Noninvasive prenatal testing
"Integration of noninvasive prenatal prediction of fetal blood group into clinical prenatal care". Prenatal Diagnosis. 34 (5): ... Chiu, Rossa W. K.; Lo, Y. M. Dennis (2011-04-01). "Non-invasive prenatal diagnosis by fetal nucleic acid analysis in maternal ... Hall, A.; Bostanci, A.; Wright, C. F. (2010). "Non-Invasive Prenatal Diagnosis Using Cell-Free Fetal DNA Technology: ... Dickens, Bernard M. (2014). "Ethical and legal aspects of noninvasive prenatal genetic diagnosis". International Journal of ...
Obstetric ultrasonography
Modern 3D ultrasound images provide greater detail for prenatal diagnosis than the older 2D ultrasound technology. While 3D is ... Prenatal Diagnosis. 29 (13): 1204-1212. doi:10.1002/pd.2392. ISSN 0197-3851. PMID 19899071. S2CID 26980283. Freitas, Robert A ... Obstetric ultrasonography, or prenatal ultrasound, is the use of medical ultrasonography in pregnancy, in which sound waves are ... Kempley R (9 August 2003). "The Grin Before They Bear It; Peek-a-Boo: Prenatal Portraits for the Ultrasound Set". Washington ...
Diana W. Bianchi
In 2007, Bianchi became editor-in-chief of Prenatal Diagnosis, the journal of the International Society for Prenatal Diagnosis ... International Society of Prenatal Diagnosis Directory of Officers "International Society for Prenatal Diagnosis". Archived from ... "Prenatal Diagnosis". Wiley Online Library. doi:10.1002/(ISSN)1097-0223. Retrieved 4 April 2014. "In Conversation: Tufts ... Bianchi, DW (2012). "From prenatal genomic diagnosis to fetal personalized medicine: progress and challenges". Nature Medicine ...
Elective genetic and genomic testing
Levy B, Stosic M (2019). "Traditional Prenatal Diagnosis: Past to Present". Prenatal Diagnosis. Methods in Molecular Biology. ... pitfalls and practicalities of prenatal whole exome sequencing". Prenatal Diagnosis. 38 (1): 10-19. doi:10.1002/pd.5102. PMC ... Prenatal testing is different from prenatal screening. Newborn screening screens infants a few days after birth to evaluate for ... Future applications for elective genetic and genomic testing may include: Expanded prenatal testing options such as prenatal ...
Pallister-Killian syndrome
"The utility of genome-wide cell-free DNA screening in the prenatal diagnosis of Pallister-Killian syndrome". Prenatal Diagnosis ... Because the prenatal diagnosis of PKS using the methods just cited is difficult, often indecisive, and/or best employed later ... Wang T, Ren C, Chen D, Lu J, Guo L, Zheng L, Liu Y, Chen H (2019). "Prenatal diagnosis of Pallister-Killian syndrome using cord ... literature review and approach to prenatal diagnosis". American Journal of Medical Genetics. Part A. 176 (12): 2575-2586. doi: ...
Salla disease
"Prenatal diagnosis of free sialic acid storage disorders (SASD)". Prenatal Diagnosis. 26 (8): 655-658. doi:10.1002/pd.1431. ... A diagnosis of this disorder can be made by measuring urine to look for elevated levels of free sialic acid. Prenatal testing ... and molecular diagnosis of a free sialic acid storage disease patient of moderate severity". Mol Genet Metab. 82 (2): 137-143. ...
Simpson-Golabi-Behmel syndrome
"Genetic considerations in the prenatal diagnosis of overgrowth syndromes". Prenatal Diagnosis. 29 (10): 923-929. doi:10.1002/pd ... Chen, Chih-Ping (1 June 2012). "Prenatal findings and the genetic diagnosis of fetal overgrowth disorders: Simpson-Golabi- ... If there is a known mutation in the family, prenatal testing is available. Prenatal testing is also possible by looking for ... it becomes essential for a clinical geneticist to assist in the correct selection of tests and possible diagnosis. First signs ...
