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• The prevalence of prenatal ectopic kidney is quite low. • The most common locations of ectopic kidneys are the iliac fossa and lateral pelvic areas, respectively. • In ectopic kidney cases, both kidneys are equally affected in both genders. • Blood supply to ectopic kidneys is most commonly provided by the iliac artery and then the aorta. • The most common extraurinary anomalies accompanying prenatally diagnosed ectopic kidney are cardiac anomalies. To assess the characteristics, additional structural anomalies and postnatal urinary outcome of the cases diagnosed with fetal ectopic kidneys in the prenatal period. Cases having fetal ectopic kidneys, detected from a total of 14,617 pregnant women examined by routine detailed (Group 1) or indicated (Group 2) obstetric ultrasonography (USG) in a tertiary perinatology unit were analyzed. The prevalence of the cases, time of the diagnosis, sidedness of the affected kidney, anatomical location, origins of blood supply, additional urinary or extraurinary anomalies, and urinary complications during the postnatal follow-up period were investigated. We have detected 33 fetuses with ectopic kidneys in our cohort. The prevalence of fetal ectopic kidney was 0.22 %, with a median (min.-max.) diagnosis time of 21.3 (17.6–34) weeks. In the group in whom indicated USG was performed, the time of diagnosis was later compared to routine detailed USG (p = 0.04) group. There was no difference in terms of gender [male, (n = 14), female (n = 19), p = 0.38] and the sidedness of the ectopic kidneys (p = 0.38). The location of ectopic kidneys was most frequent in the iliac fossa (n = 20, 60.6 %) and in the lateral pelvic areas (n = 13, 39.3 %). The blood supply origin of ectopic kidneys was the common iliac artery in 22 (66.6 %), whereas the aorta in 11 cases (33.3 %). There was an additional urinary anomaly in 8 cases (24 %), an extraurinary structural anomaly, most commonly cardiac, and/or a soft marker for aneuploidy were presented in 16 cases (48 %). The most common urinary complication in the postpartum period was vesicoureteral reflux (n = 5). Ectopic kidney in the prenatal period is a rare structural anomaly that can equally affect both genders and both kidneys. Prenatal diagnosis is important for the diagnosis of additional anomalies and follow-up of postnatal complications. [ABSTRACT FROM AUTHOR]

To analyze the risk for genetic aberrations and pregnancy outcomes in pregnancies with isolated polyhydramnios. This was a retrospective study of singleton pregnancies complicated by isolated polyhydramnios that underwent genetic amniocentesis between 2016 and 2021. Clinical and laboratory data were collected and reviewed for these cases, including maternal demographics, prenatal sonographic findings, chromosomal microarray results, and pregnancy outcomes. A total of 94 singleton pregnancies were included. Three (3.2%) cases with chromosomal abnormalities were detected, including 2 case of trisomy 21 and 1 of 22q21.1 microdeletion. One case was diagnosed as Prader-Willi syndrome caused by maternal uniparental disomy of chromosome 15. Perinatal death occurred in 1 case with severe polyhydramnios, and was retrospectively diagnosed as Bartter syndrome. Of the 90 infants survived, two were identified to have single gene disorders after birth by whole exome sequencing. We first attempted to determine the value of exome sequencing in pregnancies with isolated polyhydramnios. Our results warrant more studies to evaluate advanced genetic testing technologies used in such pregnancies. [ABSTRACT FROM AUTHOR]

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]

To present the fetal features of Cornelia de Lange Syndrome (CdLS) with a molecular confirmation. This was a retrospective study of 13 cases with CdLS diagnosed by prenatal and postnatal genetic testing and physical examination. Clinical and laboratory data were collected and reviewed for these cases, including maternal demographics, prenatal sonographic findings, chromosomal microarray and exome sequencing (ES) results, and pregnancy outcomes. All of the 13 cases were detected to have a CdLS-causing variant, with 8 variants identified in the NIPBL gene, 3 in SMC1A , and 2 in HDAC8. Five had normal ultrasound scans during pregnancy; all were caused by variants of SMC1A or HDAC8. For the eight cases with NIPBL variants, all had prenatal ultrasound markers. Three had first trimester ultrasound markers including increased nuchal translucency in one and limb defects in three. Four presented with normal ultrasound in the first trimester, but abnormal ultrasound in the second trimester, including micrognathia in two, hypospadias in one and intrauterine growth retardation (IUGR) in one. IUGR as the isolated feature was identified in one case in the third trimester. The prenatal diagnosis of CdLS caused by NIPBL variants is possible. It seems to remain challenging to detect non-classic CdLS only relying on ultrasound examination. [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]

The evolution of ultrasound and the introduction of 3- and 4-dimensional ultrasound techniques led to a shift in the perception and usage of ultrasound in fetal medicine. The biplane mode might help in multiple fetal procedures, including but not limited to basic intrauterine thoracocentesis, thoracoamniotic shunting, amnioreduction, amnioinfusion, cordocentesis, intraumbilical infusion, and umbilical cord coagulation, with a possible reduction in the complication rate. Despite its theoretical usefulness, more studies are required to assess the clinical importance of this technique. [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]

