Abstract
The objective of this study was to review literature about the correlation between
fetal autopsy and ultrasound findings of fetal malformations. Search in PubMed, Medline,
EMBASE, Clinicl trials.org, reference list was performed. Inclusion criteria for studies
selection were: fetal autopsy performed after termination of pregnancy (TOP) or stillbirth,
TOP for fetal anomalies, prenatal diagnosis of malformations, data reported as proportional
rates. Exclusion criteria: case reports, non English language, data reported in graphs
or percentage. From each article: sample size, type of malformation, indication for
TOP, autopsy findings. Fetal anomalies were grouped in central nervous system (CNS),
genitourinary (GU), congenital heart defects (CHD), gastrointestinal (GI), thorax,
limbs, skeleton, genetics (TOP for abnormal karyotype), multiples (TOP for multiple
severe malformations for which a single indication for TOP/stillbirth could not be
identified). Correspondence between autopsy and ultrasound was defined as agreement
(same diagnosis), additional (additional findings undetected by ultrasound), unconfirmed
(false positive and false negative ultrasound). PRISMA guidelines were followed. From
19 articles, 3534 fetuses underwent autopsy, which confirmed prenatal ultrasound in
2401 (68.0%) fetuses, provided additional information in 794 (22.5%) fetuses, and
unconfirmed prenatal ultrasound in 329 (9.2%) fetuses. The latter group consisted
of 3.2% false positive and 2.8% false negative cases. The additional findings changed
the final diagnosis in 3.8% of cases. The most frequent indication for TOP/stillbirth
was CNS anomalies (36.3%), whereas thorax anomalies represented the less frequent
indication (1.7%). The highest agreement between autopsy and prenatal ultrasound was
observed in CNS (79.4%) and genetics (79.2%), followed by GU anomalies (76.6%), skeleton
(76.6%), CHD (75.5%), thorax (69.7%); GI (62.6%), multiple (37.0%), limbs (23.3%).
In spite of the high agreement between prenatal ultrasound and autopsy, fetal examination
is mandatory because in a minority of cases it discloses additional findings or changes
the final diagnosis and genetic counselling.
Keywords
To read this article in full you will need to make a payment
Purchase one-time access:
Academic & Personal: 24 hour online accessCorporate R&D Professionals: 24 hour online accessOne-time access price info
- For academic or personal research use, select 'Academic and Personal'
- For corporate R&D use, select 'Corporate R&D Professionals'
Subscribe:
Subscribe to European Journal of Obstetrics and Gynecology and Reproductive BiologyAlready a print subscriber? Claim online access
Already an online subscriber? Sign in
Register: Create an account
Institutional Access: Sign in to ScienceDirect
References
- Correlation of prenatal ultrasound diagnosis and morphological findings of fetal autopsy.Pathol Res Pract. 1998; 194: 721-724
- Comparison between prenatal ultrasound and postmortem findings in fetuses and infants with developmental anomalies.Ultrasound Obstet Gynecol. 2012; 39: 666-672
- Correlation between prenatal ultrasound and fetal autopsy findings in fetal anomalies terminated in the second trimester.Prenat Diagn. 2007; 27: 457-462
- Correlation between prenatal diagnosis by ultrasound and fetal autopsy findings in second-trimester abortions.Acta Obstet Gynecol Scand. 2012; 91: 386-390
- Autopsy after termination of pregnancy for fetal anomaly: retrospective cohort study.BMJ. 2004; 328: 137
- Correlation between prenatal ultrasound and autopsy findings: a study of second-trimester abortions.Ultrasound Obstet Gynecol. 2006; 28: 925-933
- A correlative study of prenatal ultrasound and post-mortem findings in fetuses and infants with an abnormal karyotype.Ultrasound Obstet Gynecol. 2000; 16: 37-45
- Correlation of prenatal sonographic diagnosis and morphologic findings of fetal autopsy in fetuses with trisomy 21.J Ultrasound Med. 2007; 26 (quiz 9–70): 61-68
- Genetics Committee of the Society of O, Gynaecology C, Family Physicians Advisory C, Medico-Legal Committee of the S. Fetal and perinatal autopsy in prenatally diagnosed fetal abnormalities with normal karyotype.J Obstet Gynaecol Can. 2011; 33: 1047-1057
- Correlation of prenatal ultrasound diagnosis and pathologic findings in fetal brain abnormalities.Ultrasound Obstet Gynecol. 2000; 16: 149-153
- Clinical utility of fetal autopsy and comparison with prenatal ultrasound findings.J Perinatol. 2006; 26: 224-229
- Comparison of ultrasound and autopsy findings in pregnancies terminated due to fetal anomalies.Acta Obstet Gynecol Scand. 2006; 85: 1208-1216
- Concordance between prenatal ultrasound and autopsy findings in a tertiary center.Prenat Diagn. 2014; 34: 784-789
- Agreement between prenatal ultrasonography and fetal autopsy findings: a retrospective study of second trimester terminations of pregnancy.Ultraschall in der Medizin. 2012; 33: E31-E37
- A comparative study of prenatal ultrasound findings and post-mortem examination in a tertiary referral centre.Prenat Diagn. 2004; 24: 339-346
- Correlation between prenatal ultrasound and postmortem findings in 1029 fetuses following termination of pregnancy.Ultrasound Obstet Gynecol. 2015;
- Correlation between referral ultrasound with suspected foetal anomalies and autopsy examination in two prenatal diagnosis centres. Impact of the routine use of 3D/4D scan.Prenat Diagn. 2008; 28: 191-196
- Correlation between ultrasound and autopsy findings after 2nd trimester terminations of pregnancy.J Perinat Med. 2008; 36: 59-69
- The role of autopsy following pregnancy termination for fetal abnormality.Aust N Z J Obstet Gynaecol. 2007; 47: 445-449
- Correlation between ultrasound diagnosis and autopsy findings of fetal malformations.J Prenat Med. 2012; 6: 13-17
- Antenatal ultrasound and postnatal autopsy findings in terminations after 12 weeks’ gestation due to fetal abnormality: population-based study in Western Norway, 1988–2002.Acta Radiol. 2009; 50: 816-822
- Cardiac malformations in first-trimester fetuses with increased nuchal translucency: ultrasound diagnosis and postmortem morphology.Ultrasound Obstet Gynecol. 2002; 20: 14-21
- Prenatal examination and postmortem findings in fetuses with gastroschisis and omphalocele.Prenat Diagn. 2014; 34: 570-576
- Detection of malformations in chromosomally normal fetuses by routine ultrasound at 12 or 18 weeks of gestation-a randomised controlled trial in 39,572 pregnancies.BJOG. 2006; 113: 664-674
- Correlation of prenatal ultrasound diagnosis and pathologic findings in fetal anomalies.Pediatr Dev Pathol. 1999; 2: 131-142
- Critical evaluation of elective termination of pregnancy in a tertiary fetal medicine center during 43 months: correlation of prenatal diagnosis findings and postmortem examination.Prenat Diagn. 2006; 26: 1084-1088
Article info
Publication history
Published online: December 30, 2016
Accepted:
December 19,
2016
Received in revised form:
November 30,
2016
Received:
August 17,
2016
Identification
Copyright
© 2016 Elsevier Ireland Ltd. All rights reserved.
