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Objective To analyze the relationship between group B streptococcus (GBS) infection, vaginal microecological changes and adverse pregnancy outcomes of pregnant women. Methods The data of 202 pregnant women with GBS infection (the positive group) and 202 pregnant women without GBS infection (the negative group) in the third trimester of pregnancy were collected. The general data, vaginal microecology and adverse pregnancy outcomes were compared between the two groups. According to the results of vaginal microecological examination, patients in the two groups were divided into the positive normal group (76 cases), the positive imbalance group (126 cases), the negative normal group (154 cases) and the negative imbalance group (48 cases). Pregnant women in the positive group were treated with antibiotics immediately after premature rupture of membranes, and pregnant women without premature rupture of membranes were treated with antibiotics after labor. Pregnant women with trichomonas vaginitis or fungal vaginitis or bacterial vaginosis were given nifuratel nystatin vaginal soft capsules for treatment. The adverse pregnancy outcomes were compared between the four groups. Results Compared with the negative group, the proportion of gestational diabetes mellitus, proportion of pH value＞ 4.5, detection rates of mycotic vaginitis and bacterial vaginosis, premature delivery rate, premature membrane rupture rate, postpartum hemorrhage rate and fetal intrauterine distress rate were higher in the positive group (P＜0.05). The premature delivery rate, premature membrane rupture rate, puerperal infection rate and fetal intrauterine distress rate were higher in the negative imbalance group than those in the negative normal group (P＜0.05), and the positive imbalance group had higher premature delivery rate, premature membrane rupture rate, postpartum hemorrhage rate, puerperal infection rate, fetal intrauterine distress rate, intrauterine infection rate and neonatal infection rate (P＜0.05). Compared with the negative imbalance group, the premature delivery rate, premature membrane rupture rate and fetal intrauterine distress rate were lower in the positive normal group, and those were higher in the positive imbalance group (P＜0.05). The positive imbalance group had higher rates of premature delivery, premature membrane rupture and fetal intrauterine distress compared to the positive normal group (P＜0.05). Conclusion GBS infection in the third trimester of pregnancy increases the incidence of adverse pregnancy outcomes, and vaginal microecological imbalance its synergies promote of adverse pregnancy outcomes. [ABSTRACT FROM AUTHOR]

Objective: To investigate the carrier status of monogenic genetic diseases in couples of childbearing age in Gansu, and to carry out genetic counseling and prenatal diagnosis for high -risk families. Methods: A total of 887 couples of childbearing age who were recruited in Gansu Province Maternity and Child Care Hospital from January 2021 to December 2023 were included. Expanded carrier screening (ESC) for 100 single-gene recessive genetic diseases were detected by the target region capture-NGS detection technology. When the mothers of the three families were pregnant, 15 mL of amniotic fluid was drawn at 18-21 weeks of pregnancy for prenatal genetic diagnosis. Results: Among 887 couples of childbearing age, 31 high -risk couples were detected, of which 25 couples were at high risk of autosomal recessive genetic disease and 6 couples were at high risk of X-linked recessive genetic disease. Of the 1 774 persons (887 couples), 678 cases were carriers of autosomal recessive genetic diseases. The prevalence of GJB2 gene was the highest in high-risk couples, followed by PAH gene and CFTR gene. Among the 31 positive couples, 3 couples underwent prenatal diagnosis during pregnancy. One case was a fetus with cystic fibrosis, and the couple′s family chose to terminate the pregnancy. One case was a carrier and one case wild type, their neonatal phenotypes were normal. Conclusions: ECS for couples of childbearing age is helpful to implement the accurate prenatal diagnosis and fertility guidance, which is of great significance in reducing birth defects. [ABSTRACT FROM AUTHOR]

Objective: To conduct clinical and molecular genetic analysis in a Chinese family with familial polysyndactyly. Methods: A pregnant woman with fetal polysyndactyly was enrolled in this study, amniocentesis was performed at Quanzhou Women′s and Children′s Hospital for prenatal diagnosis at the gestational age of 24+5 weeks. Chromosomal karyotype analysis was performed to reveal fetal chromosomal abnormalities. Subsequently, whole exome sequencing (WES) was carried out to analyze sequence variations. Quantitative real time polymerase chain reaction (qPCR) was use to confirm the detected microdeletion/microduplication. Results: The fetal chromosome karyotype results elicited a normal karyotype result. However, WES demonstrated an 803.7 kb fragment duplication (seq[GRCh37]7q36.3(155865332_156669022)×3) in the 7q36.3 region in the fetus, which covering RNF32 and LMBR1 (exon 2 to exon 17). According to the American College of Medical Genetics and Genomics (ACMG) guidelines, the 7q36.3 duplication was interpreted as pathogenic copy number variants. The subsequent qPCR verification indicated that the duplication was inherited from the father who had similar clinical phenotype. Conclusions: Our findings further confirm that 7q36.3 microduplication is the genetic cause for fetal polysyndactyly, which may lead to triphalangeal thumb -polysyndactyly syndrome, LMBR1 may be the main effector gene. [ABSTRACT FROM AUTHOR]

Objective: To explore the clinical significance of noninvasive prenatal screening (NIPS) in screening the rare autosomal trisomies (RAT) and chromosome copy number variation (CNV). Methods: The amniotic fluid karyotype analysis and single nucleotide polymorphism array were performed at the Prenatal Diagnostic Center of Quanzhou Women′s and Children′s Hospital from March 2017 to July 2023, in 108 cases that NIPS suggested high risk of RAT and (or) CNV. Results: In the 83 cases of NIPS suggesting high risk of RAT, 15 abnormal RAT were found by prenatal diagnosis, with a positive predictive value of 18.07% . There were 1 pathogenic copy number variants (pCNV), 9 variants of uncertain significance (VOUS), 4 loss of heterozygosity (LOH) and 1 VOUS+LOH. In 25 cases of NIPS suggesting high risk of CNV, 16 abnormal CNV were indicated by prenatal diagnosis, with a positive predictive value of 64.00%. There were 11 pCNV, 1 likely pathogenic copy number variants (lpCNV) and 4 VOUS. Conclusions: The positive predictive value of NIPS is not high in RAT, but the high risk of RAT is associated with the increasing adverse pregnancy outcomes. NIPS has a certain application value for the high risk screening of CNV. When NIPS suggested high risk of RAT and CNV, fetal prognosis should be evaluated in the combination of prenatal diagnosis with ultrasound follow-up, and monitoring and management of pregnancy should be strengthened. [ABSTRACT FROM AUTHOR]

Background Chromosomal abnormalities are one of the common causes of birth defects, and karyotype analysis is still an important method for prenatal diagnosis of chromosomal abnormalities as well as an effective way to prevent and control birth defects. However, karyotype analysis, especially chromosomal image segmentation and classification mainly depends on manual work at present, which is laborious and time-consuming. As an emerging approach to karyotype analysis, it is of great significance to investigate the application value of artificial intelligence (AI) in prenatal chromosomal karyotype diagnosis. Objective To investigate the application effect and clinical value of AI in prenatal karyotype diagnosis. Methods A total of 1 000 pregnant women who received interventional prenatal diagnosis and karyotype analysis of amniotic fluid cells in the department of medical genetics and prenatal diagnosis of Wuxi Maternity and Child Health Care Hospital between 2020 and 2022 were selected as the study subjects. The karyotype analysis of all cases was performed using two-line mode, the results of the AI reading were reviewed by one geneticist in the first line, and another geneticist analyzed the karyotypes by Ikaros karyotype analysis workstation in the second line, the diagnostic results and time were recorded respectively. The final diagnosis of the samples were based on the manual review of the first line and the manual reading of the second line. Results Among the 1 000 amniotic fluid samples, 735 cases were diagnosed as normal karyotype, 233 cases as aneuploidy, 0 case as structural abnormality and 32 cases as mosaicism by AI. The numbers of normal karyotype, aneuploidy, structural abnormality and mosaicism assessed by AI-assisted geneticist were 689, 233, 45 and 33, which were completely consistent with those evaluated by geneticist using Ikaros system. Compared with AI-assisted geneticist, AI-based diagnosis had strong consistency (Kappa=0.895, 95%CI=0.866-0.924, P

Corpus callosum is an important indicator to assess the normal development of the brain, and it is also a hot spot in the field of prenatal diagnosis at home and abroad. Among the imaging methods used to assess the development of corpus callosum before prenatum, fetal cranial ultrasound has the advantages of rapidity, safety, good reproducibility and dynamic observation. Magnetic resonance imaging（MRI） is intuitive, accurate and comprehensive, but it is affected by factors such as fetal movement, and is expensive and not widely used. This article reviewed and analyzed the results of recent studies on the evaluation of fetal corpus callosum development by imaging techniques at home and abroad, aiming to analyze and compare the clinical application value of the two methods in prenatal diagnosis. [ABSTRACT FROM AUTHOR]

