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We present a case of Klippel-Feil Syndrome, a congenital skeletal defect where multiple cervical vertebral bodies are fused. Klippel-Feil Syndrome has multiple associated anomalies, with a notable one being Sprengel's deformity. In this case, the patient was given a diagnosis of Klippel-Feil Syndrome prenatally after suspected cervical vertebrae fusion and Sprengel's deformity were seen on both fetal magnetic resonance imaging (MRI) and ultrasound. Prenatal diagnosis of Sprengel's deformity has been reported once in the literature. In this report, we present imaging findings of Sprengel's deformity seen in association with Klippel-Feil Syndrome using a combination of fetal ultrasound and MRI. • Klippel-Feil Syndrome (KFS) is a defect featuring fusion of cervical vertebrae. • Sprengel's deformity should be suspected in cases of KFS. • Prenatal 3D ultrasound and MRI showed Sprengel's deformity and omovertebral bone. [ABSTRACT FROM AUTHOR]

Congenital abnormalities are a common cause of perinatal mortality and may have implications for life expectancy and quality of life in the future. Ultrasound screening in pregnancy can detect major congenital abnormalities in 2–3% of fetuses. Screening provides the opportunity for a diagnosis to be made prior to birth, for further investigations and monitoring to be offered, and for prognosis to be discussed. Conditions may be identified that would benefit from prenatal treatment, delivery at a different centre, or highlight that the baby may die shortly after birth. In countries where the law permits termination of pregnancy it can give the opportunity to choose not to continue the pregnancy. This article describes the Fetal Anomaly Screening Programme (FASP) in the UK and describes a systematic approach for scanning for fetal anomalies in the first and second trimester. [ABSTRACT FROM AUTHOR]

Fetal lymphangioma is a rare congenital malformation of lymphatic system that involve the skin and the subcutaneous tissue. The vast majority of the lymphangioma occurs in the neck. More rarely lymphangiomas may occur in the axillary region, including chest wall. Our consecutive case series study included three cases of fetal chest wall cystic lymphangiomas. In our cohort, fetal chest wall cystic lymphangiomas were the 18.8% of the all cases of lymphangiomas of axillary region. In all the three cases no other fetal abnormalities were evaluated, and the chest wall cystic lymphangiomas were unilateral, honeycombed in appearance, with multiple echo-free area of varying size in the mass, with no color flow on Doppler sonography, and with a trend to increase during the gestation. The incidence of chromosomal abnormalities was 33.3%, with one case out of the three being trisomy 21.The literature review revealed only seven cases of fetal chest wall cystic lymphangiomas. The cases were not associated with other abnormalities, nor with abnormal karyotype and only one case of fetal death was reported. Three women delivered vaginally. In summary, fetal chest wall cystic lymphangioma is a very rare malformations with only seven cases reported in the literature. This malformation is usually not associated with abnormal karyotype or other abnormalities and the neonatal outcome is favorable after surgical removal. Spontaneous vaginal delivery may be a safe approach for delivery women with fetal chest wall cystic lymphangioma. CONDENSATION: Fetal chest wall cystic lymphangioma is a very rare malformations with only seven cases reported in the literature. This malformation is usually not associated with abnormal karyotype or other abnormalities and the neonatal outcome is favorable after surgical removal. Spontaneous vaginal delivery may be a safe approach for delivery women with fetal chest wall cystic lymphangioma. [ABSTRACT FROM AUTHOR]

Advances in prenatal genomics have enabled the assessment of not only the sub-microscopic structure of chromosomes using chromosomal microarray analysis, but also the detection of "pathogenic variants" to the resolution of a single base pair with the use of next generation sequencing. Research is emerging on the additional prenatal diagnostic yield that exome sequencing offers when structural fetal anomalies are detected on ultrasound examination, in particular the identification of monogenic abnormalities defining prognosis and recurrence of anomalies. Primarily assessed using fetal DNA obtained by invasive techniques (amniocytes or chorionic villi), this technology is progressing into a non-invasive approach using maternal plasma. There are several challenges, to be addressed before this technology can be introduced into routine clinical practice. These are primarily technical and interpretational but also relate to service provision; cost-effectiveness; turn-around time; patient acceptability and ethical dilemmas. With adequate pre- and post-test counselling many of these challenges may be overcome and such counselling has to be multi-disciplinary, involving clinical geneticists, genetic scientists, paediatricians, perinatal pathologists and fetal medicine subspecialists. There is therefore a need for obstetricians to have an understanding of the clinical utility, application, advantages and challenges of such technologies before introduction into routine clinical practice. [ABSTRACT FROM AUTHOR]

