Antenatal diagnosis and pre-implantation genetic testing

2018 ◽  
Author(s):  
Frances Flinter
Keyword(s):  
Prenatal Diagnosis ◽  
Genetic Testing ◽  
Molecular Level ◽  
Antenatal Diagnosis ◽  
Genetic Diagnosis ◽  
Recurrence Risk ◽  
Antenatal Screening ◽  
Ultrasound Scan ◽  
Specific Diagnosis ◽  
Non Invasive

Routine pregnancy screening (e.g. ultrasound scan) may lead unexpectedly to the identification of an underlying renal problem whose aetiology may not be apparent immediately. It is important to recognize genetic causes so that associated problems in other organs can be anticipated and the recurrence risk for future pregnancies established. Specific diagnosis at a cytogenetic or molecular level may be essential if the options of early prenatal diagnosis or pre-implantation genetic diagnosis are to be available to the couple in future pregnancies. This chapter discusses the topics of antenatal screening, prenatal diagnosis (including invasive and non-invasive diagnosis and counselling) and intervention, and pre-implantation genetic diagnosis.

scholarly journals A genomic autopsy identifies causes of perinatal death and provides options to prevent recurrence

2022 ◽  
Author(s):  
Hamish Scott ◽  
Alicia Byrne ◽  
Peer Arts ◽  
Thuong Ha ◽  
Karin Kassahn ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Developmental Disorders ◽  
Perinatal Death ◽  
Genetic Diagnosis ◽  
Clinical Importance ◽  
Recurrence Risk ◽  
In Utero ◽  
Disease Genes ◽  
Genomic Disorders

Abstract Perinatal death, of a fetus or newborn, is a devastating event for families. Following nationwide multicentre recruitment, we assessed ‘genomic autopsy’ as an adjunct to standard autopsy for 200 families who experienced perinatal death, and provided a definite or candidate genetic diagnosis in 105 families. From this understudied cohort, half of the (candidate) diagnoses were phenotype expansions or novel disease genes, revealing previously unknown in-utero presentations of existing developmental disorders, and genomic disorders that are likely incompatible with life. Among the definite diagnoses, 43% were recessively or dominantly inherited, posing a 25% or 50% recurrence risk for future pregnancies. Ten families used their diagnosis for preimplantation or prenatal diagnosis of 12 pregnancies, facilitating the delivery of ten healthy newborns and management of two affected pregnancies. We emphasize the clinical importance of genomic investigations of perinatal death, with short turn-around times, enabling accurate counselling and options for families to prevent recurrence.

Prenatal diagnosis

2020 ◽  
pp. 141-150
Author(s):  
Ana Piñas Carrillo ◽  
Amarnath Bhide
Keyword(s):  
Prenatal Diagnosis ◽  
Biochemical Markers ◽  
Detection Rate ◽  
Main Tool ◽  
Fetal Anomaly ◽  
Antenatal Screening ◽  
Ultrasound Scan ◽  
The United Kingdom ◽  
Structural Abnormalities ◽  
Routine Antenatal Care

Prenatal diagnosis commenced in the 1980s as part of routine antenatal care in the United Kingdom. Ultrasonography has become widely spread and the main tool to screen for fetal structural abnormalities and chromosomal defects together with biochemical markers. Standardization of routine antenatal screening has only been introduced recently by the National Health Service Fetal Anomaly Screening Programme (FASP) in an attempt to achieve uniformity in prenatal diagnosis around the country. A series of recommendations were made including 11 fetal conditions with a detection rate of more than 50% that should be routinely screened for in any centre in the country. Any ultrasound scan should be performed in a systematic fashion ensuring examination of every system in the fetal anatomy. It is essential to become familiarized with the normal fetal anatomy and the most common structural abnormalities and referral to a centre with appropriate expertise is imperative if any abnormality is suspected.

scholarly journals Non-Invasive Prenatal Diagnosis of Retinoblastoma Inheritance by Combined Targeted Sequencing Strategies