Soft markers were originally introduced to prenatal ultrasonography to improve the detection of trisomy 21 over that achievable with age-based and serum screening strategies. As prenatal genetic screening strategies have greatly evolved in the last 2 decades, the relative importance of soft markers has shifted. The purpose of this document is to discuss the recommended evaluation and management of isolated soft markers in the context of current maternal serum screening and cell-free DNA screening options. In this document, "isolated" is used to describe a soft marker that has been identified in the absence of any fetal structural anomaly, growth restriction, or additional soft marker following a detailed obstetrical ultrasound examination. In this document, "serum screening methods" refers to all maternal screening strategies, including first-trimester screen, integrated screen, sequential screen, contingent screen, or quad screen. The Society for Maternal-Fetal Medicine recommends the following approach to the evaluation and management of isolated soft markers: (1) we do not recommend diagnostic testing for aneuploidy solely for the evaluation of an isolated soft marker following a negative serum or cell-free DNA screening result (GRADE 1B); (2) for pregnant people with no previous aneuploidy screening and isolated echogenic intracardiac focus, echogenic bowel, urinary tract dilation, or shortened humerus, femur, or both, we recommend counseling to estimate the probability of trisomy 21 and a discussion of options for noninvasive aneuploidy screening with cell-free DNA or quad screen if cell-free DNA is unavailable or cost-prohibitive (GRADE 1B); (3) for pregnant people with no previous aneuploidy screening and isolated thickened nuchal fold or isolated absent or hypoplastic nasal bone, we recommend counseling to estimate the probability of trisomy 21 and a discussion of options for noninvasive aneuploidy screening through cell-free DNA or quad screen if cell-free DNA is unavailable or cost-prohibitive or diagnostic testing via amniocentesis, depending on clinical circumstances and patient preference (GRADE 1B); (4) for pregnant people with no previous aneuploidy screening and isolated choroid plexus cysts, we recommend counseling to estimate the probability of trisomy 18 and a discussion of options for noninvasive aneuploidy screening with cell-free DNA or quad screen if cell-free DNA is unavailable or cost-prohibitive (GRADE 1C); (5) for pregnant people with negative serum or cell-free DNA screening results and an isolated echogenic intracardiac focus, we recommend no further evaluation as this finding is a normal variant of no clinical importance with no indication for fetal echocardiography, follow-up ultrasound imaging, or postnatal evaluation (GRADE 1B); (6) for pregnant people with negative serum or cell-free DNA screening results and isolated fetal echogenic bowel, urinary tract dilation, or shortened humerus, femur, or both, we recommend no further aneuploidy evaluation (GRADE 1B); (7) for pregnant people with negative serum screening results and isolated thickened nuchal fold or absent or hypoplastic nasal bone, we recommend counseling to estimate the probability of trisomy 21 and discussion of options for no further aneuploidy evaluation, noninvasive aneuploidy screening through cell-free DNA, or diagnostic testing via amniocentesis, depending on clinical circumstances and patient preference (GRADE 1B); (8) for pregnant people with negative cell-free DNA screening results and isolated thickened nuchal fold or absent or hypoplastic nasal bone, we recommend no further aneuploidy evaluation (GRADE 1B); (9) for pregnant people with negative serum or cell-free DNA screening results and isolated choroid plexus cysts, we recommend no further aneuploidy evaluation, as this finding is a normal variant of no clinical importance with no indication for follow-up ultrasound imaging or postnatal evaluation (GRADE 1C); (10) for fetuses with isolated echogenic bowel, we recommend an evaluation for cystic fibrosis and fetal cytomegalovirus infection and a third-trimester ultrasound examination for reassessment and evaluation of growth (GRADE 1C); (11) for fetuses with an isolated single umbilical artery, we recommend no additional evaluation for aneuploidy, regardless of whether results of previous aneuploidy screening were low risk or testing was declined. We recommend a third-trimester ultrasound examination to evaluate growth and consideration of weekly antenatal fetal surveillance beginning at 36 0/7 weeks of gestation (GRADE 1C); (12) for fetuses with isolated urinary tract dilation A1, we recommend an ultrasound examination at ≥32 weeks of gestation to determine if postnatal pediatric urology or nephrology follow-up is needed. For fetuses with urinary tract dilation A2-3, we recommend an individualized follow-up ultrasound assessment with planned postnatal follow-up (GRADE 1C); (13) for fetuses with isolated shortened humerus, femur, or both, we recommend a third-trimester ultrasound examination for reassessment and evaluation of growth (GRADE 1C). [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]

Objective: To determine monogenic syndromes in cases of fetal akinesia in order to understand the genetic aetiology.Study Design: Clinical trio exome sequencing (ES) was performed on DNA extracted from postnatal samples in 12 cases with fetal akinesia identified by prenatal ultrasound and a normal chromosomal micro-array analysis result. This test targets coding exons for 4200 clinically relevant disease-causing genes. The interpretation of variants was performed according to the guidelines of the American College of Medical Genetics.Results: A definite molecular diagnosis was achieved in six (50 %) of the 12 cases using clinical trio ES. In five cases, the pathogenic variants were located in known fetal-akinesia-associated genes. In one case, the underlying pathogenic variants were in known disease genes that had not been linked to fetal akinesia previously. Six pregnancies were terminated by the parents, and six pregnancies were continued to term.Conclusion: Genetic defects leading to fetal akinesia were found in half of the study cases using clinical trio ES. This information will be useful in genetic counselling with regard to prognosis and risk of recurrence. [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]

The aim is to present a systematic review of all the published cases of prenatally diagnosed pericallosal lipomas, their features and associations with other anomalies or syndromes and their post-natal evolution. We performed a Pubmed-based systematic review, including all the published cases of prenatal diagnosis of pericallosal lipoma, written in English, Spanish or French. We analysed gestational age at diagnosis, prenatal ultrasound characteristics of the lipoma, prenatally diagnosed associated anomalies, neonatal findings, outcomes and duration of follow-up. We gathered data from 49 cases of prenatally diagnosed pericallosal lipoma. Mean gestational age at diagnosis was 29.6 weeks. The type of lipoma was: not specified in 8 cases, tubulonodular in 17 cases, curvilinear in 24 cases. Corpus callosum was hypoplastic in 19 cases of curvilinear lipomas (79.2%) and 3 cases of tubulonodular lipomas (17.6%) (p < 0.001). There was agenesis (partial or complete) of corpus callosum in 76.5% of the cases of tubulonodular lipoma and 8.3% of the cases of curvilinear lipoma (p < 0.001). There were three cases of Pai syndrome, and three cases of Goldenhar syndrome. Mean post-natal follow-up was 36.3 months. Neurological evaluation was normal in 92.1% of the cases (75% of the tubulonodular lipoma, 100% of the curvilinear lipoma, p < 0.05). Tubulonodular lipomas present a higher frequency of associated neurological anomalies. A thorough study of the lipoma and a search of associated anomalies is paramount. Parental counselling should take into account this classification and associated findings as the prognosis varies widely. Further studies with longer follow-up are necessary to increase our knowledge. • Hypoplastic corpus callosum is more frequent in the cases of curvilinear lipomas. • Agenesis of corpus callosum is more frequent in the cases of tubulonodular lipomas. • Neurological evaluation was normal in all the cases of curvilinear lipoma. • Neurological evaluation was normal in 75% of the cases of tubulonodular lipoma. • Neurological anomalies are more frequent in tubulonodular lipomas. [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 report the experience on the clinical use of noninvasive cell-free (cf) DNA testing at late pregnancy.Study Design: A cohort of 1539 women with singleton gestations of ≥23 weeks receiving cfDNA testing in a 3-year period were included for this study. Maternal characteristics and data on cfDNA testing, confirming diagnostic testing and pregnancy outcome were reviewed.Results: During the study period, 1539 patients had cfDNA testing although they had a normal first-trimester screening. Of these, 7 cases had a positive result, including 5 for chromosome 21, one for chromosome 18, and one for chromosome 13. The most common indication was soft markers on ultrasound, followed by polyhydramnios. Cytogenetic testing was done for the 5 trisomy 21 positive cases, and confirmed the cfDNA results. Confirmative testing was declined in the two cases with positive cfDNA for trisomy 18/13, and postnatal placental investigation showed confined placental mosaicism with normal karyotype in the cord blood of newborns. There were no confirmed false negatives reported. The cfDNA screening achieved a positive predictive value of 71.4 % and a negative predictive value of 100 % in late pregnancy for common trisomies.Conclusions: There is no gestational age upper limit for cfDNA use in the clinical practice. Most of the time, cfDNA was used in late gestation for reassurance in patients who is at low risk for aneuploidies but had second-trimester soft markers on ultrasound. [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]