We report a case in which prune belly syndrome (PBS) was detected by ultrasound examination at 13 weeks of gestation. The woman was pregnant for the first time and had no related genetic history in her family. No obvious abnormality was found by examination before 12 weeks of gestation. The fetal bladder was enlarged and protruded in the abdominal wall detected by ultrasound examination at 12 weeks of gestation. After 2 weeks, the fetal heart beat disappeared and the labor was induced. At present, the etiology and pathogenesis of PBS have not been specifically clarified. It is mostly considered that PBS could be caused by severe bladder outlet obstruction or mesoderm developmental defects secondary to 6 to 10 weeks of pregnancy. This case was analyzed and relevant literatures were reviewed in this paper. To discuss the etiology, pathogenesis, clinical manifestations and treatment of PBS will provide us more references for the clinical understanding, multidisciplinary management and individualized treatment of PBS. [ABSTRACT FROM AUTHOR]

Objective: To investigate the status of prenatal diagnosis of pregnant women at high risk of fetal sex chromosomal aneuploidy (SCA) by noninvasive prenatal testing (NIPT), and the acceptance of SCA fetuses and pregnancy decision among them. Methods: Assemble basic information of 23 804 pregnant women who voluntarily came to Tianjin Women′s and Children′s Health Center for NIPT testing from December 2019 to February 2023, and conducted retrospective analysis for the interventional prenatal diagnosis and delivery of pregnant women with high risk of fetal SCA suggested by NIPT. Results: The positive rate of NIPT was 0.30% (72/23 730). Among the 72 pregnant women with high risk of fetal SCA detected by NIPT, only 44 cases (61.11%) underwent interventional prenatal diagnosis (all of whom underwent amniocentesis), then 25 cases were confirmed of SCA, with the total positive predictive value (PPV) of 56.82% (25/44). The overall PPV of NIPT for sex chromosomal trisomy syndrome was 95.45% (21/22), and the PPV for sex chromosomal monosomy syndrome was 13.64% (3/22), and the difference between the two groups was statistically significant ( χ²=29.700, P＜0.001). Among the patients diagnosed with SCA, 13 cases chose to continue their pregnancies, and all of them had live births at term. The pregnancy termination rates varied for SCA of different subtypes following prenatal diagnosis (47, XXX 20%, 47, XXY 100%, 47, XYY 40%, 45, X 100%). 28 pregnant women who refused to undergo interventional prenatal diagnosis were followed up. 2 cases were lost to follow-up in the third trimester; 1 case of spontaneous abortion did not undergo relevant genetic testing; 1 case was induced due to fetal pleural effusion and omphalocele detected by ultrasound, and the fetus was induced without relevant testing. 24 full-term live births (one of them was followed up half a year after delivery: chromosomal karyotype analysis was performed due to genital problems, and 47, XXY was confirmed). Conclusions: Genetic counseling for high risk of fetal SCA should be comprehensive and cautious. For pregnant women diagnosed with fetal SCA who choose to continue their pregnancy and pregnant women who refuse prenatal diagnosis, comprehensive prenatal monitoring during pregnancy, as well as health management of fetal growth and development monitoring and intervention after delivery, should be provided. [ABSTRACT FROM AUTHOR]

Objective: To confirm the potential etiological factors of congenital aortic stenosis (AS) by genetic analysis on prenatal diagnostic results of the fetus with AS. Methods: Amniocentesis for chromosomal G-band karyotyping combinated with single nucleotide polymorphism array (SNP-array) analysis was conducted on the amniotic fluid collected from a 25-week pregnant woman diagnosed as “fetus AS”； chromosome karyotyping was also performed on the peripheral blood of the fetal parents. Results: The fetal karyotype analysis showed a chimeric Y-chromosome isobaric double-adherent granules. The SNP-array analysis results revealed a 11. 2 Mb duplication in the Yp11. 31q11. 21 region and a 14. 8 Mb deletion in the Yq11. 21q11. 23 region. Both the parents presented a normal karyotype, suggesting it was a newfound mutation. After extensive genetic counseling, the pregnant woman and her family chose to terminate the pregnancy locally. Conclusion: The chromosomal karyotype of the chimeric Y-chromosome isobaric double-adherent granules may be a contributing factor to the AS phenotype in the male fetus. The combined use of chromosomal karyotyping and SNP-array analysis on the amniotic cells is instrumental in the early diagnosis of the disease. [ABSTRACT FROM AUTHOR]

Mosaic embryo is the third type of embryo between euploid embryo and aneuploid embryo, which contains two or more genetically different cell lines. With the development of genetic technology, the next generation sequencing technology has a higher detection accuracy for mosaic embryos. The outcome of mosaic embryo transplantation is uncertain, and the rates of implantation failure and abortion are significantly higher than those of euploid embryo transplantation. There is still a great debate on whether mosaic embryo can be transferred. However, mosaic embryo transfer provides the possibility of fertility for patients with aneuploid embryos, so the studies with large sample and long -term follow -up will be the research hotspot. Although the Reproductive Medicine Branch of the Chinese Medical Association issued preimplantation genetic diagnosis / preimplantation genetic screening (PGD/PGS) guidelines in 2017-2018, there is still a lack of guidance on mosaic embryo transfer. This article reviews the current research status of mosaic embryo transfer. [ABSTRACT FROM AUTHOR]

13-trisomy syndrome is a serious and rare chromosomal disease caused by complete or partial trisomy of chromosome 13. The prevalence is about 1.68/10 000, of which 13-trisomy syndrome caused by partial trisomy 13q accounts for 1% . The maternal partial trisomy 13q and partial monosomy 21q are even less. We reported a pregnant woman undergoing further prenatal diagnosis and genetic analysis in the Second Hospital Affiliated to Army Medical University, due to the abnormal fetal development indicated by ultrasound at 23+1 weeks of gestation. Ultrasound showed the subvalvular aortic ventricular septal defect, double superior vena cava and abnormal ossification of vertebral body. The karyotype of amniotic fluid was 46,X?,+der(13)t(13;21)(q32;q21)dmat,-21. Copy number variation sequencing (CNV-seq) showed seq [hg19]dup (13) (q11q32.1)chr13:g.19440000_ 97680000dup and seq[hg19]del(21)(q11.2q21.1)chr21:g.15060000_22020000 del. The maternal karyotype was 46, XX,t(13;21)(q32;q21). Fetal chromosomal abnormalities were caused by the mother′s chromosomal balance translocation, which was the main reason of fetal heart development abnormalities. The comprehensive application of chromosome karyotype analysis and CNV-seq can identify the origin and nature of chromosome abnormalities, and provide a basis for genetic counseling and reproductive guidance. [ABSTRACT FROM AUTHOR]

Fetal intracranial hemorrhage (FICH) is a rare clinical event of brain injury, mostly occurring in the middle and late stages of pregnancy. Because of the particularity of fetal brain structure, its pathogenesis may be related to the development of germinal layer, coagulation function and the autoregulation function of fetal intracranial vessels. FICH is often discovered by chance during routine pregnancy examinations, with atypical clinical manifestations and some patients progressing rapidly. There is no gold standard for FICH diagnosis, and the imaging manifestations are complex and varied. The diagnosis mainly relies on prenatal ultrasound and magnetic resonance imaging to assist, which needs to be distinguished from fetal intracranial tumors, Galen′s venous tumors, arachnoid cysts, and intracranial calcification. Depending on the location and extent of the hemorrhage, it can lead to varying degrees of neurological dysfunction and even death, with significant differences in prognosis. Summarize the research progress of FICH, aiming to deepen the understanding of the disease among clinical doctors, effectively improve clinical diagnosis and treatment capabilities, and reduce the birth rate of children with severe neurological sequelae while reducing the number of blindly induced abortions. [ABSTRACT FROM AUTHOR]

A family with a case of two times of fetal hydrocephalus pregnancies was reported. The genetic etiology was analyzed by single nucleotide polymorphism array (SNP array) and whole-exome sequencing (WES). No pathogenic and likely pathogenic copy number variants were found from SNP array. The fetal was found to harbor a likely pathogenic c.287A>G mutation in exon 2 of POMT2 gene from the father and a pathogenic c.1362G>A mutation in exon 13 of POMT2 gene from the mother. The fetal carried the compound heterozygous mutations of POMT2 gene and so was diagnosed with Walker -Warburg syndrome (WWS). For a family with recurrent fetal hydrocephalus while excluding pathogenic and likely pathogenic copy number variants of fetal chromosome, WES is available with a view to identify the genetic etiology and to provid genetic data for reproduction. [ABSTRACT FROM AUTHOR]

