Abstract
| Originalsprog | Engelsk |
|---|---|
| Tidsskrift | Ultrasound in Obstetrics & Gynecology |
| Vol/bind | 34 |
| Udgave nummer | 6 |
| Sider (fra-til) | 618-22 |
| Antal sider | 4 |
| ISSN | 0960-7692 |
| DOI | |
| Status | Udgivet - 2009 |
Bibliografisk note
Copyright 2009 ISUOG. Published by John Wiley & Sons, Ltd.Adgang til dokumentet
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I: Ultrasound in Obstetrics & Gynecology, Bind 34, Nr. 6, 2009, s. 618-22.
Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review
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TY - JOUR
T1 - Increased nuchal translucency with normal karyotype: a follow-up study of 100 cases supplemented with CGH and MLPA analyses
AU - Schou, K V
AU - Kirchhoff, M
AU - Nygaard, U
AU - Jørgensen, C
AU - Sundberg, K
N1 - Copyright 2009 ISUOG. Published by John Wiley & Sons, Ltd.
PY - 2009
Y1 - 2009
N2 - OBJECTIVE: To evaluate whether high-resolution comparative genomic hybridization (HR-CGH) and subtelomeric and syndrome-specific multiplex ligation-dependent probe amplification (MLPA) would detect minor chromosomal aberrations in fetuses with increased nuchal translucency thickness (NT) and normal karyotype on conventional karyotyping. METHODS: Chorionic villus samples from 100 fetuses with NT > or = 99(th) percentile and normal G-banding analysis and MLPA for detection of aneuploidies for chromosomes 13, 18, 21, X and Y were included. Examinations were supplemented by HR-CGH and MLPA for syndromes and subtelomeric regions. Pregnancy outcome was followed up. RESULTS: Among 80 liveborn children who were followed up, three (4%) had syndromes involving mental retardation, including a case of Sotos syndrome caused by a de novo mutation. 15% of fetuses were lost during pregnancy due to abnormalities and termination. The rate of adverse outcome overall was 18%. HR-CGH and MLPA did not detect any chromosomal aberrations associated with the syndromes. CONCLUSION: The rate of adverse outcome was similar to levels recorded in the literature. Using CGH and MLPA did not increase the detection rate of genetic disease, which supports the current approach of repeated ultrasound examinations in these high-risk pregnancies.
AB - OBJECTIVE: To evaluate whether high-resolution comparative genomic hybridization (HR-CGH) and subtelomeric and syndrome-specific multiplex ligation-dependent probe amplification (MLPA) would detect minor chromosomal aberrations in fetuses with increased nuchal translucency thickness (NT) and normal karyotype on conventional karyotyping. METHODS: Chorionic villus samples from 100 fetuses with NT > or = 99(th) percentile and normal G-banding analysis and MLPA for detection of aneuploidies for chromosomes 13, 18, 21, X and Y were included. Examinations were supplemented by HR-CGH and MLPA for syndromes and subtelomeric regions. Pregnancy outcome was followed up. RESULTS: Among 80 liveborn children who were followed up, three (4%) had syndromes involving mental retardation, including a case of Sotos syndrome caused by a de novo mutation. 15% of fetuses were lost during pregnancy due to abnormalities and termination. The rate of adverse outcome overall was 18%. HR-CGH and MLPA did not detect any chromosomal aberrations associated with the syndromes. CONCLUSION: The rate of adverse outcome was similar to levels recorded in the literature. Using CGH and MLPA did not increase the detection rate of genetic disease, which supports the current approach of repeated ultrasound examinations in these high-risk pregnancies.
U2 - 10.1002/uog.7468
DO - 10.1002/uog.7468
M3 - Journal article
C2 - 19953565
SN - 0960-7692
VL - 34
SP - 618
EP - 622
JO - Ultrasound in Obstetrics & Gynecology
JF - Ultrasound in Obstetrics & Gynecology
IS - 6
ER -