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OP22.02: Shifting the focus of mid‐trimester fetal echocardiography to 11–14 week scan
Author(s) -
Lakshmy S.,
Rose N.,
Masilamani P.,
Umapathy S.,
Ziyaulla T.
Publication year - 2018
Publication title -
ultrasound in obstetrics and gynecology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.202
H-Index - 141
eISSN - 1469-0705
pISSN - 0960-7692
DOI - 10.1002/uog.19595
Subject(s) - medicine , fetal echocardiography , truncus arteriosus , pulmonary atresia , abnormality , tetralogy of fallot , cardiology , ventricle , great arteries , coarctation of the aorta , prenatal diagnosis , heart disease , aorta , radiology , fetus , pregnancy , genetics , psychiatry , biology
were eligible for inclusion. A logit transformed proportion for random-effects model (weighting by inverse of variance) was used. Heterogeneity between studies was assessed using the X2 (Cochrane Q), H and I2 statistics. Results: Six studies with a total of 846 stillborn fetuses with normal karyotyping were selected. Test success rate achieved by conventional cytogenetic analysis was 75%, while for CMA this rate increased to 90%. The incremental yield of CMA above conventional karyotyping was 4% (95%CI 2% 8%) for pathogenic copy number variants (CNV), and 8% (95%CI 3%–17%) for variants of unknown significance (VOUS). Significant heterogeneity was found among studies. The pathogenic CNVs most commonly found were del22q11.21, delXp22.3, and dup16p13.11. Conclusions: CMA, used in stillbirth work-up, improves both the test success rate and the detection of genetic anomalies of conventional karyotyping. To achieve a genetic diagnosis in stillbirth is particularly relevant for counselling purposes regarding future pregnancies.