Objective To explore the clinical characteristics and pregnancy outcomes of singleton pregnant women with preeclampsia and with different prenatal body mass index（BMI）, and analyze the relative risk of prenatal BMI as a risk factor for adverse outcomes. Methods A retrospective analysis was conducted on the clinical data of 479 singleton pregnant women with preeclampsia that delivered in Nanfang Hospital from January 2016 to December 2021. They were divided into group A （BMI < 26 kg/m²）, group B （26 ≤ BMI < 28 kg/m²）, group C （28 ≤ BMI < 30 kg/m²）, group D （30 ≤ BMI < 32 kg/m²）, and group E （BMI≥32 kg/m²） according to prenatal BMI. The general situation, pregnancy complications and pregnancy outcomes in each group were compared. Results The proportion of adverse outcomes such as severe preeclampsia, placental abruption, fetal growth restriction, and NICU transfer ratio in group A was increased, and these patients terminated pregnancy earlier. In group E, the proportion of cesarean delivery, gestational diabetes and macrosomia was increased, and there was more blood loss during operation and 24 hours after delivery. Patients of Group C had the lowest proportion of induced abortion or stillbirth. Compared with group C, BMI ≥ 32 kg/m² was a risk factor for gestational diabetes; BMI < 26 kg/m² was a risk factor for placental abruption and fetal growth restriction, while BMI < 26 kg/m² or BMI ≥30 kg/m² was the risk factor for the neonatals′ NICU admission. Conclusion There is correlation between prenatal BMI and adverse pregnancy outcomes in pregnant women with preeclampsia, and the appropriate range of BMI is 26 ~ 30 kg/m2. [ABSTRACT FROM AUTHOR]

The genetic etiology was comprehensively tested by noninvasive prenatal testing (NIPT), copy number variation sequencing (CNV-seq) and chromosome karyotype analysis in a fetus case with the critical risk of Down′s screening (1/476) in the second trimester of pregnancy. In this fetus, ultrasound found the choroid plexus cyst of left side, and NIPT indicated the high risk of 8.49 Mb deletion of 5p15.2-p15.33. The deletion of p.15.2-p.15.33 of chromosome 5 was indicated by CNV-seq, which was involved in the key regions related to Cridu-Chat syndrome. Chromosome karyotype analysis showed that the fetal karyotype was 46,XX,der(5)t(5;21) (p15.2;q11.1),-21,+mar dn [85], and that the parental karyotypes were normal, which suggested that the abnormity of fetal karyotype was a new mutation. In this study, a fetus with complex karyotype of Cri-du-Chat syndrome was diagnosed by the multiple prenatal methods. This case enriches the types of chromosome variation in Cri-du-Chat syndrome and demonstrates the importance of multi-method screening and diagnosis for the prevention of birth defects. [ABSTRACT FROM AUTHOR]

Objective: The clinical manifestation and genetic characteristics of Chinese patients with Aicardi -Goutières syndrome (AGS) diagnosed by gene sequencing were summarized. Methods: Clinical data including the gene sequencing results of AGS patients meeting the inclusion criteria were collected and analyzed. Results: 21 Chinese AGS cases were included in this study. The clinical manifestations were intellectual disability (90.0%), movement disorders (89.5%), dystonia (73.7%) and microcephaly (70.6%). Cranial imaging showed bilateral symmetrical calcification of basal segment, progressive brain atrophy (95.2%), and skin manifestations with frostbitelike rash (84.2%). Gene mutation analysis of 21 cases showed 8 cases with mutations in TREX1, 5 cases with RNASEH2C mutations, 4 cases with IFIH1, 2 cases with ADAR mutations, 1 case with RNASEH2A and 1 case with RNASEH2B mutations. The mutations of SAMHD1 gene were not involved. 84.2% cases were pedigree inherited, those parents who carry genetic mutations have no symptoms, and 15.8% cases were new variants. Conclusions: It is important to strengthen prenatal attention to those fetuses with abnormal soft indicators such as fetal growth restriction, microcephaly and lateral ventricle widening, and to strengthen prenatal management, timely multidisciplinary discussion and prenatal diagnosis, so as to reduce the birth of children with AGS. [ABSTRACT FROM AUTHOR]

Objective To analyze the changing trend of perinatal birth defects in Urumqi from 2016 to 2021. Methods The perinatal birth defect surveillance data of Urumqi birth defect monitoring hospital from 2016 to 2021 were collected and analyzed. Results The average annual incidence of perinatal birth defects in Urumqi from 2016 to 2021 was 102.71/10 000, which increased from 63.23/10 000 in 2016 to 155.72/10 000 in 2021 (『=183.497, P<0.001). The incidence of birth defects in urban areas was 116.29/10 000, which was higher than that in rural areas 63.72/10 000 (j=l 17.731, P<0.001). The incidence of birth defects in boys was 112.43/10 000, which was higher than that in girls (9032/10 000) (『=27.397, P<0.001)» There was significant difference in the incidence of perinatal birth defects among different age groups (『=159.739, P<0»001). The incidence of perinatal birth defects was the highest in 3 35-year-old group. The top 10 birth defect diseases accounted for 72.70% of all birth defects, the incidence of congenital heart disease increased from 8.74/10 000 in 2016 to 49.72/10 000 in 2021, and congenital heart disease ranked as the first birth defect from 2019 to 2021. The incidence of neural tube defects decreased from 3.12/10 000 in 2016 to 116/10 000 in 2021, with a decrease of 62.82% and ranking the 16th in 2021. Conclusion The incidence of perinatal birth defects in the whole city shows an upward trend from 2016 to 2021, which is related to the improvement of the technical ability of prenatal screening and diagnosis and the monitoring level of birth defects in Urumqi as well as the increase in the number of cases of birth defects in Urumqi in recent years, especially the increase in congenital heart disease and other cases. Remarkable achievements have been made in the prevention and control of birth defects in Urumqi. [ABSTRACT FROM AUTHOR]

A pregnant woman with left renal cyst and excessive amniotic fluid diagnosed by prenatal ultrasound was reported. After consultation, genetic testing of the fetus was requested to clarify the clinical diagnosis. Subsequently, chromosomal microarray analysis (CMA) and whole exome sequencing (WES) were used to analyze the DNA of fetal amniotic fluid cells. CMA results showed that there was a chimeric uniparental disomy (UPD) with a fragment size of about 18.6 Mb in the 11p15.5p15.1 region of the fetal chromosome. Simultaneously, no clear pathogenic gene mutations were found within the WES detection range. To clarify the parental origin of fetal chimeric UPD, the methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) for Beckwith-Wiedemann syndrome (BWS) was further used to detect abnormal methylation in the fetal imprinted region. The MS-MLPA results demonstrated that the methylation level in the imprinting center region 1 (ICR1) region of the fetus increased, while the methylation level in the ICR2 region decreased. Therefore, it can be determined that the fetal 11p15.5p15.1 region is a paternal chimeric UPD, thereby confirming that the fetus is BWS. Prenatal ultrasound of BWS is often a non-specific manifestation, which easily leads to missed diagnosis and misdiagnosis. Therefore, it is extremely important to carry out correct and targeted molecular diagnostic techniques to avoid the birth of defective children. [ABSTRACT FROM AUTHOR]

Congenital structural malformations have become serious public health and social problems. With continuous improvements of prenatal diagnosis, most fetal structural malformations may be detected during pregnancy. Early identification, timely surgical interventions and dynamic follow-up evaluations are important for an effective management of fetal structural malformations. Multidisciplinary collaborations, whole-chain services and integrated perinatal models have become a major trend. Different disciplines and specialties at home and abroad have proposed specific approaches. This review summarized current status, existing challenges and future trends of integrated perinatal managements of congenital structural malformations in China. [ABSTRACT FROM AUTHOR]

Objective To explore the characteristics of prenatal diagnosis and neonatal surgery in children with severe congenital lung developmental malformations. Methods There were 10 boys and 2 girls. And they were term ( n = 9) and premature ( n = 3) with a minimal gestational age of 32+5 weeks, a mean birth weight of 3135. 42 gram and a minimal birth weight of 2200 gram. Prenatal ultrasound examination, pregnancy interventios, postnatal clinical characteristics, surgical approaches and pathological results were recorded. Results All of them obtained a prenatal diagnosis with prenatal consultations. The maximal CVR of dynamic monitoring of prenatal ultrasound was 0. 68 -5, the mean congenital pulmonary airway malformation-volume (CVR) of the last ultrasound was 1. 48, 8 cases of thoracic/ abdominal effusion of different degrees and 3 cases of excessive amniotic fluid. Delivery was transferred by transport team through a green channel. There were varying degrees of dyspnea after delivery and 9 cases required respiratory support. The preoperative diagnosis was congenital pulmonary airway malformation (CP AM, n = 6), broncho-pulmonary sequestration ( BPS, n = 4) and congenital lobar emphysema (CLE, n = 2). There were neonatal respiratory distress syndrome ( n = 1 ), persistent pulmonary hypertension ( n = 2) and unilateral tension pneumothorax ( n = 2). Thoracoscopic mini-invasive surgery ( n = 6) and thoracotomy ( n = 6) were performed. One case of postoperative pneumothorax was cured by conservative measures. Another case of pectus excavatum was surgically corrected at an age of 3 years while the remainders recovered well. Conclusion High antenatal CVR for congenital lung developmental malformation and early dyspnea after delivery hint at a high possibility of surgery during neonatal period. Closely monitoring vital signs and respiratory status and choosing appropriate surgical timing may yield a decent prognosis. [ABSTRACT FROM AUTHOR]

