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Traditional karyotyping may miss submicroscopic aberrations detectable by chromosomal microarray analysis (CMA). A 28-year-old primigravida at 29 weeks presented with polyhydramnios, fetal growth restriction, short nasal bone, and cardiac abnormalities suggestive of trisomy. CMA revealed a 21.58-megabase 7q31.1–q32.3 deletion. Postnatal care identified multiple congenital anomalies, respiratory distress, and feeding difficulties, emphasizing CMA’s diagnostic precision and the need to consider atypical genetic causes.",{"@graph":69,"@context":123},[70,84,106],{"@type":71,"itemListElement":72},"BreadcrumbList",[73,77,79,82],{"item":74,"name":75,"@type":76,"position":8},"https://docshare.wps.com","Home","ListItem",{"item":78,"name":9,"@type":76,"position":14},"https://docshare.wps.com/document/",{"item":80,"name":35,"@type":76,"position":81},"https://docshare.wps.com/document/healthcare/",3,{"item":83,"name":65,"@type":76,"position":19},"https://docshare.wps.com/document/hidden-in-plain-sight-a-rare-7q-deletion-masquerading-as-a-common-aneuploidy-on-prenatal-ultrasound/444891/",{"url":83,"name":65,"@type":85,"image":86,"author":91,"headline":65,"publisher":94,"fileFormat":97,"inLanguage":63,"description":67,"dateModified":98,"datePublished":99,"encodingFormat":97,"isAccessibleForFree":100,"interactionStatistic":101},"DigitalDocument",{"url":87,"@type":88,"width":89,"height":90},"https://docshare.wps.com/thumbnails/hidden-in-plain-sight-a-rare-7q-deletion-masquerading-as-a-common-aneuploidy-on-prenatal-ultrasound/444891.png","ImageObject",300,407,{"name":92,"@type":93},"pop out","Person",{"url":74,"name":95,"@type":96},"DocShare","Organization","application/pdf","2026-10-30","2026-09-29",true,{"@type":102,"interactionType":103,"userInteractionCount":105},"InteractionCounter",{"@type":104},"ViewAction",11,{"@type":107,"mainEntity":108},"FAQPage",[109,115,119],{"name":110,"@type":111,"acceptedAnswer":112},"Why can rare 7q microdeletions be missed during prenatal evaluation?","Question",{"text":113,"@type":114},"Because ultrasound features and clinical findings can mimic common aneuploidies, while traditional karyotyping may not detect submicroscopic aberrations. In this case, suspicion for trisomy was driven by overlapping prenatal ultrasound findings.","Answer",{"name":116,"@type":111,"acceptedAnswer":117},"What genetic result established the diagnosis in the case?",{"text":118,"@type":114},"Chromosomal microarray analysis (CMA) identified a 21.58-megabase deletion spanning 7q31.1–q32.3, confirming 7q31.1–q32.3 microdeletion syndrome.",{"name":120,"@type":111,"acceptedAnswer":121},"What outcomes were observed after delivery?",{"text":122,"@type":114},"The neonate developed respiratory distress requiring intensive care and was found to have multiple congenital heart findings, including atrial septal defect and patent ductus arteriosus, along with pulmonary artery stenosis, ventriculomegaly, and feeding difficulties.","https://schema.org",{"og:url":83,"og:type":125,"og:title":65,"og:site_name":95,"og:description":67},"article",{"robots":127,"canonical":83},"index,follow",{"doc_id":129,"site_id":62},444891,1790741009,{"code":4,"msg":5,"data":132},{"doc_id":129,"user_id":133,"nickname":92,"user_avatar":134,"doc_module":4,"category_id":34,"category_name":35,"doc_title":65,"doc_description":67,"doc_content":135,"file_id":136,"file_url":137,"file_type":138,"file_size":139,"view_count":105,"is_deleted":4,"is_public":8,"is_downloadable":8,"audit_status":8,"page_count":24,"language":140,"language_code":63,"site_id":62,"html_lang":63,"table_of_contents":141,"faqs":142,"seo_title":143,"seo_description":67,"update_tm":144,"read_time":145,"preview_page_count":4},962090760408,"https://ap-avatar.wpscdn.com/davatar_085a072bc5b1113ac321206ff7593b45","Review began 11/06/2025  \nReview ended 12/02/2025  \nPublished 12/06/2025  \n© Copyright 2025  \nAbang Abdullah et al. This is an open access article distributed under the terms of the Creative Commons Attribution License CC-BY 4.0. , which permits unrestricted use , distribution , and reproduction in any medium , provided the original author and source are credited.  \nDOI: 10.7759/cureus.98598  \nOpen Access Case Report  \nHidden in Plain Sight: A Rare 7q Deletion Masquerading as a Common Aneuploidy on Prenatal Ultrasound  \nZainab Hananah Abang Abdullah 1 , Mumtazah Mohd Alauddin 1 , Suziela Mohamad 2, Aisha Fadhilah Abang Abdullah 3 , Amilia Afzan Mohd Jamil 1  \n1. Obstetrics and Gynaecology, Faculty of Medicine and Health Sciences, Universiti Putra Malaysia, Serdang, MYS 2. Obstetrics and Gynaecology, Hospital Sultan Abdul Aziz Shah, Universiti Putra Malaysia, Serdang, MYS 3. Paediatrics, Faculty of Medicine and Health Sciences, Universiti Putra Malaysia, Serdang, MYS  \nCorresponding author: Zainab Hananah Abang Abdullah, [zainab_abang@upm.edu.my](zainab_abang@upm.edu.my)  \nAbstract  \nPrenatal diagnosis of rare chromosomal microdeletions is challenging when fetal abnormalities mimic common aneuploidies. Traditional karyotyping may miss submicroscopic aberrations detectable by chromosomal microarray analysis (CMA) . We report a case of 7q31.1-q32.3 microdeletion syndrome identified through CMA, highlighting its diagnostic value. A 28-year-old primigravida at 29 weeks presented with polyhydramnios, fetal growth restriction, short nasal bone, and cardiac abnormalities suggestive of trisomy. CMA revealed a 21.58-megabase deletion at 7q31.1-q32.3. She delivered at 37 weeks by cesarean section. The neonate developed respiratory distress requiring intensive care and was found to have an atrial septal defect, patent ductus arteriosus, pulmonary artery stenosis, ventriculomegaly, and feeding difficulties. This case demonstrates that prenatal ultrasound features suggestive of common aneuploidies may instead arise from other, less common genetic abnormalities. CMA offers superior diagnostic precision and should be considered in atypical prenatal presentations resembling aneuploidy.  \nCategories: Obstetrics/Gynecology, Genetics, Pediatrics  \nKeywords: 7q deletion, chromosomal microarray analysis, fetal growth restriction, prenatal diagnosis, ultrasound  \nIntroduction  \nPrenatal diagnosis has evolved significantly with the introduction of advanced cytogenetic techniques.  \nTraditional karyotyping, while effective for detecting major chromosomal abnormalities and common aneuploidies such as trisomy 21, 18, and 13, has limitations in identifying submicroscopic chromosomal aberrations [1] . Chromosomal microarray analysis (CMA) has improved prenatal diagnostics by identifying clinically relevant microdeletions and microduplications at 50-100 kb resolution, far surpassing  \nconventional karyotyping [2] .  \nThe clinical challenge arises when fetal ultrasound abnormalities suggest common aneuploidies, but standard screening tests yield normal results. In such cases, the underlying pathology may involve rare microdeletion or microduplication syndromes that present with overlapping phenotypic features. The 7q deletion syndrome, particularly involving the 7q31-q32 region, represents one such rare chromosomal disorder that can present with features resembling more common genetic conditions [3] .  \nWe present a case of prenatal diagnosis of 7q31.1-q32.3 microdeletion syndrome identified through CMA, highlighting the diagnostic superiority of this technique over conventional karyotyping and emphasizing its importance in contemporary prenatal care when common fetal structural abnormalities are detected.  \nCase Presentation  \nA 28-year-old primigravida was referred at 29 weeks of gestation after routine ultrasonography revealed multiple fetal anomalies. Her medical, antenatal, and family histories were unremarkable for genetic conditions. Ultrasound demon","cbCaiuwkpjWJKBsO","https://ap.wps.com/l/cbCaiuwkpjWJKBsO","pdf",1952662,"English","# Abstract\n# Introduction\n# Case Presentation\n## Antenatal findings\n## CMA results\n## Delivery and neonatal outcomes","[{\"question\":\"Why can rare 7q microdeletions be missed during prenatal evaluation?\",\"answer\":\"Because ultrasound features and clinical findings can mimic common aneuploidies, while traditional karyotyping may not detect submicroscopic aberrations. In this case, suspicion for trisomy was driven by overlapping prenatal ultrasound findings.\"},{\"question\":\"What genetic result established the diagnosis in the case?\",\"answer\":\"Chromosomal microarray analysis (CMA) identified a 21.58-megabase deletion spanning 7q31.1–q32.3, confirming 7q31.1–q32.3 microdeletion syndrome.\"},{\"question\":\"What outcomes were observed after delivery?\",\"answer\":\"The neonate developed respiratory distress requiring intensive care and was found to have multiple congenital heart findings, including atrial septal defect and patent ductus arteriosus, along with pulmonary artery stenosis, ventriculomegaly, and feeding difficulties.\"}]","Hidden in Plain Sight: A Rare 7q Deletion Masquerading as a Common Aneuploidy on Prenatal Ultrasound | PDF",1790709639,13]