{"title":"Feelings and thoughts about life selection in pregnant women undergoing non-invasive prenatal testing in Japan","authors":"Eri Takeda, Nobuhiro Suzumori, Kyoko Kumagai, Chisato Komata, Yumiko Nishimura, Mayumi Sugiura-Ogasawara","doi":"10.1111/cga.12586","DOIUrl":"10.1111/cga.12586","url":null,"abstract":"<p>The objective of this study was to conduct qualitative research by clarifying the thoughts of pregnant women undergoing non-invasive prenatal testing (NIPT) in Japan, to collect evidence to provide information and psychosocial support in genetic counseling (GC). We attempted to conduct qualitative research to provide support for GC and the society in relation to children with special needs, by clarifying the thoughts of pregnant women undergoing NIPT. Between January 2016 and December 2017, we administered an open-ended questionnaire to pregnant Japanese women undergoing NIPT to clarify their ethical views in relation to children with special needs. The target population included 754 pregnant women who described their feelings and thoughts about undergoing NIPT and about children with special needs. Pregnant women undergoing NIPT have a variety of various mixed feelings and concerns. We classified the feelings and thoughts of pregnant women who underwent NIPT into the following four primary categories (multiple classifications): (1) perception about people with special needs (18.0%); (2) relation between NIPT and life selection (22.3%); (3) attitudes towards undergoing NIPT (47.5%); and (4) negative feelings and thoughts about raising children with special needs (48.1%). Most pregnant women undergoing NIPT expressed negative feelings and raising children with special needs. These feelings and thoughts may be one of the reasons why pregnant women undergo NIPT. In GC, it is important to also provide wide information on the social support and the current situation in the actual life of children with special needs.</p>","PeriodicalId":10626,"journal":{"name":"Congenital Anomalies","volume":"65 1","pages":""},"PeriodicalIF":1.3,"publicationDate":"2024-11-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142717167","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Acoustic evaluation of voice signal distortion by videoconferencing platforms and devices used in telepractice for cleft palate","authors":"Shiho Tajiri, Shunsuke Hidaka, Shuhei Takehisa, Sachiyo Hasegawa, Yukiko Ohyama, Tomohiro Yamada","doi":"10.1111/cga.12584","DOIUrl":"10.1111/cga.12584","url":null,"abstract":"<p>The usefulness and effectiveness of telepractice have been reported in recent years. Treatment of cleft palate patients with compensatory articulation is based on perceptual identification. Telepractice using videoconferencing platforms causes voice signal distortion and impacts auditory-perceptual perception. This study aimed acoustically examine voice signal distortion and determine the optimal videoconferencing platforms, in addition to the phonemes that can be discriminated with the same quality as in face-to-face interactions. ATR503 with 50 phoneme-balanced Japanese speech sentences was used as a reference corpus. Four videoconferencing platforms, —Zoom, Cisco Webex, Skype, and Google Meet, —and five devices, —iPhone, Android, iPad Air, Windows, and MacBook Pro were used as transmission conditions to examine voice signal distortions with the objective measure log-spectral distortion (LSD). Tukey's test was conducted to evaluate the degree of consonant distortion related to voicings (voiceless and voiced), places of articulation (bilabial, alveolar, alveolo-palatal, palatal, velar, labial-velar, and glottal), and manners of articulation (plosive, fricative, affricate, tap or flap, nasal, and approximant). With statistically significant differences, voiced, bilabial, labial-velar, nasal, and plosive consonants exhibited smaller distortions. In contrast, voiceless, alveolo-palatal, fricative, and affricate consonants exhibited larger distortions. Google Meet exhibited the lowest distortion among videoconferencing platforms and MacBook exhibited the lowest distortion among devices. This study provides significant insights into the telepractice strategies with the appropriate videoconferencing platform and device, and useful settings for cleft palate patients with compensatory articulations with respect to acoustics.</p>","PeriodicalId":10626,"journal":{"name":"Congenital Anomalies","volume":"64 6","pages":"242-253"},"PeriodicalIF":1.3,"publicationDate":"2024-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/cga.12584","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142395950","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Sayu Omori-Shimano, Kazushige Ikeda, Jun Miyauchi, Maki Fukami
