To compare the prenatal diagnostic performance as well as appearance of ultrasonic details between 2-dimensional ultrasonography (2DUS) combined with 3-dimensional ultrasonography (3DUS) and 2DUS alone for hypospadias. A total of 47 fetuses were enrolled and examined by 2DUS and then 3DUS. Postnatal follow-up data were obtained and 28 cases were confirmed of hypospadias. Although not statistically significant, there was a trend toward higher AUC (0.85 vs. 0.76; p = 0.08), ACC (85.1 vs. 76.6%; p = 0.22), SEN (85.7 vs. 78.6%; p = 0.63), and SPE (84.2 vs. 73.7%; p = 0.50) for 2DUS combined with 3DUS compared with 2DUS alone. The agreement between both methods was moderate [kappa = 0.592]. Both modalities showed accurately the short penis and blunt tip of the penis. 2DUS in combination with 3DUS showed more cases in other detailed features, such as "chordee", a "hooded" incomplete prepuce, and so on. Overall 2DUS combined with 3DUS showed a trend toward higher performance compared with 2DUS alone for the diagnosis of hypospadias, although the difference was not statistically significant. 3DUS is a useful complement for 2DUS in the diagnosis of fetal hypospadias and may provide more detailed information related to its diagnosis and prognosis.

To evaluate the impact of ultrasonography on identifying noninvasive prenatal screening (NIPS) false-negative aneuploidy.

This study compared clinical and radiologic differences between cystic biliary atresia (cBA) and choledochal cyst (CC) type Ia/b.

This study explored the performance of prenatal ultrasonography in the differential diagnosis of cystic biliary atresia (CBA) and choledochal cyst (CC).

Ultrasound is recommended as a first-line requirement prior to MRI or amniotic fluid analysis, which have high diagnostic accuracy for esophageal atresia (EA). Therefore, the aim of the present prospective study was to evaluate the accuracy of high-performance ultrasound for the prenatal examination of EA/tracheoesophageal fistula (TOF). In total, 64 pregnant women with fetuses suspected of having EA/TOF participated in the study. The gestational age of the fetuses ranged between 16 and 40 weeks, with a mean of 26.33±3.57 weeks. Ultrasound images of the esophagus and trachea on parasternal and para-aortic axis longitudinal and transverse sections were compared with the results of standard postnatal diagnostic tests. Sensitivity and specificity values were determined and a receiver operating characteristic (ROC) curve was generated. Among all the fetuses screened, 16 were suspected of having EA/TOF during the prenatal ultrasonography. In postnatal examinations, 34 cases of EA/TOF were confirmed, corresponding to an EA/TOF incidence of 53.2% (95% CI, 40.2-65.7%). The area under the ROC curve (AUC) was lower for prenatal ultrasonography compared with postnatal diagnostic tests (AUC=0.55; 95% CI, 0.44-0.65). Considering postnatal examination as the gold standard, prenatal ultrasonography had a sensitivity of 29.4% (95% CI, 15.1-47.5%) and a specificity of 80% (95% CI, 61.4-92.3%) for the diagnosis of EA/TOF. In addition, the positive predictive value was 62.5% (95% CI, 35.4-82.8%), the negative predictive value was 50% (95% CI, 35.2-64.8%), the positive likelihood ratio was 1.47 (95% CI, 0.61-3.56) and the negative likelihood ratio was 0.88 (95% CI, 0.67-1.17). The results of the present study indicate that preoperative ultrasound has poor sensitivity but very good specificity for the diagnosis of EA/TOF. The use of ultrasound alone would result in a high rate of a false-positive diagnoses. However, prenatal ultrasonography may be useful as a preliminary screening tool to exclude patients for suspected EA/TOF.

The aim of this study was to compare the accuracy of cystoscopy and ultrasonography for the prenatal diagnosis of abnormally invasive placenta (AIP), including its subgroups: placenta accreta (PA), placenta increta (PI), and placenta percreta (PP).A retrospective observational study including a total of 85 pregnant women at high risk for AIP underwent prenatal cystoscopy and ultrasonography evaluations. The sensitivity (Se), specificity (Sp), positive predictive value, negative predictive value, and exact diagnosed were calculated and compared for both cystoscopy and ultrasonography. Se and Sp values of cystoscopy and ultrasonography were compared by means of the McNemar test.Of the 85 patients, there were 24 (28.2%) PA, 35 (41.2%) PI, 4 (4.7%) PP, and 22 (25.9%) nonadherent placenta. The mean maternal age and gestational age of delivery were 31.88 ± 4.42 years and 36.14 ± 1.84 weeks, respectively. No one was found to develop any complications with cystoscopy like urinary tract infection, or ureteral injury or perforations. Se in the diagnosis of AIP was 50.8% with ultrasonography and 61.9% for cystoscopy. Sp was 86.4% with cystoscopy and 72.7% for ultrasonography. In subgroups, Se with cystoscopy was 25.0%, 62.9%, and 100.0% in PA, PI, and PP, respectively, and 37.5%, 74.3%, and 100.0%, respectively, for ultrasonography; Sp remained unchanged with 86.4% for cystoscopy and 72.7% for ultrasonography. After McNemar test, no difference was found in either Se or Sp between cystoscopy and ultrasonography in AIP and its subgroups.According to the depth of invasion, the diagnostic value of cystoscopy and ultrasonography is all conspicuous increased and they have similar test validity for prenatal diagnosis of AIP and its subgroups.

