{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T01:00:15Z","timestamp":1790470815754,"version":"4.1.0"},"reference-count":39,"publisher":"Wiley","license":[{"start":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T00:00:00Z","timestamp":1790380800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T00:00:00Z","timestamp":1790380800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Prenatal Diagnosis"],"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>\n                      Multiple acyl\u2010CoA dehydrogenase deficiency (MADD) is caused by variants in the\n                      <jats:italic>ETFA<\/jats:italic>\n                      ,\n                      <jats:italic>ETFB<\/jats:italic>\n                      or\n                      <jats:italic>ETFDH<\/jats:italic>\n                      genes. MADD type 1, the most severe phenotype, presents antenatally with congenital anomalies and, commonly, renal cystic anomalies. We describe four prenatal cases with MADD\u2010related genetic findings, detailed ultrasound findings, and outcomes.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>This is a retrospective case series presenting the MADD cases detected with associated fetal renal anomalies. The spectrum of congenital anomalies associated with MADD in the brain, heart, and urinary system is documented. Disease\u2010causing genetic variants are described. Genotype\u2010phenotype correlations for the variants are also discussed.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Of 32 cases with prenatally detected renal anomalies who underwent prenatal testing, four cases had MADD\u2010related genetic findings. In these four cases, three unique variants were reported (one missense variant of uncertain significance and two likely pathogenic frameshift variants). Additional findings seen in our cohort included a double\u2010outlet right ventricle in one case and bilateral megaureters in another. Prenatal diagnosis of MADD proved beneficial for one couple (case 1) in a subsequent pregnancy.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>MADD is an important monogenic cause to consider for prenatal renal anomalies. These cases exemplify the importance of including this disorder when planning prenatal genetic testing for renal cystic anomalies.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/pd.70254","type":"journal-article","created":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T00:37:38Z","timestamp":1790469458000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Considering Multiple Acyl\u2010CoA Dehydrogenase Deficiency (MADD) in Prenatal Genetic Assessment of Cystic Renal Anomalies"],"prefix":"10.1002","author":[{"ORCID":"https:\/\/orcid.org\/0009-0009-9000-442X","authenticated-orcid":false,"given":"Noel Deep","family":"Luke","sequence":"first","affiliation":[{"name":"Department of Medical Genetics Christian Medical College  Vellore Tamil Nadu India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0000-8620-0860","authenticated-orcid":false,"given":"Lois Sara","family":"James","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Christian Medical College  Vellore Tamil Nadu India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6836-3890","authenticated-orcid":false,"given":"Manisha Madhai","family":"Beck","sequence":"additional","affiliation":[{"name":"Fetal Medicine Unit Department of Obstetrics and Gynaecology Christian Medical College  Vellore Tamil Nadu India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4220-0097","authenticated-orcid":false,"given":"Preethi Raja","family":"Navaneethan","sequence":"additional","affiliation":[{"name":"Fetal Medicine Unit Department of Obstetrics and Gynaecology Christian Medical College  Vellore Tamil Nadu India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6376-8071","authenticated-orcid":false,"given":"Rekha","family":"Aaron","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Christian Medical College  Vellore Tamil Nadu India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8973-370X","authenticated-orcid":false,"given":"Sumita","family":"Danda","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Christian Medical College  Vellore Tamil Nadu India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,9,26]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bpobgyn.2014.01.009"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.1055\/s\u20100035\u20101558423"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.1097\/MOP.0b013e32834fdbd4"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.5536"},{"key":"e_1_2_12_6_1","doi-asserted-by":"publisher","DOI":"10.2214\/AJR.11.8083"},{"key":"e_1_2_12_7_1","doi-asserted-by":"publisher","DOI":"10.3389\/fped.2017.00221"},{"key":"e_1_2_12_8_1","unstructured":"India National Family Health Survey [FR375] 2019\u201021 accessed December 4 2025 https:\/\/dhsprogram.com\/pubs\/pdf\/FR375\/FR375.pdf."},{"key":"e_1_2_12_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.6815"},{"key":"e_1_2_12_10_1","doi-asserted-by":"crossref","first-page":"1250","DOI":"10.1016\/B978-0-323-40139-5.00087-5","volume-title":"Avery\u2019s Diseases of the Newborn","author":"Engen R.","year":"2018"},{"key":"e_1_2_12_11_1","unstructured":"Multiple Acyl\u2010CoA Dehydrogenase Deficiency\u2014GeneReviews\u00ae\u2014NCBI Bookshelf accessed September 20 2024 https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK558236\/."},{"key":"e_1_2_12_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545\u2010016\u20109992\u20103"},{"key":"e_1_2_12_13_1","unstructured":"Defects of Electron Transfer Flavoprotein and Electron Transfer Flavoprotein\u2010Ubiquinone Oxidoreductase: Glutaric Acidemia Type II. 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