Midtrimester diagnosis and anomalies in the dup(22q) syndrome: Correlation of aneuploidy with low maternal serum alpha-fetoprotein and oligohydramnios

M. P. Johnson; A. Greb; G. Goyert; A. Drugan; F. Qureshi; A. J. Sacks; M. I. Evans

doi:10.1002/ajmg.1320360118

Midtrimester diagnosis and anomalies in the dup(22q) syndrome: Correlation of aneuploidy with low maternal serum alpha-fetoprotein and oligohydramnios

M. P. Johnson, A. Greb, G. Goyert, A. Drugan, F. Qureshi, A. J. Sacks, M. I. Evans

Research output: Contribution to journal › Article › peer-review

6 Scopus citations

Abstract

We present the first reported case of prenatally diagnosed dup(22q) syndrome in a 20-year-old woman referred for genetic counseling because of a low maternal serum alpha-fetoprotein value. An ultrasound study at 22 weeks demonstrated oligohydramnios, intrauterine growth retardation, multiple facial malformations, and a cardiac defect. Fetal karyotype was 46, XYdup(22)(pter→q13:: q12→qter) by amniocentesis. Necropsy following pregnancy termination confirmed all prenatally delineated anomalies. Comparison is made with the complete and partial proximal dup(22q) syndromes. We emphasize the correlation between aneuploidy and the presence of low maternal serum alpha-fetoprotein, oligohydramnios, and midgestational intrauterine growth retardation.

Original language	English
Pages (from-to)	94-96
Number of pages	3
Journal	American Journal of Medical Genetics
Volume	36
Issue number	1
DOIs	https://doi.org/10.1002/ajmg.1320360118
State	Published - 1990
Externally published	Yes

Keywords

chromosome 22
fetal anomalies
intrauterine growth retardation
prenatal diagnosis

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title = "Midtrimester diagnosis and anomalies in the dup(22q) syndrome: Correlation of aneuploidy with low maternal serum alpha-fetoprotein and oligohydramnios",

abstract = "We present the first reported case of prenatally diagnosed dup(22q) syndrome in a 20-year-old woman referred for genetic counseling because of a low maternal serum alpha-fetoprotein value. An ultrasound study at 22 weeks demonstrated oligohydramnios, intrauterine growth retardation, multiple facial malformations, and a cardiac defect. Fetal karyotype was 46, XYdup(22)(pter→q13:: q12→qter) by amniocentesis. Necropsy following pregnancy termination confirmed all prenatally delineated anomalies. Comparison is made with the complete and partial proximal dup(22q) syndromes. We emphasize the correlation between aneuploidy and the presence of low maternal serum alpha-fetoprotein, oligohydramnios, and midgestational intrauterine growth retardation.",

keywords = "chromosome 22, fetal anomalies, intrauterine growth retardation, prenatal diagnosis",

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year = "1990",

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AU - Johnson, M. P.

AU - Greb, A.

AU - Goyert, G.

AU - Drugan, A.

AU - Qureshi, F.

AU - Sacks, A. J.

AU - Evans, M. I.

PY - 1990

Y1 - 1990

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AB - We present the first reported case of prenatally diagnosed dup(22q) syndrome in a 20-year-old woman referred for genetic counseling because of a low maternal serum alpha-fetoprotein value. An ultrasound study at 22 weeks demonstrated oligohydramnios, intrauterine growth retardation, multiple facial malformations, and a cardiac defect. Fetal karyotype was 46, XYdup(22)(pter→q13:: q12→qter) by amniocentesis. Necropsy following pregnancy termination confirmed all prenatally delineated anomalies. Comparison is made with the complete and partial proximal dup(22q) syndromes. We emphasize the correlation between aneuploidy and the presence of low maternal serum alpha-fetoprotein, oligohydramnios, and midgestational intrauterine growth retardation.

KW - chromosome 22

KW - fetal anomalies

KW - intrauterine growth retardation

KW - prenatal diagnosis

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Midtrimester diagnosis and anomalies in the dup(22q) syndrome: Correlation of aneuploidy with low maternal serum alpha-fetoprotein and oligohydramnios

Abstract

Keywords

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