2020 ◽  
Vol 9 (11) ◽  
pp. 3517
Author(s):  
Amy Gerrish ◽  
Benjamin Bowns ◽  
Chipo Mashayamombe-Wolfgarten ◽  
Elizabeth Young ◽  
Samantha Court ◽  
...  
Keyword(s):  
At Risk ◽  
Prenatal Diagnosis ◽  
Genetic Testing ◽  
Maternal Inheritance ◽  
De Novo ◽  
Massively Parallel Sequencing ◽  
Targeted Sequencing ◽  
Rb1 Gene ◽  
Non Invasive ◽  
Inheritance Model

Retinoblastoma, the most common childhood eye cancer, presents in two forms: heritable or sporadic. Heritable retinoblastoma is caused by a germline mutation in the RB1 gene. Early diagnosis of children at risk of inheriting an RB1 mutation is crucial to achieve optimal clinical outcome. Currently, the majority of genetic testing is performed on newborns, which has multiple disadvantages for both families and the healthcare system. We have developed a non-invasive prenatal diagnosis (NIPD) service for retinoblastoma, available from 8 weeks’ gestation, which uses a combination of massively parallel sequencing (MPS) techniques, dependent on the inheritance model. Detection of paternal or suspected de novo RB1 variants is achieved through amplicon-based MPS. NIPD of a fetus at risk of maternal inheritance is performed using capture-based targeted sequencing and relative haplotype dosage analysis. In addition, we show proof of principle of how capture-based sequencing can be used for de novo variants unsuitable for amplicon-based testing. In total, we report the NIPD of 15 pregnancies, results of which show 100% concordance with all postnatal testing performed at the time of publication (n = 12) with remaining pregnancies ongoing. NIPD of retinoblastoma therefore offers a viable alternative to newborn genetic testing.

scholarly journals Advances in Genetic Diagnosis of Kallmann Syndrome and Genetic Interruption

2021 ◽  
Author(s):  
Yujun Liu ◽  
Xu Zhi
Keyword(s):  
Prenatal Diagnosis ◽  
Genetic Testing ◽  
Early Stage ◽  
Hypogonadotropic Hypogonadism ◽  
Genetic Diagnosis ◽  
Kallmann Syndrome ◽  
Hereditary Diseases ◽  
Congenital Defects ◽  
Unilateral Renal Agenesis ◽  
Congenital Hypogonadotropic Hypogonadism

AbstractKallmann syndrome (KS) is a rare hereditary disease with high phenotypic and genetic heterogeneity. Congenital hypogonadotropic hypogonadism and hyposmia/anosmia are the two major characterized phenotypes of KS. Besides, mirror movements, dental agenesis, digital bone abnormalities, unilateral renal agenesis, midline facial defects, hearing loss, and eye movement abnormalities can also be observed in KS patients. Because of the phenotypic heterogeneity, genetic diagnosis become increasingly valuable to distinguish KS from other disorders including normosmic congenital hypogonadotropic hypogonadism, constitutional delay of growth and puberty, CHARGE syndrome, and functional hypogonadotropic hypogonadism. Application of next-generation sequencing has promoted the discovery of novel pathogenic genes in KS pedigrees. Prenatal diagnosis is an effective method in clinical settings to decrease birth defects and block transmission of genetic disorders. However, pregnant women may suffer from physical and psychological distress when fetuses are diagnosed with congenital defects. Preimplantation genetic testing (PGT) is a prospective approach during the in vitro fertilization process that helps to interrupt transmission of hereditary diseases to offspring at an early stage. Thus, genetic testing and counseling are recommended to KS patients with family histories, prenatal diagnosis and PGT are considered to be useful options.

scholarly journals Non-Invasive Prenatal Diagnosis in the Management of Preimplantation Genetic Diagnosis Pregnancies

2014 ◽  
Vol 3 (3) ◽  
pp. 913-922 ◽  
Author(s):  
Ana Bustamante-Aragones ◽  
Sara Perlado-Marina ◽  
Maria Trujillo-Tiebas ◽  
Jesús Gallego-Merlo ◽  
Isabel Lorda-Sanchez ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Preimplantation Genetic Diagnosis ◽  
Genetic Diagnosis ◽  
Non Invasive
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