Prenatal Detection of Silver–Russell Syndrome: A First Trimester Suspicion and Diagnostic Approach by Slavyana Galeva, Giuliana Diglio, Boris Stoilov, Ekaterina Uchikova, Lucian Pop

“…A further evaluation, including amniocentesis and genetic testing, was performed. <i>Results:</i> Genetic testing identified hypomethylation at the 11p15 imprinting control region, confirming the diagnosis of SRS. …”
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Novel Mutation in the PKHD1 Gene Diagnosed Prenatally in a Fetus with Autosomal Recessive Polycystic Kidney Disease by Pankaj Thakur, Paul Speer, Aleksandar Rajkovic

“…Progressive oligohydramnios was not evident until 29 weeks of gestation, with anhydramnios noted by 35 weeks of gestation. Amniocentesis was performed for karyotype and to search for mutations in the PKHD1 for the presumptive diagnosis of autosomal recessive polycystic kidney disease (ARPKD). …”
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Congenital Anomalies and Termination of Pregnancy in Iran by Bahram Samadirad, Zhila Khamnian, Mohammad Bager Hosseini, Saeed Dastgiri

“…The proportion of other screening tests including amniocentesis and genetic tests were 2.8 and 4.6 percent, respectively. …”
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Antenatal Ultrasound Findings in Fetus with Down Syndrome by Mehmet Serdar KÜTÜK, Mahmut Tuncay ÖZGÜN, Mehmet Dolanbay, Gülsüm Uysal, Aslı Uzak, Elif Kulengir, Semih Uludağ, Mustafa Başbuğ

“…The invasive testing consisted of chorionic villus sampling (10.4%), amniocentesis (83.5%), and cordocentesis (5.9%). In 54 patients, the ultrasonographic evaluation revealed major malformation and/or Down syndrome marker (80.5%), and 38 cases had more than one marker/malformation (56.7%). …”
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Gestational Outcomes of Pregnant Women Who Have Had Invasive Prenatal Testing for the Prenatal Diagnosis of Duchenne Muscular Dystrophy by Mehmet Sinan Beksac, Atakan Tanacan, Duygu Aydin Hakli, Gokcen Orgul, Burcu Soyak, Burcu Balci Hayta, Pervin Dincer, Haluk Topaloğlu

“…Prenatal diagnostic methods (chorionic villus sampling (CVS): 66, amniocentesis (AC): 23) were compared for test results, demographic features, and obstetric outcomes of pregnancies. …”
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Prenatal Identification and Molecular Characterization of Two Simultaneous De Novo Interstitial Duplications of Chromosomal Regions 7p22.1p21.1 and 15q24.1 by Sabrina C. Burn, Kali Swift, Maria Palmquist

“…Here, we describe two, previously unreported, simultaneous de novo interstitial duplications of chromosomes 7p and 15q. Amniocentesis was completed for a healthy gravida 4 para 3 woman due to her advanced maternal age and concurrent ultrasound findings of partial vermian agenesis, choroid-plexus cysts, and hypoplastic nasal bone. …”
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Prenatal Cytogenetic Findings in 13.466 Cases of High-Risk Pregnant Women in One Laboratory by Leyla Özer, Evrim Ünsal, Özge Ayvaz, Aşkın Şen, Volkan Baltacı

“…STUDY DESIGN: Between years 2001 and 2009, a large series of 13466 pregnant women with various high-risk factors were referred to our genetic laboratory for prenatal genetic diagnosis. 12.124 amniocentesis, 212 chorionic villus sampling (CVS), 173 percutaneous umbilical blood sampling (PUBS) samples and 809 fetal and placental tissue samples (from aborted or from stillbirth fetuses) were collected. …”
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Congenital malformations in children of diabetic mothers in the province of Cienfuegos. 2016-2019 by Fanny Arbolay Sanabria, Lázaro Roberto Herrera Fragoso, Maylé Santos Solí, Gladys Bárbara Barberis Pérez, Walkiria Díaz Senra, María Soledad Vilches León

“…The variables maternal age, body mass index, type of diabetes, its treatment, type of malformation, ultrasonographic results of the three trimesters of pregnancy, alpha-fetoprotein study and amniocentesis were studied.<br /><strong>Results:</strong> in the studied population the highest percentage of mothers presented gestational diabetes mellitus; Mothers between 20 and 35 years old predominated and a large number of them were overweight. …”
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Prenatal Diagnosis of 4p and 4q Subtelomeric Microdeletion in De Novo Ring Chromosome 4 by Halit Akbas, Naci Cine, Mahmut Erdemoglu, Ahmet Engin Atay, Selda Simsek, Aysegul Turkyilmaz, Mehmet Fidanboy

“…A 23-year-old patient (gravida 1, para 0) referred for amniocentesis due to abnormal maternal serum screening result in the 16th week of second pregnancy. …”
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Absolute counts of leukocyte subsets in peripheral blood in pregnancies complicated by preterm prelabour rupture of membranes by Ondrej Soucek, Marian Kacerovsky, Ivana Kacerovska Musilova, Jaroslav Stranik, Rudolf Kukla, Radka Bolehovska, Ctirad Andrys