Abstract Approximately 2% of all fetuses are affected with major congenital abnormalities. Ultrasound is currently the main tool for their prenatal detection. Since its introduction in the 1970s, major advances have taken place in prenatal detection of structural abnormalities. The focus is no longer search and destroy, but to allow wider options for the parents and clinicians. Special care at delivery may also be required in some conditions. Approximately half of all major structural abnormalities can now be detected in the first trimester, but there is wide variation depending on the system involved. Specific post-natal investigations and interventions are indicated, depending on the condition diagnosed. Newer advances in molecular genetics have led to an explosion of additional information that can be obtained before birth. This has also led to difficult ethical questions. [ABSTRACT FROM AUTHOR]

Abstract Aim We investigated the natural history of fetal ovarian cysts to estimate the risk of torsion according to size. Methods Cases were identified from 1/1/2000 until 1/1/2015. Data were collected pre- and postnatally on cyst size and sonographic features until an outcome of surgery, torsion, or resolution. Fisher's exact test for categorical data and logistic regression for continuous data were used to test the significance of size on torsion; P value < 0.05 was considered significant. Results 37 patients with unilateral ovarian cysts were included. 12 (32%) resolved spontaneously prenatally, 14 (38%) resolved spontaneously postnatally, 5 (14%) underwent surgery postnatally and 6 (16%) cases underwent torsion. Rate of torsion increased with size from 0% (n = 0) in cysts ≤ 20 mm to 33% (n = 2) in cysts > 50 mm; however, the overall trend failed to reach statistical significance (P = 0.1). Cysts of 0–40 mm had a significantly higher rate of spontaneous resolution (90% vs. 44% in > 40 mm, P = 0.003), but the rate of torsion was not significantly different (10% in 0–40 mm vs. 25% in > 40 mm, P = 0.26). The median time to postnatal resolution was 10 (5–27) weeks in those treated conservatively. Conclusion Cysts > 40 mm are significantly less likely to resolve spontaneously; however torsion showed no significant correlation with cyst size. No complications were observed in cysts < 20 mm. Level of Evidence IV, case series with no comparison group. [ABSTRACT FROM AUTHOR]

There is a growing research interest on the antenatal features of children with neurodevelopmental disorders. Indeed, it has been proved that the neurodevelopment is, at least partly, affected by processes occurring in fetal life and that the early neurodevelopmental disorders identification is essential to optimize long-term outcomes. This systematic review aims to summarize findings on antenatal ultrasound data, which are or might be considered early risk indexes of postnatal social impairments. We conducted systematic searches in Pubmed and PsychINFO databases to identify studies including fetal ultrasound measurements and postnatal neurodevelopmental outcome assessment. The bibliographic search included 3203 articles but after the assessment of the eligibility conducted by two independent researchers, only 26 studies were selected. Some alterations in ultrasound antenatal measurements (such as biophysical data, nuchal thickness and enlargement of cerebral ventricles) have been associated to autism spectrum disorder. However, data are still limited, controversial and not specific. Reported data are here discussed to strongly support studies on fetuses at high risk for autism spectrum disorder. [ABSTRACT FROM AUTHOR]

Fetal Medicine as a specialty has seen great advances over the past few decades. Advances in ultrasound and fetoscopy now allow access to the ‘fetal patient’ for both diagnostic and therapeutic procedures. While a number of fetal disorders may be amenable to fetal therapy – either direct or indirect – the evidence to support some treatment strategies is limited. Further developments in fetal therapy should aim to reduce maternal and child morbidity, wherever possible by less-invasive means, and with a firm evidence base to support their use. [ABSTRACT FROM AUTHOR]

Objective: The majority of complete hydatidiform moles (CHM) are detected on ultrasound examination by the end of the first trimester when they present as multiple sonolucent cysts. To better understand the pathophysiology of this unique placental pathology and improve its prenatal diagnosis and management we have reviewed the ultrasound features of CHM before the appearance of cystic changes.Study Design: We searched our database to identify all women diagnosed with a complete hydatidiform mole confirmed by histopathology who had an ultrasound examination before 9 weeks' gestation. We reviewed their ultrasound reports and all the corresponding images.Results: The study group included 39 women with a positive pregnancy test and vaginal bleeding, 36 of whom had at least two ultrasound examinations before 9 weeks' gestation. At the first scan (mean gestation age 7 + 1 weeks; SD 1.1), 29 out 39 (74.4%) of CHM presented as a heterogeneous hyperechogenic mass with or without gestational sac and the remaining ten (25.6%) cases as a regular 4-week gestational sac. Cystic molar changes became apparent from the end of the second month of gestation.Conclusion: The development of a CHM follows a well-defined pattern starting with a macroscopically normal gestation sac at 4 weeks, which transforms into a polypoid mass between 5 and 7 weeks of gestation. The hydropic changes of the villous tissue is progressive and rarely visible in utero on ultrasound before 8 weeks of gestation. These findings should allow an earlier diagnosis and assist in the management counselling of women with CHM. [ABSTRACT FROM AUTHOR]

Purpose: To determine the role of ultrasound imaging in evaluating fetal kidney growth.Methods: MEDLINE, CINAHL and EMBASE databases were electronically searched for studies between 1996 and January 2017 and limited to English language. Studies were included if they reported on an ultrasound technique to assess fetal kidney growth and they were not a case report or case series. There was independent selection of studies by two reviewers in consensus with one other reviewer. Data were extracted by one reviewer in consensus with two other reviewers.Results: A total of 1785 articles were identified. The full text of 39 of these were assessed for eligibility for inclusion. Twenty-eight studies were then included in the review. Standard two dimensional (2D) fetal renal measurements are easy to perform, however, this review identified that most studies had some methodological limitations. The disadvantage with 2D and three dimensional (3D) fetal renal volumes are that they include the entire kidney and good reproducibility of 3D volumes has not yet been demonstrated. Currently there is limited research on fetal kidney growth in the setting of abnormal fetal growth. Research focussing directly on fetal kidney parenchyma and blood flow is scarce.Conclusions: Some nomograms of 2D and 3D fetal kidney size and volume have been developed. Kidney length is the most popular single fetal kidney measurement; however, it does not seem to be a good indicator of growth. In IUGR fetuses, kidney length remained similar to appropriately grown fetuses whereas AP and TS dimensions were significantly decreased. New ultrasound techniques focusing on the parenchyma of the kidney and perfusion to the kidney should be explored as they may provide more meaningful information on kidney development in the fetus and future kidney function. [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]

Introduction: A vasa previa (VP) refers to aberrant chorionic vessels which can either connect the chorionic plate to a velamentous cord (type I) or a succenturiate or accessory lobe to the main placental mass (type II).Methods: We performed retrospective cohort study of 32 singleton pregnancies diagnosed with VP. The levels of maternal serum alpha-fetoprotein (AFP), human chorionic gonadotropin (hCG) and unconjugated estriol (uE3) were measured at 15-18 weeks as part of the triple test screening for Trisomy 21. The data were subdivided according to the type of VP and compared with those of a control group with central cord insertion and no succenturiate or accessory placental lobe.Results: Twenty one (65.6%) parturient women presented with VP type I and 11 (34.4%) with VP type II. The mean birthweight and placental weight was significantly higher in pregnancies with VP type II than in pregnancies with VP with VP type I (3037.3±400.9 gr vs 2493.5±491.6 gr; p=0.004 and 511.0±47.2 gr vs 367.1±64.3 gr; p<0.0001; respectively). The mean hCG level in VP type II was significantly (p<0.001) higher than those with type I (2.38MoM vs 1.17MoM) and compared to controls (2.38MoM vs 0.99MoM).Conclusions: There is no obvious impact on both placental and fetal growth in VP type II. By contrast, VP type I is associated with slower feto-placental growth secondary to impaired development and biological functions of the placenta during the first half of pregnancy. [ABSTRACT FROM AUTHOR]