Congenital anomalies of the kidneys and the urinary tract (CAKUT) are one of the most common sonographically identified antenatal malformations. Dilatation of the renal pelvis accounts for the majority of cases, but this is usually mild rather than an indicator of obstructive uropathy. Other conditions such as small through large hyperechogenic and/or cystic kidneys present a significant diagnostic dilemma on routine scanning. Accurate diagnosis and prediction of prognosis is often not possible without a positive family history, although maintenance of adequate amniotic fluid is usually a good sign. Both pre- and postnatal genetic screening is possible for multiple known CAKUT genes but less than a fifth of non-syndromic sporadic cases have detectable monogenic mutations with current technology. In utero management options are limited, with little evidence of benefit from shunting of obstructed systems or installation of artificial amniotic fluid. Often outcome hinges on associated cardiac, neurological or other abnormalities, particularly in syndromic cases. Hence, management centres on a careful assessment of all anomalies and planning for postnatal care. Early delivery is rarely indicated since this exposes the baby to the risks of prematurity in addition to their underlying CAKUT. Parents value discussions with a multidisciplinary team including fetal medicine and paediatric nephrology or urology, with neonatologists to plan perinatal care and clinical geneticists for future risks of CAKUT. [ABSTRACT FROM AUTHOR]

We sought to evaluate the diagnostic value of foetal magnetic resonance imaging (MRI) for multicystic dysplastic kidney (MCDK) disease. We retrospectively identified 55 foetuses with MCDK diagnosed (51 unilateral; 4 bilateral) by foetal MRI. We analysed the anatomical findings by prenatal MRI and compared them with the prenatal ultrasound (US) and postnatal findings. Additional diagnostic information added by MRI was recorded. The gestational age of the 55 foetuses ranged from 22 to 35 weeks (mean, 26.5 ± 3.6 weeks). The age of the pregnant women ranged from 23 to 40 years (mean, 31 ± 4.2 years). All 55 cases were performed at 1.5 T magnetic resonance unit. MRI sequences, including steady-state free precession (SSFP), single-shot fast spin echo (SSFSE), T1-weighted imaging (T1WI), and diffusion weighted imaging (DWI) sequences. Follow-up was obtained for 53 cases (2 cases of autopsy, 51 cases of postnatal imaging or surgery confirmed). Among the 51 unilateral cases, 16 cases were associated with other urinary tract anomalies, 3 cases with extra-renal anomalies, and the remaining 32 cases without associated anomalies. 2 of 16 cases with contralateral renal agenesis were with oligohydramnios and pulmonary hypoplasia. 2 of 4 bilateral MCDK presented with oligohydramnios and pulmonary hypoplasia. 52 of 53 cases were correctly diagnosed by MRI compared with the final diagnoses; 40 of 53 (75.5%) cases were correctly diagnosed by prenatal ultrasound. Both prenatal ultrasound and MRI failed to correctly diagnose one case bilateral MCDK, and MRI correctly changed the ultrasound diagnosis in 12 cases. Foetal MRI can add additional diagnostic information to prenatal US in the assessment of MCDK, even change the prenatal counselling and decisions. [ABSTRACT FROM AUTHOR]

