Cytomegalovirus (CMV) infection is one of the most common viral infections in human and it is known to cause primary and recurrent infections. CMV is spread to the fetus in 40% of pregnancies in primary infection, while 0.5-1% of pregnancies in recurrent infection are known to cause congenital infections. Only 10% of such infections are presented with severe symptoms, with the other 90% being asymptomatic. However, there are no definite methods to predict the manifestation of fetal infections or specific treatments in such cases. Intraventricular calcification, ventriculomegaly, intraventricular adhesion, abnormal patterns of brain fissures, brain atrophy, abnormal findings of cerebellum and cisterna magna, and hyperechoic bowels can be presented by ultrasonography in CMV infection. We introduce a case of CMV infection presented as ventriculomegaly and hyperechoic bowels by ultrasonography and pathologically confirmed by autopsy.
Atrophy ; Autopsy ; Brain ; Cerebellum ; Cisterna Magna ; Cytomegalovirus Infections* ; Cytomegalovirus* ; Echogenic Bowel ; Fetus ; Humans ; Hydrocephalus* ; Pregnancy ; Ultrasonography ; Ultrasonography, Prenatal*

OBJECTIVE: To assess the value of low-depth whole-genome copy number variation sequencing (CNV-seq) for the analysis of chromosomal copy number variations among fetuses with echogenic bowel (EB). METHODS: A total of 163 fetuses were included in this study. Amniotic fluid (162 cases) or chorionic villi (1 case) were collected and subjected to CNV-seq for the analysis of CNVs. RESULTS: Thirteen (8.0%) pathogenic CNVs were detected, including 9 (5.5%) aneuploidies and 4 (2.4%) CNVs. The detection rate of the isolated EB group and combined EB group were 1.7% (1/58) and 11.4% (12/105), respectively. There was a significant difference between the two groups (P < 0.05). A Xp22.1 duplication was detected in both groups, and the fetuses were predicted as female DMD carriers and born healthy. Nine cases of aneuploidies and 2 (likely) pathogenic CNVs were identified in the combined EB group, all of them have warranted induced labor. CONCLUSION The prevalence of chromosomal aneuploidies and pathogenic CNVs in fetuses with combined EB was much higher than isolated EB, and most of them may warrant termination of pregnancy. Compared with isolated EB, more attention should be paid to combined EB, for which prenatal diagnosis and genetic counseling should be carried out in time.
Amniotic Fluid ; Aneuploidy ; Chromosome Aberrations ; DNA Copy Number Variations ; Echogenic Bowel ; Female ; Humans ; Pregnancy ; Prenatal Diagnosis ; Technology

Genetic ultrasonography refers to the evaluation of risk of chromosomal abnormalities via various soft sonographic markers. Although the maternal serum test is the primary screening method for chromosomal abnormalities, genetic ultrasonography is also widely used and can help increase detection rates. To date, many soft markers, including choroid plexus cysts, echogenic intracardiac foci, mild ventriculomegaly, nuchal fold thickening, echogenic bowel, mild pyelectasis, short femur and humerus length, and absent or hypoplastic nasal bone, have been reported. An aberrant right subclavian artery was the most novel soft marker introduced. Because these soft markers involve diverse relative risks of chromosomal abnormalities, it is difficult to apply them to clinical practice. To optimize the efficacy of genetic ultrasonography, it is important to understand the precise relative risks of chromosomal abnormalities innumerous soft markers and integrate these risks with each other and the results of maternal serum screening.
Choroid Plexus ; Chromosome Aberrations* ; Down Syndrome ; Echogenic Bowel ; Femur ; Humerus ; Mass Screening ; Nasal Bone ; Nuchal Translucency Measurement ; Pyelectasis ; Subclavian Artery ; Ultrasonography*