Fetal structural anomalies, which are detected by ultrasonography, have a range of genetic causes, including chromosomal aneuploidy, copy number variations (CNVs; which are detectable by chromosomal microarrays), and pathogenic sequence variants in developmental genes. Testing for aneuploidy and CNVs is routine during the investigation of fetal structural anomalies, but there is little information on the clinical usefulness of genome-wide next-generation sequencing in the prenatal setting. We therefore aimed to evaluate the proportion of fetuses with structural abnormalities that had identifiable variants in genes associated with developmental disorders when assessed with whole-exome sequencing (WES).

No abstract available

We aimed to evaluate the additional value of advanced fetal anatomical assessment by ultrasound in pregnancies with twice inconclusive noninvasive testing (NIPT) due to low fetal fraction (FF).

Microvillus inclusion disease (MVID) is a rare, inherited, congenital, diarrheal disorder that is invariably fatal if left untreated. Within days after birth, MVID presents as a life-threatening emergency characterized by severe dehydration, metabolic acidosis, and weight loss. Diagnosis is cumbersome and can take a long time. Whether MVID could be diagnosed before birth is not known. Anecdotal reports of MVID-associated fetal bowel abnormalities suspected by ultrasonography (that is, dilated bowel loops and polyhydramnios) have been published. These are believed to be rare, but their prevalence in MVID has not been investigated. Here, we have performed a comprehensive retrospective study of 117 published MVID cases spanning three decades. We find that fetal bowel abnormalities in MVID occurred in up to 60% of cases of MVID for which prenatal ultrasonography or pregnancy details were reported. Suspected fetal bowel abnormalities appeared in the third trimester of pregnancy and correlated with postnatal, early-onset diarrhea and case-fatality risk during infancy. Fetal bowel dilation correlated with MYO5B loss-of-function variants. In conclusion, MVID has already started during fetal life in a significant number of cases. Genetic testing for MVID-causing gene variants in cases where fetal bowel abnormalities are suspected by ultrasonography may allow for the prenatal diagnosis of MVID in a significant percentage of cases, enabling optimal preparation for neonatal intensive care.

Background: Skeletal dysplasias (SDs) are a heterogeneous group of genetic disorders that primarily affect bone and cartilage. This study aims to identify the genetic causes for fetal SDs, and evaluates the diagnostic yield of prenatal whole-exome sequencing (WES) for this disorder. Methods: WES was performed on 38 fetuses with sonographically identified SDs and normal results of karyotype and single nucleotide polymorphism (SNP) analysis. Candidate variants were selected by bioinformatics analysis, and verified by Sanger sequencing. Results: WES revealed pathogenic or likely pathogenic variants associated with SDs in 65.79% (25/38) of fetuses, variants of uncertain significance (VUS) in SDs-related genes in 10.53% (4/38) cases, and incidental findings in 31.58% (12/38) fetuses. The SDs-associated variants identified in the present study affected 10 genes, and 35.71% (10/28) of the variants were novel. Conclusion: WES has a high diagnostic rate for prenatal SDs, which improves pregnancy management, prenatal counseling and recurrence risk assessment for future pregnancies. The newly identified variants expanded mutation spectrum of this disorder.

Atelosteogenesis type I (AOI) is an autosomal dominant skeletal dysplasia caused by mutations in the filaminB (FLNB) gene with classic and well-recognizable clinical findings. However, parents affected with a mild phenotype, probably with somatic mosaicism, can generate offspring with a much more severe phenotype of AOI. In the present report, we describe a female newborn with classic AOI leading to early neonatal death, whose diagnostic was based on prenatal radiological findings and on the physical examination of the father. Since her father had limb deformities and corporal asymmetry, suggesting somatic mosaicism, his biological samples were analyzed through a gene panel for skeletal dysplasias. A missense mutation not previously described in the literature was detected in the FLNB gene, affecting ∼ 20% of the evaluated cells and, therefore, confirming the diagnosis of mosaic AOI in the father. The molecular analysis of the father was crucial to suggest the diagnosis of AOI in the newborn, since she died early and there were no biological samples available.

