First trimester prenatal treatment and molecular genetic diagnosis of congenital adrenal hyperplasia (21-hydroxylase deficiency)

Phyllis W. Speiser, Nicola Laforgia, Koji Kato, Judith Pareira, Rafiya Khan, Soo Young Yang, Christopher Whorwood, Perrin C. White, Sherman Elias, Elizabeth Schriock, Eldon Schriock, Joe Leigh Simpson, Mark Taslimi, Jennifer Najjar, Steven May, Gary Mills, Christopher Crawford, Maria I. New

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Abstract

Prenatal treatment of pregnancies at risk for congenital adrenal hyperplasia due to 21-hydroxylase deficiency was carried out in conjunction with chorionic villus sampling (CVS) in the first trimester for analysis of restriction fragment length polymorphisms. Fourteen families of a total of 49 families at risk for this disease elected to undergo both prenatal treatment and diagnosis via CVS. Dexamethasone administration to the pregnant woman was initiated at a mean gestational age of 7 weeks (range, 4-10 weeks) before testing to determine whether the fetus was affected with 21-hydroxylase deficiency, and CVS was performed at a gestational age of 8-10 weeks. Two affected female fetuses were identified by molecular genetic techniques among this group; neonatal physical examination demonstrated amelioration of the degree of genital ambiguity compared with both nonprenatally treated older sisters with 21-hydroxylase deficiency. The duration of unnecessary prenatal dexamethasone treatment for unaffected or male fetuses was substantially reduced in the CVS group compared with that in a cohort of 8 prenatally treated pregnancies in which amniocentesis was performed in the early second trimester. There were no major morbidities observed in the treated pregnancies. Postnatal confirmation of CVS diagnosis was obtained in all cases in which DNA from an affected sibling was available for comparative analysis with the DNA from chorionic villus tissue. We conclude based on these data that the benefit/risk ratio is favorable for prenatal administration of dexamethasone in pregnancies at risk for 21-hydroxylase deficiency. Treatment should be initiated during the first trimester in conjunction with diagnosis by CVS/molecular genetic techniques. Long term postnatal surveillance is recommended for all offspring of dexamethasone-treated pregnancies.

Original languageEnglish (US)
Pages (from-to)838-848
Number of pages11
JournalJournal of Clinical Endocrinology and Metabolism
Volume70
Issue number4
StatePublished - Apr 1990

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Chorionic Villi Sampling
Steroid 21-Hydroxylase
Congenital Adrenal Hyperplasia
First Pregnancy Trimester
Molecular Biology
Sampling
Dexamethasone
Pregnancy
Genetic Techniques
Fetus
Gestational Age
Siblings
Therapeutics
Chorionic Villi
Disorders of Sex Development
Amniocentesis
DNA
Second Pregnancy Trimester
Polymorphism
Prenatal Diagnosis

ASJC Scopus subject areas

  • Biochemistry
  • Endocrinology, Diabetes and Metabolism

Cite this

Speiser, P. W., Laforgia, N., Kato, K., Pareira, J., Khan, R., Yang, S. Y., ... New, M. I. (1990). First trimester prenatal treatment and molecular genetic diagnosis of congenital adrenal hyperplasia (21-hydroxylase deficiency). Journal of Clinical Endocrinology and Metabolism, 70(4), 838-848.

First trimester prenatal treatment and molecular genetic diagnosis of congenital adrenal hyperplasia (21-hydroxylase deficiency). / Speiser, Phyllis W.; Laforgia, Nicola; Kato, Koji; Pareira, Judith; Khan, Rafiya; Yang, Soo Young; Whorwood, Christopher; White, Perrin C.; Elias, Sherman; Schriock, Elizabeth; Schriock, Eldon; Simpson, Joe Leigh; Taslimi, Mark; Najjar, Jennifer; May, Steven; Mills, Gary; Crawford, Christopher; New, Maria I.

In: Journal of Clinical Endocrinology and Metabolism, Vol. 70, No. 4, 04.1990, p. 838-848.

Research output: Contribution to journalArticle

Speiser, PW, Laforgia, N, Kato, K, Pareira, J, Khan, R, Yang, SY, Whorwood, C, White, PC, Elias, S, Schriock, E, Schriock, E, Simpson, JL, Taslimi, M, Najjar, J, May, S, Mills, G, Crawford, C & New, MI 1990, 'First trimester prenatal treatment and molecular genetic diagnosis of congenital adrenal hyperplasia (21-hydroxylase deficiency)', Journal of Clinical Endocrinology and Metabolism, vol. 70, no. 4, pp. 838-848.
Speiser, Phyllis W. ; Laforgia, Nicola ; Kato, Koji ; Pareira, Judith ; Khan, Rafiya ; Yang, Soo Young ; Whorwood, Christopher ; White, Perrin C. ; Elias, Sherman ; Schriock, Elizabeth ; Schriock, Eldon ; Simpson, Joe Leigh ; Taslimi, Mark ; Najjar, Jennifer ; May, Steven ; Mills, Gary ; Crawford, Christopher ; New, Maria I. / First trimester prenatal treatment and molecular genetic diagnosis of congenital adrenal hyperplasia (21-hydroxylase deficiency). In: Journal of Clinical Endocrinology and Metabolism. 1990 ; Vol. 70, No. 4. pp. 838-848.
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AU - Khan, Rafiya

AU - Yang, Soo Young

AU - Whorwood, Christopher

AU - White, Perrin C.

AU - Elias, Sherman

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AU - Simpson, Joe Leigh

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AU - May, Steven

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AU - Crawford, Christopher

AU - New, Maria I.

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