Abstract | OBJECTIVE: To design a scheme to rank sonographic anomalies as indicators of aneuploidy and record the distribution of data from 2143 prenatal amniotic fluid/chorionic villous sample diagnoses referred for karyotyping because of fetal anomalies detected with ultrasound. METHODS: RESULTS: There were 412/2143 (19.2%) chromosome abnormalities detected in this sonographically abnormal group. Overall, the prevalence of aneuploidy significantly ranged from 51 to 3% according to the above I-VII ultrasound categories and from approximately 1-80% for individual ultrasound anomalies. Likelihood ratios were derived for many ultrasound anomalies for several aneuploidy groups: trisomies of 13; 18; and 21; 45,X and 45,X mosaics; triploidy; other autosomal duplications and/or deletions; and other (than 45,X) sex chromosomal aneuploidies. CONCLUSION: It is suggested this data could be used to assist pre-procedural counselling of patients after the ultrasound scan in tertiary referral centres for prenatal cytogenetic diagnosis.
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Authors | Art Daniel, Neil Athayde, Robert Ogle, Alice M George, Jonathan Michael, Mark D Pertile, Jennifer Bryan, Vapinder Jammu, Brian J Trudinger |
Journal | The Australian & New Zealand journal of obstetrics & gynaecology
(Aust N Z J Obstet Gynaecol)
Vol. 43
Issue 1
Pg. 16-26
(Feb 2003)
ISSN: 0004-8666 [Print] Australia |
PMID | 12755342
(Publication Type: Journal Article)
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Topics |
- Abnormalities, Multiple
(diagnostic imaging)
- Amniocentesis
- Aneuploidy
- Chorionic Villi Sampling
- Chromosome Aberrations
- Congenital Abnormalities
(diagnostic imaging)
- Female
- Humans
- Karyotyping
- Maternal Age
- Pregnancy
- Pregnancy, High-Risk
- Prenatal Diagnosis
- Prevalence
- Referral and Consultation
- Ultrasonography, Prenatal
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