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Key content• In the presence of a fetal structural anomaly, fetal DNA can be obtained through invasive testing (e.g. amniocentesis and chorionic villus sampling) in order to undertake genomic testing to attempt to uncover a unifying genetic diagnosis.• There are number of traditional and more novel genomic tests available, which can identify aneuploidy, chromosomal structural variation and/or sequence variants within genes.• The cumulative diagnostic yield of such technologies is approximately 25%, 6% and up to 80% in some cohorts for QF-PCR/G-banding karyotype, chromosome microarray and exome sequencing, respectively.Learning objectives• To understand the technical basis and clinical indications for QF-PCR, G-banding karyotype, chromosome microarray and exome sequencing.• To appreciate the potential benefits and challenges associated with exome sequencing.• To gain awareness of modern technologies that may be utilised to address recurrence risk, e.g. preimplantation genetic diagnosis and non-invasive prenatal diagnosis.Ethical issues• Not all technologies are currently available across all four nations of the UK, hence challenges are raised regarding healthcare equity.• There can be uncertainty around the interpretation of prenatal genomic test results, which can have implications in counselling, particularly regarding termination of pregnancy.• Incidental findings may be revealed, which can have implications for counselling and the future health of the fetus and the parents.

Objective To study the anatomy of the brachial plexus in fetuses and to evaluate differences in morphology during evolution, or to find anatomical situations that can be identified as the cause of obstetric paralysis. Methods Nine fetuses (12 to 30 weeks of gestation) stored in formalin were used. The supraclavicular and infraclavicular parts of the brachial plexus were dissected. Results In its early course, the brachial plexus had a cord-like shape when it passed through the scalene hiatus. Origin of the phrenic nerve in the brachial plexus was observed in only one fetus. In the deep infraclavicular and retropectoralis minor spaces, the nerve fibers of the brachial plexus were distributed in the axilla and medial bicipital groove, where they formed the nerve endings. Conclusion The brachial plexus of human fetuses presents variations and relations with anatomical structures that must be considered during clinical and surgical procedures for neonatal paralysis of the upper limbs.

OBJETIVO: Descrever a prevalência das malformações encontradas nos fetos com trissomia dos cromossomos 13, 18 e 21, identificando as mais frequentes em cada condição. MÉTODOS: Estudo transversal retrospectivo, com análise dos casos de trissomias dos cromossomos 13, 18 e 21 que foram diagnosticados pelo cariótipo fetal obtido por amniocentese/cordocentese, entre outubro de 1994 e maio de 2014, em um Hospital de Ensino da região Sul do Brasil. Foram descritas as malformações identificadas no exame ultrassonográfico morfológico e, posteriormente, confirmadas em exames do recém-nascido e/ou por necropsia fetal. Os resultados foram analisados por meio do teste de Fisher e da análise de variância (ANOVA). O nível de significância empregado foi 5% (p=0,05). RESULTADOS: Em 840 exames realizados, foram diagnosticados 69 casos de trissomias; nove deles foram excluídos por desfecho ocorrido fora do Hospital de Clínicas de Porto Alegre ou prontuário incompleto, restando 60 casos (nove de trissomia do cromossomo 13, 26 do cromossomo 18 e 25 do cromossomo 21). As cardiopatias ocorreram, na maioria dos casos, nos três grupos; a comunicação interventricular foi mais prevalente, em 66,7% do grupo da trissomia 13. As anomalias gastrintestinais aconteceram mais no grupo da trissomia 18, principalmente a onfalocele (38,5%; p

International audience; This review highlights the importance of performing an autopsy when faced with fetal abortion or termination of pregnancy with suspicion of an inborn error of metabolism. Radiological, macroscopic and microscopic features found at autopsy as well as placental anomalies that can suggest such a diagnosis are detailed. The following metabolic disorders encountered in fetuses are discussed: lysosomal storage diseases, peroxisomal disorders, cholesterol synthesis disorders, congenital disorders of glycosylation, glycogenosis type IV, mitochondrial respiratory chain disorders, transaldolase deficiency, generalized arterial calcification of infancy, hypophosphatasia, arylsulfatase E deficiency, inborn errors of serine metabolism, asparagine synthetase deficiency, hyperphenylalaninemia, glutaric aciduria type I, non-ketotic hyperglycinemia, pyruvate dehydrogenase deficiency, pyruvate carboxylase deficiency, glutamine synthase deficiency, sulfite oxidase and molybdenum cofactor deficiency.

Objective To assess the relationship between the finding of fetal femur diaphysis length (FL) below the 5th percentile at the second-trimester scan and pregnancy outcome, in a population in which more than 90% of women attend first-trimester screening. Methods This was a retrospective study of all Danish singleton pregnancies with a 17–22-week anomaly scan between 1 January 2008 and 30 June 2011. Information on FL and gestational age (GA) at anomaly scan, on birth weight and GA at delivery and on chromosomal abnormalities was obtained from the Danish Fetal Medicine Database. Results Short FL was identified in 2718 (1.8%) of 147 766 fetuses and was present in 11 (16.2%) of the 68 fetuses affected by trisomy 21 (positive likelihood ratio (LR+) 8.8 (95% CI, 5.1–15.2)). Trisomy 13/18 and unbalanced autosomal structural abnormalities were also associated with a short FL in three (12.0%, LR+ 6.5 (95% CI, 2.3–18.9)) and eight (32.0%, LR+ 17.4 (95% CI, 9.8–30.9)) of the cases, respectively. The risk of a fetus having trisomy 21, trisomy 18, trisomy 13 or an unbalanced autosomal structural abnormality was 1 : 123 (95% CI, 79–192), given a short FL. Pregnancies with a fetus with short FL were more often affected by early preterm delivery (before 34 weeks) (5.6%; odds ratio (OR) = 4.2 (95% CI, 3.5–4.9)) and small-for-gestational-age (SGA) infants (13.9%; OR = 4.3 (95% CI, 3.8–4.8)). Conclusion Short FL at the second-trimester anomaly scan is associated with a significantly higher relative risk of chromosomal abnormalities, and a substantially higher absolute risk for SGA and early preterm delivery. Copyright © 2013 ISUOG. Published by John Wiley & Sons Ltd

We report a case of an abdominal mass in a newborn girl containing a fetus in fetu and two teratomas. Obstetrical sonography revealed the abnormality at 28 weeks of gestation. Post-natal US examination suggested the diagnosis of a fetus in fetu upon the finding of a vertebral column and fetal skeletal bones. US also showed two other rounded masses connected to the main lesion by vascular bundles. Preoperative MRI examination supplied further information regarding tissue composition and vascularisation of the mass lesion. The diagnosis was confirmed by pathological examination. Aetiological factors and radiological diagnosis of this rare tumour are reviewed and discussed.