such as gene expression,protein expression,ion channel activity,energy metabolites,and gut microbiota composition.Satisfactory results are lacking for conventional treatments for epilepsy.Surgical resection of lesions,drug therapy,and non-drug interventions are mainly used in clinical practice to treat pain associated with epilepsy.Non-pharmacological treatments,such as a ketogenic diet,gene therapy for nerve regeneration,and neural regulation,are currently areas of research focus.This review provides a comprehensive overview of the pathogenesis,diagnostic methods,and treatments of epilepsy.It also elaborates on the theoretical basis,treatment modes,and effects of invasive nerve stimulation in neurotherapy,including percutaneous vagus nerve stimulation,deep brain electrical stimulation,repetitive nerve electrical stimulation,in addition to non-invasive transcranial magnetic stimulation and transcranial direct current stimulation.Numerous studies have shown that electromagnetic stimulation-mediated neuromodulation therapy can markedly improve neurological function and reduce the frequency of epileptic seizures.Additionally,many new technologies for the diagnosis and treatment of epilepsy are being explored.However,current research is mainly focused on analyzing patients’clinical manifestations and exploring relevant diagnostic and treatment methods to study the pathogenesis at a molecular level,which has led to a lack of consensus regarding the mechanisms related to the disease.

MicroRNAs as potential biomarkers for diagnosis of post-traumatic stress disorder

Post-traumatic stress disorder is a mental disorder caused by exposure to severe traumatic life events.Currently,there are no validated biomarkers or laboratory tests that can distinguish between trauma survivors with and without post-traumatic stress disorder.In addition,the heterogeneity of clinical presentations of post-traumatic stress disorder and the overlap of symptoms with other conditions can lead to misdiagnosis and inappropriate treatment.Evidence suggests that this condition is a multisystem disorder that affects many biological systems,raising the possibility that peripheral markers of disease may be used to diagnose post-traumatic stress disorder.We performed a PubMed search for microRNAs(miRNAs)in post-traumatic stress disorder(PTSD)that could serve as diagnostic biomarkers and found 18 original research articles on studies performed with human patients and published January 2012 to December 2023.These included four studies with whole blood,seven with peripheral blood mononuclear cells,four with plasma extracellular vesicles/exosomes,and one with serum exosomes.One of these studies had also used whole plasma.Two studies were excluded as they did not involve microRNA biomarkers.Most of the studies had collected samples from adult male Veterans who had returned from deployment and been exposed to combat,and only two were from recently traumatized adult subjects.In measuring miRNA expression levels,many of the studies had used microarray miRNA analysis,miRNA Seq analysis,or NanoString panels.Only six studies had used real time polymerase chain reaction assay to determine/validate miRNA expression in PTSD subjects compared to controls.The miRNAs that were found/validated in these studies may be considered as potential candidate biomarkers for PTSD and include miR-3130-5p in whole blood;miR-193a-5p,-7113-5p,-125a,-181c,and-671-5p in peripheral blood mononuclear cells;miR-10b-5p,-203a-3p,-4488,-502-3p,-874-3p,-5100,and-7641 in plasma extracellular vesicles/exosomes;and miR-18a-3p and-7-1-5p in blood plasma.Several important limitations identified in the studies need to be taken into account in future studies.Further studies are warranted with war veterans and recently traumatized children,adolescents,and adults having PTSD and use of animal models subjected to various stressors and the effects of suppressing or overexpressing specific microRNAs.

Autism spectrum disorder:difficulties in diagnosis and microRNA biomarkers

We performed a PubMed search for microRNAs in autism spectrum disorder that could serve as diagnostic biomarkers in patients and selected 17 articles published from January 2008 to December 2023,of which 4 studies were performed with whole blood,4 with blood plasma,5 with blood serum,1 with serum neural cell adhesion molecule L1-captured extracellular vesicles,1 with blood cells,and 2 with peripheral blood mononuclear cells.Most of the studies involved children and the study cohorts were largely males.Many of the studies had performed microRNA sequencing or quantitative polymerase chain reaction assays to measure microRNA expression.Only five studies had used real-time polymerase chain reaction assay to validate microRNA expression in autism spectrum disorder subjects compared to controls.The microRNAs that were validated in these studies may be considered as potential candidate biomarkers for autism spectrum disorder and include miR-500a-5p,-197-5p,-424-5p,-664a-3p,-365a-3p,-619-5p,-664a-3p,-3135a,-328-3p,and-500a-5p in blood plasma and miR-151a-3p,-181b-5p,-320a,-328,-433,-489,-572,-663a,-101-3p,-106b-5p,-19b-3p,-195-5p,and-130a-3p in blood serum of children,and miR-15b-5p and-6126 in whole blood of adults.Several important limitations were identified in the studies reviewed,and need to be taken into account in future studies.Further studies are warranted with children and adults having different levels of autism spectrum disorder severity and consideration should be given to using animal models of autism spectrum disorder to investigate the effects of suppressing or overexpressing specific microRNAs as a novel therapy.