Background: Women with a history of previous cesarean delivery, presenting with a placenta previa, have become the largest group with the highest risk for placenta previa accreta.Objective: The objective of the study was to evaluate the accuracy of ultrasound imaging in the prenatal diagnosis of placenta accreta and the impact of the depth of villous invasion on management in women presenting with placenta previa or low-lying placenta and with 1 or more prior cesarean deliveries.Study Design and Data Sources: We searched PubMed, Google Scholar, clinicalTrials.gov, and MEDLINE for studies published between 1982 and November 2016.Study Eligibility Criteria: Criteria for the study were cohort studies that provided data on previous mode of delivery, placenta previa, or low-lying placenta on prenatal ultrasound imaging and pregnancy outcome. The initial search identified 171 records, of which 5 retrospective and 9 prospective cohort studies were eligible for inclusion in the quantitative analysis.Study Appraisal and Synthesis Methods: The studies were scored on methodological quality using the Quality Assessment of Diagnostic Accuracy Studies tool.Results: The 14 cohort studies included 3889 pregnancies presenting with placenta previa or low-lying placenta and 1 or more prior cesarean deliveries screened for placenta accreta. There were 328 cases of placenta previa accreta (8.4%), of which 298 (90.9%) were diagnosed prenatally by ultrasound. The incidence of placenta previa accreta was 4.1% in women with 1 prior cesarean and 13.3% in women with ≥2 previous cesarean deliveries. The pooled performance of ultrasound for the antenatal detection of placenta previa accreta was higher in prospective than retrospective studies, with a diagnostic odds ratios of 228.5 (95% confidence interval, 67.2-776.9) and 80.8 (95% confidence interval, 13.0-501.4), respectively. Only 2 studies provided detailed data on the relationship between the depth of villous invasion and the number of previous cesarean deliveries, independently of the depth of the villous invasion. A cesarean hysterectomy was performed in 208 of 232 cases (89.7%) for which detailed data on management were available. Positive correlations were found in the largest prospective studies between the cumulative rates of the more invasive forms of accreta placentation and the sensitivity and specificity of ultrasound imaging but not with diagnostic odds ratio values. We found no data on the ultrasound screening of placenta accreta at the routine midtrimester ultrasound examination from the nonexpert ultrasound units.Conclusion: Planning individual management for delivery is possible only with accurate evaluation of prenatal risk of accreta placentation in women presenting with a low-lying placenta/previa and a history of prior cesarean delivery. Ultrasound is highly sensitive and specific in the prenatal diagnosis of accreta placentation when performed by skilled operators. Developing a prenatal screening protocol is now essential to further improve the outcome of this increasingly more common major obstetric complication. [ABSTRACT FROM AUTHOR]

Objective: To determine the outcome of histological examinations of surgical specimens obtained from treatment of tubal ectopic pregnancy and to correlate with clinical findings, pre-operative ultrasound scans and the type of surgery.Study Design: A retrospective cohort study of 941 women diagnosed with a tubal ectopic pregnancy in the Early Pregnancy Unit and having surgical treatment at King's College Hospital, London. Clinical and ultrasound data had been entered contemporaneously on our electronic early pregnancy database and hospital clinical records over an 11year period from 2004 to 2014. Demographic data, clinical history, ultrasound scan parameters, type of surgical management and histological diagnosis were recorded. The primary outcome measure was the presence or absence of chorionic villi in the surgical specimen. Data were analysed using Mann Whitney U test for non-parametric data, relative risk for categorical data and binomial logistic regression.Results: A surgical specimen was obtained in 925 cases. Of these, 881/925 (95.2%) were positive for the presence of chorionic villi on histological examination. Patients with negative histology had a lower median gestational age, smaller ectopic pregnancies and lower serum human chorionic gonadotrophin levels. The relative risk of negative histology was significantly higher with a solid ectopic pregnancy on ultrasound (RR1.91, 95% CI 1.07-3.4) and with conservative surgery (RR 3.68, 95% CI 1.25-10.77). The relative risk was significantly lower with the presence of embryonic cardiac activity (RR 0.12, 95% CI 0.02-0.85). Only the serum hCG level was a significant predictor of negative histology on logistic regression analysis (p=0.048). In 39/44 women with negative histology, the human chorionic gonadotrophin level declined after surgery with no further intervention. Five of the 44 required a second surgical procedure as the ectopic pregnancy had been missed at the initial surgery and did not resolve.Conclusion: There is lack of histological confirmation of sonographically diagnosed and surgically confirmed ectopic pregnancies in approximately 5% of cases, making this a relatively common finding following surgical treatment of tubal ectopic pregnancy. Clinicians should be aware of this when counselling women with tubal ectopic pregnancies about to undergo surgery, include this risk in the consent process and plan post-surgical follow up with this in mind. [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]

The detection of increased nuchal translucency is crucial for the assessment risk of aneuploidies and other fetal anomalies. This study aimed to investigate the ability of a transverse view of the fetal head to detect increased fetal nuchal translucency at 11 to 13 weeks of gestation. This was a prospective study enrolling a nonconsecutive series of women who attended our outpatient clinic from January 2020 to April 2021 for combined screening and were examined by operators certified by the Fetal Medicine Foundation. In each patient, nuchal translucency measurements were obtained both from a median sagittal view and from a transverse view. A second sonologist blinded to the results of the first examination obtained another measurement to assess intermethod and interobsever reproducibility. A total of 1023 women were enrolled. An excellent correlation was found between sagittal and transverse nuchal translucency measurements, with a mean difference of 0.01 mm (95% confidence interval, −0.01 to 0.02). No systematic difference was found between the 2 techniques. The inter-rater reliability (intraclass correlation coefficient, 0.957; 95% confidence interval, 0.892–0.983) and intrarater reliability (intraclass correlation coefficient, 0.976; 95% confidence interval, 0.941–0.990) of axial measurements were almost perfect. Transverse measurements of 3.0 mm identified all cases with sagittal measurements of ≥3.0 with a specificity of 99.7%; transverse measurements of >3.2 mm identified all cases with sagittal measurements of 3.5 mm with a specificity of 99.7%. The time required to obtain transverse nuchal translucency measurements was considerably shorter than for sagittal measurements, particularly when the fetus had an unfavorable position. When the sonogram is performed by an expert sonologist, the difference in nuchal translucency measurement obtained with a transverse or sagittal plane is minimal. Increased nuchal translucency can be reliably identified by using transverse views, and in some cases, this may technically be advantageous. [ABSTRACT FROM AUTHOR]

