{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,1]],"date-time":"2026-06-01T04:01:56Z","timestamp":1780286516825,"version":"3.54.0"},"reference-count":27,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2026,3,6]],"date-time":"2026-03-06T00:00:00Z","timestamp":1772755200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,3,6]],"date-time":"2026-03-06T00:00:00Z","timestamp":1772755200000},"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"],"published-print":{"date-parts":[[2026,4]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>To report incontinentia pigmenti (IP) as an overlooked genetic etiology in three families with recurrent non\u2010immune hydrops fetalis (NIHF), and to highlight the necessity of phenotype\u2010driven targeted prenatal testing and multidisciplinary care in the next\u2010generation sequencing (NGS) era.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      Three unrelated families with recurrent male NIHF and negative chromosomal microarray analysis\/NGS results were investigated. Genetic counselors conducted detailed maternal history\u2010taking and physical examinations to identify subtle ectodermal features suggestive of IP. Targeted long\u2010range PCR and multiplex ligation\u2010dependent probe amplification (MLPA) were employed to bypass interference from the pseudogene\n                      <jats:italic>IKBKGP1<\/jats:italic>\n                      and detect\n                      <jats:italic>IKBKG<\/jats:italic>\n                      exon 4\u201310 deletions.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      All three mothers displayed subtle ectodermal features, including hypopigmented streaks, patchy alopecia, and dental anomalies. Genetic testing revealed heterozygous\n                      <jats:italic>IKBKG<\/jats:italic>\n                      exon 4\u201310 deletions in all 3 mothers, and a hemizygous deletion in the third affected male fetus of Family 3\u2014both missed by conventional short\u2010read NGS. Prenatal ultrasound consistently demonstrated increased nuchal translucency, cervical cystic hygroma, and generalized edema, serving as early indicators of IP\u2010related NIHF.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>Pseudogene\u2010aware molecular tools combined with maternal phenotyping are essential for uncovering hidden IP and reducing unexplained fetal loss in the NGS era.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/pd.70105","type":"journal-article","created":{"date-parts":[[2026,3,8]],"date-time":"2026-03-08T22:19:02Z","timestamp":1773008342000},"page":"573-580","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Recurrent Male Hydrops Fetalis Reveals Hidden Incontinentia Pigmenti: Lessons From Pseudogene\u2010Interfered Genomic Diagnosis"],"prefix":"10.1002","volume":"46","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0208-3802","authenticated-orcid":false,"given":"Chunge","family":"Cao","sequence":"first","affiliation":[{"name":"Department of Obstetrics Center of Fetal Medicine &amp; Intrauterine Pediatrics Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yao","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Fetal Medicine &amp; Prenatal Diagnosis Center Shanghai Key Laboratory of Maternal Fetal Medicine Shanghai First Maternity and Infant Hospital Tongji University School of Medicine  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yingjun","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Obstetrics Center of Fetal Medicine &amp; Intrauterine Pediatrics Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xing","family":"Wei","sequence":"additional","affiliation":[{"name":"Department of Obstetrics Center of Fetal Medicine &amp; Intrauterine Pediatrics Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luming","family":"Sun","sequence":"additional","affiliation":[{"name":"Department of Obstetrics Center of Fetal Medicine &amp; Intrauterine Pediatrics Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine  Shanghai China"},{"name":"Department of Fetal Medicine &amp; Prenatal Diagnosis Center Shanghai Key Laboratory of Maternal Fetal Medicine Shanghai First Maternity and Infant Hospital Tongji University School of Medicine  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,3,6]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2017.04.025"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.26063"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.1097\/fm9.0000000000000250"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajog.2014.12.018"},{"key":"e_1_2_12_6_1","doi-asserted-by":"publisher","DOI":"10.3390\/genes13122231"},{"key":"e_1_2_12_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.5691"},{"key":"e_1_2_12_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.6022"},{"key":"e_1_2_12_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.23652"},{"key":"e_1_2_12_10_1","doi-asserted-by":"publisher","DOI":"10.3390\/diagnostics15040465"},{"key":"e_1_2_12_11_1","doi-asserted-by":"publisher","DOI":"10.3390\/cancers13081751"},{"key":"e_1_2_12_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.xhgg.2025.100468"},{"key":"e_1_2_12_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jmoldx.2017.10.005"},{"key":"e_1_2_12_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/jdv.16403"},{"key":"e_1_2_12_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gendis.2025.101531"},{"key":"e_1_2_12_16_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023\u2010024\u201003480\u20108"},{"key":"e_1_2_12_17_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750\u20101172\u20109\u201093"},{"key":"e_1_2_12_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436\u2010020\u201000967\u20100"},{"key":"e_1_2_12_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.165"},{"key":"e_1_2_12_20_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.14.7.854"},{"key":"e_1_2_12_21_1","doi-asserted-by":"publisher","DOI":"10.3892\/mmr.2023.13147"},{"key":"e_1_2_12_22_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddr556"},{"key":"e_1_2_12_23_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2024.1374860"},{"key":"e_1_2_12_24_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22298"},{"key":"e_1_2_12_25_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41525\u2010024\u201000421\u2010z"},{"key":"e_1_2_12_26_1","doi-asserted-by":"publisher","DOI":"10.1155\/humu\/6657400"},{"key":"e_1_2_12_27_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2021.684067"},{"key":"e_1_2_12_28_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jmoldx.2025.10.001"}],"container-title":["Prenatal Diagnosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.70105","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/pd.70105","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.70105","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,6,1]],"date-time":"2026-06-01T03:46:20Z","timestamp":1780285580000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1002\/pd.70105"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,3,6]]},"references-count":27,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2026,4]]}},"alternative-id":["10.1002\/pd.70105"],"URL":"https:\/\/doi.org\/10.1002\/pd.70105","archive":["Portico"],"relation":{},"ISSN":["0197-3851","1097-0223"],"issn-type":[{"value":"0197-3851","type":"print"},{"value":"1097-0223","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,3,6]]},"assertion":[{"value":"2025-12-03","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-02-18","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-03-06","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}