The objective of this study was to review literature about the correlation between fetal autopsy and ultrasound findings of fetal malformations. Search in PubMed, Medline, EMBASE, Clinicl trials.org, reference list was performed. Inclusion criteria for studies selection were: fetal autopsy performed after termination of pregnancy (TOP) or stillbirth, TOP for fetal anomalies, prenatal diagnosis of malformations, data reported as proportional rates.Exclusion Criteria: case reports, non English language, data reported in graphs or percentage. From each article: sample size, type of malformation, indication for TOP, autopsy findings. Fetal anomalies were grouped in central nervous system (CNS), genitourinary (GU), congenital heart defects (CHD), gastrointestinal (GI), thorax, limbs, skeleton, genetics (TOP for abnormal karyotype), multiples (TOP for multiple severe malformations for which a single indication for TOP/stillbirth could not be identified). Correspondence between autopsy and ultrasound was defined as agreement (same diagnosis), additional (additional findings undetected by ultrasound), unconfirmed (false positive and false negative ultrasound). PRISMA guidelines were followed. From 19 articles, 3534 fetuses underwent autopsy, which confirmed prenatal ultrasound in 2401 (68.0%) fetuses, provided additional information in 794 (22.5%) fetuses, and unconfirmed prenatal ultrasound in 329 (9.2%) fetuses. The latter group consisted of 3.2% false positive and 2.8% false negative cases. The additional findings changed the final diagnosis in 3.8% of cases. The most frequent indication for TOP/stillbirth was CNS anomalies (36.3%), whereas thorax anomalies represented the less frequent indication (1.7%). The highest agreement between autopsy and prenatal ultrasound was observed in CNS (79.4%) and genetics (79.2%), followed by GU anomalies (76.6%), skeleton (76.6%), CHD (75.5%), thorax (69.7%); GI (62.6%), multiple (37.0%), limbs (23.3%). In spite of the high agreement between prenatal ultrasound and autopsy, fetal examination is mandatory because in a minority of cases it discloses additional findings or changes the final diagnosis and genetic counselling. [ABSTRACT FROM AUTHOR]

Objective: Non-invasive prenatal testing (NIPT) is increasingly being used in prenatal aneuploidy screening. The objective of this study was to assess the positive predictive value in our cohort of 68 cases with positive NIPT result. In addition, we wondered if the use of NIPT in cases with ultrasound abnormalities is appropriate, given the limited number of chromosomes investigated.Design: We performed confirmative invasive testing using karyotyping, fluorescence in situ hybridization (FISH) and/or high-resolution chromosomal microarray analysis.Results: In line with the published data, the positive NIPT result was confirmed in 64.7% of cases. Inconclusive and negative NIPT results followed by cytogenetically pathologic findings were encountered in three and in five cases, respectively. Four of the five fetuses with negative NIPT but pathologic cytogenetic findings were born with several malformations and diagnosed right after birth with severe genetic conditions. Of note, in all of those four cases, NIPT was offered despite the finding of major fetal ultrasound abnormalities and despite the fact that the family would not have opposed invasive testing or pregnancy termination.Conclusion: More education of health care providers and caution in counseling and interpretation of test results are needed in order to meet the challenges that this new test, which enriches our diagnostic options in prenatal testing, poses. [ABSTRACT FROM AUTHOR]

Abstract: The purpose of this study is to compare the accuracy of prenatal ultrasound (US) and prenatal magnetic resonance imaging (MRI) in the diagnosis and characterization of congenital abnormalities of the genito-urinary tract and to determine if the additional information obtained by MRI may influence the management of the fetus. We retrospectively evaluate 15 cases of congenital genito-urinary tract anomalies detected by prenatal US and with echographic inconclusive diagnosis. We compare the MRI findings with the US findings and the final diagnosis, obtained from neonatal outcomes, imaging studies and pathology records. Fetal US diagnosis was correct in 9 cases (60%) and MRI in 13 cases (86.7%). Prenatal MRI revealed additional information to US in 9 cases (60%), which modified the initial US diagnosis in 5 cases (33.3%) and changed the therapeutic approach in 5 fetuses (33.3%). Fetal MRI was better than US in cases of oligoamnios and in fetuses with genito-urinary pathology concerning the pelvic and perineum region. We believe that MRI should be considered as a complementary diagnostic method in cases of echographic suspicion of congenital pathology of the genito-urinary tract and inconclusive prenatal US. [Copyright &y& Elsevier]