Non-invasive Prenatal Diagnosis of Trisomy 21 by Dosage Ratio of Fetal Chromosome-specific Epigenetic Markers in Maternal Plasma

This study examined the methylation difference in AIRE and RASSF1A between maternal and placental DNA, and the implication of this difference in the identification of free fetal DNA in maternal plasma and in prenatal diagnosis of trisomy 21. Maternal plasma samples were collected from 388 singleton pregnancies, and placental or chorionic villus tissues from 112 of them. Methylation-specific PCR （MSP） and methylation-sensitive restriction enzyme digestion followed by fluorescent quantitative PCR （MSRE ＋ PCR） were employed to detect the maternal-fetal methylation difference in AIRE and RASSF1A. Diagnosis of trisomy 21 was established according to the ratio of fetal-specific AIRE to RASSF1A in maternal plasma. Both methods confirmed that AIRE and RASSF1A were hypomethylated in maternal blood cells but hypermethylated in placental or chorionic villus tissues. Moreover, the differential methylation for each locus could be seen during the whole pregnant period. The positive rates of fetal AIRE and RASSF1A in maternal plasma were found to be 78.1% and 82.1% by MSP and 94.8% and 96.9% by MSRE ＋ PCR. MSRE ＋ PCR was superior to MSP in the identification of fetal-specific hypermethylated sequences （P〈0.05）. Based on the data from 266 euploidy pregnancies, the 95% reference interval of the fetal AIRE/RASSF1A ratio in maternal plasma was 0.33-1.77, which was taken as the reference value for determining the numbers of fetal chromosome 21 in 102 pregnancies. The accu-racy rate in 98 euploidy pregnancies was 96.9% （95/98）. Three of the four trisomy 21 pregnancies were confirmed with this method. It was concluded that hypermethylated AIRE and RASSF1A may serve as fetal-specific markers for the identification of fetal DNA in maternal plasma and may be used for noninvasive prenatal diagnosis of trisomy 21.

Prenatal diagnosis of congenital fetal heart abnormalities and clinical analysis

Objective: To study the value of detecting fetal congenital heart disease (CHD) using the five transverse planes technique of fetal echocardiography. Methods: Nine hundred and eighty-two high-risk pregnancies for fetal CHD were included in this study, the fetal heart was scanned with the five transverse planes technique of fetal echocardiography described by Yagel, autopsy was conducted when pregnancy was terminated. Blood from fetal heart was collected for fetal chromosome analysis. A close follow-up was given for normal fetal heart pregnancies and neonatal echocardiography was performed to check the accuracy of prenatal diagnosis. Results: (1) Forty-six cases (4.68%) were found to have fetal heart abnormalities in this study, 69.56% of them were diagnosed by single four-chamber view, another 30.43% fetal CHD were found by combining other views; (2) Forty-one parents of prenatal fetuses with CHD chose to terminate pregnancy, thirty-two of them gave consent to conduct autopsy, 93.75% of which yielded unanimous conclusion between prenatal fetal echocardiography and autopsy; (3) Thirty-two of 46 cases underwent fetal chromosome analysis, 8 cases (25%) were found to have abnormal chromosome; (4) Five cases were found to have right ventricle and atrium a little bigger than those on the left side, with the unequal condition being the same after birth, but there were no clinical manifestations and they are healthy for the time being; (5) Nine hundred and thirty-six cases were not found with abnormality in this study, but one case was diagnosed with ventricular septal defect after birth, one case was diagnosed with patent ductus arteriosus, one case had atrial septal defect after birth. Conclusions: (1) The detected CHD rate was 4.68% by screening fetal heart with five transverse planes according to Yagel’s description of high risk population basis for CHD. The coinciding rate of prenatal diagnosis and autopsy was 93.75%; (2) The sensitivity of detecting fetal heart abnormality is 92%, the specificity is 99.6% using the five transverse planes technique of fetal echocardiography; (3) Fetuses with mild or moderate disproportion of right and left side in the heart are potentially healthy babies.