OBJECTIVE: To determine the risk of Down syndrome in fetuses with sonographic markers using the likelihood ratios and individual risk assessment. METHODS: We retrospectively evaluated the midtrimester genetic sonographic features of fetuses with Down syndrome and compared them with euploid fetuses. Patients were referred for an increased risk of aneuploidy and evaluated for the presence of structural defects, a nuchal fold, short long bones, pyelectasis, brachycephaly, small stomach, and hyperechoic bowel. Outcome information included the results of genetic amniocentesis (if performed), the results of pediatric assessment, and follow-up after birth. The sensitivity, specificity, and likelihood ratios for markers ware calculated isolated findings. RESULTS: There were 59 fetuses with Down syndrome and 600 euploid fetuses. The presence of any marker resulted in sensitivity for the detection of Down syndrome of 86.4% with a false-positive rate of 13.6%. Structural defect had a likelihood ratio of 77.8. As an isolated marker, the nuchal fold, short humerus, short femur, echogenic bowel and renal pyelectasia has a likelihood ratio of 20.2, 12.7, 3.9, 2.5, 1.1 respectively. Other isolated markers had low likelihood ratios because of the higher prevalence in the unaffected population. CONCLUSION: Combining second-trimester serum testing and fetal sonography is a feasible approach to Down syndrome screening, compatible with current obstetric practice. Although an isolated marker with a low likelihood ratio may not increase a patient's risk of Down syndrome, the presence of such a marker precludes reducing the risk of aneuploidy. This information will be useful in counseling pregnant women who are at high risk for fetal Down syndrome and who prefer to undergo genetic sonography before deciding about genetic amniocentesis.
Amniocentesis ; Aneuploidy ; Counseling ; Craniosynostoses ; Down Syndrome* ; Echogenic Bowel ; Female ; Femur ; Fetus ; Follow-Up Studies ; Humans ; Humerus ; Mass Screening* ; Nuchal Translucency Measurement ; Parturition ; Pregnancy ; Pregnancy Trimester, Second* ; Pregnancy* ; Pregnant Women ; Prenatal Diagnosis ; Prevalence ; Pyelectasis ; Retrospective Studies ; Risk Assessment ; Sensitivity and Specificity ; Stomach ; Ultrasonography*

OBJECTIVE: To determine the risk of Down syndrome in fetuses with sonographic markers using the likelihood ratios and individual risk assessment. METHODS: We retrospectively evaluated the midtrimester genetic sonographic features of fetuses with Down syndrome and compared them with euploid fetuses. Patients were referred for an increased risk of aneuploidy and evaluated for the presence of structural defects, a nuchal fold, short long bones, pyelectasis, brachycephaly, small stomach, and hyperechoic bowel. Outcome information included the results of genetic amniocentesis (if performed), the results of pediatric assessment, and follow-up after birth. The sensitivity, specificity, and likelihood ratios for markers ware calculated isolated findings. RESULTS: There were 59 fetuses with Down syndrome and 600 euploid fetuses. The presence of any marker resulted in sensitivity for the detection of Down syndrome of 86.4% with a false-positive rate of 13.6%. Structural defect had a likelihood ratio of 77.8. As an isolated marker, the nuchal fold, short humerus, short femur, echogenic bowel and renal pyelectasia has a likelihood ratio of 20.2, 12.7, 3.9, 2.5, 1.1 respectively. Other isolated markers had low likelihood ratios because of the higher prevalence in the unaffected population. CONCLUSION: Combining second-trimester serum testing and fetal sonography is a feasible approach to Down syndrome screening, compatible with current obstetric practice. Although an isolated marker with a low likelihood ratio may not increase a patient's risk of Down syndrome, the presence of such a marker precludes reducing the risk of aneuploidy. This information will be useful in counseling pregnant women who are at high risk for fetal Down syndrome and who prefer to undergo genetic sonography before deciding about genetic amniocentesis.
Amniocentesis ; Aneuploidy ; Counseling ; Craniosynostoses ; Down Syndrome* ; Echogenic Bowel ; Female ; Femur ; Fetus ; Follow-Up Studies ; Humans ; Humerus ; Mass Screening* ; Nuchal Translucency Measurement ; Parturition ; Pregnancy ; Pregnancy Trimester, Second* ; Pregnancy* ; Pregnant Women ; Prenatal Diagnosis ; Prevalence ; Pyelectasis ; Retrospective Studies ; Risk Assessment ; Sensitivity and Specificity ; Stomach ; Ultrasonography*