OBJECTIVE: To investigate the clinical significance of 3-vessel subsequence view in prenatal screening and diagnosis of fetal congenital heart disease. METHODS: The 3-vessel subsequence view of 231 fetuses with congenital heart disease was obtained with Sequoia 512, Voluson 730 and E8 color Doppler ultrasonographic diagnostic system. RESULTS: Of the 231 consecutive fetuses with congenital heart defects (CHD), 169 (73%) had at least 1 abnormality on the 3-vessel subsequence view. When ventricl septal defects and so on were excluded, the detection rate increased to 91%. Some defects had several abnormalities visualized at the 3-vessel subsequence view. CONCLUSION The 3-vessel subsequence view has high detection rate in identifying the presence of CHD.
Female ; Fetal Diseases ; diagnostic imaging ; Fetus ; Heart Defects, Congenital ; diagnostic imaging ; Humans ; Pregnancy ; Ultrasonography, Prenatal

OBJECTIVE: To assess the value of fetal anteroposterior renal pelvic diameter (APD) in predicting antenatal hydronephrosis requiring surgical treatment after birth. METHODS: A total of 525 cases of antenatal hydronephrosis detected by prenatal ultrasonography (ultrasound index APD ≥ 4 mm in the second trimester and APD ≥ 7 mm in the third trimester) in Zhejiang Prenatal Diagnosis Center from June 2007 to June 2018 were retrospectively analyzed. ROC curve was used to analyze the relationship between these ultrasound indicators and the requirement for surgical treatment after birth. RESULTS: There were 162 cases (30.9%) diagnosed in the second trimester and 363 cases (69.1%) diagnosed in the third trimester; 131 cases were diagnosed pathologically after birth, of which 121 finally underwent surgical treatment. The area under ROC curve (AUC) of APD in middle pregnancy for prediction of requiring surgery 1-12 years after birth was 0.910; the cut-off value of APD was 8.45 mm with a sensitivity of 97.1%, specificity of 70.9%, positive predictive value (PPV) of 47.9%, and negative predictive value (NPV) of 98.9%. The AUC of APD in late pregnancy for prediction of requiring surgery 1-12 years after birth was 0.800; the cut-off value of APD was 12.25 mm with a sensitivity of 66.7%, specificity of 81.2%, PPV of 51.7%, and NPV of 89.1%. CONCLUSIONS APD in pregnancy can be used to predict whether the fetus with hydronephrosis needs surgical treatment after birth, and the prediction value of APD in the middle pregnancy is better.
Female ; Fetus ; diagnostic imaging ; Humans ; Hydronephrosis ; diagnostic imaging ; surgery ; Kidney Pelvis ; diagnostic imaging ; Pregnancy ; Retrospective Studies ; Ultrasonography

OBJECTIVE: To analyze the application of three-dimensional power Doppler sonography (3-DPDS) in evaluation of the superior mesenteric artery (SMA) and superior mesenteric vein (SMV) in second-trimester fetus. METHODS: Three-dimensional volume probe was used to collect the 3-DPDS blood flow images in 50 normal fetuses of 22-24 weeks and 50 fetuses of 30-32 weeks, respectively. The characteristics of three-dimensional ultrasound were analyzed. The clinical and imaging data of 4 fetuses of 26-32 weeks with midgut volvulus were analyzed retrospectively. RESULTS: The display rates of SMA and SMV were 93%in normal group by 3-DPDS and those in volvulus group were 4/4 and 3/4, respectively. The SMV trunk was parallel to and on the right side of the SMA in the normal group, while 3 cases in volvulus group showed the characteristic relationship of SMV swirling around SMA. CONCLUSIONS 3-DPDS can be used to observe the spatial relationship of SMA and SMV visually in fetus during the second trimester and is of value to diagnose and predict the outcome of midgut volvulus.
Digestive System Abnormalities ; diagnostic imaging ; Female ; Fetus ; Humans ; Intestinal Volvulus ; diagnostic imaging ; Mesenteric Artery, Superior ; diagnostic imaging ; Pregnancy ; Pregnancy Trimester, Second ; Retrospective Studies ; Ultrasonography, Doppler ; standards

