The Role of Radiographs in Fetal Autopsy

Abstract

The main objective of performing a fetal autopsy is to identify the etiology of fetal loss. This provides an explanation about the fetal loss to the members of the family and helps them adjust to their loss and cope with the unexpected bereavement. Requesting the family for fetal autopsy is an emotionally charged situation, as the fetal loss occurs in a setting where the family is looking forward to the birth of a normal neonate. The treating obstetrician with whom the family members have been associated, and have the utmost faith in, is the most appropriate person to obtain the consent for a detailed examination of the fetus. For this task, the obstetrician should know about the procedure and be informed about the utility of fetal autopsy to ascertain an etiology, which is necessary to counsel for recurrence risks and future reproductive options. There are many publications supporting the utility of fetal autopsy in confirming/altering the antenatal diagnosis and helping in the counseling of the families for future reproductive options [1–3]. It thus serves as an audit for the services provided by the department of fetal medicine [4, 5]. In cases with malformations that do not conform to a syndrome, autopsy provides valuable information for the discovery of new syndromes and for defining their etiopathogenesis [6]. In most publications from the West that examine the agreement between the observations at autopsy and antenatal diagnosis, the antenatal scans have been performed by persons with expertise in fetal ultrasounds. Vogt et al. [5] compared the results with previous studies and noted a statistically significant improvement in overall detection of fetal anomalies on antenatal ultrasound. The improved technology and better diagnostic competence were the main reasons for this observation. India is a vast country and the current scenario here is different. Fetal medicine is a relatively new specialty and there are only a few specialized centers in the country. The quality of antenatal scans is therefore variable. This makes fetal autopsy valuable for making a correct diagnosis and counseling families as well as improving professional competence. The standard protocol for fetal autopsy includes collecting information about the family, obstetrical and medical history, details of imaging, results of screening for aneuploidy, and invasive testing, if performed, and other investigations that have been carried out. As Desilets et al. [7] state ‘‘observe everything from head to toe including dysmorphism, malformations, deformations,’’ and photograph anything ‘‘out of the normal.’’ Weigh and measure everything that can be weighed and measured, and compare with normal values. Internal examination is performed as per standard procedure [8, 9], with macroscopic and histology evaluation. Special tests such as for storage disorders, infections, and hematologic disorders are carried out as indicated. Radiographs form an important part of fetal autopsy and some advocate it in every fetal death [10], whereas others use it only in cases of nonchromosomal fetal anomalies [6]. One of the very early studies in India by Pahi et al. [11] concluded that a revised diagnosis by fetal autopsy changed recurrence risk in 29.5 % of cases. In 12 of 21 cases where there was a change in diagnosis after fetal autopsy, a noninvasive external examination and radiographs were useful. There are many situations where a standard fetal autopsy cannot be performed. It may be due to the family not consenting for autopsy, the clinician not being able to R. D. Puri (&) I. C. Verma Center of Medical Genetics, Sir Ganga Ram Hospital, Rajinder Nagar, New Delhi 110060, India e-mail: ratnadpuri@yahoo.com