Androgen insensitivity syndrome screening: Difference between revisions
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* 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, 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> | * 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, 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> | |||
==References== | ==References== | ||
Revision as of 03:27, 24 August 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 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.
Screening
- The diagnosis of AIS 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 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.