Journal of Fetal Medicine最新文献

{"title":"A Rare Case of Microduplication on Chromosome 13 Detected as High Risk for Trisomy 13 on NIPT Screening","authors":"S. Murarka, U. Kotecha, Dirgha Pamnani, Parth Shah, S. Sharda","doi":"10.1055/s-0043-57251","DOIUrl":"https://doi.org/10.1055/s-0043-57251","url":null,"abstract":"Abstract Noninvasive prenatal testing (NIPT) has revolutionized the screening methods for fetal chromosomal aneuploidies with high utility for aneuploidies for common chromosomes 13,18, 21, X and Y. Trisomy 13 is often associated with major and minor fetal malformations and can be screened by antenatal fetal scan and first- and second-trimester biochemical screening. We describe a case with high risk for trisomy 13 on NIPT, but without any fetal abnormalities on fetal scan. As recommended, follow-up invasive testing of amniotic fluid by chromosomal microarray detected a microduplication on chromosome 13, which has been associated with congenital microcoria. This case demonstrates the high sensitivity and clinical utility of NIPT in detecting rare copy number variations, which can assist families in making informed reproductive decisions. This also emphasizes that all screen positive NIPT cases should be confirmed with an appropriate diagnostic test by an invasive method.","PeriodicalId":42412,"journal":{"name":"Journal of Fetal Medicine","volume":"10 1","pages":"049 - 051"},"PeriodicalIF":0.2,"publicationDate":"2023-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42935869","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Correlation of Cervical Length, Anterior Uterocervical Angle, and Cervical Elastography with the Incidence of Preterm Labor","authors":"Suma Natarajan, Ezhilmathi Alavandar, Ravindar Kashyap, Saira Rajan, Dhivakar Muthusamy, Amuthavalli Subramani","doi":"10.1055/s-0043-57000","DOIUrl":"https://doi.org/10.1055/s-0043-57000","url":null,"abstract":"Abstract Objectives  The aim of this study is to find the correlation of cervical length, anterior uterocervical angle, and cervical elastography with the incidence of preterm labor through evaluation by transvaginal ultrasonography during routine anomaly scan and to analyze the correlation of the parameters with each other. Methods  Cross-sectional comparative study was undertaken on singleton pregnant women coming for anomaly scan between 18 and 24 weeks. Cervical length and anterior uterocervical angle were measured in the mid-sagittal section. Strain elastography was used for measuring cervical strain. Color map was obtained for the entire cervix and the color code for the degree of cervical stiffness was noted. Results  Though the mean value of cervical length was significantly lower in preterm group (3.2 cm) than in term group (3.6 cm), it was more than the cutoff value of 2.5 cm, below which it is routinely considered as short cervix indicative of preterm labor. Mean value of anterior uterocervical angle was significantly higher in women with preterm (112.3 degrees) delivery than those with term (82.2 degrees) delivery. Mean strain values of cervical elastography were significantly different in term (0.130) and preterm groups (0.179). Color code in elastography was independent of preterm labor. There was a significant positive correlation of cervical length with gestational age at delivery (GAD). A significant negative correlation was observed between acute anterior uterocervical angle with the GAD. Conclusion  Anterior uterocervical angle has a definitive role in the prediction of preterm labor and so it can be combined with the conventional cervical length screening in identifying women with normal cervical length who are at high risk of preterm labor. Cervical elastography assesses the cervical consistency and also has the potential for identifying high-risk women.","PeriodicalId":42412,"journal":{"name":"Journal of Fetal Medicine","volume":"10 1","pages":"016 - 022"},"PeriodicalIF":0.2,"publicationDate":"2023-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41672191","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Knowledge and Attitude of Young Married Women Regarding Congenital Anomalies in the Fetus: A Cross-Sectional Questionnaire-Based Study from South-Central India","authors":"M. Mangla, K. S. Sree, Naina Kumar, Meely Panda","doi":"10.1055/s-0043-56999","DOIUrl":"https://doi.org/10.1055/s-0043-56999","url":null,"abstract":"Abstract Background  Although congenital anomalies are a significant cause of neonatal mortality and morbidity in both developed and developing countries, middle- and low-income countries, including India, account for approximately 95% of all