Objective To explore the diagnostic accuracy of prenatal imaging (prenatal ultrasound & fetal magnetic resonance imaging) for fetal hypospadias. Methods Retrospective review was conducted for 31 preg- nant women with prenatally diagnosed hypospadias through multidisciplinary consultations at Zhejiang Prenatal Di- agnosis Center from March 2012 to March 2021, including age, gestational week, ultrasound and fetal MRI images. Results Thirty-one pregnant women were diagnosed with fetal hypospadias by prenatal ultrasound with an average age of (29.8 ±4.4) years and an average gestational week of (30.1 ±3.2) weeks, including 4 cases in the second trimester and 27 cases in the third trimester. Among them,22 cases of hypospadias were confirmed postnatally with a diagnostic accuracy of 71.0%. The major ultrasonographic features included 'tulip sign' of external genitalia (n = 19,61.3%), short external genitalia (n=4,12.9%) and ambiguous external genitalia (n=8,25.8%). The diagnos- tic accuracy of tulip sign' for fetal hypospadias was 84.2% (16/19) with a sensitivity of 72.7% and a specificity of 66.7%. Fetal MRI was performed in 15 cases. Major MRI features included short external genitalia (n = 10), 'tulip sign' of external genitalia (n=6), bifid scrotum (n=4), blunt penile tip (n=3), penile curvature (n=2), penos- crotal transposition (n=1) and gender identification (female, n = 1). The accuracy of fetal MRI in prenatal diagno- sis of hypospadias was 85.7% (12/14). Result of amniocentesis hinted at 46,XY and androgen insensitivity syn- drome. It was confirmed as severe hypospadias after induced labor. Conclusion Ultrasonography is the most com- mon diagnostic procedure for fetal hypospadias. And 'tulip sign' is commonly present with a high accuracy. Fetal MRI may boost the accuracy of prenatal diagnosis when prenatal hypospadias is suspected by ultrasonography. [ABSTRACT FROM AUTHOR]

Objective To assess the clinical significance of 16p13.11 microduplications encompassing NDE1 gene and study the genotype-phenotype correlation. Methods Sixty-one patients and 6, 144 controls who had undergone chromosome microarray analysis（CMA）for neurocognitive impairment or other reasons were analyzed and then divided into three groups: a group of patients with neurocognitive impairment, a prenatal group with abnormal nervous systems, and a prenatal group with normal nervous systems. The fetuses carrying 16p13.11 microduplications were followed up, and the detection rates for the three groups were statistically analyzed. Results 16p13.11 microduplications were not detectable in the group of patients with neurocognitive impairment and the prenatal group with abnormal nervous systems. However, 16p13.11 microduplications encompassing NDE1 gene were detectable in 13 fetuses in the prenatal group with normal nervous systems. Of these, one pregnancy was terminated because of fetal heart defect, the others chose to continue their pregnancy, and no other structural abnormalities were observed in the fetuses. A follow-up on postnatal health of the newborns revealed no apparent abnormalities. There was no significant difference in the detection rate of 16p13.11 microduplication among the three groups （P > 0.05）. Conclusions Combined with the characteristics of low penetrance, 16p13.11 microduplications encompassing the entire NDE1 gene may be benign variants;however, more large-scale studies are needed to evaluate the associated clinical phenotypes. Follow-up to adulthood is recommended for prenatal cases with 16p13.11 microduplication. [ABSTRACT FROM AUTHOR]

Cystic meconium peritonitis (CMP), type Ⅱ complex meconium peritonitis, is a pseudocyst wrapping the leakage and partial intestinal loop with the fibrous tissue caused by meconium stimulation due to long-term unsealed fetal intestinal perforation. Prenatal ultrasound is the main method of diagnosing CMP, and CMP is characterized by the irregular shape of pseudocyst wall and uneven internal echo inside in the abdominal cavity, with calcification strong echo within or on the pseudocyst wall. The intestinal tract may be enveloped. Since magnetic resonance imaging (MRI) can more directly show the location and extent of the diseased intestinal segment, it helps to distinguish the anatomical location between abdominal cyst and intestinal tract. With certain advantages, MRI can be used for the diagnosis of complex CMP and the differential diagnosis of other cystic lesions in the abdominal cavity. Intrauterine genetics and viral infection -related prenatal diagnosis are recommended for the pregnant women with the CMP and high-risk factors. The isolated CMP requires the dynamic monitoring, including maternal and fetal general conditions, fetal growth and development, as well as changes in pseudocyst. Fetal abdominal paracentesis and cyst fluid aspiration treatment can relieve symptoms and prolong gestational age if necessary. The delivery pattern should be determined, based on the obstetric indications of the mother and fetus, combined with the wishes of the pregnant woman′s family and multidisciplinary collaborative treatment conditions. Newborn with CMP should be treated with surgery as soon as possible, paying attention to postoperative complications and long-term intestinal function recovery. Patients who need parenteral nutrition should be followed up for long-term prognosis, and intestinal transplantation may be considered if necessary. [ABSTRACT FROM AUTHOR]

Objective To provide further data for clinical treatment of rare autosomal trisomy (RATs), through the analysis of the results of RATs screened by non-invasive prenatal examination (NIPT). Method A total of 85, 525 pregnant women who received NIPT in Maternity and Child Health Hospital Affiliated to Anhui Medical University from January 1, 2018 to June 1, 2022 were selected. Invasive diagnosis was performed for women with high risk results and pregnancy outcome was followed. Result Among the 85, 525 samples, 182 cases of high risk of RATs were detected. A total of 136 cases chose for further diagnosis, and 7 cases were confirmed, including 2 cases of T2, 1 case of T7, 1 case of T9, 1 case of T15, and 2 cases of T16. Positive predictive value (PPV) were 50%, 3.13%, 12.5%, 33.3%, and 12.5%, respectively, and the PPV of other chromosomes was 0. The total PPV was 5.15%. Detailed follow-up was conducted in 121 high-risk pregnant women, and 116 (95.87%) had a live birth, the incidence of fetal growth restriction (FGR) and preterm birth (PTB) were 25.62%, 20.66% respectively. Conclusion RATs screened by NIPT has a lower PPV, but the high risk of RATs has important clinical significance, suggesting that pregnant women are at increased risk of FGR and PTB and need enhanced ultrasound follow-up. [ABSTRACT FROM AUTHOR]

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Objective To analyze the clinical and molecular genetic features in one pedigree with nail-patella syndrome (NPS), and provide evidence for genetic counseling and reproductive guidance for this family. Methods Whole-exon sequencing (WES) was performed to detect the gene variant of the proband and the whole family. Candidate variants were verified by Sanger sequencing and bioinformatic analysis. Using the key words of "nail-patella syndrome"and "prenatal diagnosis/antenatal diagnosis" as the searching words in both Chinese and English, relevant literatures were searched from Pub Med, SinoMed, CNKI, W anfang Data and Chongqing VIP databases up to December, 2022. Clinical data of NPS cases were collected and analyzed. Results The proband and aborted fetus carried a heterozygous variant c.736C>T (p.Arg246*) of the LMXlB. The same heterozygous variant was found in father rather than in mother. This variant has been proven to be pathogenic. Bioinformatic analysis predicted that the 246th amino acid was highly conserved among different species and p.Arg246* variant altered the structure and function of LMXlB protein. According to literature review, six cases of NPS confirmed by prenatal diagnosis were searched. All cases were diagnosed by ultrasound and/or molecular genetic analysis. Conclusion The heterozygous variant c.736C>T (p.Arg246*) of LMXlB gene is the pathogenic mutation in this NPS pedigree. [ABSTRACT FROM AUTHOR]

Objective To identify pathogenic gene variants of glutaric aciduria typeⅠ (GAⅠ) and provide reference for prenatal diagnosis of this disease. Methods Genomic DNA was extracted from the family members of a suspected case of GAⅠ. Whole exome sequencing was performed on the proband, and DNA Sanger sequencing was performed on the parents to verify the variants and analyze their pathogenicity. Amniotic fluid fetal cells were extracted by amniocentesis at 18 weeks of gestation to detect GCDH gene. Literature review was conducted from PubMed, CNKI, Wanfang Data and Chongqing VIP databases using the keywords of “glutaric aciduria typeⅠ”, “GCDH” and prenatal diagnosis in both Chinese and English. Results Two variants of GCDH gene were detected in the proband： c.206_207delAC(p.Thr70Leufs*117) and c.892G>A(p.Ala298Thr), from the father and mother, respectively. The paternal variant was a novel variant, and the maternal variant was a known variant. And two variants were both pathogenic. GCDH gene variant analysis of amniotic fluid fetal cells showed compound heterozygous c.206_207delAC and c.892G>A variants. The couple decided to terminate the pregnancy thereafter. A total of 9 families with prenatal diagnosis of GAⅠ were retrieved by GCDH gene sequencing analysis. Among them, 5 fetuses from 4 families had prenatal diagnosis of GAⅠ. Four families decided to terminate the pregnancy, and only 1 family insisted on continuing pregnancy until full-term delivery. Conclusions The novel variant of GCDH gene (c.206_207delAC) is detected in this family of GAⅠ. The pathogenic variant sites of GCDH gene are identified in the proband of this GAⅠ family.