Résumé Cette revue iconographique se propose dans un premier temps de faire le point sur les grands principes de l’approche segmentaire des cardiopathies congénitales, son origine, ses définitions et ses objectifs en particulier. Dans un second temps, au travers d’illustrations échographiques nous envisagerons son application pratique en dépistage prénatal. Enfin, par des exemples iconographiques en échographie et en IRM, nous discuterons son utilisation potentielle en évaluation diagnostique fœtale. This pictorial essay will initially present the origin, definitions, objectives and main principles of the segmental approach to congenital heart diseases. Then, through ultrasound scans iconography we will consider its practical applications to prenatal screening. Eventually, through both ultrasound and MRI cases, we will discuss its potential use in fetal diagnostic evaluation. [ABSTRACT FROM AUTHOR]

Persistent cloaca malformation is the most severe type of anorectal and urogenital malformation. Decisions concerning the surgical treatment for this condition are taken during the first hours of life and may determine the quality of life of these patients. Thus, prenatal diagnosis becomes important for a prompt and efficient management of the fetus and newborn, and accurate counseling of the parents regarding its consequences and the future of the baby. Careful evaluation by ultrasonography, and further in-depth analysis with MRI, allow prenatal detection of characteristic findings, which can lead to diagnose or at least suspect this condition. We reviewed our experience and the literature in order to highlight the most important clues that can guide the physician in the differential diagnosis. [ABSTRACT FROM AUTHOR]

Résumé Objectif Les anomalies du développement maxillofacial concernent 1 pour 700 naissances. Environ 30 % des diagnostics anténatals (fentes du palais primaire isolée associée ou non à une atteinte du palais secondaire) sont corrigés en postnatal. Cette étude observationnelle rétrospective a pour but d’analyser la corrélation entre le dépistage échographique et l’aspect postnatal dans le cadre des fentes toutes confondues, en comparant les données anté- et postnatales. Méthodes Tous les enfants nés entre le 1er décembre 2009 et le 31 janvier 2014 dans un centre de référence de diagnostic anténatal et présentant une fente du palais primaire et/ou secondaire ont été inclus. Les malformations associées à une fente ont été exclus. Une comparaison a été réalisée entre les données anténatales selon les comptes rendus d’échographie et celles postnatales décrites par le chirurgien maxillofacial lors de la chirurgie. Résultats Quarante-quatre enfants ont été inclus et 3 exclus en raison d’une anomalie associée. Parmi ces 41 enfants, 27 enfants ont bénéficié d’un dépistage. Le diagnostic échographique et clinique était identique pour 23 cas (85,2 %) et inexact pour 4 patientes (14,8 %). En cas d’atteinte du palais primaire un diagnostic anténatal a été réalisé pour 19 cas sur 21 (90,5 %), mais seulement 8 sur 20 si l’atteinte concernait uniquement le palais secondaire (42,1 %) dont 7 avec une séquence de Pierre-Robin. Discussion La sensibilité du dépistage anténatal des fentes du palais primaire et secondaire augmente ces dernières années avec un taux de 85,2 % dans notre série. Par contre, pour les fentes du palais secondaire seules, la caractérisation semble être plus difficile et l’échographie 3D n’améliore pas toujours la performance du dépistage. Conclusion L’échographie 2D semblerait suffisante pour le dépistage de la fente du palais primaire et secondaire. L’échographie 3D pourrait être utile pour une meilleure représentation de la fente pour les futurs parents. Un même langage concernant la classification des fentes, faciliteraient l’harmonisation des comptes rendus et une meilleure compréhension entre les professionnels. La présence du chirurgien maxillofacial en salle d’échographie, permettrait à l’échographiste d’orienter son échographie de façon précise, voire d’améliorer sa courbe d’apprentissage. Objectives Anomalies of the maxillofacial development concern 1 for 700 births. About 30 % of prenatal diagnoses of isolated primary cleft palate or associated with a cleft of secondary palate will be corrected in postnatal. This retrospective observational study was designed to compare the antenatal data and postnatal diagnosis regarding a series of clefts. Materials and methods All children born between 1 December 2009 and 31 January 2014 in a prenatal diagnostic reference center and having a cleft palate were included. Newborns with an abnormality associated with the cleft were excluded. A comparison was made between the data in the antenatal ultrasound reports and postnatal those described by the surgeon during surgery. Results Forty-four children were included and three infants were excluded due to associated anomalies. Of those 41 children, 27 children have been screened. Ultrasound and clinical diagnosis was the same for 23 cases (85.2 %) and inaccurate for 4 patients (14.8 %). In case of primary cleft palate prenatal diagnosis was performed to 19 cases of 21 (90.5 %), but only 8 of 20 if only secondary cleft palate (42.1 %) including 7 with a Pierre-Robin sequence. Discussion Antenatal screening sensitivity of primary and secondary cleft palate increase in recent years with a rate of 85.2 % in our series. By contrast, diagnosis of isolated secondary cleft palate seems to be more difficult and 3D ultrasound does not always improve screening performance. Conclusion Ultrasound 2D seem sufficient for screening of primary and secondary cleft palate. The 3D ultrasound may be useful for a better representation of the cleft for future parents. The same language concerning the classification of the clefts facilitates harmonization of reporting and understanding between professionals. The presence of the maxillofacial surgeon ultrasound room would allow the sonographer to direct its ultrasound accurately or improve its learning curve. [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]

Conjoined twins are rare, representing 1 in 50,000 to 1 in 200,000 live births, and the prognosis is generally poor. Accurate prenatal diagnosis by an experienced multidisciplinary team using a combination of imaging modalities allows parents to make fully informed choices. This may include termination of pregnancy, which is easier and safer at the earlier gestations at which diagnosis is now being made; continuing with the pregnancy but accepting that only palliative care is appropriate after birth; or planned intensive care and separation of the twins after birth. Delivery will invariably be by cesarean section in order to minimize the risk of peripartum harm to both mother and babies. [ABSTRACT FROM AUTHOR]

Lenticulostriate vasculopathy (LSV) refers to increased echogenicity of the penetrating vessels that supply the basal ganglia and segments of the internal capsule seen on cranial ultrasound. Initially identified in infants with congenital infection, LSV has now been associated with a variety of infectious and non-infectious conditions. Although robust epidemiologic studies are lacking, the available evidence does not support broad evaluation for multiple congenital infections when LSV is identified. We propose screening infants with LSV for congenital cytomegalovirus infection and ensuring that prenatal screening included appropriate testing for syphilis, human immunodeficiency virus, and rubella-immune status. Large, prospective observational studies are needed to determine the incidence of LSV and the relative contribution of infectious and non-infectious conditions to LSV in the neonate. [ABSTRACT FROM AUTHOR]

