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To present the prenatal features and postnatal outcomes of pregnancies with fetal nemaline myopathy (NM). This was a retrospective study of nine cases with NM diagnosed by prenatal or postnatal clinical features and confirmed by genetic testing. Clinical and laboratory data were collected and reviewed for these cases, including maternal demographics, prenatal sonographic findings, exome sequencing (ES) results, and pregnancy outcomes. All of the nine cases were detected to have NM-causing variants, involving NEB gene in 2 cases, ACTA1 in 3 cases, KLHL40 in 3 cases, and TPM2 in 1 case. Almost all (8/9) had normal first-trimester ultrasound scans except one who had an increased nuchal translucency. Seven (7/9) cases had second-trimester abnormal ultrasounds with fetal akinesia and/or extremity anomalies. Two (2/9) had only third-trimester abnormal ultrasounds with fetal akinesia and polyhydramnios, with one combined with fetal growth restriction. Four pregnancies with a positive prenatal ES were terminated, while five having not receiving prenatal ES continued to term. Only one infant survived 1 year old, and four passed away within 12 months. Prenatal ultrasound can detect clues that lead to the diagnosis of NM, such as reduced or absent fetal movements, polyhydramnios and extremity anomalies. [ABSTRACT FROM AUTHOR]

• Prenatal ultrasound-based diagnosis of epidermolysis bullosa is difficult, but not impossible. Several sonographic signs, even if nonspecific, are more frequently reported in the few cases described in literature to date. • The prenatal ultrasound confirms a good level of accuracy in assessing fetuses with suspicion of epidermolysis bullosa. • This paper suggests for future investigations to carefully evaluate the muco-cutaneus areas, including the perioral area. The fetal mobility and the 3D ultrasound should be part if the examination. This is the first systematic review specifically focused on prenatal ultrasound signs of EB. Epidermolysis bullosa is a rare hereditary autosomal disease that is included in the heterogeneous group of genodermatosis. It is characterized by skin and mucous membranes fragility and denudation, and it can be associated with pyloric atresia. Prognosis is often poor, and death can occur in neonatal period due to severe sepsis. We present a case of fetal junctional epidermolysis bullosa in a consanguineous couple, highly suggested by previous obstetric history and several antenatal ultrasound signs, such as polyhydramnios, gastric enlargment, the "snowflake sign", abnormal external ears, signs of skin desquamation, lower limbs anomalies and chorioamniotic membrane separation. We describe a marked perioral hipoecogenicity as a novel sign of skin-mucous denudation, which could be helpful for future diagnosis. A review of literature, focused specifically on the antenatal sonography role, is also reported. Prenatal ultrasound-based diagnosis of epidermolysis bullosa is difficult, especially in apparently low risk contexts, but may be possible. [ABSTRACT FROM AUTHOR]

Objective: To determine the fetal ultrasound findings associated with Sotos syndrome caused by deletions at 5q35 including the NSD1 and a point mutation in this gene.Study Design: This was a retrospective study of eight pregnancies with fetal Sotos syndrome identified by chromosomal microarray (CMA)/whole exome sequencing (WES). Clinical and laboratory data were collected and reviewed for these cases.Results: Two cases had no significant fetal abnormalities, and were only diagnosed after birth. One case presented in the first trimester with increased nuchal translucency. The remaining five fetuses were identified at late gestation. One of the five fetuses presented in the second trimester with mild ventriculomegaly, and four in the third trimester with mild ventriculomegaly, macrocephaly and polyhydramnios. CMA was done on all cases and revealed 5q35 deletions in seven cases, and WES detected a maternally inherited NSD1 variant in one case.Conclusion: The fetal ultrasound findings in cases with Sotos syndrome, associated with deletions at 5q35 and a point mutation in the NSD1 are not specific with the most common finding being mild ventriculomegaly. [ABSTRACT FROM AUTHOR]

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]