Background: Soft markers are nonspecific findings detected by ultrasonography during the second trimester that are often transient and nonpathologic but may imply an increased risk of underlying fetal aneuploidy. However, large-scale prospectively stratified studies focusing on the prevalence of chromosomal aberrations, including copy number variants, in fetuses with different types of isolated soft markers have rarely been published in the literature.Objective: This study aimed to investigate clinical outcomes in fetuses with isolated soft markers by single nucleotide polymorphism array with long-term follow-up and to propose a diagnostic algorithm based on specific types of soft markers.Study Design: The prevalence of fetal isolated soft markers was 13.2% (7869 of 59,503). A total of 2466 fetuses with ultrasonographic soft markers during the second trimester, which were subjected to single nucleotide polymorphism array with long-term follow-up, were selected in this prospective study over a 5-year period. Soft markers were categorized into 12 groups. The demographic profile and chromosomal microarray analysis detection results were analyzed and compared among different groups.Results: The overall prevalence of chromosomal aberrations in fetuses with soft markers was 4.3% (107 of 2466), which comprised 40.2% with numeric chromosomal abnormalities, 48.6% with pathogenic copy number variants, and 11.2% with likely pathogenic copy number variants. The incidence of numeric chromosomal abnormalities was significantly higher in multiple soft markers (5.5% vs 1.5%; P=.001) and the thickened nuchal fold group (8.3% vs 1.7%; P=.024). Meanwhile, the incidence of pathogenic copy number variants was significantly higher in multiple soft markers (5.5% vs 2.4%; P=.046) and the short femur length group (6.6% vs 2.2%; P<.0001). The incidences of pathogenic copy number variants in fetuses with isolated echogenic intracardiac focus, enlarged cisterna magna, choroid plexus cysts, echogenic bowel, or single umbilical artery were lower than 1.5%. The normal infant rate in fetuses without chromosomal aberrations was 91.7%; however, it was significantly lower in the mild ventriculomegaly (86.2% vs 93.0%; P<.0001) and short femur length groups (71.4% vs 93.6%; P<.0001).Conclusion: The potential chromosomal aberrations and clinical prognoses varied widely among different types of isolated soft markers. Pathogenic copy number variants are more often present in specific soft markers, especially when multiple soft markers are found. Thus, a specific soft marker type-based prenatal genetic testing algorithm was proposed. [ABSTRACT FROM AUTHOR]

Abstract: Objective: Fetal tumors can have a devastating effect on the fetus, and may occur in association with congenital malformations. In view of the increasing role of fetal magnetic resonance imaging (MRI) as an adjunct to prenatal ultrasonography (US), we sought to demonstrate the visualization of fetal tumors, with regard to congenital abnormalities, on MRI. Materials and methods: This retrospective study included 18 fetuses with tumors depicted on fetal MRI after suspicious US findings. An MRI standard protocol was used to diagnose tumors judged as benign or malignant. All organ systems were assessed for tumor-related complications and other congenital malformations. Available US results and histopathology were compared with MRI. Results: There were 13/18 (72.2%) benign and 5/18 (27.8%) malignant tumors diagnosed: a cerebral primitive neuroectodermal tumor in 1/18, head–neck teratomas in 4/18; ventricular rhabdomyomas in 4/18; a cardiac teratoma in 1/18; a hepatoblastoma in 1/18; neuroblastomas in 2/18; a cystic hemorrhagic adrenal hyperplasia in 1/18; a pelvic leiomyoma in 1/18; sacrococcygeal teratomas in 3/18. Tumor-related complications were present in 13/18 (72.2%) cases; other congenital abnormalities in 3/18 (16.7%). MRI diagnosis and histology were concordant in 8/11 (72.7%) cases. In 6/12 (50%) cases, US and MRI diagnoses were concordant, and, in 6/12 (50%) cases, additional MRI findings changed the US diagnosis. Conclusion: Our MRI results demonstrate the visualization of fetal tumors, with frequently encountered tumor-related complications, and other exceptional congenital abnormalities, which may provide important information for perinatal management. Compared to prenatal US, MRI may add important findings in certain cases. [Copyright &y& Elsevier]