Incidental Prenatal Diagnosis of Congenital Inguinal Hernia: A Case Report.

Prenatal congenital inguinal hernia is a rare condition, with limited cases reported in the literature. Accurate prenatal diagnosis is crucial for appropriate management and outcomes. We report a case of a 44-year-old woman at 36 weeks of gestation with well-controlled gestational diabetes diagnosed with prenatal congenital inguinal hernia. The patient's antenatal history included abnormal first-trimester screening tests for Down syndrome, but subsequent amniocentesis revealed no chromosomal abnormalities. Ultrasonography at 36 weeks showed an enlarged right scrotum with heterogeneous consistency and visible bowel peristaltic waves without signs of bowel obstruction, strangulation, or incarceration. At 39 weeks, oligohydramnios was diagnosed, leading to a decision for labor induction. However, the patient underwent a cesarean section upon her desire, giving birth to a male infant with congenital inguinal hernia. Both mother and child had a normal six-month postpartum follow-up. This case underscores the significance of detailed third-trimester ultrasonography in diagnosing prenatal congenital inguinal hernia. Early detection allows for better planning and management, highlighting the value of routine prenatal assessments for fetal organ status and early identification of malformations.

Advantages of current fetal neuroimaging and genomic technologies in prenatal diagnosis: A clinical case.

The diagnosis of prenatal microcephaly, as well as the possibility of underlining a genetic cause, is becoming more frequent thanks to advances in prenatal imaging and parallel massive sequencing. One case of primary microcephaly in three sibs demonstrates how complementary diagnostic exams can help to diagnose and establish the etiology.

Clinical and molecular cytogenetic findings and pregnancy outcomes of fetuses with isochromosome Y.

BACKGROUND: The mosaic forms and clinical phenotypes of fetuses with isochromosome Y are difficult to predict. Therefore, we summarized the cases of nine fetuses with isochromosome Y identified in prenatal diagnosis with a combination of molecular cytogenetic techniques, providing clinical evidence for prenatal genetic counseling. METHODS: The prenatal diagnosis and pregnancy outcomes of nine fetuses with isochromosome Y were obtained by a  retrospective analysis. Isochromosome Y was identified prenatally by different approaches, such as conventional karyotyping, chromosomal microarray analysis (CMA), quantitative fluorescent polymerase chain reaction (QF-PCR) and fluorescence in situ hybridization (FISH). RESULTS: Seven idic(Y) fetuses and two i(Y) fetuses were identified. One fetus was complete for i(Y)(p10), and the rest with 45,X had mosaic forms. A break and fusion locus was identified in Yp11.3 in one fetus, in Yq11.22 in six fetuses and in Yp10 in two fetuses. The CMA results suggested that different deletions and duplications were found on the Y chromosome. The deletion fragments ranged from 4.7 Mb to the entire Y chromosome, and the duplication fragments ranged from 10.4 to 18.0 Mb. QF-PCR analysis suggested that the AZF region was intact in one fetus, four fetuses had AZFb+c+d deletion, one fetus had AZFa+b+c+d deletion, and one fetus had AZFc+d deletion. Finally, four healthy male neonates were delivered successfully, but the parents of the remaining five fetuses, including three healthy and two unhealthy fetuses, chose to terminate their pregnancies. CONCLUSION: The fetus and neonate phenotype of prenatally detected isochromosome Y usually is that of a normally developed male, ascertained in the absence of other indicators of a fetal structural anomaly. Our study provides clinical reference materials for risk assessment and permits better prenatally counseling and preparation of parents facing the birth of isochromosome Y fetuses.

Combined diagnosis of QF-PCR and CNV-Seq in fetal chromosomal abnormalities: A new perspective on prenatal diagnosis.