Objectives To investigate the natural history, associated abnormalities and outcome of 12 fetuses with arachnoid cyst diagnosed antenatally by ultrasound and magnetic resonance imaging and to compare the outcome with cases in the literature. Methods A retrospective study of all cases of antenatally detected fetal arachnoid cysts was performed in patients referred to a tertiary unit between 2007 and 2013. Associated abnormalities, pregnancy outcome and postnatal follow-up were analyzed. All papers about prenatally diagnosed arachnoid cysts, of the last 30 years, were evaluated (search terms in Pubmed: “prenatal diagnosis”, “Arachnoid Cysts”). Results Fetal arachnoid cysts were diagnosed in 12 fetuses, 9 were females. The mean gestational age of diagnosis was 28 1/7 (range 19 1/7–34 2/7 weeks). A total of 9 cases were supratentorial, 3 were located in the posterior fossa. In 10 cases a fetal MRI was performed which confirmed brain compression in 4 out of 5 supratentorial arachnoid cyst. MRI did not reveal other malformations nor signs of nodular heterotopia. Only one fetus presented with additional major anomalies (bilateral ventricumomegaly of >20 mm and rhombencephalosynapsis) leading to a termination of pregnancy. Two neonates underwent endoscopic fenestration of the arachnoid cyst in the first week of life with no additional intervention in childhood. All but one (10/11) had a favorable postnatal outcome. This child suffered from visual impairment at autism was diagnosed at the age of 5. One child had a surgical correction of strabismus later in childhood. In one child the infratentorial arachnoid cyst regressed spontaneously on ultrasound and MRI in the postnatal period. Conclusions The majority of arachnoid cysts in this series are of benign origin and remain stable. Based on the current series and the review of the literature, in the absence of other associated anomalies and when the karyotype is normal, the postnatal overall and neurological outcome is favorable. Large suprasellar arachnoid cysts however, may cause visual impairment and endocrinological disturbances. Rarely associated cerebral or cerebellar malformations are present. Modern postnatal management of suprasellar arachnoid cyst consists of endoscopic cystoventriculostomy. [ABSTRACT FROM AUTHOR]

Prenatal diagnosis was developed in the 1970s, a result of a partly contingent coming together of three medical innovations—amniocentesis, the study of human chromosomes and obstetrical ultrasound—with a social innovation, the decriminalization of abortion. Initially this diagnostic approach was proposed only to women at high risk of fetal malformations. Later, however, the supervision of the fetus was extended to all pregnant women. The latter step was strongly favoured by professionals’ aspiration to prevent the birth of children with Down syndrome, an inborn condition perceived as a source of suffering for families and a burden on public purse. Experts who promoted screening for ‘Down risk’ assumed that the majority of women who carry a Down fetus will decide to terminate the pregnancy, and will provide a private solution to a public health problem. The generalization of screening for Down risk increased in turn the frequency of diagnoses of other, confirmed or potential fetal pathologies, and of dilemmas linked with such diagnoses. Debates on such dilemmas are usually limited to professionals. The transformation of prenatal diagnosis into a routine medical technology was, to a great extent, an invisible revolution. [ABSTRACT FROM AUTHOR]

Objective Ultrasound has been reported to be greater than 90% sensitive for the diagnosis of accreta. Prior studies may be subject to bias because of single expert observers, suspicion for accreta, and knowledge of risk factors. We aimed to assess the accuracy of ultrasound for the prediction of accreta. Study Design Patients with accreta at a single academic center were matched to patients with placenta previa, but no accreta, by year of delivery. Ultrasound studies with views of the placenta were collected, deidentified, blinded to clinical history, and placed in random sequence. Six investigators prospectively interpreted each study for the presence of accreta and findings reported to be associated with its diagnosis. Sensitivity, specificity, positive predictive, negative predictive value, and accuracy were calculated. Characteristics of accurate findings were compared using univariate and multivariate analyses. Results Six investigators examined 229 ultrasound studies from 55 patients with accreta and 56 controls for 1374 independent observations. 1205/1374 (87.7% overall, 90% controls, 84.9% cases) studies were given a diagnosis. There were 371 (27.0%) true positives; 81 (5.9%) false positives; 533 (38.8%) true negatives, 220 (16.0%) false negatives, and 169 (12.3%) with uncertain diagnosis. Sensitivity, specificity, positive predictive value, negative predictive value, and accuracy were 53.5%, 88.0%, 82.1%, 64.8%, and 64.8%, respectively. In multivariate analysis, true positives were more likely to have placental lacunae (odds ratio [OR], 1.5; 95% confidence interval [CI], 1.4-1.6), loss of retroplacental clear space (OR, 2.4; 95% CI, 1.1-4.9), or abnormalities on color Doppler (OR, 2.1; 95% CI, 1.8-2.4). Conclusion Ultrasound for the prediction of placenta accreta may not be as sensitive as previously described. [ABSTRACT FROM AUTHOR]

Résumé: Objectifs: Répertorier les signes échographiques mis en évidence lors de la suspicion d’un placenta accreta. Les objectifs secondaires sont d’analyser la pertinence du diagnostic en échographie et en imagerie par résonance magnétique (IRM), et de connaître les circonstances diagnostiques afin d’identifier une population à risque. Patientes et méthodes: Il s’agit d’une étude rétrospective monocentrique. Les cas de placentas accreta pris en charge au centre hospitalo-universitaire de Lille entre 2005 et 2010, suspectés en anténatal ou découverts per-partum, ont été recensés. Résultats: Vingt-sept patientes ont présenté un placenta accreta sur cette période. 22 cas étaient suspectés en anténatal, dont 21 confirmés à la naissance. Six cas étaient découverts per-partum. Le diagnostic était suspecté dans 41 % des cas suite à un épisode de métrorragies. Cent pourcent des patientes suivies au diagnostic anténatal avaient un utérus au moins unicicatriciel et un placenta antérieur inséré bas. Cinquante pourcent des patientes non dépistées avaient un placenta postérieur non inséré bas. Les signes échographiques les plus fréquents étaient ű lacune placentaire Ƈ (85,7 %), ű vascularisation anormale Ƈ (71,4 %), ű perte du liseré hypoéchogène du myomètre Ƈ (66,7 %), ű irrégularité de la paroi vésicale Ƈ (57,1 %). La sensibilité de l’échographie de dépistage est de 78 %. Vingt et une IRM, réalisées en deuxième intention confirmaient le diagnostic dans 66,7 % des cas. Discussion et conclusion: L’échographie est un examen pertinent pour le diagnostic de placenta accreta. Les placentas postérieurs, plus difficiles d’accès, ne doivent pas être négligés. Les placentas antérieurs praevia chez les patientes multipares ayant un utérus cicatriciel doivent requérir toute l’attention de l’examinateur. [ABSTRACT FROM AUTHOR]

