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OBJECTIVES: The objective of this study is to analyze the second-trimester fetal autopsies and to reemphasize the role of autopsy by comparing autopsy findings with prenatal ultrasound observations. MATERIALS AND METHODS: Retrospective analysis of second-trimester fetal autopsies over a period of 7.5 years (January 2009–June 2016). A standard protocol of autopsy procedure was followed, which included external examination with photography, X-ray, internal examination, and histopathological examination. In fetuses with congenital malformations (CMs), the findings of prenatal ultrasonogram and autopsy examination were compared. RESULTS: We analyzed a total of 66 fetuses, which includes 17 intrauterine fetal death, 49 terminations for CM, and increased risk for chromosomal abnormality. In fetuses with CM, multiple anomalies were more common than a single anomaly. The most common anomalies were seen involving central nervous system (neural tube defect) followed by the genitourinary system. Autopsy confirmed prenatal ultrasound findings in all cases except three. Complete agreement between USG findings and autopsy were seen in 17 cases (39.7%). Additional findings on autopsy were noted in 25 cases (62.2%). Among these, 15 cases had a significant change of recurrence risk due to altered initial ultrasound diagnosis. CONCLUSION: Fetal autopsy plays an important role in arriving at the final diagnosis and detecting the cause of death. This information is very essential for the clinicians, in genetic counseling of the parents, and management of future pregnancies.

OBJECTIVES: The objective of this study is to analyze the second-trimester fetal autopsies and to reemphasize the role of autopsy by comparing autopsy findings with prenatal ultrasound observations. MATERIALS AND METHODS: Retrospective analysis of second-trimester fetal autopsies over a period of 7.5 years (January 2009–June 2016). A standard protocol of autopsy procedure was followed, which included external examination with photography, X-ray, internal examination, and histopathological examination. In fetuses with congenital malformations (CMs), the findings of prenatal ultrasonogram and autopsy examination were compared. RESULTS: We analyzed a total of 66 fetuses, which includes 17 intrauterine fetal death, 49 terminations for CM, and increased risk for chromosomal abnormality. In fetuses with CM, multiple anomalies were more common than a single anomaly. The most common anomalies were seen involving central nervous system (neural tube defect) followed by the genitourinary system. Autopsy confirmed prenatal ultrasound findings in all cases except three. Complete agreement between USG findings and autopsy were seen in 17 cases (39.7%). Additional findings on autopsy were noted in 25 cases (62.2%). Among these, 15 cases had a significant change of recurrence risk due to altered initial ultrasound diagnosis. CONCLUSION: Fetal autopsy plays an important role in arriving at the final diagnosis and detecting the cause of death. This information is very essential for the clinicians, in genetic counseling of the parents, and management of future pregnancies. [ABSTRACT FROM AUTHOR]

Ectodermal dysplasia are group of inherited disorders involving the developmental defects of ectodermal structures like hair, teeth, nails, sweat glands, and others. X-linked recessive inheritance is most common. Here we describe perinatal autopsy findings in a case of de novo ectodermal dysplasia in a female fetus. To the best of our knowledge, this is the first fetal autopsy description in a case of ectodermal dysplasia.

Thanatophoric dysplasia type 1 is a lethal congenital anomaly with skeletal dysplasia. It is characterized by short limb dwarfism, enlarged head with frontal bossing, short neck, protuberant abdomen. It is detected in early gestational period by ultrasonography. The other associated anatomical abnormalities and characteristic laboratory findings aid in the early diagnosis and further work-up.

Ectodermal dysplasia are group of inherited disorders involving the developmental defects of ectodermal structures like hair, teeth, nails, sweat glands, and others. X-inked recessive inheritance is most common. Here we describe perinatal autopsy findings in a case of de novo ectodermal dysplasia in a female fetus. To the best of our knowledge, this is the first fetal autopsy description in a case of ectodermal dysplasia. [ABSTRACT FROM AUTHOR]

Thanatophoric dysplasia type 1 is a lethal congenital anomaly with skeletal dysplasia. It is characterized by short limb dwarfism, enlarged head with frontal bossing, short neck, protuberant abdomen. It is detected in early gestational period by ultrasonography. The other associated anatomical abnormalities and characteristic laboratory findings aid in the early diagnosis and further work-up. [ABSTRACT FROM AUTHOR]