Review
Biochemistry & Molecular Biology
Rima Dardik, Szymon Janczar, Shadan Lalezari, Einat Avishai, Sarina Levy-Mendelovich, Assaf Arie Barg, Uri Martinowitz, Katarzyna Babol-Pokora, Wojciech Mlynarski, Gili Kenet
Summary: Hemophilia A (HA) is a rare X-linked bleeding disorder caused by mutations in the F8 gene. Carrier status determination for HA has evolved from phenotypic and genetic linkage studies to next generation sequencing. Prenatal diagnosis has advanced from fetal blood sample examination to genetic analysis of chorionic villus tissue. In vitro fertilization (IVF) with preimplantation genetic diagnosis (PGD) is becoming the preferred option for HA carriers. Skewed X chromosome inactivation (XCI) can complicate carrier analysis and is important to consider in genetic counseling and PGD planning. Whole exome sequencing with X-chromosome targeted bioinformatic analysis is recommended for symptomatic HA carriers with skewed XCI to identify additional deleterious mutations.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Hematology
Quan D. M. Pham, Sharon M. Thomson, Burk N. Schaible, Kevin D. Mills, Anthony Atala, Christopher D. Porada, Graca Almeida-Porada
Summary: This study investigated the attitudes of individuals with haemophilia towards prenatal diagnosis and therapy. The results showed that most participants were willing to undergo prenatal diagnosis, and had concerns about lasting therapeutic efficacy, side effects, and procedural risks. However, they were likely to accept a wide range of prenatal therapeutic options if they were proven to be long-lasting and safe.
Article
Medicine, General & Internal
Muhammad Arif Sadiq, Suhaib Ahmed, Muhammad Afzal, Sunila Tasfeen
Summary: This study screened and analyzed gene variants in Pakistani Haemophilia-A patients, finding five known disease causing variants in 40% of the patients. Additionally, analysis of CA repeats in the gene provided a comprehensive basis for diagnosis and screening in affected families.
PAKISTAN JOURNAL OF MEDICAL SCIENCES
(2022)
Article
Medicine, General & Internal
Mengna Liu, Xiao Liu, Jiebin Wu, Jing Sha, Jingfang Zhai, Bei Zhang
Summary: This article reports a case of an infant with lissencephaly (LIS) who was missed during prenatal diagnosis. The authors aim to share their experiences and lessons, emphasizing the importance of comprehensive evaluation by a multi-disciplinary team for patients with epilepsy and cerebral hypoplasia.
Article
Acoustics
Wael Abdallah, Emmanuel Spaggiari, Sophie Brisset, Rodolphe Dard, Tania Attie Bitach, Jean Philippe Bault, Thibault Quibel
Summary: Primrose syndrome is a rare congenital malformation that is often diagnosed in adulthood. This study presents three cases with characteristic sonographic features and identifies a missense mutation in the ZBTB20 gene that can confirm the prenatal diagnosis of Primrose syndrome.
JOURNAL OF ULTRASOUND IN MEDICINE
(2023)
Article
Genetics & Heredity
Fan Jiang, Jianying Zhou, Liandong Zuo, Xuewei Tang, Jian Li, Fatao Li, Tianhe Yang, Yanxia Qu, Junhui Wan, Can Liao, Dongzhi Li
Summary: From 2020 to 2022, genetic analysis was conducted on 1,316 families suspected to have children with thalassemia major, including 42 pregnant couples suspected to be thalassemia carriers with rare variants. Multiple techniques were used to diagnose rare thalassemia, with a prenatal diagnosis rate of 3.19% (42/ 1,316). Accurate gene diagnosis using combined molecular biology techniques is crucial for prenatal diagnosis of rare thalassemia.
FRONTIERS IN GENETICS
(2023)
Article
Obstetrics & Gynecology
Teresa N. Sparks, Lorraine Dugoff
Summary: Establishing prenatal diagnosis of fetal genetic disease allows for informed decision-making and customized prenatal care based on disease-specific risks. Accurate understanding of genetic tests, their limitations, and the clinical implications is necessary for appropriate test selection and interpretation. Pre-and posttest counseling with trained professionals ensures accurate understanding of test results and their implications.
AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY
(2023)
Editorial Material
Medical Laboratory Technology
Diana M. Toledo, Katherine A. Lafferty
Summary: This editorial discusses the clinical perspective of long-read sequencing method in the prenatal diagnosis of alpha- and beta-thalassemia, comparing it with standard PCR-based methods. The increased sensitivity and specificity of long-read sequencing provide an important advantage in the prenatal diagnostic field, as false positive or false negative results have greater consequences when families are making decisions about their pregnancy.
