Systematic fetal autopsy in cases of medical termination of pregnancy due to chromosomal abnormalities: improving the quality of perinatal care?
OBJECTIVE
Evaluation of the clinical utility of systematically performing autopsy after termination of pregnancy (TOP) due to chromosomal abnormalities.


METHODS
A retrospective study of cases of TOP due to chromosomal abnormalities was performed between 1 January 2002 and 30 September 2007, in a tertiary referral hospital. A comparative study between prenatal ultrasonographic findings and postmortem findings was performed.


RESULTS
There were 57 cases of TOP due to chromosomal abnormalities. The median gestational age at TOP was 17 (range 14-24 weeks). There were 46 trisomies, 4 monosomies, 4 triploidies and 3 cases of structural anomalies. In 25 cases (43.9%) there was at least one major anomaly detected by ultrasound. In 15 cases (26.3%) additional information was obtained after fetal autopsy: in 7 cases further major structural anomalies were detected, and in 8 cases the presence of a major abnormality was not confirmed by the autopsy.


CONCLUSIONS
Fetal autopsy may provide additional information to the ultrasonographic morphological evaluation of the fetus submitted to TOP due to chromosomal abnormalities. The combination of prenatal ultrasound and pathological examination can broaden our knowledge of the natural history of chromosomal anomalies in the earlier stages of development and eventually contribute to improve the quality of perinatal care.
Ramalho
C
C
Center of Prenatal Diagnosis, Department of Gynecology and Obstetrics, Hospital São João, Medical Faculty of Porto, Portugal. carlaramalho@med.up.pt
Brandão
O
O
Matias
A
A
Montenegro
N
N
D000025:Abortion, Eugenic; D001344:Autopsy / Q000379:methods*; D002869:Chromosome Aberrations / Q000196:embryology*; D005260:Female; D005333:Fetus / Q000002:abnormalities*; D005817:Genetic Counseling; D005865:Gestational Age; D006801:Humans; D008423:Maternal Age; D018743:Perinatal Care / Q000592:standards*; D011247:Pregnancy; D012189:Retrospective Studies; D016216:Ultrasonography, Prenatal