To analyze the ultrasound imaging and clinical characteristics of fetuses with umbilical artery thrombosis (UAT), explore the potential causes of UAT and construct a prognostic prediction model to guide clinical practice.

Fraser syndrome (FS) involves multiple malformations and has a 25% recurrence risk among siblings. However, these malformations are difficult to detect prenatally, hampering prenatal diagnosis. Here, we describe a fetus with FS diagnosed using ultrasonography. Ultrasonography revealed congenital high airway obstruction syndrome and renal agenesis. Syndactyly of both hands and cryptophthalmos were noted postnatally, and the diagnosis was confirmed by genetic analysis, which showed novel compound heterozygous variants of FREM2.

Object: To investigate the chromosome abnormalities associated with absent or hypoplastic fetal nasal bone. Methods: Patients with fetal nasal bone anomalies (NBA) referred to our center for prenatal diagnosis between 2017 and 2021 were retrospectively evaluated. All these patients underwent chromosomal microarray and/or karyotyping and received genetic counseling before and after testing. Results: Among 320 fetuses with NBA, chromosomal abnormalities were diagnosed in 89 (27.8%) cases, including 53 cases of trisomy 21, which was the most common type of chromosomal aneuploidy, accounting for 59.6% of all detected abnormalities. In addition to aneuploidies, 29 cases of copy number variants (CNVs) were detected. In cases of isolated NBA with low-risk screening results and without other risk factors, the incidence of fetal chromosomal aneuploidies and pathogenic CNVs is 5.3% (7 in 132 cases). Conclusion: This study suggests that parents of fetuses should be informed about the possibility of fetal aneuploidy and pathogenic CNVs and that discussion with the parents is also recommended, providing data support and reference for clinical counseling.

Porencephaly and schizencephaly are congenital brain disorders that can be caused by COL4A1 mutations, though the underlying mechanism and developmental processes are poorly understood. Here, we report a patient with schizencephaly, detected by fetal ultrasonography and fetal magnetic resonance imaging, with a de novo novel mutation in COL4A1 (c.2645_2646delinsAA, p.Gly882Glu). Our results suggest that the onset of damage that potentially results in schizencephaly occurs mid-pregnancy.

The primary methods for prenatal diagnosis of Clubfoot are ultrasound (US) and magnetic resonance imaging (MRI). An ultrasound is performed between the 1st trimester and the 28th week of pregnancy and it is reported to be used as a diagnostic method alone or in combination with MRI. So far, an international consensus on the most effective screening method has not been reached. This systematic review and meta-analysis were performed to establish the most effective and reliable exam for prenatal diagnosis of Clubfoot. The literature search was conducted using a PIOS-approach from May 2021 to June 2021. Studies reporting cases of prenatal diagnosis of Clubfoot made through US and MRI conducted from January 2010 to June 2021 were included in the study and reviewed by 2 authors. The 23 selected studies included 2318 patients. A total of 11 of the studies included details on the accuracy, while the rest were used to obtain information about the primary methodology utilized. In all the selected studies, US was used as the primary diagnostic instrument. Thirteen of the studies used the US exclusively, while three used MRI in addition to US and seven performed karyotyping after US diagnosis. The US has been shown to be the instrument of choice for the prenatal diagnosis of Clubfoot. International guidelines for an ultrasonography classification of congenital clubfoot are required to reduce the inter-variability accuracy of this procedure.

Accurate prenatal diagnosis of placenta accrete spectrum disorder (PAS) remains a challenge, and the reported diagnostic value of ultrasonography (US) and magnetic resonance imaging (MRI) varies widely. This study aims to systematically evaluate the diagnostic accuracy of US as compared with MRI in the detection of PAS within the identical patient population.

Congenital anomalies are the fifth leading cause of mortality in children under 5 years globally. The greatest burden is faced by those in developing countries, where over 95% of deaths occur. Many of these deaths may have been preventable through antenatal diagnosis and early intervention. This study aims to conduct a systematic review that investigates the use of antenatal ultrasound to diagnose congenital anomalies and improve the health outcomes of infants in low-income and middle-income countries (LMICs).

Fetal double aortic arch (DAA) malformation is a rare congenital heart disease with few reported cases in the literature. We aimed to investigate the characteristics of prenatal ultrasound and postnatal computed tomography angiography (CTA) of DAA and to describe the associated anomalies and clinical outcomes to improve prenatal diagnosis and assist in perinatal management.