{"title":"Genitourinary and craniofacial/cervicothoracic anomalies in a neonate with in-utero mycophenolate mofetil exposure","authors":"Sayu Omori-Shimano, Kazushige Ikeda, Jun Miyauchi, Maki Fukami","doi":"10.1111/cga.12583","DOIUrl":"10.1111/cga.12583","url":null,"abstract":"","PeriodicalId":10626,"journal":{"name":"Congenital Anomalies","volume":"64 6","pages":"257-259"},"PeriodicalIF":1.3,"publicationDate":"2024-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142303410","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Layah Alkoby-Meshulam, Jacob Amir, Daniel Lubin, Gil Klinger, Giora Guttesman, Samuel Zangen, Efraim Bilavsky
{"title":"Congenital cytomegalovirus and pulmonary hypertension","authors":"Layah Alkoby-Meshulam, Jacob Amir, Daniel Lubin, Gil Klinger, Giora Guttesman, Samuel Zangen, Efraim Bilavsky","doi":"10.1111/cga.12580","DOIUrl":"10.1111/cga.12580","url":null,"abstract":"<p>Lung involvement in children with congenital cytomegalovirus infection has been scarcely described. We describe three new cases of persistent pulmonary hypertension in children with congenital cytomegalovirus and review the other seven cases reported in the literature since 1988. All children had a symptomatic infection, including severe central nervous system or visceral findings. Morbidity and mortality were high. Persistent pulmonary hypertension may be a rare complication in severely symptomatic congenital cytomegalovirus infants. It is important to screen for congenital cytomegalovirus in cases of idiopathic refractory persistent pulmonary hypertension. Intensive treatment should be undertaken to treat this potentially rare lung involvement in combination with antiviral treatment.</p>","PeriodicalId":10626,"journal":{"name":"Congenital Anomalies","volume":"64 6","pages":"235-241"},"PeriodicalIF":1.3,"publicationDate":"2024-09-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142127659","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Toshio Okamoto, Ken Nagaya, Mitsumaro Nii, Satoru Takahashi
{"title":"Non-progressive hepatic tumor with high levels of serum alpha-fetoprotein in two infants with trisomy 18","authors":"Toshio Okamoto, Ken Nagaya, Mitsumaro Nii, Satoru Takahashi","doi":"10.1111/cga.12582","DOIUrl":"10.1111/cga.12582","url":null,"abstract":"","PeriodicalId":10626,"journal":{"name":"Congenital Anomalies","volume":"64 6","pages":"254-256"},"PeriodicalIF":1.3,"publicationDate":"2024-08-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142115998","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Areeba Fareed, Dima Siblini, Rayyan Vaid, Hadi Farhat, Ahmad Rida, Abdulrahmon Moradeyo, Muhammad Ahsan Khan
{"title":"Montelukast use in pregnancy: A systematic review and meta-analysis of maternal and fetal outcomes in asthma treatment","authors":"Areeba Fareed, Dima Siblini, Rayyan Vaid, Hadi Farhat, Ahmad Rida, Abdulrahmon Moradeyo, Muhammad Ahsan Khan","doi":"10.1111/cga.12581","DOIUrl":"10.1111/cga.12581","url":null,"abstract":"<p>This systematic review and meta-analysis evaluated the safety of montelukast in treating asthma during pregnancy, focusing on maternal and fetal outcomes such as congenital anomalies (CA), preterm delivery, low birthweight, spontaneous abortion, gestational diabetes mellitus, and preeclampsia. A comprehensive literature search was conducted in Google Scholar, PubMed, and the Cochrane Library databases from inception until April 30, 2024. The eligible studies assessed the safety of montelukast for asthma treatment during pregnancy. The review suggests that montelukast use during pregnancy may not significantly increase the risk of major CA. The pooled results yielded risk ratio (RR) for CA was 1.13 [95% CI (0.74, 1.73), <i>p</i> = 0.56, <i>I</i><sup>2</sup> = 0%]. Montelukast may be associated with preterm delivery and a low birthweight odds ratio (OR) of 1.82 [95% CI (1.35, 2.45), <i>p</i> < 0.001, <i>I</i><sup>2</sup> = 0%]. No significant risks were found concerning neurodevelopmental outcomes. The associations with spontaneous abortion were inconclusive [OR = 1.03, 95% CI (0.72, 1.5), <i>p</i> = 0.86, <i>I</i><sup>2</sup> = 73%], highlighting the need for further research. This comprehensive review underscores the importance of further investigating the safety profile of montelukast during pregnancy. While the overall findings indicate a relatively favorable safety profile, especially regarding major CA, careful consideration is needed for the potential risks of preterm delivery and low birthweight.</p>","PeriodicalId":10626,"journal":{"name":"Congenital Anomalies","volume":"64 6","pages":"220-227"},"PeriodicalIF":1.3,"publicationDate":"2024-08-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141918346","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"A safety signal for congenital strabismus associated with valproic acid: A pharmacovigilance analysis utilizing the FDA Adverse Event Reporting System database","authors":"Yuichi Uwai, Tomohiro Nabekura","doi":"10.1111/cga.12579","DOIUrl":"10.1111/cga.12579","url":null,"abstract":"<p>This pharmacovigilance study investigated the relationship between antiepileptic drugs and congenital strabismus, utilizing the FDA Adverse Event Report System database between 2014 and 2023. Out of 28 347 889 reports of adverse events in 10 937 764 cases, we identified 1104 reports of strabismus and 67 of congenital strabismus. Valproic acid was the most frequently implicated primary suspect drug (95 and 14 cases, respectively). Ninety-five reports involved transplacental valproic acid exposure, yielding an information component (IC) of 7.06 (IC-2 × standard deviation: 5.50). A multivariate analysis showed that transplacental exposure to valproic acid correlated with strabismus (adjusted odds ratio: 8.47, 95% CI: 6.74–10.65). We revealed a robust safety signal linking valproic acid to congenital strabismus.