Objective: To evaluate the prognosis of fetuses with a prenatal diagnosis of micrognathia in the first trimester.Study Design: Over a 3-year period, patients with fetal micrognathia were detected at the time of nuchal translucency screening. The medical records of these pregnancies were reviewed, including maternal demographics, sonographic findings, genetic testing results and pregnancy outcomes.Results: Forty-three cases of first-trimester micrognathia were included in this study. Chromosomal abnormalities were detected in seven cases. Of the fetuses with a normal array, further investigation of monogenic disorders with whole-exome sequencing was undertaken in 13 cases. Monogenic syndromes were identified in eight cases, including six with de-novo dominant alleles and two with recessive conditions. Whole-exome sequencing was refused in 23 cases; among these, other additional anomalies were found on anatomic ultrasound in 10 cases.Conclusion: This study demonstrated that caution should be adopted when finding an apparently isolated micrognathia in early gestation, even with a normal array. A diagnosis of genetic syndrome or multiple anomalies on subsequent scans is most likely, and will affect the final prognosis. [ABSTRACT FROM AUTHOR]

Introduction: Alongside initial screening obstetric US, use of placental MRI has been increasing in the last few decades to aid with antenatal diagnosis and delivery planning in Placenta Accreta Spectrum (PAS). The aim of this study was to determine if the MRI pathophysiological sign subcategories described in the current literature can predict the severity of pathologic diagnosis.Methods: Institutional imaging records were reviewed for placental MRIs performed for suspicion of PAS in the last decade. Electronic health records were searched for patient history and pathology. The 59 MRI studies were reviewed using the 11 MRI signs described by the SAR and ESUR joint consensus statement. Further breakdown of the signs was divided by underlying pathophysiologic subcategories including gross morphologic, interface and tissue architecture signs.Results: Pathologic diagnosis yielded 34 cases: accreta 4/34, incerta 14/34, percreta 10/34 and normal 6/34. Of the accreta cases all of them demonstrated at least two interface and half of the cases had tissue architecture signs, 13/14 increta cases demonstrated interface signs and 12/14 demonstrated tissue architecture signs, 9/10 percreta cases had two interface and at least six demonstrated three tissue architecture signs. Statistical analysis showed significant difference between pathologic diagnosis and the number of positive interface signs with p = 0.02.Discussion: Interface signs were the most objective and sensitive MRI subcategory. Statistical analysis determined there was a significant difference between PAS diagnosis and number of interface signs present. This subcategory has the most overlap with classic US signs which are traditionally used before MRI referral. [ABSTRACT FROM AUTHOR]

We present a case of hypochondrogenesis, a rare autosomal dominant skeletal dysplasia that often results in infant death shortly after birth. Hypochondrogenesis can present similarly to other skeletal dysplasia diseases, notably achondrogenesis type II. The diagnosis of hypochondrogenesis was given during the prenatal stage after fetal imaging was performed using ultrasound, magnetic resonance imaging (MRI), and low-dose computerized tomography (CT). To the best of our knowledge, this is the first known case that reported the use of low-dose CT to assist in the prenatal diagnosis of hypochondrogenesis. • Hypochondrogenesis is a lethal skeletal dysplasia with less than 100 known cases. • Fetal imaging can differentiate hypochondrogenesis from achondrogenesis type II. • Low-dose CT revealed distinguishing defects not seen on ultrasound or MRI. [ABSTRACT FROM AUTHOR]

Objective: To assess the diagnostic accuracy of prenatal ultrasound for detecting fetal skeletal dysplasias and to describe its role in orienting genetic studies.Study Design: Observational study of pregnant women surveyed in our hospital, between 2011 and 2018, with fetal long bones below the 3rd centile (shortened long bones), either as an isolated finding or associated to other skeletal anomalies. We used a systematic protocol for the ultrasound evaluation and selection of those fetuses suspected of having a skeletal dysplasia. We report the demographics of these patients along with the sonographic follow-up of their fetuses, the genetic results and the outcome of the pregnancies and the newborn in the entire group and also compare data between the two sub-groups (isolated shortened long bones vs shortened long bones associated to other anomalies).Results: A total of 81 pregnancies with a suspected fetal skeletal dysplasia were included, with a complete follow-up available in 75 cases, 22 with isolated shortened long bones and 53 cases that presented shortened long bones with other skeletal anomalies. In the shortened long bones sub-group, a total of five (23 %) were born healthy neonates, 10 (45 %) were small for gestational age or intrauterine growth restricted (one of them of genetic origin) and seven (32 %) had a skeletal dysplasia (6 of them with genetic diagnosis). Whilst among the 53 cases that presented with shortened long bones + other skeletal anomalies, three (6%) were healthy neonates, five (9%) were small for gestational age/intrauterine growth restricted (two of genetic origin) and 45 (85 %) had a skeletal dysplasia (19 genetically confirmed and 26 with a clinical diagnosis). These differences in frequencies between the two sub-groups were determined to be statistically significant (χ2: p = 0.02).Conclusion: Around one third of fetuses with isolated shortened long bones will have a skeletal dysplasia. If abnormal skeletal ultrasound findings are associated with shortened long bones, the risk for skeletal dysplasia is significantly increased (85 %). Prenatal systematic approach in a multidisciplinary unit is useful in the orientation of genetic studies. [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]