Ladin's sign
Prenatal Diagnosis. 33 (8): 737-41. doi:10.1002/pd.4116. PMID 23553612. S2CID 25260888. Rosado-Mendez IM, Carlson LC, Woo KM, ... Current Obstetric & Gynecologic Diagnosis & Treatment, page 196. McGraw-Hill Professional, 2002. ISBN 978-0-8385-1401-6. Google ... detecting Ladin's sign can assist clinicians in verifying a diagnosis of pregnancy. Abnormal softening of the cervix can also ...
Multiple displacement amplification
Prenatal Diagnosis. 27 (4): 297-302. doi:10.1002/pd.1667. PMID 17278176. S2CID 22175397. Shoaib; Baconnais, S; Mechold, U; Le ... Coskun; Alsmadi, O (2007). "Whole genome amplification from a single cell: a new era for preimplantation genetic diagnosis". ... allowing preimplantation genetic diagnosis (PGD): screening for genetic health issues in an early-stage embryo before ...
Finnish heritage disease
Prenatal Diagnosis. 21 (5): 409-12. doi:10.1002/pd.82. PMID 11360285. S2CID 22368642. Seppo Poutanen (2005). "3: The first ... Krystyna E. Wiśniewski; Nanbert Zhong; Jeffrey C. Hall (2001). Batten disease: diagnosis, treatment, and research. Academic ... prenatal testing, and counseling. This has raised questions of bioethics and eugenics. There are 36 identified Finnish heritage ...
Polysomy
There are several existing microarray techniques that may be utilized during the prenatal diagnosis phase, and these include ... Binns, Victoria; Nancy Hsu (20 Jun 2001). "Prenatal Diagnosis". Encyclopedia of Life Sciences. Jon Wiley & Sons. doi:10.1038/ ... "The Use of Chromosomal Microarray Analysis in Prenatal Diagnosis". American College of Obstetricians and Gynecologists. ... Prenatal Diagnosis. 32 (10): 986-95. doi:10.1002/pd.3943. PMC 3509216. PMID 22847778. Crocker, ed. by David Burnett; John (2005 ...
Placental growth factor
Prenatal Diagnosis. 22 (1): 8-12. doi:10.1002/pd.218. PMID 11810642. S2CID 25971596. Angelucci C, Lama G, Iacopino F, Maglione ...
Cebocephaly
Chen, C. P.; Lee, C. C.; Chen, L. F.; Chuang, C. Y.; Jan, S. W.; Chen, B. F. (1997-09-01). "Prenatal diagnosis of de novo ... Chen, Chih-Ping; Chern, Schu-Rern; Lee, Chen-Chi; Chen, Li-Feng; Chuang, Chun-Yu; Chen, Ming-Hong (1998). "Prenatal diagnosis ... Prenatal Diagnosis. 18 (4): 393-398. doi:10.1002/(SICI)1097-0223(199804)18:4. 3.0.CO;2-Q. ISSN 1097-0223. PMID 9602489. S2CID ... A CT scan may be used to confirm the diagnosis. Most infants born with cebocephaly die soon after birth. Cebocephaly is very ...
Hemoglobin subunit zeta
Prenatal Diagnosis. 21 (7): 529-39. doi:10.1002/pd.81. PMID 11494285. S2CID 11841129. v t e (Articles with short description, ...
Twin
Schmid, O; Trautmann, U; Ashour, H; Ulmer, R; Pfeiffer, RA; Beinder, E (Dec 2000). "Prenatal diagnosis of heterokaryotypic ... 1999). "'Identical' twins with discordant karyotypes". Prenatal Diagnosis. 19 (1): 72-6. doi:10.1002/(SICI)1097-0223(199901)19: ... Shulman LS, van Vugt JG (2006). Prenatal medicine. Washington, DC: Taylor & Francis. p. 447. ISBN 978-0-8247-2844-1. Curran, ...