OBJECTIVE: To investigate the application value of whole exome sequencing technology in fetuses with congenital structural abnormalities. METHODS: The chromosomal abnormalities of 1147 families were analyzed. According to the follow-up results, the data of fetuses with new phenotypes in late pregnancy or after birth were reanalyzed. Subgroups were divided according to the organs involved and whether single malformation or not. The gene regulatory network map was drawn by using string database and Cytoscape software. Fisher exact probability method was used to compare the difference of the diagnostic rate of pathogenic genes among the groups. RESULTS: A total of 160 fetal cases received positive molecular diagnosed, involving 178 variant sites of 125 pathogenic genes, including 8 cases (4.9%, 8/163) by data reanalysis, and the overall positive diagnosis rate was 13.9%. Diagnostic rate was highest in the group of skeletal malformation (31.5%, 39/124) and lowest in that with thoracic malformation (0, 0/32). The gene clusters of fetal edema and intrauterine growth restriction were independent, and were not associated with the major structural malformations. The probability of each parent carrying the same recessive gene variant was 0.03 (39/1146) and 0.08 (4/53) with positive family history. CONCLUSION For fetuses with congenital structural abnormalities that are negative for conventional genetic tests, 13.9% of phenotypic associated pathogenic/likely pathogenic genetic variants can be detected by whole exome sequencing technology. Its application value for prenatal diagnosis varies in fetus with different organs involved. Reanalysis of sequencing data for cases with new phenotypes in late pregnancy or after birth can further improve the molecular diagnosis rate. Further investigations are needed to explore the related genetic mechanisms.
Female ; Fetal Diseases ; Fetus/diagnostic imaging* ; Humans ; Pregnancy ; Prenatal Diagnosis ; Technology ; Ultrasonography, Prenatal ; Whole Exome Sequencing

OBJECTIVE: To analyze the ultrasonographic phenotype and result of genetic testing in six fetuses carrying a 17q12 microdeletion. METHODS: Chromosomal microarray analysis (CMA) was carried out for 6200 pregnant women undergoing prenatal diagnosis from December 2016 to May 2021. RESULTS: CMA has identified 6 fetuses with a microdeletion in the 17q12 region, which spanned approximately 1.4 Mb and encompassed at least 13 OMIM genes. All fetuses have shown bilateral renal parenchymal echo enhancement. Four fetuses also had other ultrasonographic phenotypes. The parents of 4 fetuses had refused parental verification, whilst the remaining two fetuses were confirmed to be de novo in origin. CONCLUSION The prenatal ultrasonographic phenotype of 17q12 microdeletion is mainly enhanced bilateral renal parenchymal echos. CMA can facilitate detection of the 17q12 microdeletion.
Female ; Humans ; Pregnancy ; Genetic Testing ; Phenotype ; Fetus/diagnostic imaging* ; Prenatal Diagnosis ; Parents

OBJECTIVE: To explore the genetic basis for three fetuses with duodenal atresia or stenosis detected by ultrasonography. METHODS: Clinical data of three fetuses identified at the Women's Hospital Affiliated to Zhejiang University School of Medicine between January 2021 and August 2022 were collected. Umbilical cord blood and amniotic fluid samples of the fetuses and peripheral blood samples of their parents were collected and subjected to G-banded chromosomal karyotyping and single nucleotide polymorphism array (SNP array) analysis. RESULTS: Prenatal ultrasound of the three fetuses revealed duodenal atresia or stenosis. No karyotypic abnormality was detected, whilst SNP array has identified 1.4 ~ 1.9 Mb duplications at 17q12 in all of them, which were all predicted to be pathogenic copy number variations (CNVs). CONCLUSION The 17q12 duplications probably underlay the duodenal atresia and stenosis in these fetuses, and chromosomal CNVs should be considered in duodenal atresia and stenosis.
Pregnancy ; Humans ; Female ; DNA Copy Number Variations ; Constriction, Pathologic ; Prenatal Diagnosis ; Fetus/diagnostic imaging* ; Chromosome Aberrations