Abstract: We report a molecular cytogenetic characterization of 17p13.3 deletion syndrome by array comparative genomic hybridization (aCGH), fluorescence in situ hybridization (FISH) and quantitative polymerase chain reaction (qPCR) in a fetus with lissencephaly, corpus callosum dysgenesis, ventriculomegaly, microcephaly, intrauterine growth restriction (IUGR), polyhydramnios and single umbilical artery. aCGH analysis revealed a 3.17-Mb deletion at 17p13.3, or arr [hg19] 17p13.3 (0–3,165,530)×1. The qPCR assays revealed a maternal origin of the deletion. Metaphase FISH analysis detected the absence of the LIS1 probe signal on the aberrant chromosome 17. The karyotype was 46,XX,del(17)(p13.3). We review the literature of chromosome 17p13.3 deletion syndrome with prenatal findings and diagnosis, and suggest that prenatal ultrasound detection of central nervous system anomalies such as lissencephaly, corpus callosum dysgenesis/agenesis, ventriculomegaly and microcephaly associated with IUGR, polyhydramnios, congenital heart defects, abdominal wall defects and renal abnormalities should include a differential diagnosis of chromosome 17p13.3 deletion syndrome. [Copyright &y& Elsevier]

Purpose: To quantify the detection rate and accuracy of prenatal ultrasound in patients with congenital upper extremity anomalies. Methods: A total of 100 patients with congenital upper extremity reduction or duplication anomalies were enrolled prospectively in this investigation at the initial visit to our congenital hand clinic. Demographic and pregnancy-related data were collected along with prenatal diagnoses. We recorded all ultrasound-identified upper extremity anomalies as reported by the parents. Finally, we compared the prenatal diagnosis with the final congenital hand clinic diagnosis. Results: The first ultrasound was performed at a mean 11 weeks’ gestation, and patients underwent an average of 8 prenatal ultrasounds (range, 1–40 prenatal ultrasounds). Sixty patients underwent standard ultrasound and 40 had a 3-dimensional ultrasound as well. Of the 100 patients, 31 had an upper extremity anomaly by ultrasound. Of the 31 prenatal ultrasound diagnoses, 18 were confirmed as accurate during evaluation in the congenital hand clinic. Three-dimensional ultrasound was more sensitive for the detection of upper extremity anomalies. Conclusions: The overall detection rate and accuracy of ultrasonography for upper extremity anomalies were low despite advancements in imaging technology. Type of study/level of evidence: Diagnostic II. [Copyright &y& Elsevier]

Background: Two randomized controlled trials compared the neonatal and infant outcomes after fetoscopic endoluminal tracheal occlusion with expectant prenatal management in fetuses with severe and moderate isolated congenital diaphragmatic hernia, respectively. Fetoscopic endoluminal tracheal occlusion was carried out at 27+0 to 29+6 weeks' gestation (referred to as "early") for severe and at 30+0 to 31+6 weeks ("late") for moderate hypoplasia. The reported absolute increase in the survival to discharge was 13% (95% confidence interval, -1 to 28; P=.059) and 25% (95% confidence interval, 6-46; P=.0091) for moderate and severe hypoplasia.Objective: Data from the 2 trials were pooled to study the heterogeneity of the treatment effect by observed over expected lung-to-head ratio and explore the effect of gestational age at balloon insertion.Study Design: Individual participant data from the 2 trials were reanalyzed. Women were assessed between 2008 and 2020 at 14 experienced fetoscopic endoluminal tracheal occlusion centers and were randomized in a 1:1 ratio to either expectant management or fetoscopic endoluminal tracheal occlusion. All received standardized postnatal management. The combined data involved 287 patients (196 with moderate hypoplasia and 91 with severe hypoplasia). The primary endpoint was survival to discharge from the neonatal intensive care unit. The secondary endpoints were survival to 6 months of age, survival to 6 months without oxygen supplementation, and gestational age at live birth. Penalized regression was used with the following covariates: intervention (fetoscopic endoluminal tracheal occlusion vs expectant), early balloon insertion (yes vs no), observed over expected lung-to-head ratio, liver herniation (yes vs no), and trial (severe vs moderate). The interaction between intervention and the observed over expected lung-to-head ratio was evaluated to study treatment effect heterogeneity.Results: For survival to discharge, the adjusted odds ratio of fetoscopic endoluminal tracheal occlusion was 1.78 (95% confidence interval, 1.05-3.01; P=.031). The additional effect of early balloon insertion was highly uncertain (adjusted odds ratio, 1.53; 95% confidence interval, 0.60-3.91; P=.370). When combining these 2 effects, the adjusted odds ratio of fetoscopic endoluminal tracheal occlusion with early balloon insertion was 2.73 (95% confidence interval, 1.15-6.49). The results for survival to 6 months and survival to 6 months without oxygen dependence were comparable. The gestational age at delivery was on average 1.7 weeks earlier (95% confidence interval, 1.1-2.3) following fetoscopic endoluminal tracheal occlusion with late insertion and 3.2 weeks earlier (95% confidence interval, 2.3-4.1) following fetoscopic endoluminal tracheal occlusion with early insertion compared with expectant management. There was no evidence that the effect of fetoscopic endoluminal tracheal occlusion depended on the observed over expected lung-to-head ratio for any of the endpoints.Conclusion: This analysis suggests that fetoscopic endoluminal tracheal occlusion increases survival for both moderate and severe lung hypoplasia. The difference between the results for the Tracheal Occlusion To Accelerate Lung growth trials, when considered apart, may be because of the difference in the time point of balloon insertion. However, the effect of the time point of balloon insertion could not be robustly assessed because of a small sample size and the confounding effect of disease severity. Fetoscopic endoluminal tracheal occlusion with early balloon insertion in particular strongly increases the risk for preterm delivery. [ABSTRACT FROM AUTHOR]

Background: Personal-device-based point-of-care-ultrasound (P-POCUS) probes plug directly into a cell phone or tablet to function as its display, creating the potential to increase access to obstetric ultrasonography in complex healthcare settings (COVID units, low resource settings); however, new technology must be proven to be reliable in the obstetric setting before integrating into practice.Objective: To evaluate the intraclass correlation (reliability) of personal-device-based-point-of-care-ultrasound devices as compared with standard ultrasound machines in obstetrics.Study Design: This was a prospective, observational study of patients between 19-39 weeks gestation in an urban, prenatal ultrasound diagnosis center. Each patient underwent assessment by an expert sonographer using standard ultrasound machines and personal-device-based-point-of-care-ultrasound devices to determine estimated fetal weight. The statistical reliability and agreement between the estimated fetal weights was assessed through intraclass correlation coefficients, Bland-Altman plots, and Pearson correlation coefficients.Results: 100 paired sets of scans were performed from October 2020 to December 2020. For the estimated fetal weights, there was near-perfect agreement, with an intraclass correlation coefficient of 0.99 (P<.0001). Bland-Altman analysis showed an average difference of 53 grams, with 95% limit of agreement between -178 grams and 283 grams. Pearson correlation showed near-perfect correlation between the measurements (r=0.99, P<.0001).Conclusion: personal-device-based point-of-care-ultrasound devices are reliable tools for performing basic obstetrical ultrasound and have the potential to increase access to obstetrical ultrasound worldwide. [ABSTRACT FROM AUTHOR]