Prenatal diagnosis of choledochal cyst using magnetic resonance imaging: A case report

Choledochal cysts are congenital anomalies of the biliary ducts, characterized by cystic dilatation of the ducts.Prenatal diagnosis of this anomaly using ultrasonography (US) has been well documented. Magnetic resonance imaging (MRI) has recently become an important complement to US in prenatal diagnosis of fetal anomalies. We herein report a patient in whom at 24 wk' gestation US suggested a right upper quadrant abdominal cyst and in whom at 26 wk' gestation MRI more clearly delineated the cyst and its surrounding structures and suggested a choledochal cyst, which was confirmed at postnatal surgery and histopathology.

Prenatal diagnosis of spinocerebellar ataxia type 3/Machado-Joseph disease in China's Mainland A case report

Spinocerebellar ataxia type 3/Machado-Joseph disease （SCA3/MJD） is a progressive, currently untreatable and ultimately fatal ataxic disorder that belongs to the group of neurological disorders known as CAG-repeat or polyglutamine diseases. Here, we present the first prenatal diagnosis of SCA3/MJD in China's Mainland in a woman who was known to carry an expanded CAG-trinucleotide repeat in the MJD1 gene. After evaluating motivation and psychological tolerance of the couple, amniocentesis was performed after 14 weeks of gestation. Polymerase chain reactions followed by T-vector cloning and direct sequencing were employed to evaluate the CAG-repeat number of the fetal MJD1 gene. We identified a truncated CAG expansion of 78 repeats in the MJD1 gene of the fetus compared with 81 repeats in his mother.

Prenatal diagnosis of triphalangeal thumb-polysyndactyly syndrome by ultrasonography combined with genetic testing:A case report

BACKGROUND Triphalangeal thumb-polysyndactyly syndrome(TPT-PS)is a rare type of congenital limb deformity,and most studies focus on the genetics.Case reports of the sonographic characteristics of TPT-PS during pregnancy are rare.CASE SUMMARY A 30-year-old woman(G3P1)who had pregnancies with TPT-PS fetuses is presented.The possibility of TPT-PS was shown by ultrasound performed at the 19th wk of pregnancy,featuring hands with six metacarpals,an extra digit at the 5th finger side,and an abnormally widened thumb.Whole-exome sequencing was subsequently conducted.The results showed that exons 1-17 of the LMBR1 gene had a heterozygous duplication,with a length of approximately 253 kb.CONCLUSION We suggest prenatal ultrasound examination combined with genetic testing to diagnose TPT-PS accurately and to help clinicians and patients make decisions.

Prenatal diagnosis and assessment of congenital spinal anomalies: Review for prenatal counseling

The last two decades have seen continuous advances in prenatal ultrasonography and in utero magnetic resonance imaging. These technologies have increasingly enabled the identification of various spinal pathologies during early stages of gestation. The purpose of this paper is to review the range of fetal spine anomalies and their management, with the goal of improving the clinician's ability to counsel expectant parents prenatally.

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.

Enrichment of Fetal Nucleated Red Blood Cells by Multi-core Magnetic Composite Particles for Non-invasive Prenatal Diagnosis

A novel kind of multi-core magnetic composite particles, the surfaces of which were respectively mo- dified with goat-anti-mouse IgG and antitransferrin receptor（anti-CD71）, was prepared. The fetal nucleated red blood cells（FNRBCs） in the peripheral blood of a gravida were rapidly and effectively enriched and separated by the mo- dified multi-core magnetic composite particles in an external magnetic field. The obtained FNRBCs were used for the identification of the fetal sex by means of fluorescence in situ hybridization（FISH） technique. The results demonstrate that the multi-core magnetic composite particles meet the requirements for the enrichment and speration of FNRBCs with a low concentration and the accuracy of detetion for the diagnosis of fetal sex reached to 95%. Moreover, the obtained FNRBCs were applied to the non-invasive diagnosis of Down syndrome and chromosome 3p21 was de- tected. The above facts indicate that the novel multi-core magnetic composite particles-based method is simple, relia- ble and cost-effective and has opened up vast vistas for the potential application in clinic non-invasive prenatal diag- nosis.

Noninvasive Prenatal Diagnosis of Fetal Sex by Single-cell PEP-PCR Method

A new method for noninvasive prenatal diagnosis of fetal sex was developed by using single cell PEP PCR techniques. Micromamipulation techniques were used to obtain single fetal cells from 273 maternal blood samples. The genome of single cells was preamplified by PEP and SRY genes were analyzed by PCR method. The SRY genes of 149 samples were detected by the new method among 153 samples carrying male fetus, while 119 out of 120 samples carrying female fetus were proved negative for SRY genes. The sensitivity and specificity of the new method were 97.39 % and 99.17 % respectively and the correct rate was 98.17 %. The new method has the advantage of high sensitivity and specificity in noninvasive prenatal diagnosis of fetal sex and provides the basis of other researches such as sex linked inherited diseases.