Literature DB >> 22395717

Imaging clues in the prenatal diagnosis of syndromes and aneuploidy.

Judy A Estroff1.   

Abstract

Advances in fetal sonography and MRI have increased both the range and diagnostic accuracy of detectable fetal anomalies, with many anomalies detectable earlier in pregnancy. The presence of structural anomalies greatly raises the risk that the fetus has a syndrome or abnormal karyotype. In addition, new techniques in maternal serum screening have greatly increased the ability to identify pregnant patients at risk for anomalies and syndromes. This paper reviews maternal first- and second-trimester serum screening and imaging and covers many of the most common fetal karyotypic and structural anomalies.

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Year:  2012        PMID: 22395717     DOI: 10.1007/s00247-011-2264-3

Source DB:  PubMed          Journal:  Pediatr Radiol        ISSN: 0301-0449


  42 in total

1.  Absence of nasal bone and detection of trisomy 21.

Authors:  Pierangela De Biasio; Pier Luigi Venturini
Journal:  Lancet       Date:  2002-04-13       Impact factor: 79.321

2.  Prenatal detection of fetal trisomy 18 through abnormal sonographic features.

Authors:  Lami Yeo; Edwin R Guzman; Debra Day-Salvatore; Christine Walters; Donna Chavez; Anthony M Vintzileos
Journal:  J Ultrasound Med       Date:  2003-06       Impact factor: 2.153

3.  Examination of fetal nasal bone and repeatability of measurement in early pregnancy.

Authors:  V Kanellopoulos; C Katsetos; D L Economides
Journal:  Ultrasound Obstet Gynecol       Date:  2003-08       Impact factor: 7.299

4.  Prenatally diagnosed clubfeet: comparing ultrasonographic severity with objective clinical outcomes.

Authors:  Michael P Glotzbecker; Judy A Estroff; Samantha A Spencer; Justin C Bosley; Richard B Parad; James R Kasser; Susan T Mahan
Journal:  J Pediatr Orthop       Date:  2010-09       Impact factor: 2.324

Review 5.  The 18-week fetal examination and detection of anomalies.

Authors:  Sturla H Eik-Nes
Journal:  Prenat Diagn       Date:  2010-07       Impact factor: 3.050

Review 6.  A newborn with unusual morphology: some practical aspects.

Authors:  Raoul C M Hennekam
Journal:  Semin Fetal Neonatal Med       Date:  2010-12-23       Impact factor: 3.926

7.  Fetal pyelectasis: a possible association with Down syndrome.

Authors:  B R Benacerraf; J Mandell; J A Estroff; B L Harlow; F D Frigoletto
Journal:  Obstet Gynecol       Date:  1990-07       Impact factor: 7.661

Review 8.  Sonographic markers of fetal trisomies: second trimester.

Authors:  D A Nyberg; V L Souter
Journal:  J Ultrasound Med       Date:  2001-06       Impact factor: 2.153

9.  Echogenic fetal bowel during the second trimester: clinical importance.

Authors:  D A Nyberg; T Dubinsky; R G Resta; B S Mahony; D E Hickok; D A Luthy
Journal:  Radiology       Date:  1993-08       Impact factor: 11.105

10.  Cardiac histologic pathology characteristic of trisomies 13 and 21.

Authors:  D J Roberts; D Genest
Journal:  Hum Pathol       Date:  1992-10       Impact factor: 3.466

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