CLINICAL CHEMISTRY
(2023)
Review
Biochemistry & Molecular Biology
Fabio Coppede, Utsa Bhaduri, Andrea Stoccoro, Vanessa Nicoli, Eleonora Di Venere, Giuseppe Merla
Summary: The central objective of combining discovery science with biomedical applications is to benefit patients and reduce the global disease burden. The conversion of DNA methylation (DNAm) from a biological process to a diagnostic tool is a prime example of this transformation, which took nearly a century. In recent years, DNAm studies have been standardized in clinical applications more than ever before, offering great potential for diagnosing various diseases associated with epigenetic alterations. DNAm detection plays a role in noninvasive prenatal testing and indicates prenatal risk factors in very preterm infants. In the field of cancer, liquid biopsy-based DNAm profiling provides valuable epigenetic biomarkers for early-stage diagnosis.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Genetics & Heredity
Mullin Ho Chung Yu, Jeffrey Fong Ting Chau, Sandy Leung Kuen Au, Hei Man Lo, Kit San Yeung, Jasmine Lee Fong Fung, Christopher Chun Yu Mak, Claudia Ching Yan Chung, Kelvin Yuen Kwong Chan, Brian Hon Yin Chung, Anita Sik Yau Kan
Summary: Balanced chromosomal abnormalities (BCAs) are changes in chromosomal segments without genetic material gain or loss, occurring in 1 in 500 newborns and associated with increased risk of congenital anomalies and neurodevelopmental disorders. Using short read genome sequencing (GS) for diagnosing BCAs can provide more specific genetic diagnosis information, potentially improving genetic counseling and perinatal management.
FRONTIERS IN GENETICS
(2021)
Review
Obstetrics & Gynecology
Yin Wang, Yonghua Wang, Mengxia Yao, Le Chen, Suqing Wu, Yanying Liu
Summary: The triad of micrognathia, glossoptosis, and posterior cleft palate, along with deformed external ears, should raise suspicion of Treacher Collins syndrome (TCS) during prenatal ultrasound, except in cases of Pierre Robin sequence. Visualization of the fetal zygomatic bone and down-slanting palpebral fissures can help differentiate between the two conditions. Genetic testing is necessary for a definitive diagnosis. In this case, a 28-year-old pregnant Chinese woman presented with features consistent with Pierre Robin sequence but was ultimately diagnosed with TCS through whole-exome sequencing.
INTERNATIONAL JOURNAL OF GYNECOLOGY & OBSTETRICS
(2023)
Article
Obstetrics & Gynecology
W. Lv, S. Linpeng, Z. Li, D. Liang, Z. Jia, D. Meng, D. S. Cram, H. Zhu, Y. Teng, A. Yin, L. Wu
Summary: The clinical feasibility of noninvasive prenatal diagnosis (NIPD) for beta-thalassaemia using cSMART technology was evaluated in a study involving 102 pregnant Chinese couples. The study demonstrated a high concordance rate of 97% between the cSMART assay and invasive prenatal diagnosis (IPD) results. This suggests that cSMART-based NIPD has potential clinical utility as an alternative to IPD for pregnant couples at high genetic risk for beta-thalassaemia.
BJOG-AN INTERNATIONAL JOURNAL OF OBSTETRICS AND GYNAECOLOGY
(2021)
Article
Medicine, General & Internal
Ping Tang, Jiarui Li, Jun Li, Juan Yang, Jianjun Zhu
Summary: This case report identifies a novel EYA1 gene mutation associated with BOR syndrome, which is the cause of fetal renal dysplasia. Early use of appropriate technology for diagnosis can guide prognosis consultation.
Article
Medicine, General & Internal
Kyung Min Kang, Soo Hyun Kim, Ji Eun Park, Hyunjin Kim, Hee Yeon Jang, Minyeon Go, So Hyun Yang, Sang Woo Ryu, Sung Mi Bae, Dong Hyun Cha, Sung Han Shim
Summary: This article aims to investigate the causes of inconsistent results between non-invasive prenatal testing (NIPT) and invasive testing methods in detecting trisomy 21. The study found that despite advances in fetal chromosome analysis using NIPT, invasive testing is still necessary to confirm the results.
FRONTIERS IN MEDICINE
(2022)
Article
Genetics & Heredity
Lulu Yan, Juan Cao, Yuxin Zhang, Yingwen Liu, Jinghui Zou, Biying Lou, Danyan Zhuang, Haibo Li
Summary: This study reports the first prenatal case of Rhizomelic limb shortening with dysmorphic features (RLSDF) caused by PKDCC in the Chinese population, which enriches the variation spectrum of PKDCC and emphasizes the necessity of using whole exome sequencing (WES) for the early diagnosis of skeletal dysplasia and other ultrasound structural abnormalities in fetuses.
BMC MEDICAL GENOMICS
(2023)