children born with congenital anomalies. Some birth defects/congenital anomalies are preventable, if their risk factors are modified. Young married women must have a good knowledge regarding these preventable risk factors because this is the population who will be bearing children in the near future. Therefore, this study aims to determine the knowledge and attitude of young married women regarding congenital anomalies/ birth defects, their risk factors, preventive measures, and treatment options available. Materials and Methods  An analytical cross-sectional study was conducted in a tertiary care center in South-Central, India, for over 1 year. Five hundred young married women (range: 18–30 years) answered a questionnaire, mainly focusing on what are birth defects, what are their risk factors and preventive strategies against them. It also included questions on how birth defects are diagnosed, and if carrying a baby with birth defects, what they would do for their management and also their knowledge regarding fetal medicine centers and fetal medicine specialists. Results  The mean knowledge score of the study participants was 18 ± 4.08 (range: 8–27). About 82.8% of the study participants had average knowledge regarding birth defects, and only 17.2% had good and adequate knowledge scores. The knowledge regarding risk factors is grossly inadequate. The knowledge regarding advanced maternal age, maternal obesity, and consanguinity as risk factors for congenital anomalies was deficient in more than 50% of the study population. The mean attitude score was 4.42 + 0.985 (range: 1–7), indicating overall positive attitudes. Conclusion  Knowledge regarding birth defects, their risk factors, and preventive strategies was moderate in the majority of the study participants. Education has some bearing on the knowledge and attitude, but the knowledge base still seems to be influenced by religious beliefs. Awareness campaigns to increase the knowledge about preventable causes of birth defects and their management strategies are urgently needed in this region.","PeriodicalId":42412,"journal":{"name":"Journal of Fetal Medicine","volume":"10 1","pages":"029 - 035"},"PeriodicalIF":0.2,"publicationDate":"2023-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46831138","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Prenatal Diagnosis and Fetal Sonographic Features of Swyer Syndrome","authors":"Daniel T. Kane, Mark A. Dempsey, Annette L. Burke, John J. Morrison","doi":"10.1055/s-0043-57035","DOIUrl":"https://doi.org/10.1055/s-0043-57035","url":null,"abstract":"Abstract Swyer syndrome, also known as complete gonadal dysgenesis, is characterized by an individual who has an XY karyotype but is phenotypically female. It is typically diagnosed in adolescence after investigations for primary amenorrhea. The estimated prevalence is 1 in 20,000 to 80,000 births. Mutations in the DNA-binding region of the SRY gene account for approximately 15 to 20% of cases, with the remaining cases caused by other gene mutations. There are no reports of the established diagnosis of Swyer syndrome prenatally, or of the sonographic features that may be associated with it. This report outlines the details of a 33-year-old primigravida in whom a fetal cystic hygroma was noted on ultrasound at 12 weeks gestation. Chorionic villous sampling revealed a diagnosis of fetal Swyer syndrome. The fetus progressed to develop severe fetal hydrops and a parental decision for termination of pregnancy was made at 15 weeks of gestation.","PeriodicalId":42412,"journal":{"name":"Journal of Fetal Medicine","volume":"10 1","pages":"036 - 039"},"PeriodicalIF":0.2,"publicationDate":"2023-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41415605","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Congenital Cataract and Narrow CSP: A Clue to Prenatal Diagnosis of RAB3GAP1 -Associated Warburg Micro Syndrome","authors":"M. Lallar, L. Kaur, M. Preet, U. Singh","doi":"10.1055/s-0043-57022","DOIUrl":"https://doi.org/10.1055/s-0043-57022","url":null,"abstract":"Abstract Warburg Micro Syndrome (WMS) is an autosomal recessive disorder characterized by intellectual disability, bilateral congenital cataracts, microphthalmia, and brain anomalies. We report an 18-week fetus presenting with bilateral congenital cataract and narrow cavum septum pellucidum. Patient was counselled about the possible etiologies ranging from infectious to chromosomal and single gene etiologies. Invasive testing for genetic analysis was done to determine etiology and establish prognosis. A previously reported homozygous frameshift mutation was identified in