Objective: To compare diagnoses in patients undergoing abortion for fetal indications at 15-0/7 to 21-6/7 vs. ≥22-0/7 weeks' gestation.Study Design: This retrospective cohort study included women undergoing abortion at ≥15-0/7 weeks' gestation for fetal indications from 2012 to 2018 at our institution. We compared indications (genetic vs. structural only) between groups by gestational age (15-0/7 to 21-6/7 vs. ≥22-0/7 weeks). We performed statistical analysis using Fisher's exact and Mann-Whitney U tests.Results: The 158 women identified included 97 (61.4%) at 15-0/7 to 21-6/7 and 61 (38.6%) at ≥22-0/7 weeks' gestation. Women at an earlier gestational age more commonly had an initial diagnosis of a genetic disorder (41 [42.3%)] vs.10 [16.4%], respectively, p < .001). In 69 cases with initial or subsequent diagnosis of a genetic disorder, there were differences in the types of genetic abnormalities, with common chromosomal abnormalities (including Trisomies 13, 18, and 21) the most frequent diagnosis in those who underwent abortion at 15-0/7 to 21-6/7 weeks and microarray abnormalities more common at ≥22-0/7 weeks (22 [44.9%] vs. 4 [18.2%]) and 7 [14.9%] vs. 11 [50.0%], respectively, p = .01). Routine ultrasonography for fetal anomaly surveillance occurred one week earlier in women undergoing abortion for structural anomalies at 15-0/7 to 21-6/7weeks (median 19-2/7 weeks [interquartile range (IQR) 19 0/7 to 19-5/7 weeks]) compared to ≥22-0/7 weeks (median 20-2/7 weeks [IQR 19 6/7 to 20 4/7 weeks]), p < .001.Conclusion: Abortions for genetic indications are performed earlier in gestation compared to those performed for structural abnormalities. Timing of fetal anatomy ultrasound examination correlated with gestational age at abortion for structural abnormalities.Implications: Many states impose gestational-age based abortion bans, with 20-weeks post-fertilization the most common. However, we may not identify fetal abnormalities until close to 22 weeks gestation (20-weeks post-fertilization). Optimizing timing of prenatal diagnosis might mitigate the impact of gestational-age based abortion bans. [ABSTRACT FROM AUTHOR]

Background: Biliary atresia is a progressive disease presenting with jaundice, and is the most common indication for liver transplantation in the pediatric population. Prenatal series have yielded conflicting results concerning a possible association between BA and prenatal nonvisualization of the gallbladder.Aims: This retrospective case series was performed to assess the association between biliary atresia, prenatal nonvisualization of the gallbladder and other sonographic signs.Study Design/subjects: We identified biliary atresia patients who underwent a Kasai procedure by a single pediatric surgeon and/or follow up by a single pediatric gastroenterologist. Axial plane images and/or video recordings were scrutinized for sonographic signs of biliary atresia on the second trimester anomaly scan.Outcome Measures: Proportion of biliary atresia cases with prenatal sonographic signs.Results: Twenty five charts of children with biliary and high quality prenatal images were retrieved. 6/25 (24%) of cases analyzed had prenatal nonvisualization of the gallbladder or a small gallbladder on the prenatal scan. Two cases had biliary atresia splenic malformation syndrome. None of the cases had additional sonographic markers of biliary atresia.Conclusions: Our study suggests that in addition to the well-established embryonic and cystic forms, an additional type can be suspected prenatally, which is characterized by prenatal nonvisualization of the gallbladder in the second trimester. This provides additional evidence that some cases of BA are of fetal rather than perinatal onset and may have important implications for prenatal diagnosis, for counseling and for research of the disease's etiology and pathophysiology. [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: To present the experience on prenatal diagnosis of Wolf-Hirschhorn syndrome (WHS) to further delineate the fetal presentation of this syndrome.Study Design: This was a retrospective analysis of ten pregnancies with fetal WHS identified by chromosomal microarray (CMA). Clinical data were reviewed for these cases, including maternal demographics, indications for invasive testing, sonographic findings, CMA results and pregnancy outcomes.Results: Three cases were diagnosed at the first trimester because of an increased NT or cystic hygroma. The remaining seven cases were identified at late gestation for abnormal ultrasound findings. CMA revealed 4p deletions to be terminal in all of the ten cases. Deletion sizes ranged from 2.05 to 19.02 Mb.Conclusion: Prenatal findings such as increased NT, severe and early onset intrauterine growth retardation, and renal dysplasia or oligohydramnios should warrant the diagnosis of WHS and invasive testing using CMA. [ABSTRACT FROM AUTHOR]