Omphalocele
Mann S, Blinman TA, Douglas Wilson R (July 2008). "Prenatal and postnatal management of omphalocele". Prenatal Diagnosis. 28 (7 ... Schnur J, Dolgin S, Vohra N, Soffer S, Glick R (February 2008). "Pitfalls in prenatal diagnosis of unusual congenital abdominal ... Prenatal Diagnosis. 28 (7): 626-632. doi:10.1002/pd.2008. ISSN 0197-3851. PMID 18634119. S2CID 206345744. Blaas, H.-G.; Eik‐Nes ... Omphalocele Diagnosis and Treatment at SSM Health St. Louis Fetal Care Institute The Brown Fetal Treatment Program - Providence ...
Arthur Beaudet
Prenatal Diagnosis. 32 (1): 10-20. doi:10.1002/pd.2855. PMID 22470934. S2CID 43511221. Vossaert, L; Wang, Q; Salman, R; McCombs ... "Validation Studies for Single Circulating Trophoblast Genetic Testing as a Form of Noninvasive Prenatal Diagnosis". American ... Beaudet has worked for over a decade trying to develop a commercial form of cell-based noninvasive prenatal testing using fetal ...
Hypophosphatasia
Prenatal Diagnosis. 28 (11): 993-998. doi:10.1002/pd.2088. PMID 18925618. S2CID 33682973. Whyte MP, Essmyer K, Geimer M, Mumm S ... November 2008). "Hypophosphatasia: molecular testing of 19 prenatal cases and discussion about genetic counseling". ... Whyte MP (April 2016). "Hypophosphatasia - aetiology, nosology, pathogenesis, diagnosis and treatment". Nature Reviews. ... incorrect or missed diagnosis may occur. In one study, 19% of patients diagnosed with fibromyalgia had laboratory findings ...
Placenta
Kiserud T, Acharya G (December 2004). "The fetal circulation". Prenatal Diagnosis. 24 (13): 1049-1059. doi:10.1002/pd.1062. ... Hornef M, Penders J (May 2017). "Does a prenatal bacterial microbiota exist?". Mucosal Immunology. 10 (3): 598-601. doi:10.1038 ...
Vertically transmitted infection
November 2005). "TORCH test for fetal medicine indications: only CMV is necessary in the United Kingdom". Prenatal Diagnosis. ... Diagnosis can be confirmed by culture of one of the specific pathogens or by increased levels of IgM against the pathogen.[ ... 2006). "A Simple Parallel Analytical Method of Prenatal Screening". Gynecologic and Obstetric Investigation. 62 (4): 220-225. ...
Human nose
Prenatal Diagnosis. 32 (3): 240-4. doi:10.1002/pd.2938. PMID 22430721. S2CID 23326973. Solomon, Atyam. "Woodruff plexus , ... Two pairs of sinuses form during prenatal development and two pairs form after birth. The maxillary sinuses are the first to ... Hengerer AS, Oas RE (1987). Congenital Anomalies of the Nose: Their Embryology, Diagnosis, and Management (SIPAC). Alexandria ... "Nasal bone assessment in prenatal screening for trisomy 21". American Journal of Obstetrics and Gynecology. 195 (5): 1219-30. ...
Newborn screening
"Prenatal diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in a family with a previous fatal case of sudden ... Prenatal Diagnosis. 15 (1): 82-86. doi:10.1002/pd.1970150118. PMID 7740006. S2CID 24295134. Lindner, M.; Hoffmann, G. F.; ... Prenatal testing Clague A; Thomas A (2002). "Neonatal biochemical screening for disease". Clin. Chim. Acta. 315 (1-2): 99-110. ... The serious impacts of a late diagnosis, combined with the high incidence (estimated at 1 - 3 per 1000 live births, and as high ...