OBJECTIVE: This study aimed to evaluate the effect of QF-PCR and CNV-seq in diagnosing prenatal fetal chromosomal aberrations, explore the advantages and necessity of multimethod joint diagnosis. METHODS: We chose pregnant women with the indication of fetal chromosome examination in our hospital last year, collected 657 cases of amniotic fluid for QF-PCR and CNV-seq analyzes. RESULTS: While detecting aneuploidy, the coincidence rate of QF-PCR and CNV-seq was 100% (56/56). For all 46 chromosomes, 523 cases (79.60%, 523/657) coincided precisely, 128 cases (19.48%, 128/657) showed abnormality with CNV-seq, 8 cases (1.22%, 8/657) revealed abnormality by QF-PCR. In serological Down's syndrome screening, 328 cases showed a high risk of trisomy 21, of which CNV-seq and QF-PCR were consistent in 4 cases (1.22%, 4/328), CNV-seq found 87 cases of CNVs in 78 samples except for chromosomal aneuploidy abnormalities, among these, 18 cases (20.69%, 18/87) were polymorphic, 7 cases (8.05%, 7/87) might cause disease, 13 cases (14.94%, 13/87) caused disease explicitly, 21 cases (24.14%, 21/87) were possibly benign, 17 cases (19.54%, 17/87) were explicitly benign, and the classification of 11 cases (12.64%, 11/87) was unclear. CONCLUSION: QF-PCR and CNV-seq were highly consistent in diagnosing chromosomal aneuploidy. The high risk of serological Down's screening might not only due to the aneuploidy of chromosomes 21, 18, and NTD, but also the microdeletion or microduplication of all 46 chromosomes. So using CNV-seq combined with QF-PCR could effectively reduce the risk of missed diagnosis.

Prenatally Diagnosed Infantile Myofibroma of Sartorius Muscle-A Differential for Soft Tissue Masses in Early Infancy.

BACKGROUND: Infantile myofibromatosis (IM) is a soft tissue disease with solitary or multiple benign tumors, and an etiology still unknown. IM is a mesenchymal disorder of early infancy and is more frequent in males. IM may present as a solitary lesion of the skin, bone, muscle, subcutaneous tissue, located at the head, neck, and trunk, with good prognosis; or, as a multicentric form, with or without visceral involvement (heart, lung, gastrointestinal tract, kidney), with a poor prognosis. The definitive diagnosis of IM is confirmed by pathology. Treatment may be conservative, surgical, or chemotherapeutical. CASE PRESENTATION: A two months old female patient, prenatally diagnosed at 30 weeks, presenting with a tumor on the antero-internal aspect of the left thigh. She was admitted due to rapid postnatal evolution, and the patient required surgery for tumor resection. Previously, clinically, biological and imaging investigations were performed, but the final diagnosis was histological and by immunostaining. The patient had a favorable postoperative outcome. CONCLUSIONS: Despite its low frequency, IM should be considered in the differential diagnosis of soft tissue masses at an early age. The clinical form (solitary or multicentric), location, and visceral involvement will dictate the treatment and prognosis.

Value of Exome Sequencing in Diagnosis and Management of Recurrent Non-immune Hydrops Fetalis: A Retrospective Analysis.

The purpose of the study was to use exome sequencing (ES) to study the contribution of single-gene disorders to recurrent non-immune hydrops fetalis (NIHF) and retrospectively evaluate the value of genetic diagnosis on prenatal management and pregnancy outcome. From January 2012 to October 2018, a cohort of 28 fetuses with recurrent NIHF was analyzed by trio ES. Fetuses with immune hydrops, non-genetic factors (including infection, etc.), karyotype, or CNV abnormalities were excluded. Variants were interpreted based on ACMG/AMP guidelines. Fetal therapy was performed on seven fetuses. Of the 28 fetuses, 10 (36%) were found to carry causal genetic variants (pathogenic or likely pathogenic) in eight genes (GBA, GUSB, GBE1, RAPSN, FOXC2, PIEZO1, LZTR1, and FOXP3). Five (18%) fetuses had variant(s) of uncertain significance (VUS). Of the 10 fetuses with definitive molecular diagnosis, five (50%) were diagnosed with inborn errors of metabolism. Among the seven fetuses who received fetal therapy, two had definitive molecular diagnosis and resulted in neonatal death. Among the remaining five fetuses with negative results, four had newborn survival and one had intrauterine fetal death. Trio ES could facilitate genetic diagnosis of recurrent NIHF and improve the prenatal management and pregnancy outcome.

Is fetal magnetic resonance imaging indicated in patients with isolated ventriculomegaly?