Abstract: Ultrasound screening has become an accepted part of antenatal practice despite limited evidence to support it. Although 18–20 weeks is the traditional time to screen for structural abnormalities, a number of abnormalities such as acrania and anterior abdominal wall defects can be detected with confidence as early as 11–14 weeks of gestation. The UK Fetal Anomaly Screening Programme (FASP) leads the creation of national guidelines to standardize the practice in the UK. Structural abnormalities can be isolated, or be associated with an underlying chromosomal abnormality or a genetic syndrome. Whilst parental expectations are high, antenatal ultrasound is a screening test and will have false negatives and positives. Antenatal detection rates are higher in countries with a national screening programme. Although 3D/4D ultrasound can generate an image that the parents can better relate to, the advantages over conventional ultrasound are limited. Fetal MRI plays an important complementary role in assessment of fetal brain abnormalities. Input from multiple specialities may be needed following antenatal detection of structural abnormality. Health professionals should provide appropriate information to the prospective parents but remain non-judgemental with their counselling. [Copyright &y& Elsevier]

Abstract: Background: A significant proportion of second-trimester abortions are done for fetal anomalies. Our objective was to evaluate the impact of ultrasound at <14 weeks on the gestational age at abortion for structural fetal abnormalities. Study Design: Retrospective review identified all patients undergoing abortion following sonographic diagnosis of structural fetal anomalies at a single institution from 2004–2011. First-trimester ultrasound findings were reviewed, and abnormalities were categorized as “diagnostic” or “nondiagnostic.” Chi-square analysis and Mann–Whitney U test were used for statistical comparison. Results: One hundred thirty-two patients who underwent abortion due to structural fetal abnormalities were included, 109 of whom underwent ultrasound at 11–13 weeks. In those scanned at <14 weeks, there were diagnostic findings in 36 cases (33.0%) and abnormal nuchal translucency or other nondiagnostic finding leading to early second-trimester ultrasound in 16 cases (14.7%). In those scanned at <14 weeks, median gestational age at abortion was earlier compared to those who underwent initial anatomic evaluation in the second trimester, 19 weeks (13.5–21) versus 21 weeks (19–22), p=.001. Conclusion: Ultrasound at <14 weeks was associated with an earlier gestational age at abortion in pregnancies with structural fetal abnormalities. [Copyright &y& Elsevier]

Summary: Fetal imaging technology has been advancing remarkably and prenatal detection and diagnoses have been moved forward from the second and third trimesters to the first trimester. Structural abnormalities detected by fetal imaging often lead to prenatal diagnoses of genetic disorders. However, there are still dilemmas in fetal diagnoses in normal karyotype cases with strong suspicion of congenital genetic disorders from sonographic findings. When fetal sonography reveals multiple minor abnormalities originating from various organs, counseling dilemmas and parental anxieties become greater than before karyotyping. Array-comparative genomic hybridization (aCGH) was developed as a high-resolution analysis of DNA copy number variations (CNVs). In seven cases presenting with abnormal brain structures by fetal imaging, abnormal CNVs were confirmed by aCGH but conventional karyotyping yielded normal results. Although careful patient selection is required in order to deal with microarray results and parental counseling, ‘sonogenetics’ – incorporating the idea of ‘fetuses first’ – will play an important role in the era of molecular genetics. Recent advances in non-invasive prenatal testing by using fetal cell-free DNA in maternal plasma has the potential to generate misleading prenatal diagnoses without the observation of fetuses. However, no fetal diagnoses should be made without observing fetuses and we must not forget ‘the fetus as a patient’. [Copyright &y& Elsevier]

Summary: Fetal cerebral ventriculomegaly (VM) is defined as an enlargement of the lateral ventricles of the developing fetal brain. It is diagnosed when the width of one or both lateral ventricles, measured at the level of the atrium, is ≥10 mm. VM is defined as mild when the atrial width is 10–15 mm and severe when >15 mm. VM is a non-specific sonographic sign which is common to various pathological conditions. It is frequently associated with neural and extraneural anomalies. The rate of associated malformations is higher (≥60%) in severe VM and lower (about 40%) in cases of mild VM. When an abnormality is associated with severe VM the incidence of aneuploidies is high (>15%); in isolated mild VM the mean value of aneuploidy is 2.7%. The rate of infections in severe VM is 10–20%, in mild forms 1–5%. Since the prognosis in cases of VM depends mainly on the associated anomalies, a careful examination of the fetus, particularly of the brain, is mandatory. Magnetic resonance imaging can be a useful diagnostic tool complementary to ultrasound in order to recognize subtle brain anomalies, such as neuronal migration and proliferation disorders. [Copyright &y& Elsevier]

Abstract: Objective: The objective of this study is to describe the evolution of 8 cases of congenital malformations of the umbilical-portal-hepatic venous system diagnosed before the first month of life. Materials and methods: All cases of congenital malformation of the portal and hepatic venous system diagnosed prenatally or during the first month of life in our institution were systematically reviewed since November 2000. Clinical features, imaging, and anatomical findings were reviewed, focusing primarily on clinical and radiologic evolution. Results: Eight cases of congenital malformation of the umbilical-portal-hepatic venous system were studied. Fifty percent of these malformations were diagnosed prenatally. We report 4 portosystemic shunts. Three involuted spontaneously, and the fourth one required surgical treatment. We report a variation of the usual anatomy of portal and hepatic veins that remained asymptomatic, an aneurysmal dilatation of a vitelline vein causing portal vein thrombosis that needed prompt surgical treatment with good result, a complex portal and hepatic venous malformation treated operatively, and a persistent right umbilical vein that remained asymptomatic. Conclusion: Prenatal diagnosis of malformations of the umbilical-portal-hepatic venous network is uncommon. Little is known about the postnatal prognosis. Clinical, biologic, and radiologic follow-up by ultrasonography is essential to distinguish pathologic situations from normal anatomical variants. [Copyright &y& Elsevier]

Abstract: Background: Emergency physicians are increasingly performing transvaginal ultrasound (TVUS) to rule out ectopic pregnancy. However, little is known about appropriate educational pathways to train emergency medicine residents in TVUS. Study Objectives: To evaluate the ability of Emergency Medicine (EM) residents who underwent a training program in TVUS to detect the presence or absence of an intrauterine pregnancy (IUP) in patients of < 13 weeks gestation with vaginal bleeding or abdominal pain, as compared to the final interpretation of each study as determined by the Emergency Department (ED) Director of Ultrasound. Methods: This was a prospective, observational study in a single residency program. Training included a lecture, competency examination, and 10 supervised TVUSs. The EM residents then performed TVUSs with the goal of determining the presence or absence of an IUP without input from an attending physician. Correlation with the ED Director of Ultrasound was assessed for the cohort, and stratified by year of training. Results: There were 22 residents who performed 75 TVUSs over 17 months. Correlation with the ED Director of Ultrasound was 93.3%. Differences in correlation with the ED Director of Ultrasound were noted when compared by year of training: post-graduate year (PGY)-3 (93.3%), PGY-2 (92.1%), and PGY-1 (100%); p < 0.001. Conclusion: Residents were able to perform TVUSs to determine the presence or absence of an IUP in patients in whom the diagnosis of ectopic pregnancy was being considered with a high degree of correlation with the ED Director of Ultrasound after a brief training program. Correlation with the ED director of ultrasound was influenced by year of training. [Copyright &y& Elsevier]