Androgen insensitivity syndrome screening: Difference between revisions
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==Overview== | ==Overview== | ||
The diagnosis of AIS is mostly made post-natally. Studies have shown that the AIS may be identified prenatally by imaging techniques and comparative study such as such as preimplantation [[genetic screening]], noninvasive [[prenatal screening]] and [[ultrasonography]]. | The diagnosis of AIS (androgen insensitivity syndrome) is mostly made post-natally. Studies have shown that the AIS may be identified prenatally by imaging techniques and comparative study such as such as preimplantation [[genetic screening]], noninvasive [[prenatal screening]] and [[ultrasonography]]. In prepubertal girls with inguinal swellings, screening for CAIS should be considered. | ||
==Screening== | ==Screening== | ||
* The diagnosis of AIS is mostly made postnatally. But, in a study which diagnosed mid-second [[trimester]] [[fetus]] with thick [[nuchal translucency]] ([[Nuchal translucency|NT]]) / nuchal fold (NF) and short limbs was likely to be AIS. Hence, | * The diagnosis of AIS (androgen insensitivity syndrome) is mostly made postnatally. But, in a study which diagnosed mid-second [[trimester]] [[fetus]] with thick [[nuchal translucency]] ([[Nuchal translucency|NT]])/nuchal fold (NF) and short limbs was likely to be AIS. Hence, appearance of fetal sex on [[ultrasound]] should be compared with genetic sex. <ref name="pmid17605153">{{cite journal |vauthors=Yalinkaya A, Yayla M, Erdemoglu M |title=Prenatal diagnosis of a fetus with androgen insensitivity syndrome (AIS) |journal=Prenat. Diagn. |volume=27 |issue=9 |pages=856–7 |year=2007 |pmid=17605153 |doi=10.1002/pd.1747 |url=}}</ref> | ||
*With increased use, discordance among prenatal testing modalities such as preimplantation [[genetic screening]], noninvasive [[prenatal screening]] and [[ultrasonography]] will become more common requiring expert navigation to identify true pathology. <ref name="pmid25569013">{{cite journal| author=Franasiak JM, Yao X, Ashkinadze E, Rosen T, Scott RT| title=Discordant embryonic aneuploidy testing and prenatal ultrasonography prompting androgen insensitivity syndrome diagnosis. | journal=Obstet Gynecol | year= 2015 | volume= 125 | issue= 2 | pages= 383-6 | pmid=25569013 | doi=10.1097/AOG.0000000000000503 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25569013 }} </ref> | *With increased use, discordance among prenatal testing modalities such as preimplantation [[genetic screening]], noninvasive [[prenatal screening]] and [[ultrasonography]] will become more common requiring expert navigation to identify true pathology.<ref name="pmid25569013">{{cite journal| author=Franasiak JM, Yao X, Ashkinadze E, Rosen T, Scott RT| title=Discordant embryonic aneuploidy testing and prenatal ultrasonography prompting androgen insensitivity syndrome diagnosis. | journal=Obstet Gynecol | year= 2015 | volume= 125 | issue= 2 | pages= 383-6 | pmid=25569013 | doi=10.1097/AOG.0000000000000503 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25569013 }} </ref> | ||
*In prepubertal girls with inguinal swellings, screening for CAIS should be considered. <ref name="pmid26023570">{{cite journal |vauthors=Konar S, Dasgupta D, Patra DK, De A, Mallick B |title=Chromosomal Study is Must for Prepubertal Girl with Inguinal Hernia: Opportunity to Diagnose Complete Androgen Insensitivity Syndrome |journal=J Clin Diagn Res |volume=9 |issue=4 |pages=GD01–3 |year=2015 |pmid=26023570 |pmc=4437084 |doi=10.7860/JCDR/2015/11411.5750 |url=}}</ref> | *In prepubertal girls with inguinal swellings, screening for CAIS (complete androgen insensitivity syndrome)should be considered. <ref name="pmid26023570">{{cite journal |vauthors=Konar S, Dasgupta D, Patra DK, De A, Mallick B |title=Chromosomal Study is Must for Prepubertal Girl with Inguinal Hernia: Opportunity to Diagnose Complete Androgen Insensitivity Syndrome |journal=J Clin Diagn Res |volume=9 |issue=4 |pages=GD01–3 |year=2015 |pmid=26023570 |pmc=4437084 |doi=10.7860/JCDR/2015/11411.5750 |url=}}</ref> | ||
==References== | ==References== | ||
Latest revision as of 16:20, 11 October 2017
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Aravind Reddy Kothagadi M.B.B.S[2]
Overview
The diagnosis of AIS (androgen insensitivity syndrome) is mostly made post-natally. Studies have shown that the AIS may be identified prenatally by imaging techniques and comparative study such as such as preimplantation genetic screening, noninvasive prenatal screening and ultrasonography. In prepubertal girls with inguinal swellings, screening for CAIS should be considered.
Screening
- The diagnosis of AIS (androgen insensitivity syndrome) is mostly made postnatally. But, in a study which diagnosed mid-second trimester fetus with thick nuchal translucency (NT)/nuchal fold (NF) and short limbs was likely to be AIS. Hence, appearance of fetal sex on ultrasound should be compared with genetic sex. [1]
- With increased use, discordance among prenatal testing modalities such as preimplantation genetic screening, noninvasive prenatal screening and ultrasonography will become more common requiring expert navigation to identify true pathology.[2]
- In prepubertal girls with inguinal swellings, screening for CAIS (complete androgen insensitivity syndrome)should be considered. [3]
References
- ↑ Yalinkaya A, Yayla M, Erdemoglu M (2007). "Prenatal diagnosis of a fetus with androgen insensitivity syndrome (AIS)". Prenat. Diagn. 27 (9): 856–7. doi:10.1002/pd.1747. PMID 17605153.
- ↑ Franasiak JM, Yao X, Ashkinadze E, Rosen T, Scott RT (2015). "Discordant embryonic aneuploidy testing and prenatal ultrasonography prompting androgen insensitivity syndrome diagnosis". Obstet Gynecol. 125 (2): 383–6. doi:10.1097/AOG.0000000000000503. PMID 25569013.
- ↑ Konar S, Dasgupta D, Patra DK, De A, Mallick B (2015). "Chromosomal Study is Must for Prepubertal Girl with Inguinal Hernia: Opportunity to Diagnose Complete Androgen Insensitivity Syndrome". J Clin Diagn Res. 9 (4): GD01–3. doi:10.7860/JCDR/2015/11411.5750. PMC 4437084. PMID 26023570.