Background Fetal arteriovenous malformations may occur in all parts of the body and are mainly diagnosed by color Doppler ultrasound. However, there are few reports at home and abroad on the types of arteriovenous shunts explored by prenatal ultrasound. Objective To investigate the diagnosis value of prenatal ultrasonography in fetal arteriovenous malformation. Methods Pregnant women with fetal arteriovenous malformations who underwent prenatal ultrasound screening in the Department of Ultrasound, Changsha Hospital for Maternal and Child Health Care from August 2013 to August 2021 were recruited. Color Doppler ultrasonography was used for fetal systematical ultrasound screening. The location, size, shape, and internal echoes of fetal arteriovenous malformation lesions were detected and described. The ultrasonographic features and types of arteriovenous malformations in different parts of patients were analyzed, and the results of follow-up were tracked. Results Prenatal ultrasound screening in this study identified sixteen cases with fetal arteriovenous malformations, of which six lesions were located in the fetal sacrococcygeal region (diagnosed as sacrococcygeal teratoma) , four were located in the fetal intracranial region (including three intracranial cranberg hemangiomas with Galen's vein tumors, one Galen's vein tumor) , three were located in the fetal limbs, soft tissues (including one Parkes Weber syndrome, two soft tissue hemangiomas) , two were located in fetal liver (diagnosed as hepatic arteriovenous fistula) and one was located in fetal lung (diagnosed as isolated lung with pulmonary arteriovenous fistula) . Arteriovenous malformation typing: 10 patients had simple type Ⅱ (10/16) , 3 patients had both type Ⅱ and type Ⅲa (3/16) , 1 patient had type Ⅰ (1/16) , 1 patient had type Ⅳ (1/16) , 1 patient had simple type Ⅲa (1/16) . Follow up showed that 10 induced labor, 3 were lost to follow-up, 2 were born at term and treated surgically, and 1 was stillborn. Conclusion The prognosis of fetal arteriovenous malformation is closely related to the location of lesion and blood flow distribution within the lesion. Prenatal ultrasound can detect a fetus with or without a focus of arteriovenous malformation, which is valuable for diagnosis and prognosis, and can help to detect the potential threat caused by arteriovenous malformation to the fetus.

Background Noninvasive prenatal screening is more effective in screening for fetal aneuploidy than does traditional serological screening. We attempted to analyze the real-world data about the positive predictive value (PPV) for chromosome aneuploidy, and chromosome copy number variation (CNV) obtained by noninvasive prenatal testing (NIPT) , and to explore the pregnancy outcome for fetuses with sex chromosome aneuploidies and chromosome microdeletion or microduplication determined by pregnant women. Objective To assess the clinical value of karyotype analysis and chromosomal microarray analysis (CMA) of the testing results of NIPT. Methods Five-hundred and twenty-eight pregnant women who were found with a fetus at high risk of chromosome aneuploidy, and CNV by NIPT were selected from Department of Reproductive and Genetic Medicine, Hebei General Hospital, from January 1, 2014 to December 31, 2018. Amniocentesis or umbilical vein puncture was performed in them to obtain fetal cells for a definite prenatal diagnosis using karyotype analysis and CMA. All delivered cases were followed up by telephone within one year after childbirth to understand the pregnancy outcome. Results Prenatal diagnosis analysis revealed that 447 fetuses were at high risk of chromosome aneuploidy. And PPVs for the risk of trisomy 21, trisomy 18, trisomy 13, sex chromosome aneuploidies, and other chromosome aneuploidy were 82.86% (174/210) , 51.52% (34/66) , 12.50% (4/32) , 50.82% (62/122) , and 5.88% (1/17) , respectively. Another 81 fetuses were at high risk of CNVs. CMA suggested that copy number variations were found in 28 cases (PPV 34.57%) , and the proportion with a clear pathogenic significance reached 24.69% (20/81) . Among the subjects under 35 years and 35 years or older, the proportions of abnormal results confirmed by prenatal diagnosis were 48.51% (147/303) and 70.22% (158/225) , respectively, showing statistically significant difference (χ2=24.938, P

Objective: To improve the understanding of prenatal diagnosis of fetuses with 22q11 microdeletion syndrome (22q11DS). Methods：A retrospective analysis was conducted on the cases of amniotic fluid/umbilical cord blood chromosome karyotype and SNP -array detection in the Prenatal Diagnosis Center of Quanzhou Women′s and Children′s Hospital from January 2017 to July, 2021. The ultrasonic clinical features, genetic etiology and follow -up results of fetuses with 22q11DS were analyzed. Results：A total of 11 cases of 22q11DS were detected by SNP-array analysis, with a detection rate being 0.37%(11/2 958). Five cases performed the parental SNP-array verification, among them, 1 case inherited from the normal father and the other 4 cases were de novo. There were 9 cases with different ultrasound abnormalities including 4 cases of abnormal cardiovascular system, 3 cases of NT thickening, 1 case of bipedal varus and 1 case of duodenal atresia. The other 2 cases showed no obvious abnormality on prenatal ultrasound. Six cases were induced labor; 1 case was lost to follow -up. Four cases chose to continue pregnancy, of which 2 cases were followed up without obvious abnormality, and 2 cases were missed. Conclusions：Fetal with 22q11DS mainly manifest ultrasound structural abnormalities. Further SNP array detection of ultrasound abnormal fetus can improve the detection rate of chromosome microdeletion. [ABSTRACT FROM AUTHOR]

Objective To study the prenatal ultrasonographic findings of absent ductus venosus (ADV) and its relationship with pregnancy outcomes. Methods Sonograms and clinical data of 21 ADV cases who visited ultrasound diagnosis department of Obstetrics and Gynecology, Fudan University from Jan 2017 to Feb 2020 were retrospectively reviewed. The cases of ADV were analyzed according to the new classification of Achiron, et al’s： Type Ⅰ was umbilical-systemic shunt (USS)； Type Ⅱ was ductus venosus-systemic shunt (DVSS)； Type Ⅲ was divided into Type Ⅲa,intrahepatic portal-systemic shunt (IHPSS) and Type Ⅲ b, extrahepatic portal systemic shunt (EHPSS). Fetomaternal clinical characteristics and outcomes (postnatal follow-ups to 42 days) were investigated by means of medical files, imaging documentation and telephone interviews (live birth, postpartum ultrasound, liver function, or routine physical examination results) with the mothers. Results A total of 21 cases were identified in 3 types：10(47.6%) with Type Ⅰ,7(33.3%) with Type Ⅱand 4(19.0%) with Type Ⅲa. There were 6 cases (60%) combined with cardiomegaly in type Ⅰ,2 cases (50%) combined with cardiomegaly in Type Ⅲ a, and there was no case combined with cardiomegaly in Type Ⅱ (P=0.012). A total of 16 cases (76.2%) were combined with intracardiac and extracardiac malformations, i. e.,9 cases (90%),4 cases (57.1%) and 3 cases (75%) in the three types, respectively (P=0.288). There were 3 cases with fetal growth restriction, accounting for 10%,28.6% and 0 in the three types, respectively (P=0.309). Pregnancy outcomes：5 cases were lost to follow-up；9 cases with severe malformations were terminated of pregnancy； the remaining 7 cases were born lively,1 case (10%),4 cases (57.1%) and 2 cases (50%) in the three types, respectively (P=0.077). Conclusion In this study, there were significant ultrasonographic findings in three types of ADV. The incidences of cardiomegaly and intracardiac and extracardiac malformations were higher in USS type cases with poor outcomes. Postnatal outcome was associated with the types of ADV,the presence and severity of cardiomegaly, and associated malformations. [ABSTRACT FROM AUTHOR]

