Ambiguous genitalia: what prenatal genetic testing is practical?

American Journal of Medical Genetics. Part a
Margaret P AdamMargarett Shnorhavorian

Abstract

Concern for ambiguous genitalia or chromosome-phenotype discordance detected in a prenatal setting has increased over the last two decades. Practitioners faced with this prenatal finding have a variety of genetic tests available to them; however, it is unclear to what extent prenatal testing for disorders of sex development (DSD) is useful or practical. We undertook a retrospective review of the medical records of 140 individuals evaluated through the DSD clinic at Seattle Children's Hospital with birthdates from 01/01/1994 through 08/16/2011 to determine the rate of prenatal detection of ambiguous genitalia in individuals with DSD, what prenatal diagnostic workup was undertaken, and the postnatal outcome, including whether a postnatal genetic diagnosis was confirmed. Of all 140 subjects, 34 (24%) were identified prenatally. The most common postnatal diagnoses were penoscrotal hypospadias with transposition of the scrotum with no known genetic cause (24/140; 17%) and 21-hydroxylase deficiency (20/140; 14%). Apart from these, no single diagnosis comprised more than a few cases. Prenatal diagnostic testing varied widely, from no tests to multiple molecular tests with amniotic fluid hormone concentrations. In the absence of other ...Continue Reading

References

Jun 1, 1995·The Journal of Urology·J MandellB R Benacerraf
Sep 5, 2001·American Journal of Human Biology : the Official Journal of the Human Biology Council·Melanie BlacklessEllen Lee
Oct 5, 2002·The Journal of Clinical Endocrinology and Metabolism·Orit Pinhas-HamielReuven Achiron
Dec 24, 2002·Journal of Ultrasound in Medicine : Official Journal of the American Institute of Ultrasound in Medicine·Daniel Cafici, Ana Iglesias
Sep 17, 2003·Prenatal Diagnosis·V MazzaA Forabosco
Jan 23, 2004·The New England Journal of Medicine·David T MacLaughlin, Patricia K Donahoe
Apr 21, 2006·Archives of Disease in Childhood·I A HughesUNKNOWN ESPE Consensus Group
Aug 3, 2006·Pediatrics·Peter A LeeUNKNOWN International Consensus Conference on Intersex organized by the Lawson Wilkins Pediatric Endocrine Society and the European
Aug 3, 2006·Pediatrics·Christopher P HoukUNKNOWN Writing Committee for the International Intersex Consensus Conference Participants
Jun 19, 2007·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Melissa A ParisiRoberta A Pagon
Jul 31, 2008·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·C M Verwoerd-DikkeboomE A P Steegers
Dec 25, 2008·Journal of Ultrasound in Medicine : Official Journal of the American Institute of Ultrasound in Medicine·Reem S Abu-Rustum, Mustapha Chaaban
Jan 28, 2010·Journal of Ultrasound in Medicine : Official Journal of the American Institute of Ultrasound in Medicine·Lauren K HackettDolores H Pretorius
May 25, 2010·Journal of Pediatric Urology·Ian A Aaronson, Alistair J Aaronson
Jun 15, 2010·Best Practice & Research. Clinical Endocrinology & Metabolism·Ieuan A Hughes
Jun 15, 2010·Best Practice & Research. Clinical Endocrinology & Metabolism·V PasterskiI A Hughes
Jul 8, 2010·Journal of Pediatric Urology·Ieuan Hughes
Sep 18, 2010·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Cristina GervasiniMonica Miozzo

❮ Previous
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Citations

Mar 7, 2014·Best Practice & Research. Clinical Obstetrics & Gynaecology·Lyn S Chitty
Oct 30, 2014·Current Opinion in Endocrinology, Diabetes, and Obesity·Berenice B Mendonca
Nov 8, 2012·Journal of Pediatric Urology·Lyn S ChittyYves Aigrain
Mar 4, 2020·Prenatal Diagnosis·Maria-Elisabeth SmetAndrew C McLennan
Nov 29, 2020·Revista colombiana de obstetricia y ginecología·Álvaro López Soto

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