OBJECTIVE: Ventriculomegaly is one of the most common anomalies encountered at obstetric ultrasound and it necessitates follow up. Fetal magnetic resonance imaging (MRI) can be used to confirm the ultrasound diagnose or to detect additional anomalies. Aim of this study is to assess follow up and management of fetal ventriculomegaly shown by ultrasound, and to evaluate additional diagnostic contribution of MRI. STUDY DESIGN: This study was conducted retrospectively including 89 patients who had fetal MRI subsequent to ultrasound diagnose of ventriculomegaly in between 2011-2017. Medical records of patients were investigated and accompanying anomalies, congenital infection, chromosomal examination, degree and progression of ventriculomegaly, neonatal imaging and diagnose, and neurodevelopmental findings on follow up were evaluated. Patients were classified in two groups as isolated and nonisolated ventriculomegaly, and subgroups mild, moderate, severe were formed according to their findings. SPSS 23.0 programme was used for statistical analysis. RESULTS: Ultrasound and following MRI was performed in a range of 18-35th gestational weeks, diagnoses were isolated ventriculomegaly for 56 patients and nonisolated ventriculomegaly for 33 patients. Progression and neurodevelopmental delay was higher in severe nonisolated ventriculomegaly group. There was not significant contribution of MRI in the follow up of isolated ventriculomegaly (p < 0.001), and diagnostic imaging findings declined in neonatal period with proceeding normal neurodevelopment in 92.7% of patients followed with diagnosis of isolated ventriculomegaly. CONCLUSION: When isolated ventriculomegaly is detected, ultrasound performed by an experienced team is mostly sufficient. MRI can be used in suspicious cases or when ventriculomegaly progresses.

Prenatal diagnose of a fetus with Harlequin ichthyosis in a Chinese family.

OBJECTIVE: Harlequin ichthyosis (HI) was the most severe form of ichthyoses, which leaded to neonatal death in 50% of cases. It was the result of mutations in ABCA12 gene. With the development of ultrasound skills and genetic analysis, HI could be prenatal diagnosed. CASE REPORT: Here, we reported a case of HI, which was prenatal diagnosed by ultrasound examination and genetic analysis. The fetus was found that severe ectropion, eclabium, flattened nose, and rudimentary ears by ultrasound at 20 weeks gestation. A molecular genetic analysis was performed and revealed two mutations in the ABCA12 gene. One of two mutations were not reported in the past. The fetus was terminated. CONCLUSION: HI was associated with the poor prognosis of HI neonates. Prenatal ultrasound and genetic analysis were important for prenatal diagnosis of HI and were helpful to give sufficient prenatal counsels for the family with HI baby.

Prenatal diagnosis of autosomal recessive Robinow syndrome using 3D ultrasound.

This article hypothesizes that it is possible to detect and diagnose both the autosomal recessive and dominant forms prenatally using ultrasound. By focusing on the characteristic phenotypical presentation, the examinator is able to diagnose the syndrome prenatally, which is of clinical importance to the parents and counseling for the consideration of terminating the pregnancy.

Diagnóstico prenatal de lipoma cardiaco. Presentación de un caso / Prenatal Diagnose of the cardiac lipoma. Case Presentation

Presentación de caso: Se presentó esta revisión con el objetivo de abordar una entidad infrecuente en el diagnóstico de las cardiopatías fetales. Se presenta un caso de un feto con una tumoración cardíaca, cuyo diagnóstico fue realizado por estudio ultrasonográfico en el segundo trimestre del embarazo. Se describen los hallazgos ultrasonográficos y la correlación con el diagnóstico anatomopatológico. Se revisó la literatura sobre el diagnóstico histológico y ecográfico de esta cardiopatía en el desarrollo fetal.

Case Presentation: A revisal was presented with the objective to deal with an uncommon entity in the diagnoses of fetal cardiopathies. A case of a fetus is presented with a cardiac tumor, this diagnose was obtained by an ultrasonography study in the second semester of the pregnancy. Ultrasonography findings are described and the correlation with the anatomy pathological diagnose. The literature was revised about the histology and the echocardiopathy diagnosing in the fetal development.

De novo reciprocal translocation t(5;11)(q22;p15) associated with hydrops fetalis (reciprocal translocation and hydrops fetalis).

OBJECTIVE: This is a case of a prenatally diagnosed non-immune hydrops fetalis (NIHF) associated with translocation t(5;11)(q22;p15). An association between NIHF and this translocation has not been reported previously. CASE REPORT: The patient was referred to the perinatology clinic with hydrops fetalis diagnosis at 23 weeks' gestation. We noted that the fetus had bilateral pleural effusion, ascites, widespread subcutaneous edema, membranous ventricular septal defect, hypoplastic fifth finger middle phalanx, clinodactyly, single umbilical artery. We performed cordocentesis. Chromosomal analysis on blood showed a balanced translocation between the long arm of chromosome 5 and the short arm of chromosome 11 with karyotype of 46,XX,t(5;11)(q22;p15). CONCLUSION: We present prenatal diagnosis of a de novo translocation (5;11) in a hydropic fetus with ultrason abnormalities. In our case, karyotype analysis of the fetus, mother and father provided evidence of a de novo translocation, that might explain the NIHF.