Objective To compare the width of anterior commissures of fetuses with and without agenesis of corpus callosum (ACC). Methods MRI performed at the gestational age of 24-30 weeks on 84 fetuses with (42) and without (42) postnatal MR imaging diagnosis of ACC from August 2018 to March 2022 was retrospectively analyze. The width of anterior commissure was measured on the axial thin-slice half-Fourier acquisition single-shot turbo spin-echo (HASTE) and balanced steady-state gradient-echo (true FISP)-T2- weighted images. Independent sample t test was used for statistical comparison between the 2 groups. Results The anterior commissures were displayed clearly in 42 fetuses with complete (36) or partial (6) ACC. Of the 42 fetuses with ACC, 15 had other intracranial malformations including hemispheric cleft cyst (3), Dandy-Walker malformation (3), hydrocephalus (2), ependymal cyst (2), agenesis of septum pellucidum (1), forebrain dehiscence (1), Blake爷s pouch cyst (1), cerebellar hemisphere dysplasia (1), and intraventricular hemorrhage (1). The anterior commissure was significantly wider (P<0.001) in fetuses with ACC [(3.49依0.82) mm] than that without ACC [(2.20依0.35) mm]. There was no significant difference (P>0.05) in the anterior commissure width of ACC group without [(3.45依0.78) mm] and with other malformations [(3.56依0.91) mm]. Conclusion The anterior commissure of fetus with ACC is wider than that of normal fetus. There is no relationship between the anterior commissure width and other intracranial malformations. [ABSTRACT FROM AUTHOR]

Objective: To analyze the prenatal ultrasonographic and genetic characteristics in fetuses with chromosome 22q11.2 microduplications. Methods：A total of 13 cases with 22q11.2 microduplications from Prenatal Diagnosis Center of Quanzhou Women′s and Children′s Hospital from January 1, 2018 to June 30, 2021 were included. Prenatal ultrasonographic characteristics, genetic causes and follow -up results were collected. Single nucleotide polymorphism array (SNP-array) and karyotype analysis were performed using amniotic fluid and umbilical cord blood. Results：The results of prenatal ultrasound demonstrated that case 1 had congenital diaphragmatic hernia and nuchal translucency (NT) thickening and choroid plexus cyst, and that case 2 and case 8 had the aberrant right subclavian artery. The results of SNP-array showed the microduplication fragments in 22q11.2 region range from 801.1 kb to 3.8 Mb in the enrolled 13 cases. Parental SNP-array verification indicated that two cases of microduplications were inherited from normal parents and that two of microduplications were de novo. At last, ten families chose to continue their pregnancies. Among them, 8 fetuses were followed up after birth without obvious abnormality, and 2 fetuses lost follow-up after birth. Conclusions：Interpretation of the clinical significance of prenatal 22q11.2 microduplications should be careful; the combination of prenatal ultrasonography and parental SNP-array verification will be helpful for the selection of pregnancy outcomes. [ABSTRACT FROM AUTHOR]

Congenital vascular ring (CVR) is a rare congenital vascular malformation. During aortic arch development, congenital variations in vessels may occur, some of which form vascular rings that cause compression around the airway and/or esophagus, causing a range of respiratory and gastrointestinal symptoms. In addition, CVR may be associated with a variety of chromosomal and genetic abnormalities and other intracardiac and extracardiac structural malformations. The treatment and prognosis varies from type to type according to differences in anatomic structure and degree of compression. With the standardization and popularization of prenatal screening of fetal congenital diseases, the liversification of postnatal assessment methods and application of new operation methods, the prenatal detection rate of CVR has been increased, and the postnatal evaluation has been more accurate. The postoperative prognosis of some diseases has been improved. However, the clinical cognition of CVR still remains to be improved. The lack of professional consultation on treatment and prognosis may cause excessive anxiety of gravida and families, and even unnecessary induction. The surgical indication, treatment and prognosis of each type of CVR still remain to reach a consensus. This review summarizes the anatomical characteristics, diagnostic methods, clinical manifestations, and treatment and prognosis of CVR types in order to improve and update the understanding of this disease, guide gravidae to make more reasonable decisions during pregnancy and provide reference for diagnosis, treatment and follow-up plan. [ABSTRACT FROM AUTHOR]

Objective To identify pathogenic gene variants of glutaric aciduria type I (GAI) and provide reference for prenatal diagnosis of this disease. Methods Genomic DNA was extracted from the family members of a suspected case of GAI. Whole exome sequencing was performed on the proband, and DNA Sanger sequencing was performed on the parents to verify the variants and analyze their pathogenicity. Amniotic fluid fetal cells were extracted by amniocentesis at 18 weeks of gestation to detect GCDH gene. Literature review was conducted from PubMed, CNKI, Wanfang Data and Chongqing VIP databases using the keywords of "glutaric aciduria type I ", "GCDH" and prenatal diagnosis in both Chinese and English. Results Two variants of GCDH gene were detected in the proband: c.206_207delAC (p.Thr70Leufs*117) and c.892G>A (p.Ala298Thr), from the father and mother, respectively. The paternal variant was a novel variant, and the maternal variant was a known variant. And two variants were both pathogenic. GCDH gene variant analysis of amniotic fluid fetal cells showed compound heterozygous c.206_207delAC and c.892G>A variants. The couple decided to terminate the pregnancy thereafter. A total of 9 families with prenatal diagnosis of GAI were retrieved by GCDH gene sequencing analysis. Among them, 5 fetuses from 4 families had prenatal diagnosis of GAI. Four families decided to terminate the pregnancy, and only 1 family insisted on continuing pregnancy until full-term delivery. Conclusions The novel variant of GCDH gene (c.206_207delAC) is detected in this family of GAI. The pathogenic variant sites of GCDH gene are identified in the proband of this GAI family. [ABSTRACT FROM AUTHOR]

Congenital heart disease (CHD) is diagnosed as the birth defect that causes heart or blood vessel structure abnormality due to genetic or environmental factors, leading to cardiac dysfunction. It is the most common disease among birth defects in China recently, and its incidence is increasing year by year, seriously affecting the health of newborns, especially for some complicated CHD fetuses. The birth survival rate is very low, and surgical interventions are necessary, which bring heavy psychological and economic burden to the families of fetuses, and seriously affect the aristogenesis and aristogenesis in China. The etiology of CHD is complex. Nowadays, it is believed that the occurrence of CHD is closely related to genetic and environmental factors. Some studies showed that genetic factors were the main causes of CHD, and approximately one of ten fetuses with CHD were related to genetic inheritance. Therefore, prenatal diagnosis to investigate the genetic causes of fetal CHD is crucial for evaluating fetal prognosis. In recent years, more and more studies at home and abroad have focused on the genetic etiology of congenital heart disease. Relevant review articles published in China only focused on the progress of certain genetic testing techniques for the detection of chromosomal abnormalities of CHD, and there is still a lack of comprehensive summary of various prenatal genetic testing techniques on the detection of genetic causes of CHD. This article reviews and prospects various genetic testing techniques for CHD. [ABSTRACT FROM AUTHOR]

A case of 17p13.3p13.2 microdeletion fetus was reported, combined with literature review. This is a fetus with the anencephaly and bilateral ventricle widening, ventricular septal defect and fetal growth restriction detected by imaging examination. Traditional chromosomal karyotype and single nucleotide polymorphism array (SNP-array) analysis were employed for the genetic etiology analysis. The SNP-array detection demonstrated a 4.3 Mb deletion in 17p13.3p13.2 region of chromosome 17 in the fetus, which covering the Miller-Dieker syndrome disease region. Parental SNP-array verificated that this microdeletion was a de novo variant. It is of great significance combining use of imaging and SNP -array technology to screen and diagnose fetal birth defects. [ABSTRACT FROM AUTHOR]

Objective: To evaluate the clinical value of chromosome microarray analysis (CMA) in the fetuses with talipes equinovarus (TE). Methods: We retrospectively collected the clinic data of 157 cases of TE fetuses from January 2016 to July 2020 who were diagnosed by ultrasound and tested by CMA. The fetuses were then divided into two groups as the isolated TE group (107 cases) and the complex TE group (50 cases). The positive rate of chromosomal variations in each group was analyzed. The positive rates of clinically significant copy number variation (CNV) of the two groups were compared with the risk ratio of low-risk pregnancy cohorts, to analyze whether the risk was enriched in TE fetuses. Results: ①The total positive rate of clinically significant chromosomal variations of TE fetuses was 10.19% (16/157), the positive rate of chromosome aneuploidy was 5.73% (9/157), the positive rate of CNV was 6.37% (10/157), in which the positive rate of clinically significant CNV was 4.46% (7/157). There were no significant differences in the positive rate of clinically significant chromosomal variation, the positive rate of chromosome aneuploidy and the positive rate of clinically significant CNV between the two groups (P＞0.05). ② The total positive rate of clinically significant CNV in the TE fetuses and the positive rate of clinically significant CNV in the isolated TE group were significantly higher than those in the low- risk pregnancy cohort, respectively (P＜0.05). There was no significant difference in the positive rate of clinically significant CNV between the complex TE group and the low- risk pregnancy cohort (P＞0.05). Conclusions: The risk of clinically significant CNV in the TE fetuses is significantly higher than that in the low-risk pregnancy population. CMA can improve the detection rate of CNV in the fetuses with TE by about 6% (10/157), while CMA has important clinical value in detecting chromosomal microdeletion/microduplication in the TE fetus. [ABSTRACT FROM AUTHOR]