“…IAI was identified by elevated concentrations of interleukin 6 (IL-6) in the amniotic fluid, which was collected through transabdominal amniocentesis.Results Women with IAI exhibited higher absolute counts of leukocytes (p = 0.003), granulocytes (p = 0.008), and monocytes (p = 0.009). …”
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Urocortin in Second Trimester Amniotic Fluid: Its Role as Predictor of Preterm Labor by C. Iavazzo, K. Tassis, D. Gourgiotis, M. Boutsikou, S. Baka, D. Hassiakos, C. Vogiatzi, L. Florentin-Arar, A. Malamitsi-Puchner

“…These results suggest that urocortin concentrations in the amniotic fluid of genetic amniocentesis are not predictive of preterm labor and birth.…”
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Prenatal diagnosis of mucopolysaccharidosis type I on hepatosplenomegaly and coarse features: a case-report by Maxime Agranier, Florence Demurger, Christele Dubourg, Jerome Fromageot, Anne-Sophie Cabaret Dufour, Erika Launay, Magalie Gournay, Charles Lefèvre, Roseline Froissart, Magali Pettazzoni, Paul Rollier

“…Whole exome sequencing after amniocentesis identified two likely pathogenic IDUA gene variants (in trans), raising suspicion of a diagnosis of MPS I. …”
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Diagnóstico prenatal citogenético en la provincia de Cienfuegos entre los años 2007 y 2010 by Pedro Alí Díaz-Véliz Jiménez, Yamelis Garrido Martínez, Aime Guerra Jorge, Belkis Vidal Hernández

“…<strong><br />Resultados:</strong> en el período estudiado se procesaron 1 172 amniocentesis de pacientes embarazadas, se diagnosticaron 1 076 de ellas para un 91, 81 % de efectividad. …”
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Assessment of Combined Karyotype Analysis and Chromosome Microarray Analysis in Prenatal Diagnosis: A Cohort Study of 3710 Pregnancies by Jin Wang, Danni Wang, Yan Yin, Yi Deng, Mengling Ye, Ping Wei, Zhuo Zhang, Chun Chen, Shengfang Qin, Xueyan Wang

“…From March 2019 to March 2021, 3710 amniocentesis samples were retrospectively collected from women who accepted prenatal diagnosis at 16 to 22 + 6 weeks of pregnancy. …”
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Fetoplacental Discrepancy with Normal Karyotype in Amniotic Fluid and Two Different Cell Lines in Placenta by Veronica Ortega, Christina Mendiola, Eric Williamson, Kenneth Higby, Gopalrao V. N. Velagaleti

“…A 41-year-old woman of Middle-Eastern origin, gravida 2, para 1, underwent amniocentesis at 16-week gestation because of advanced maternal age. …”
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Fetal medicine and current practice of prenatal screening by Akshatha Prabhu

“…Any signs of “high risk” for trisomies or malformations prompt invasive testing for precision diagnosis, either a chorion villous sampling (CVS) or an amniocentesis (AC). The fetal sample is used for various genetic tests, such as chromosome microarray analysis (CMA), targeted clinical exome sequencing (CES), or whole exome sequencing (WES) depending upon the abnormality noted or the suspected genetic condition. …”
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Analysis of prenatal diagnosis and pregnancy outcomes for rare autosomal trisomies detected by non-invasive prenatal testing in 33,079 cases by Xu Yan, Kai Ding, Xin Zhang, Shuai Zhang, Haiying Peng, Ying Zhang

“…Results 66 cases identified as high-risk for rare autosomeal trisomies, yielding a detection rate of 0.20% (66/33,079). 7 declined amniocentesis, while the others underwent the procedure. …”
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Importance of Aberrant Right Subclavian Artery Detection During Second Trimester Ultrasound Examination in Low-Risk Population by Erdal Seker, Hasan Sut, Mustafa Kocar, Coskun Umit, Esra Ozkavukcu, Acar Koc

“…Pregnant women have had their detailed ultrasonography at our clinic and who were between 18th-24th gestational weeks were included. Amniocentesis was performed on the patients who have accepted, and genetic results were followed up. …”
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Prenatal ultrasound phenotype of fetuses with recurrent 1q21.1 deletion and duplication syndrome by Fengyang Wang, Huijuan Peng, Guiyu Lou, Yanxin Ren, Shixiu Liao

“…ObjectiveOur study aimed to collect fetuses with recurrent 1q21.1 deletion or duplication syndrome for systematic clinical phenotype analysis to further delineate the intrauterine phenotype features of the two reciprocal syndromes.MethodsPrenatal samples, including amniotic fluid and chorionic villus samples, were obtained by amniocentesis and chorionic villus sampling at our center, respectively. …”
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Characterization of a Small Supernumerary Marker Chromosome Derived from Xq28 and 14q11.2 Detected Prenatally by Akihiro Hasegawa, Osamu Samura, Taisuke Sato, Tomona Matsuoka, Yuki Ito, Kazuhiro Kajiwara, Hiroaki Aoki, Yuka Inage, Masahisa Kobayashi, Aikou Okamoto

“…A 33-year-old Japanese woman, primigravida, underwent amniocentesis because of fetal growth restriction and fetal structural abnormality at 30 weeks of gestation. …”
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