Conjoined twins
Prenatal Diagnosis. 25 (9): 839-843. doi:10.1002/pd.1274. PMID 16170850. S2CID 32204640. Schiewe, Mitchel C.; Whitney, John B ... Maymon, Ron; Mendelovic, Sonia; Schachter, Morey; Ron-El, Raphael; Weinraub, Zwi; Herman, Arie (September 2005). "Diagnosis of ...
Germline mosaicism
... invasive prenatal diagnosis for 'reassurance' in sporadic paternal age effect (PAE) disorders". Prenatal Diagnosis. 37 (9): 946 ... Autosomal dominant or X-linked familial disorders often prompt prenatal testing for germline mosaicism. This diagnosis may ... "Germline mosaicism in Rett syndrome identified by prenatal diagnosis". Clinical Genetics. 67 (3): 258-260. doi:10.1111/j.1399- ...
Hecht Scott syndrome
"Prenatal diagnosis of femur-fibula-ulna complex by ultrasonography in a male fetus at 24 weeks of gestation". Prenatal ... Therefore, early diagnosis and treatment of this syndrome is vital. Prenatal screening can reveal whether the child will have ... Diagnosis. 14 (6): 502-505. doi:10.1002/pd.1970140616. ISSN 0197-3851. PMID 7937589. S2CID 9457508. "WNT7A gene". Genetics Home ...
Urinary cell-free DNA
Prenatal diagnosis Organ transplantation Detect rejection after renal transplantation Diagnosis of cancer can be performed by ... Additionally, prenatal diagnosis and organ transplantation monitoring are other potential applications. Sensitivity and ... Prenatal Diagnosis. 15 (7): 641-646. doi:10.1002/pd.1970150709. PMID 8532624. S2CID 23932579. Botezatu, I.; Serdyuk, O.; ... Potential applications of prenatal DNA in urine include early sex determination (as hinted by the presence of male Y- ...
7-Dehydrocholesterol reductase
Prenatal Diagnosis. 20 (3): 238-40. doi:10.1002/(SICI)1097-0223(200003)20:3. 3.0.CO;2-W. PMID 10719329. S2CID 25094766. Yu H, ... retrospective molecular diagnosis". American Journal of Medical Genetics. 95 (2): 174-7. doi:10.1002/1096-8628(20001113)95:2. ...
Klinefelter syndrome
... estimated rates of and indication for postnatal diagnosis with implications for prenatal counselling". Prenatal Diagnosis. 17 ( ... Klinefelter syndrome can be diagnosed as a coincidental prenatal finding in the context of invasive prenatal diagnosis ( ... of KS cases are found by prenatal diagnosis. The symptoms of KS are often variable, so a karyotype analysis should be ordered ... Bojesen A, Juul S, Gravholt CH (February 2003). "Prenatal and postnatal prevalence of Klinefelter syndrome: a national registry ...
Amniocentesis
If used for prenatal genetic diagnosis, fetal cells may be separated by centrifugation from the extracted sample and grown in a ... Their work opened the door to the prenatal diagnosis of aneuploidies. In 1972, R. G. Sutcliffe and D. J. H. Brock found that ... Amniocentesis is a medical procedure used primarily in the prenatal diagnosis of genetic conditions. It has other uses such as ... Levy B, Wapner R (February 2018). "Prenatal diagnosis by chromosomal microarray analysis". Fertility and Sterility. 109 (2): ...
Malpuech facial clefting syndrome
Turnbull, C.; Lees, M.; Chitty, L. S. (Dec 2006). "Prenatal sonographic diagnosis of Malpuech syndrome". Prenatal Diagnosis. 26 ... "FACE - DIAGNOSIS OF CONGENITAL ABNORMALITIES - THE 18-23 WEEKS SCAN". Centrus.com.br. Archived from the original on November 21 ... Due to the relatively high rate of hearing impairment found with the disorder, it too may be considered in the diagnosis. ... a karyotype without this aberration present would favor a Malpuech syndrome diagnosis. Also, the karyotype of an individual ...