Abstract: Sonographic assessment of fetal nuchal translucency (NT) thickness is the cornerstone of screening for chromosomal abnormality at 11–13+6 weeks gestation. This marker was first recognized in pregnancies being karyotyped for advanced maternal age, but its underlying pathophysiology remains to be fully determined. Although increased NT is clearly associated with changes in both lymphatic and cardiac development, neither is an obvious causative agent. The association with cardiac defects has now being subjected to a significant amount of research, with a large body of evidence showing that this marker is also a screening tool for major cardiac defects — although it performs more modestly than for chromosomal abnormality. The field continues to change rapidly. Recent evidence that uses a combination of increased NT, tricuspid regurgitation and abnormal flow in the ‘a’ wave of the ductus venosus can provide an effective screening strategy to predict many major cardiac defects at this early stage of pregnancy. [Copyright &y& Elsevier]

The exploration of the foetal digestive tract is not systematized and the ends (thoracic oesophagus and anorectal area) are often excluded from the examination excluded from screening. Only the foetal digestive pathology of liquid expression (digestive obstruction, digestive duplication) is easily detected. The most frequent digestive pathologies (oesophagus atresia, anorectal malformation) are still very often a neonatal discovery. With echography or MRI, the antenatal analysis of the digestive tract is optimized by the acquisition of coronal (thoracic oesophagus, small intestine, and colon) and sagittal median cuts (rectal reference mark, sacral concavity). The interpretation of the echosignal of the contents of the digestive tract (liquid or meconial) takes into account the transition periods responsible for the physiological modifications in charge of the modification of images (24–26 WA and 29–30 WA). [Copyright &y& Elsevier]

Dicephalus twinning is an extremely rare type of conjoined twins. Early prenatal diagnosis of this condition is important to provide an opportunity for pregnancy termination. We present such a case, which was diagnosed by ultrasound examination at 12 weeks of gestation. The ultrasonographic criteria are discussed together with implications for management. [ABSTRACT FROM AUTHOR]

The objectives of this study were to evaluate routine prenatal diagnosis of congenital heart diseases (CHD) by fetal ultrasound examination in a well-defined population during the period 1994–1999 and to compare these results with the results from 1979 to 1993. This study included 80 076 consecutive pregnancies of known ouome from 1994 to 1999. CHD were classified as isolated or associated when at least one other major extra-cardiac malformation was present. Only 137 out of 688 malformed fetuses with CHD without chromosomal anomalies were detected (19.9%). The sensitivity of detection varied from 61.9% for malformations such as isolated hypoplastic left heart and single ventricle, to around 7–19% for atrial and ventricular septal defects. Prenatal detection rate of CHD was 11.4% for isolated cases, and 40.2% for multiple malformed with CHD. The gestational age at discovery varied from 16 to 36 weeks. There is no upper limit for termination of pregnancies in our country; 12.3% of all pregnancies were terminated after prenatal diagnosis. However, 62% of the pregnancies with a CHD detected prenatally were terminated. The detection rate of CHD increased during time from 9.2% during the period 1979–1988 to 13.7% during the period 1990–1993 and to 19.1% during the period 1994–1999. Our study shows large variation in the prenatal detection rate of CHD. Prenatal diagnosis of CHD is significantly higher when associated malformations are present. Cardiac defects affecting the size of the ventricles have the highest detection rate. Gestational age at discovery was 20–24 weeks for the majority of associated cardiac defects. The prenatal detection rate of CHD increased during time from 1979 to 1999. [Copyright &y& Elsevier]