RAB3GAP1 gene leading to diagnosis of WMS. This case highlights the role of detailed fetal sonography and genetic testing to prognosticate pregnancies. Also WMS should be suspected in fetuses presenting with bilateral congenital cataract with or without brain anomalies.","PeriodicalId":42412,"journal":{"name":"Journal of Fetal Medicine","volume":"10 1","pages":"046 - 048"},"PeriodicalIF":0.2,"publicationDate":"2023-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44666421","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Practical Applications of Chromosomal Microarray in Prenatal Diagnosis","authors":"S. Thakur, C. Singh, P. Paliwal, Ghazala Shahnaaz, S. Dagar, Manish Mallik, Puneet Jain, Vineet Sethia","doi":"10.1055/s-0043-57021","DOIUrl":"https://doi.org/10.1055/s-0043-57021","url":null,"abstract":"Abstract G-banded karyotyping is the most common approach for the detection of genomic alterations. However, this is unable to detect genomic changes of less than 5 Mb. The ability of fluorescence in situ hybridization (FISH) to detect cryptic chromosomal rearrangements exceeds the resolution of routine karyotype. However, conventional FISH is for targeted regions only, whereas the chromosomal microarray is a whole-genome copy number evaluation technique with a resolution of 10 to 20 kb. In this article, we discuss the application of chromosomal microarray 750 K to 384 consecutive prenatal diagnosis cases. Overall diagnostic yield is 15.36%, and chromosomal microarray accounts for a 3.6% additional detection rate. We suggest applying this technique in routine prenatal diagnosis as a first-tier test in prenatal diagnosis along with a backup culture in all cases.","PeriodicalId":42412,"journal":{"name":"Journal of Fetal Medicine","volume":"10 1","pages":"023 - 028"},"PeriodicalIF":0.2,"publicationDate":"2023-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44090637","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Enlarged Intracranial Translucency, as a Potential Marker for Diagnosis of Joubert Syndrome during First-Trimester Screening: A Case Report","authors":"H. Verma, B. Patel, N. Patel, Saumil B. Patel","doi":"10.1055/s-0043-57039","DOIUrl":"https://doi.org/10.1055/s-0043-57039","url":null,"abstract":"Abstract Joubert syndrome (JS) is a rare autosomal recessive neurodevelopmental disorder that is usually diagnosed late in pregnancy or postnatally based on a pathognomonic midbrain–hindbrain malformation seen on magnetic resonance imaging brain, which consists of the hypoplasia of the cerebellar vermis, thickened superior cerebellar peduncles, and a deepened interpeduncular fossa described as molar tooth sign. The recurrence rate of JS in the same family is high (25%). In the era of first-trimester anomaly scan, early diagnosis of fetal anomaly is of utmost importance. First-trimester screening or first-trimester scan that is performed from 11 to 13 weeks, 6 days plays an important role in early diagnosis of posterior fossa abnormalities like Blake's pouch cyst, Vermian hypoplasia, Dandy-Walker malformation, and JS and related disorders based on increased intracranial translucency thickness. Our case also shows that early diagnosis of JS can be done by an enlarged intracranial translucency.","PeriodicalId":42412,"journal":{"name":"Journal of Fetal Medicine","volume":"10 1","pages":"040 - 045"},"PeriodicalIF":0.2,"publicationDate":"2023-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46577867","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Comparative Study of Perinatal Outcome in Uncomplicated Monochorionic Diamniotic versus Dichorionic Diamniotic Twins at a Specialized Twin Clinic—A Prospective Study","authors":"Anusha Jakkidi, Arati Singh, Saritha Redishetty, Kamala Kavuri, Prathibha Reddy, Aditi Shah, Mounika Kachakayala, G. Kolar, S. Vavilala","doi":"10.1055/s-0043-57002","DOIUrl":"https://doi.org/10.1055/s-0043-57002","url":null,"abstract":"Abstract Background  Monochorionic twins have higher perinatal morbidity and mortality than dichorionic twins. However, there is conflicting data on outcomes of uncomplicated monochorionic twins. Purpose of the Study  The aim of this study is to compare the outcomes of apparently uncomplicated monochorionic twins to dichorionic twins. Methods  This is a prospective study conducted from August 2019 to December 2020 at a specialized twin clinic. All twins, whose chorionicity was determined before 14 weeks with two live fetuses at 24 weeks, were recruited. Complicated monochorionic diamniotic (MCDA) twins with twin-to-twin transfusion syndrome, twin anemia polycythemia syndrome, selective fetal growth