{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T18:38:08Z","timestamp":1761763088526,"version":"build-2065373602"},"reference-count":33,"publisher":"MDPI AG","issue":"11","license":[{"start":{"date-parts":[[2020,10,30]],"date-time":"2020-10-30T00:00:00Z","timestamp":1604016000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Medicina"],"abstract":"<jats:p>Anorectal atresia (ARA) is a common congenital anomaly, but prenatal diagnosis is difficult, late, and unspecific. Utilizing a case of a 46 year old primipara with an egg donation In Vitro Fertilization (IVF) pregnancy, diagnosed at the first trimester scan with an anechoic isolated structure, which indicates anal atresia, we performed a systematic literature review in order to evaluate early prenatal ARA diagnosis. A total of 16 cases were reported as first trimester ARA suspicion, and only three had no associated anomalies. The most frequent ultrasound (US) sign was the presence of a cystic, anechoic pelvic structure of mainly tubular shape, or a plain abdominal cyst. In the majority of cases, structures were thin-walled and delimitated from the bladder. The presence of hyperechoic spots signifying enterolithiasis and peristaltic movements were helpful in order to establish the bowel origin of the lesion. Considering the high eventuality that the lesion is transitory, meaning later in pregnancy the fetus looks normal, early detection of such a sign should prompt further structural detailed evaluation, karyotyping, and appropriate pregnancy and postnatal counselling.<\/jats:p>","DOI":"10.3390\/medicina56110583","type":"journal-article","created":{"date-parts":[[2020,10,30]],"date-time":"2020-10-30T09:29:32Z","timestamp":1604050172000},"page":"583","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Can Anorectal Atresia Be Diagnosed in the First Trimester of Pregnancy? A Systematic Literature Review"],"prefix":"10.3390","volume":"56","author":[{"given":"Liana","family":"Ples","sequence":"first","affiliation":[{"name":"Department of Obstetrics and Gynecology, Carol Davila University of Medicine and Pharmacy, 050474 Bucharest, Romania"},{"name":"\u201cBucur\u201d Maternity, Saint John Hospital, 012361 Bucharest, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Radu","family":"Chicea","sequence":"additional","affiliation":[{"name":"Medicine Faculty, Lucian Blaga University, 550024 Sibiu, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mircea-Octavian","family":"Poenaru","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, Carol Davila University of Medicine and Pharmacy, 050474 Bucharest, Romania"},{"name":"\u201cBucur\u201d Maternity, Saint John Hospital, 012361 Bucharest, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Adrian","family":"Neacsu","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, Carol Davila University of Medicine and Pharmacy, 050474 Bucharest, Romania"},{"name":"\u201cBucur\u201d Maternity, Saint John Hospital, 012361 Bucharest, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9541-3347","authenticated-orcid":false,"given":"Romina Marina","family":"Sima","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, Carol Davila University of Medicine and Pharmacy, 050474 Bucharest, Romania"},{"name":"\u201cBucur\u201d Maternity, Saint John Hospital, 012361 Bucharest, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3228-7881","authenticated-orcid":false,"given":"Romeo","family":"Micu","sequence":"additional","affiliation":[{"name":"Obstetrics and Gynecology Dept, Iuliu Hatieganu Univerity of Medicine and Pharmacy, 400000 Cluj-Napoca, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2020,10,30]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"587","DOI":"10.1001\/archpedi.155.5.587","article-title":"One hundred three consecutive patients with anorectal malformations and their associated anomalies","volume":"155","author":"Cho","year":"2001","journal-title":"Arch. Pediatr. Adolesc. Med."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"521","DOI":"10.1002\/uog.9083","article-title":"Evaluation of the perianal muscular complex in the prenatal diagnosis of anorectal atresia in a high-risk population","volume":"39","author":"Ochoa","year":"2012","journal-title":"Ultrasound Obstet. Gynecol."},{"key":"ref_3","first-page":"331","article-title":"Associated malformationsin cases with congenital diaphragmatic hernia","volume":"19","author":"Stoll","year":"2008","journal-title":"Genet. Couns."