</p>","PeriodicalId":10626,"journal":{"name":"Congenital Anomalies","volume":"64 5","pages":"207-214"},"PeriodicalIF":1.3,"publicationDate":"2024-07-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141857420","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Congenital three generation wide familial non-syndromic polydactyly","authors":"Özgür Agdoğan","doi":"10.1111/cga.12578","DOIUrl":"10.1111/cga.12578","url":null,"abstract":"<p>Polydactyly is typically observed as isolated and sporadic occurrences, although familial cases do exist, albeit with lower frequency, manifesting in various inheritance patterns. In around 30% of polydactyly cases, there exists a familial history, suggesting the probable involvement of a single gene. Given its potential for hereditary transmission, thorough investigation of the patients' parents, first-degree relatives, grandparents, and even great-grandparents for similar disorders becomes imperative. In our clinic, we conducted an analysis focusing on patients presenting with foot polydactyly, along with occurrences of polydactyly among their first- and second-degree relatives spanning two to three generations of family history. The study encompassed three patients and their respective families, including a pair of siblings. We speculate that the inheritance type in our cases was autosomal dominant. Among our patients, one presented with central polydactyly, while the remaining patients and all familial cases displayed postaxial polydactyly. In terms of morphologic classification, one patient had a Y-shaped metatarsal, another had a T-shaped metatarsal, and the third patient exhibited a duplicated ray-shaped anomaly. In our review of the literature, we haven't come across a case spanning three generations like the ones we encountered. Additionally, the presence of a transverse accessory extensor tendon between both extensor tendons in cases with T- and Y-shaped metatarsals intrigued us from an anatomical perspective. Our goal is to present these rare cases of congenital familial polydactyly spanning three generations, highlighting the anatomical variations observed and aiming to contribute to the existing body of literature on the subject.</p>","PeriodicalId":10626,"journal":{"name":"Congenital Anomalies","volume":"64 6","pages":"228-234"},"PeriodicalIF":1.3,"publicationDate":"2024-07-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141545648","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Pregnancy outcomes after first-trimester exposure to fluoroquinolones: Findings based on an integrated database from two Japanese institutions","authors":"Mikako Goto, Tatsuhiko Anzai, Ritsuko Yamane, Naho Yakuwa, Kunihiko Takahashi, Atsuko Murashima","doi":"10.1111/cga.12577","DOIUrl":"10.1111/cga.12577","url":null,"abstract":"<p>Given the paucity of safety data on fluoroquinolone antibiotics in pregnancy, a prospective observational cohort study was conducted in pregnant women who sought help and advice on drug use at two teratology information institutes in Japan. The primary endpoint of the study was the incidence of major congenital anomalies. The study population included pregnant women exposed to (i) fluoroquinolones (fluoroquinolone group), (ii) β-lactams (infectious control group), or (iii) other agents considered to be nonteratogenic in humans (nonteratogenic control group) during the first trimester. The frequency of major congenital anomalies was compared across groups using a logistic regression model that adjusted for maternal age, smoking status, drinking status, facility consulted, and time of consultation. The fluoroquinolone group consisted of 411 women who had 383 children born alive. The infectious control and nonteratogenic control groups consisted of 1416 and 1482 women who had 1322 and 1401 children born alive, respectively. The incidence of major congenital anomalies was 1.5%, 2.0%, and 1.6% in the fluoroquinolone group, infectious control, and nonteratogenic control groups, respectively. Logistic regression showed that fluoroquinolone exposure is not a significant risk factor for major congenital anomalies. In conclusion, first-trimester exposure to fluoroquinolone antibiotics was not associated with increased maternal or fetal risks.</p>","PeriodicalId":10626,"journal":{"name":"Congenital Anomalies","volume":"64 5","pages":"199-206"},"PeriodicalIF":1.3,"publicationDate":"2024-06-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/cga.12577","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141473642","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}