Premium
Prenatal ultrasonographic and molecular diagnosis of apert syndrome
Author(s) -
Filkins Karen,
Russo Joseph F.,
Boehmer Susan,
Camous Marianne,
Przylepa Kelly A.,
Jiang Wen,
Jabs Ethylin Wang
Publication year - 1997
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/(sici)1097-0223(199711)17:11<1081::aid-pd198>3.0.co;2-2
Subject(s) - apert syndrome , medicine , syndactyly , polyhydramnios , craniosynostosis , chorionic villus sampling , prenatal diagnosis , amniocentesis , obstetrics , dysostosis , pregnancy , surgery , fetus , congenital disease , biology , genetics
Apert syndrome is a rare craniosynostosis syndrome with significant bilateral syndactyly of the hands and feet. Usually it is detected by ultrasonography during the third trimester unless there is a family history. We present an interesting sporadic case with features consistent with Apert syndrome detected as early as the first trimester. A first‐trimester ultrasound evaluation prior to chorionic villus sampling (CVS) for maternal age 41 was within normal limits except for the suggestion of a ‘mitten‐like’ hand and proximally placed thumb. Mid‐trimester ultrasound was not diagnostic; however, following the development of polyhydramnios in the third trimester, the evaluation of the digits and facial features were strongly suggestive of Apert syndrome. Amniocentesis was performed and a molecular diagnosis of Apert syndrome was made and confirmed on cord blood. © 1997 John Wiley & Sons, Ltd.