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"803","DOI":"10.1002\/pd.4355","article-title":"Early prenatal diagnosis of the OEIS complex with different appearance in early compared with late pregnancy before spontaneous rupture of the cloacal membrane","volume":"34","author":"Mallmann","year":"2014","journal-title":"Prenat. Diagn."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"1071","DOI":"10.1007\/s00383-010-2685-3","article-title":"Prenatal diagnosis of cloacal malformations","volume":"26","author":"Bischoff","year":"2010","journal-title":"Pediatr. Surg. Int."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"904","DOI":"10.1002\/uog.3862","article-title":"Imperforate anus: A relatively common anomaly rarelydiagnosed prenatally","volume":"28","author":"Brantberg","year":"2006","journal-title":"Ultrasound Obstet. Gynecol."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"1521","DOI":"10.1016\/j.jpedsurg.2005.08.002","article-title":"Preliminary report on the International Conference for the Development of Standards for the Treatment of Anorectal Malformations","volume":"40","author":"Holschneider","year":"2005","journal-title":"J. Pediatr. Surg."},{"key":"ref_8","doi-asserted-by":"crossref","unstructured":"Moher, D., Liberati, A., Tetzlaff, J., Altman, D.G., and PRISMA Group (2009). Preferred reporting items for systematic review and meta-analyses: The PRISMA statement. PLoS Med., 6.","DOI":"10.1371\/journal.pmed.1000097"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"160","DOI":"10.1002\/jcu.22426","article-title":"Transient Distention of Right Posterior Located Sigma, a New Sonographic Sign for the Prenatal Diagnosis of Anal Atresia","volume":"45","author":"Bronshtein","year":"2016","journal-title":"J. Clin. Ultrasound"},{"key":"ref_10","first-page":"931","article-title":"Evolution of sonographic findings in a fetus with agenesis of the urethra, vagina, and rectum","volume":"16","author":"Carroll","year":"1996","journal-title":"PrenatDiagn."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"931","DOI":"10.1080\/14767050902994481","article-title":"Sonographic features of anorectal atresia at 12 weeks","volume":"22","author":"Chen","year":"2009","journal-title":"J. Matern. Neonatal Med."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"112","DOI":"10.1097\/RUQ.0000000000000282","article-title":"Prenatal Diagnosis of Vesicorectal Fistula","volume":"33","author":"Correia","year":"2017","journal-title":"Ultrasound Q."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"491","DOI":"10.1016\/j.gyobfe.2015.05.003","article-title":"Jouannic images kystiques abdominales f\u0153tales du premier trimestre","volume":"43","author":"Dhombres","year":"2015","journal-title":"Gyn\u00e9cologie Obst\u00e9trique Fertilit\u00e9"},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"781","DOI":"10.7863\/jum.2006.25.6.781","article-title":"Changing Antenatal Sonographic Appearance of Anorectal Atresia from First to Third Trimesters","volume":"25","author":"Gilbert","year":"2006","journal-title":"J. Ultrasound Med."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1055\/s-2007-993891","article-title":"First-Trimester Prenatal Sonographic Findings Associated with OEIS (Omphalocele-Exstrophy-Imperforate Anus-Spinal Defects) Complex: A Case and Review of the Literature","volume":"15","author":"Girz","year":"1998","journal-title":"Am. J. Perinatol."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"523","DOI":"10.1046\/j.1469-0705.2002.00694.x","article-title":"Sonographic features of anal atresia at 12 weeks","volume":"19","author":"Lam","year":"2002","journal-title":"Ultrasound Obstet. Gynecol."},{"key":"ref_17","doi-asserted-by":"crossref","unstructured":"Gad Liberty, Bardin, R., Gilboa, Y., Tover, A., Mashiach, R., Mazaki, E., and Shen, O. (2018). First trimester expression of anorectal malformation: Case report and review of the literature. J. Clin. Ultrasound, 46, 591\u2013597.","DOI":"10.1002\/jcu.22612"},{"key":"ref_18","doi-asserted-by":"crossref","unstructured":"Novikova, I., Solovyeva, I., Lishtvan, L., Venchikova, N., and Plevako, T. (2011). First trimester sonographic features of anorectal atresia: Report of two cases. Prenat. Diagn., 31.","DOI":"10.1002\/pd.2784"},{"key":"ref_19","doi-asserted-by":"crossref","unstructured":"Santos, J., Nogueira, R., Pinto, R., Cerveira, I., and Pereira, S. (2013). First Trimester Diagnosis of VACTERL Association. Clin. Appl. Pract. Limit. Bone Conduct. Speech, 3.","DOI":"10.4081\/cp.2013.e5"},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1002\/uog.1832","article-title":"First-trimester diagnosis of imperforate anus","volume":"25","author":"Taipale","year":"2005","journal-title":"Ultrasound Obstet. Gynecol."