OBJECTIVE: To explore the clinical phenotype and genetic variants of a fetus with Glutaracidemia type II C (GA II C). METHODS: Clinical data of a 32-year-old pregnant woman and her fetus with GA II C diagnosed at the Third Affiliated Hospital of Zhengzhou University in December 2021 due to the enlargement and enhanced echo of the kidneys and oligohydramnios fluid at 17 weeks were analyzed retrospectively. Amniotic fluid sample of the fetus and peripheral blood samples of the couple were collected for whole exome sequencing (WES). Candidate variants were verified by Sanger sequencing. Copy number variation (CNV) was detected by using low-coverage whole genome sequencing (CNV-seq). RESULTS: At 18 weeks' gestation, ultrasound revealed that the fetus had enlargement and enhanced echo of the kidneys along with no echo of renal parenchymal tubular fissure and oligohydramnios. MRI at 22 weeks' gestation confirmed that both kidneys were enlarged with uniformly increased abnormal T2 signal and decreased DWI signal. The volume of both lungs was small, with slightly higher T2 signal. No CNV was detected in the fetus. WES revealed that the fetus has harbored compound heterozygous variants of the ETFDH gene, namely c.1285+1G＞A and c.343_344delTC, which were inherited from its father and mother, respectively. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), both variants were classified as pathogenic (PVS1+PM2_Supporting+PS3_Supporting; PVS1+PM2_Supporting+PM3). CONCLUSION The c.1285+1G＞A and c.343_344delTC compound heterozygous variants of the ETFDH gene probably underlay the disease in this fetus. Type II C glutaric acidemia may manifest as bilateral kidney enlargement with enhanced echo and oligohydramnios. Discovery of the c.343_344delTC has enriched the spectrum of ETFDH gene variants.
Pregnancy ; Humans ; Female ; Mutation ; DNA Copy Number Variations ; Oligohydramnios/genetics* ; Retrospective Studies ; Phenotype ; Fetus/diagnostic imaging*

OBJECTIVE: To review the application of medical imaging in diagnosis and management of fetal hepatic hemangioma. METHODS: Clinical data and imaging findings of 14 cases of fetal hepatic hemangioma, who were diagnosed prenatally and followed up in Women's Hospital of Zhejiang University School of Medicine from February 2014 to September 2018 were retrospective reviewed. RESULTS: The fetal hepatic hemangiomas were single lesions in all 14 cases, and most of them were located in the right lobe of the liver (13/14). Ultrasound images were mainly hypoechoic with heterogeneity, the honeycomb-like or grid-like anechoic regions were presented in 9 lesions and circumferential blood flow was observed with low to moderate blood flow resistance index. MRI findings showed well-defined lesions with low signal intensity on T1WI, and high or slightly high signal intensity on T2WI. Among 14 cases, there were 8 cases of induced labor and 6 cases of continuing pregnancy. In 6 cases of successful delivery, 2 were treated with propranolol, 4 cases were followed-up without treatment. The growth and development of 6 children were normal. The lesions of hepatic hemangioma showed no significant changes in 3 children and were reduced in the other 3 children, of whom the lesion was complete disappeared in 1 case. CONCLUSIONS Fetal hepatic hemangiomas present relatively typical imaging characteristics, and prenatal diagnosis can be made with ultrasound and MRI. If there are no complications, the fetus with hepatic hemangioma can be delivered at full term with a good outcome.
Female ; Fetus ; Hemangioma ; diagnostic imaging ; therapy ; Humans ; Liver Neoplasms ; diagnostic imaging ; therapy ; Magnetic Resonance Imaging ; Pregnancy ; Pregnancy Outcome ; Prenatal Diagnosis ; Retrospective Studies

Brain ; blood supply ; Fetus ; blood supply ; Heart Defects, Congenital ; diagnostic imaging ; Humans ; Infant, Newborn ; Middle Cerebral Artery ; diagnostic imaging ; Ultrasonography, Doppler, Color ; Ultrasonography, Prenatal

OBJECTIVETo investigate the implications of a prenatal diagnosis of single umbilical artery (SUA) for chromosomal abnormalities and neonatal outcomes.

METHODSFrom January, 2008 to June, 2012, color Doppler ultrasound identified 44 fetuses with SUA. Prenatal diagnoses with amniocentesis or umbilical blood sampling were subsequently ordered for routine chromosome karyotyping and the newborns were followed up for assessing the neonatal outcomes.

RESULTSOf all the 44 fetuses, 24 had uncomplicated SUA, and 20 had other concurrent abnormalities (including 8 with abnormal ultrasound soft indexes and 12 with chromosomal abnormalities). The two groups of fetuses showed significant differences in gestational weeks at delivery and incidence of chromosomal abnormalities but not in neonatal weight, placenta weight or APGAR score.

CONCLUSIONSFetuses with a prenatal diagnosis of SUA and other development abnormities need to undergo prenatal chromosomal examination. For fetuses with uncomplicated SUA, careful ultrasound examination is necessary to avoid missed diagnosis of potential congenital abnormalities.

Adult ; Chromosome Disorders ; diagnostic imaging ; genetics ; Female ; Fetus ; abnormalities ; Humans ; Karyotyping ; Pregnancy ; Pregnancy Trimester, Second ; Pregnancy Trimester, Third ; Single Umbilical Artery ; diagnostic imaging ; Ultrasonography, Prenatal ; Young Adult