Objective: To summarize the application of chromosome karyotype analysis combined with copy number variation sequencing (CNV-seq) in the fetuses with increased nuchal translucency (NT) . Methods: Karyotype analysis and CNV-seq were performed in 189 singleton fetuses with NT≥2.5 mm and gestation weeks from 11 to 13 +6, and the detection rate of chromosomal abnormalities was analyzed. According to the pre -interventional diagnosis indications, they were divided into the simple NT thickening group (n=119) and the non-simple NT thickening group (n=70). According to the NT thickness, they were divided into the 2.5 mm≤NT＜3.5 mm group (n=123) and the NT≥3.5 mm group (n=66). Results: Karyotype analysis revealed 31 cases (16.40%) of chromosome abnormalities, including 24 cases (12.70%) of aneuploidy and 7 cases (3.70%) of structural abnormalities, and CNV-seq revealed 38 cases (20.11%) of pathogenic copy number variations (pCNVs), including 24 cases (12.70%) of aneuploidy and 14 cases (7.41%) of other pCNVs. Nine additional cases (5.70%) of pCNVs were detected by CNV-seq in fetuses with normal karyotype. The detection rates of pCNVs and chromosome aneuploidy in the nonsimple NT thickening group were higher than those in the simple NT thickening group, and the differences were statistically significant (P＜0.05). There was no significant difference in the detection rates of other pCNVs (P＞0.05). The detection rates of pCNVs and chromosome aneuploidy in the NT≥3.5 mm group were higher than those in the 2.5 mm≤NT＜3.5 mm group, the differences were statistically significant (P＜0.05). There was no significant difference in the other pCNVs detection rates (P＞0.05). Conclusions: Fetal chromosomal abnormalities were increased with NT thickening or other pre-interventional diagnostic indicators, but they were not significantly associated with other pCNVs. CNV -seq combined karyotype analysis can help to detect the different types of chromosomal abnormalities, to avoid the missed diagnosis of chromosomal structural abnormalities and chromosomal microdeletion/ microduplication. [ABSTRACT FROM AUTHOR]

Objective To explore the prenatal diagnosis and multidisciplinary treatment (MDT) of neonatal sacrococcygeal teratoma (SCT). Methods From April 2015 to January 2021, clinical data were retrospectively reviewed for 35 children of neonatal SCT. The MDT team consisted of neonatal surgeons, prenatal physicians, ultrasonic specialists, obstetricians, neonatologists and pathologists. According to the tumor diameter, 34 children were divided into giant teratoma group ( tumor diameter > 10 cm, 13 cases) and ordinary teratoma group (tumor diameter ~10 cm,21 cases). The differences in gender, gestational age, birth type, birth weight, length of hospital stay, postoperative complications and tumor properties were compared between the two groups. Results Thirty-three SCT cases were identified by MDT, and one case was detected after birth. All cases were timely operated. Postoperative pathology revealed mature teratoma (n = 29,85. 3%) and immature teratoma (n = 5, 14.7%). There were no significant differences in gestational age, mode of delivery, birth weight, wound healing and average length of hospital stay between the two groups ( P > 0. 05). Wound dehiscence and infection were two major postoperative complications. The post-discharge follow-up period was 6 to 36 months. There was no recurrence or obvious rectal dysfunction. Conclusion Prenatal diagnosis can timely and effectively detect SCT children. And MDT may improve the prognosis of neonatal SCT. [ABSTRACT FROM AUTHOR]

Objective: To explore the genetic etiology of a Chinese pedigree affected with Branchio-oculo-facial syndrome (BOFS) and summarize the prenatal phenotype of BOFS patients., Methods: A pedigree with BOFS which had presented at the Genetics and Prenatal Diagnosis Center of the First Affiliated Hospital of Zhengzhou University in December 2021 was selected as the study subject. Clinical data of the pedigree was collected. The fetus was subjected to routine prenatal ultrasound scan. Trio-whole exome sequencing (trio-WES) was carried out for the fetus and its parents, and candidate variant was verified by Sanger sequencing. Relevant literature was searched from the database to summarize the prenatal phenotype of BOFS patients., Results: Ultrasound exam suggested the fetus had cleft lip and palate. Its father had presented with high palatal arch, prematurely grayed hair, occult cleft lip, congenital preauricular fistula, red-green color blindness and unilateral renal agenesis. Its grandfather also had high palatal arch, prematurely gray hair, protruding ears, congenital preauricular fistula and hearing disorders. Trio-WES revealed that the fetus and its father had both harbored a heterozygous c.890-1G>A variant of the TFAP2A gene. The same variant was not found in its mother. Sanger sequencing confirmed that its grandfather had also harbored the same variant. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was rated as likely pathogenic (PVS1+PM2&#95;Supporting). Combined with 36 similar cases retrieved from the literature, the prenatal phenotypes of BOFS patients had included growth restriction (25/37), renal abnormalities (10/37), cleft lip and palate (5/37) and oligohydramnios (5/37)., Conclusion: The c.890-1G>A variant of the TFAP2A gene probably underlay the pathogenesis of BOFS in this pedigree. Discovery of the novel variant has enriched the mutational spectrum of the TFAP2A gene. The common prenatal phenotypes of BOFS have included growth restriction, renal abnormalities, cleft lip and palate and oligohydramnios. Delineation of the intrauterine phenotype of BOFS may facilitate its prenatal diagnosis, clinical diagnosis, treatment and genetic counseling.

Objective: To explore the clinical phenotype and genetic etiology for a Chinese pedigree affected with Autosomal dominant polycystic kidney disease (ADPKD)., Methods: A pedigree with ADPKD diagnosed at the Department of Gynaecology of the First Affiliated Hospital of Zhengzhou University in December 2020 was selected as the study subject. Clinical data of the pedigree was collected, and whole exome sequencing (WES) was carried out for the proband. Candidate variants were verified by Sanger sequencing of the proband and her relatives., Results: Fetal ultrasonography showed increased volume and parenchymal echogenicity in both kidneys. The fetus was found to harbor c.11098C>T (p.R3700C) and c.11039T>C (p.F3680S) compound heterozygous variants of the PKD1 gene, which were respectively inherited from its mother and father. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), both variants were predicted to be likely pathogenic (PM1+PM2&#95;supporting+PP3)., Conclusion: The c.11098C>T (p.R3700C) and c.11039T>C (p.F3680S) compound heterozygous variants of the PKD1 gene probably underlay the ADPKD in the fetus. Above finding has provided guidance for the genetic counseling and prenatal diagnosis for this pedigree.

Objective: To explore the genetic characteristics of a fetus with sex chromosome abnormality indicated by non-invasive prenatal testing (NIPT) at 25 + gestational weeks., Methods: A pregnant woman who was admitted to the Taizhou Hospital for abnormal NIPT result on January 6, 2023 was selected as the study subject. Relevant clinical data was collected. The fetus was subjected to chromosomal karyotyping analysis, copy number variation sequencing (CNV-seq), fluorescence in situ hybridization (FISH), and multiplex PCR assays., Results: NIPT had suggested monosomy of X chromosome. The fetus was found to have a chromosomal karyotype of 45,X[59]/46,X,del(Y)(q11.2)[17] at 30 + weeks of gestational age. CNV-seq suggested the presence a 7.98 Mb deletion at Yq11.222q12 and a mosaicism 16.92 Mb deletion. FISH suggested that the fetus harbored two SRY genes and a mosaicism sex chromosomal abnormality, and multiplex PCR revealed that its AZF b+c region was completely deleted. C-banded karyotyping showed darkly stained dense mitotic granules at both ends of the Y chromosome. The fetus was ultimately determined as a 45,X/46,X,idic(Y)(q11.2) mosaicism. Following elected abortion, testing of the fetal tissue confirmed the presence of 45,X/46,XY mosaicism, and CNV-seq result of the placental tissue was compatible with that of NIPT. CNV-seq analysis of the couple revealed no obvious abnormality., Conclusion: With combined NIPT, karyotyping, CNV-seq, FISH and multiplex PCR assays, the fetus was diagnosed as a 45,X/46,X,idic(Y)(q11.2) mosaicism with deletion of the AZF b+c region. Above finding has enabled prenatal diagnosis for the fetus.

