|Embryology - 21 Oct 2017 Expand to Translate|
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|Educational Use Only - Embryology is an educational resource for learning concepts in embryological development, no clinical information is provided and content should not be used for any other purpose.|
- This Embryology site is a developmental educational resource, it does not provide specific clinical details, you should always refer to a health professional.
In Vitro Fertilization
Some Recent Findings
|More recent papers|
This table shows an automated computer PubMed search using the listed sub-heading term.
References listed on the rest of the content page and the associated discussion page (listed under the publication year sub-headings) do include some editorial selection based upon both relevance and availability.
Anthony R Gregg Futuristic Look at Genetic and Birth Defect Diagnoses and Treatments. Clin Obstet Gynecol: 2017; PubMed 28990982
Ning Liu, Qiuying Huang, Qingge Li, Dehua Zhao, Xiaole Li, Lixia Cui, Ying Bai, Yin Feng, Xiangdong Kong Spectrum of PAH gene variants among a population of Han Chinese patients with phenylketonuria from northern China. BMC Med. Genet.: 2017, 18(1);108 PubMed 28982351
Ishwar Chander Verma, Preeti Paliwal, Kanika Singh Genetic Testing in Pediatric Ophthalmology. Indian J Pediatr: 2017; PubMed 28971364
Marion Luisin, Julien Chevreau, Céline Klein, Philippe Naepels, Bénédicte Demeer, Michèle Mathieu-Dramard, Guillaume Jedraszak, Catherine Gondry-Jouet, Jean Gondry, Anne Dieux-Coeslier, Gilles Morin Prenatal diagnosis of femoral facial syndrome: Three case reports and literature review. Am. J. Med. Genet. A: 2017; PubMed 28948695
Amit Rawat, Shamsudheen Karuthedath Vellarikkal, Ankit Verma, Rijith Jayarajan, Anju Gupta, Surjit Singh, Anita Chopra, Rajive Kumar, Vinod Scaria, Sridhar Sivasubbu Case Report: Whole exome sequencing identifies a novel frameshift insertion c.1325dupT (p.F442fsX2) in the tyrosine kinase domain of BTK gene in a young Indian individual with X-linked agammaglobulinemia. F1000Res: 2016, 5;2667 PubMed 28928935
There are clinically more and more tests becoming available as we learn more about the genetic basis of some diseases. The most common diagnostic test relates to the current trend in an increasing maternal age, which has long been associated with an increase in genetic abnormalities, the most frequent of these is trisomy 21 or Down syndrome.
Single Gene Disorders
- Cystic fibrosis
- Spinal muscular atrophy
- Sickle-cell anaemia
- Huntington disease
- Myotonic dystrophy type 1
- Duchenne or Becker muscular dystrophy
- Fragile-X syndrome
A recent publication from NHMRC Medical Genetic Testing: information for health professionals (2010). This paper covers background information on all types of genetic tests, not just those associated with prenatal diagnosis.
Types of genetic tests
- Somatic cell genetic testing involves testing tissue (usually cancer) for non-heritable mutations. This may be for diagnostic purposes, or to assist in selecting treatment for a known cancer.
- Diagnostic testing for heritable mutations involves testing an affected person to identify the underlying mutation(s) responsible for the disease. This typically involves testing one or more genes for a heritable mutation.
- Predictive testing for heritable mutations involves testing an unaffected person for a germline mutation identified in genetic relatives. The risk of disease will vary according to the gene, the mutation and the family history.
- Carrier testing for heritable mutations involves testing for the presence of a mutation that does not place the person at increased risk of developing the disease, but does increase the risk of having an affected child developing the disease.
- Pharmacogenetic testing for a genetic variant that alters the way a drug is metabolised. These variants can involve somatic cells or germline changes. Even if these variants are heritable (that is germline changes), the tests are usually of relevance to genetic relatives only if they are being treated with the same type of medication.
A new site developed by NIH "GeneTests" provides medical genetics information resources available at no cost to all interested persons. It contains educational information, a directory of genetic testing laboratories and links to other databases such as OMIM.
Ethics of Testing
Major developmental abnormalities detected early enough can be resolved far more easily than those discovered late in a pregnancy.
What are the ethical questions that are raised by prenatal testing? Future individual rights or parents rights? But what about diseases, like Huntington's, where a diagnostic test can be made but there are no current treatments for the postnatal (95% of cases adult onset) disease?
Guidelines for the molecular genetics predictive test
- Recommendation 2.1 "the test is available only to individuals who have reached the age of majority."