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1002\/jcu.20520","article-title":"First-trimester prenatal sonographic diagnosis of omphalocele-exstrophy-imperforate anus-spinal defects complex","volume":"37","author":"Wax","year":"2009","journal-title":"J. Clin. Ultrasound"},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"90","DOI":"10.1002\/pd.2642","article-title":"Challenges in the diagnosis of fetal non-chromosomal abnormalities at 11\u201313 weeks","volume":"31","author":"Syngelaki","year":"2011","journal-title":"Prenat. Diagn."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1007\/s00247-019-04513-2","article-title":"Prenatal imaging of anorectal malformations\u201410-year experience at a tertiary center in Switzerland","volume":"50","author":"Rohrer","year":"2019","journal-title":"Pediatr. Radiol."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"413","DOI":"10.1002\/uog.12552","article-title":"Outcome of first-trimester fetal abdominal cysts: Cohort study and review of the literature","volume":"43","author":"Khalil","year":"2014","journal-title":"Ultrasound Obstet. Gynecol."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"70","DOI":"10.1002\/(SICI)1096-9926(199802)57:2<70::AID-TERA5>3.0.CO;2-A","article-title":"Normal and abnormal embryonic development of the anorectum in human embryos","volume":"57","author":"Nievelstein","year":"1998","journal-title":"Teratol."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"124","DOI":"10.1055\/s-2001-13791","article-title":"Anatomical and Sonographical Studies on the Development of Fecal Continence and Sphincter Development in Human Fetuses","volume":"11","author":"Bourdelat","year":"2001","journal-title":"Eur. J. Pediatr. Surg."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"341","DOI":"10.1002\/uog.2852","article-title":"Echogenic foci in the dilated fetal colon may be associated with the presence of a rectourinary fistula","volume":"28","author":"Henrich","year":"2006","journal-title":"Ultrasound Obstet. Gynecol."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"1285","DOI":"10.7863\/ultra.15.08056","article-title":"Sonographic Determination of Type in a Fetal Imperforate Anus","volume":"35","author":"Lee","year":"2016","journal-title":"J. Ultrasound Med."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"1501","DOI":"10.1002\/jum.14836","article-title":"Prenatal Evaluation for Detection of Anorectal Atresia: Value of Ultrasound","volume":"38","author":"Su","year":"2018","journal-title":"J. Ultrasound Med."},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1186\/1750-1172-6-25","article-title":"Parental risk factors and anorectal malformations: Systematic review and meta-analysis","volume":"6","author":"Zwink","year":"2011","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"1331","DOI":"10.1016\/j.fertnstert.2012.02.053","article-title":"Birth defects in children conceived by in vitro fertilization and intracytoplasmic sperm injection: A meta-analysis","volume":"97","author":"Wen","year":"2012","journal-title":"Fertil. Steril."},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"382","DOI":"10.1002\/bdrc.21068","article-title":"Genetic and nongenetic etiology of nonsyndromic anorectal malformations: A systematic review","volume":"102","author":"Wijers","year":"2014","journal-title":"Birth Defects Res. Part C Embryo Today Rev."},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"1307","DOI":"10.1002\/pd.4472","article-title":"More than a gut feeling: Sonographic prenatal diagnosis of imperforateanus in a high-risk population","volume":"34","author":"Perlman","year":"2014","journal-title":"Prenat. Diagn."}],"container-title":["Medicina"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/1648-9144\/56\/11\/583\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T10:27:03Z","timestamp":1760178423000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/1648-9144\/56\/11\/583"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,10,30]]},"references-count":33,"journal-issue":{"issue":"11","published-online":{"date-parts":[[2020,11]]}},"alternative-id":["medicina56110583"],"URL":"https:\/\/doi.org\/10.3390\/medicina56110583","relation":{},"ISSN":["1648-9144"],"issn-type":[{"type":"electronic","value":"1648-9144"}],"subject":[],"published":{"date-parts":[[2020,10,30]]}}}