Objective: To explore the clinical characteristics and genetic basis for a fetus with Joubert syndrome., Methods: A pregnant woman who had visited Suzhou Municipal Hospital on February 26, 2021 was selected as the study subject. The fetus and her parents were subjected to whole exome sequencing (WES), and candidate variants were verified by Sanger sequencing. cDNA analysis of her father and RNA sequencing of her sister were also carried out., Results: The fetus was found to harbor compound heterozygous variants of the TCTN1 gene, namely c.624G>A and c.96dupA (p.Glu33Argfs*49), which were inherited from her father and mother, respectively. Her sister also carried the paternal c.624G>A variant, and mRNA transcripts with the c.624G>A variant of the TCTN1 gene were not detected by cDNA analysis of her father and RNA sequencing of her sister. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the c.624G>A and c.96dupA variants were both classified as likely pathogenic (PVS1+PM2&#95;Supporting)., Conclusion: The compound heterozygous variants of the TCTN1 gene probably underlay the pathogenesis in this fetus. Above finding has also expanded the mutational spectrum of the TCTN1 gene.

Objective: To explore the clinical characteristics and variant of CREBBP gene in a fetus with Rubinstein-Taybi syndrome (RSTS)., Methods: A fetus with RSTS diagnosed at the Third Affiliated Hospital of Zhengzhou University in August 2022 was selected as the study subject. Clinical data, amniotic fluid sample of the fetus and peripheral blood samples of its parents were collected for whole exome sequencing (WES). Candidate variant was verified by Sanger sequencing., Results: Foot malformation, cerebellar vermis agenesis, brain agenesis, polysyndactyly of the big toes and other phenotypes were found by prenatal ultrasound. WES revealed that the fetus has harbored a heterozygous c.4684G>T (p.E1562*) variant in exon 28 of the CREBBP gene (NM&#95;004380.3), which was de novo in origin. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was predicted to be pathogenic (PVS1+PS2&#95;Moderate+PM2&#95;Supporting). After genetic counseling, the couple had opted to terminate the pregnancy and refused autopsy of the fetus., Conclusion: The c.4684G>T (p.E1562*) variant of the CREBBP gene probably underlay the RSTS in this fetus. The newly discovered variant has enriched the mutational spectrum of the CREBBP gene and illustrated that WES is an efficient tool for the prenatal diagnosis of RSTS.

Objective To evaluate the changes in the incidence of neural tube defects (NTDs) in Shaanxi province from 2003 to 2022,investigate the diagnosis time and outcomes of defective infants,and predict the incidence of NTDs in Shaanxi province from 2023 to 2025,thereby providing a basis for improving the birth defects surveillance system. Methods Data were collected from all the perinatal infants from 28 weeks of gestation to 7 days after birth in all the hospitals with obstetrical department in Shaanxi province during 2003-2022.The changes in the incidence of NTDs from 2003 to 2022 were analyzed based on the birth defects surveillance system. Results A total of 1 106 483 perinatal infants in Shaanxi province from 2003 to 2022 were surveyed,among which NTDs occurred in 848 perinatal infants,with an incidence of 7.66/10 000.The incidence was the highest (48.02/10 000) in 2005 and the lowest (0.57/10 000) in 2022.The NTDs in Shaanxi province were mainly spina bifida (55.90%),which was followed by anencephaly (25.71%) and encephalocele (18.40%).The incidences of the three declined with fluctuations ( P <0.001).The results of the Joinpoint analysis showed that the incidence of NTDs decreased slowly with the annual percentage change of -4.04 from 2003 to 2014 and declined rapidly with the annual percentage change of -28.05 from 2014 to 2022.From 2003 to 2022,the average proportion of prenatal diagnosis of NTDs in Shaanxi province was 72.88%.Dead fetus (61.91%) was the main birth outcome,followed by live birth (26.77%),stillbirth (8.73%),and death within seven days after birth (2.59%).The incidence of NTDs in Shaanxi province from 2023 to 2025 were predicted by the GM (1,1) model as 0.49/10 000,0.41/10 000,and 0.35/10 000,respectively. Conclusion The incidence of NTDs in Shaanxi province declined significantly during 2003-2022,especially in a rapid manner after 2014.Dead fetus was the primary outcome of perinatal infants with NTDs,followed by live birth.

Objective: To explore the clinical features and genetic basis for a fetus featuring Rhizomelic skeletal dysplasia., Methods: A fetus diagnosed at the Reproductive and Genetic Center of Suzhou Municipal Hospital in November 2020 was selected as the study subject. Whole exome sequencing (WES) was carried out for the fetus and its parents. Candidate variants were verified by Sanger sequencing. Peripheral blood smears of both parents were also examined., Results: The fetus was found to have a small chest and short limbs, which had suggested skeletal dysplasia. Genetic testing revealed that the fetus has harbored compound heterozygous variants of the LBR gene, including a paternally derived c.1687+1G>A and a maternally derived c.1757G>A (p.Arg586His). The blood smear of the father showed Pelger-Huet anomaly with hyposegmentation of neutrophil nuclei, while the neutrophils of the mother appeared to be normal. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP), the c.1757G>A (p.Arg586His) variant was classified as likely pathogenic (PM3&#95;Strong+PM2&#95;Supporting+PP3), and so was the c.1687+1G>A variant (PVS1-Moderate+PM3+PM2-Supporting+PP4)., Conclusion: The compound heterozygous variants of the LBR gene probably underlay the pathogenesis of skeletal dysplasia in this fetus.

Monochorionic monoamnionic (MCMA) monozygotic twin is a very rare type of twin pregnancy, which is extremely high-risk twin pregnancy. Because the two fetuses share the same amniotic cavity and there is no fetal membrane separation between the two fetuses, there is a greater possibility of intrauterine accidents due to umbilical cord entanglement and knot. For pregnant women with twin pregnancies should be clear as soon as possible its chorionic properties. Once diagnosed as MCMA twins, vigilance should be raised and termination of pregnancy in the guidelines recommend gestational weeks to improve maternal and infant outcomes. This paper retrospectively reports two cases of monochorionic monoamnionic twins pregnancy with true umbilical knot and successful delivery in Shanxi Maternal and Child Health Hospital, to improve obstetricians′ awareness of early diagnosis and differentiation of twin chorionic properties. Special attention should be paid to the abnormality of umbilical cord morphology and structure when diagnosed as monochorionic monoamnionic twins, prenatal management of monochorionic monoamnionic twins pregnancies should be strengthened. [ABSTRACT FROM AUTHOR]

Objective: Prenatal diagnosis and genetic counseling of a Lesch-Nyhan syndrome family were performed by the studies of point mutation in the HPRT1 gene. Methods: The older child born by the patient was the Lesch-Nyhan Syndrome (proband)，who was caused by the hemizygotic variation of HPRT1 gene (NM_000194) c.289_290delGT (p.V97Rfs *10). The second-born died, whose symptoms were similar to the older child, and HPRT1 gene test was not performed. Without prepregnancy genetic counseling before the third natural pregnancy, the method of polymerase chain reaction combined with Sanger sequencing was used to study the point mutation of HPRT1 gene in the family under the principle of informed consent, and genetic counseling was provided. Results: The hemizygotic variation c.289_290delGT(p.V97Rfs*10) of the HPRT1 gene (NM_000194) was detected in the proband. The heterozygous variation c.289_290delGT(p.V97Rfs*10) of the HPRT1 gene (NM_000194) was detected in the mother. The variation c.289_290delGT (p.V97Rfs*10) of the HPRT1 gene (NM_000194) was not detected in the fetus. The proband′s mother was advised to continue pregnancy, and finally gave birth to a healthy baby girl with normal physical examination at 1 year old. Conclusions: The mutation locus of HPRT1 gene of proband is inherited from the mother. Clinical attention should be paid to gene testing and prenatal diagnosis of other members of the proband′s lineage, and perfect genetic counseling should be given to avoid the birth of children with the Lesch-Nyhan syndrome and other rare genetic diseases. [ABSTRACT FROM AUTHOR]

Pregnancy with thalassemia is a single-genome inherited hemolytic disease occurring during pregnancy. Due to the imbalance in the composition of hemoglobin in the blood, the blood system of pregnant patients has changed, which may affect the maternal heart function, increase the risk of thrombosis, damage the immune system, and disrupt endocrine system. Previous studies have focused on the epidemiology and pathogenesis of pregnancy -associated thalassemia, but lacked systematic elaboration on pregnancy management, genetic counseling and prenatal diagnosis of complications. This study started from the types of lesions and pathogenesis, and deeply analyzes the unique complications of thalassemia during pregnancy and the corresponding treatment methods, in order to achieve better pregnancy outcomes and perinatal outcomes. [ABSTRACT FROM AUTHOR]