- Recommendation 7.2 "the couple requesting antenatal testing must be clearly informed that if they intend to complete the pregnancy if the fetus is a carrier of the gene defect, there is no valid reason for performing the test."
- Diana W Bianchi, R Lamar Parker, Jeffrey Wentworth, Rajeevi Madankumar, Craig Saffer, Anita F Das, Joseph A Craig, Darya I Chudova, Patricia L Devers, Keith W Jones, Kelly Oliver, Richard P Rava, Amy J Sehnert, CARE Study Group DNA sequencing versus standard prenatal aneuploidy screening. N. Engl. J. Med.: 2014, 370(9);799-808 PubMed 24571752 | N Engl J Med.
- Shan Dan, Wei Wang, Jinghui Ren, Yali Li, Hua Hu, Zhengfeng Xu, Tze Kin Lau, Jianhong Xie, Weihua Zhao, Hefeng Huang, Jiansheng Xie, Luming Sun, Xiaohong Zhang, Weipeng Wang, Shixiu Liao, Rong Qiang, Jiangxia Cao, Qiufang Zhang, Yulin Zhou, Haiyan Zhu, Mei Zhong, Yi Guo, Linhua Lin, Zhiying Gao, Hong Yao, Hongyun Zhang, Lijian Zhao, Fuman Jiang, Fang Chen, Hui Jiang, Songgang Li, Yingrui Li, Jun Wang, Jian Wang, Tao Duan, Yue Su, Xiuqing Zhang Clinical application of massively parallel sequencing-based prenatal noninvasive fetal trisomy test for trisomies 21 and 18 in 11,105 pregnancies with mixed risk factors. Prenat. Diagn.: 2012, 32(13);1225-32 PubMed 23138752
- ART - Assisted Reproductive Technology a general term to describe all the clinical techniques used to aid fertility.
- blastomere biopsy - An ART preimplantation genetic diagnosis technique carried out at cleavage stage (day 3), excluding poor quality embryos, detects chromosomal abnormalities of both maternal and paternal origin. May not detect cellular mosaicism in the embryo.
- blastocyst biopsy - An ART preimplantation genetic diagnosis technique carried out at blastocyst stage (day 4-5), removes several trophoblast (trophoderm) cells, detects chromosomal abnormalities of both maternal and paternal origin and may detect cellular mosaicism.
- cell-free fetal deoxyribonucleic acid - (cffDNA) refers to fetal DNA circulating and isolated from the plasma portion of maternal blood.
- false negative rate - The proportion of pregnancies that will test negative given that the congenital anomaly is present.
- false positive rate - The proportion of pregnancies that will test positive given that the congenital anomaly is absent.
- negative predictive value - The probability that a congenital anomaly is absent given that the prenatal screening test is negative.
- Non-Invasive Prenatal Testing - (NIPT) could refer to ultrasound or other imaging techniques, but more frequently used to describe analysis of cell-free fetal DNA circulating in maternal blood.
- polar body biopsy - (PB biopsy) An ART preimplantation genetic diagnosis technique that removes either the first or second polar body from the zygote. As these are generated by oocyte meiosis they detects chromosomal abnormalities only on the female genetics.
- positive predictive value - The probability that a congenital anomaly is present given that the prenatal screening test is positive.
- pre-implantation genetic diagnosis - (PGD, pre-implantation genetic screening) a diagnostic procedure for embryos produced through Assisted Reproductive Technology (ART, in vitro fertilisation, IVF) for genetic diseases that would generate developmental abnormalities or serious postnatal diseases.
- prenatal screening sensitivity - (detection rate) The probability of testing positive on a prenatal screening test if the congenital anomaly is present.
- prenatal screening specificity - The probability of testing negative on a prenatal screening test if the congenital anomaly is absent.
- single nucleotide polymorphisms - (SNPs) the variation in a single DNA nucleotide that occurs at a specific position in the genome.
|Other Terms Lists|
|Terms Lists: ART | Birth | Bone | Cardiovascular | Cell Division | Gastrointestinal | Genetic | Hearing | Heart | Immune | Integumentary | Neural | Oocyte | Palate | Placenta | Renal | Respiratory | Spermatozoa | Ultrasound | Vision | Historic | Glossary|
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Cite this page: Hill, M.A. 2017 Embryology Genome Sequencing. Retrieved October 21, 2017, from https://embryology.med.unsw.edu.au/embryology/index.php/Genome_Sequencing
- © Dr Mark Hill 2017, UNSW Embryology ISBN: 978 0 7334 2609 4 - UNSW CRICOS Provider Code No. 00098G