restriction before 24 weeks and single or double fetal demise before 24 weeks were excluded. Other exclusion criteria were major congenital and chromosomal abnormalities, higher order multiples, monoamniotic twins, and twins with undetermined chorionicity antenatally. Both the groups were followed till delivery and neonates followed till 28 days. Maternal and neonatal outcomes were studied and compared. Results  One-hundred forty-eight mothers with dichorionic diamniotic (DCDA) and 74 with uncomplicated MCDA were studied. Mean gestational age at delivery was 35 weeks in both the groups. Maternal, fetal, and neonatal morbidities were similar in both, except early onset preeclampsia that was higher in the DCDA group. Prospective risk of stillbirth for DCDA and MCDA after 24 weeks was 1.35 and 4.05%, respectively. Prospective risk of stillbirth for DCDA and MCDA after 30 weeks was 1.49 and 0%, respectively. Conclusion  The maternal and perinatal outcomes in uncomplicated MCDA twins are similar to DCDA twins. Prospective risk of stillbirth after 30 weeks is extremely low. Hence, uncomplicated MCDA twins should not be delivered electively before 36 weeks.","PeriodicalId":42412,"journal":{"name":"Journal of Fetal Medicine","volume":"10 1","pages":"001 - 008"},"PeriodicalIF":0.2,"publicationDate":"2023-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45656182","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Impact of Isolated Increased Nuchal Translucency ≥95th Centile on Perinatal Outcome: A Prospective Cohort Study from a North Indian Genetic Center","authors":"Sangeeta Khatter, M. Lall, S. Agrawal, Sunita Bijarnia Mahay, Nandita Dimri, Nidhish Sharma, Kanwal Gujral, I. Verma, R. Puri","doi":"10.1055/s-0043-57001","DOIUrl":"https://doi.org/10.1055/s-0043-57001","url":null,"abstract":"Abstract Objectives  The aim of this study was to determine the chromosomal abnormalities and other adverse outcomes like miscarriages, intrauterine deaths, structural defects, and genetic syndromes in fetuses with increased nuchal translucency (NT) more than or equal to 95th centile. This study also compared the outcomes in fetuses with NT between 95th and 99th centile and more than 99th centile. Study Design  A prospective cohort of 182 patients with isolated increased NT was evaluated by invasive testing. Fetal chromosomes were examined by fluorescent in situ hybridization and karyotype or chromosomal microarray. Euploid pregnancies were followed-up with level II ultrasound and fetal echocardiography. For pregnancies progressing to delivery, the neonates were followed-up till the age of 3 months. Final outcome was reported as normal or abnormal. Collated data for perinatal outcomes was analyzed and compared between fetuses with NT 95th and 99th centile (group I) and NT more than 99th centile (group II). Results  Of the 202 patients recruited, 182 patients consented for invasive testing and chromosomal analysis. Of the 182 patients, group I (NT 95–99th centile ) included 92 patients and group II 90 patients. Chromosomal abnormalities were present in 50 (27.4%), 14 (7.6%) in group I, and 36 (19.4%) in group II. Of the 132 euploid pregnancies, adverse outcomes were present in 22 (16%) fetuses, 7 (5.3%) in group I, and 15(11.7%) in group II. A normal outcome was present in 110 (60.4%) pregnancies of the 182 fetuses with NT more than or equal to 95th centile. Normal outcome observed in group I was 77.1% and in group II, it was 43.4%. Conclusion  An increased NT is associated with poor perinatal outcomes in 39.6% patients. Chromosomal analysis and follow-up for adverse outcome in fetuses with NT more than or equal to 95th centile is important to enable a take home neonatal rate of 60.4%. No pregnancy with increased NT should be discontinued without detailed fetal evaluation for genetic disorders, structural malformation, and fetal growth.","PeriodicalId":42412,"journal":{"name":"Journal of Fetal Medicine","volume":"10 1","pages":"009 - 015"},"PeriodicalIF":0.2,"publicationDate":"2023-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47355641","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Conjoined Twins: Unicephalus Non-Janiceps Tetrapus Tetrabrachius","authors":"Cem Yener, N. C. Sayın, Esra Altan, Füsun Varol","doi":"10.1007/s40556-022-00342-w","DOIUrl":"https://doi.org/10.1007/s40556-022-00342-w","url":null,"abstract":"","PeriodicalId":42412,"journal":{"name":"Journal of Fetal Medicine","volume":"09 1","pages":"71 - 74"},"PeriodicalIF":0.2,"publicationDate":"2022-05-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44125530","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}