title: Is the diagnostic yield influenced by the indication for fetal autopsy?
abstract: The utility of fetal autopsy to corroborate antenatal ultrasound findings and to aid genetic counseling is well known. However, the ability to identify an underlying cause for the common indications for which it is performed is not well studied. This study aimed to determine if the diagnostic yield of fetal autopsy in identifying the underlying cause is determined by the indication of the autopsy. Five groups of fetuses were defined based on the indication for the autopsy performed in 903 cases: (i) malformations, (ii) intrauterine death (IUD), (iii) cystic hygroma and hydrops fetalis, (iv) isolated abnormalities of amniotic fluid, and (v) intrauterine growth restriction (IUGR). The highest diagnostic yield was in fetuses with isolated abnormalities of amniotic fluid (77%), followed by those with IUGR (75%), with IUD (69.6%), those in group five (55.2%) and lowest (45%) in fetuses with malformations (P < 0.001). A cause was identified in 77.8% fetuses with multiple malformations compared to 37.5% with isolated malformations (P < 0.001), with chromosomal abnormalities in 31.8% versus 9.9% respectively (P < 0.001) and malformation syndromes in 42.5% versus 26.3% (P < 0.001). Placental examination provided the highest yield in IUD, IUGR, and oligohydramnios (43.1%; P < 0.003) whereas chromosomal analysis was most useful in cystic hygroma/NIHF (28.9%; P < 0.001). This information on the diagnostic yield in fetal autopsy related its common indications, can be utilized to counsel families of the utility of autopsy to establish cause and recurrence risks and thereby assist then to make an informed decision to consent for the procedure. © 2016 Wiley Periodicals, Inc.
authors.affiliation: Center of Medical Genetics, Ganga Ram Institute of Postgraduate Medical Education and Research, Sir Ganga Ram Hospital, Rajinder Nagar, New Delhi, India.
authors.forename: Ratna Dua
authors.initials: RD
authors.lastname: Puri
authors.affiliation: Center of Medical Genetics, Ganga Ram Institute of Postgraduate Medical Education and Research, Sir Ganga Ram Hospital, Rajinder Nagar, New Delhi, India.
authors.forename: Udhaya
authors.initials: U
authors.lastname: Kotecha
authors.affiliation: Center of Medical Genetics, Ganga Ram Institute of Postgraduate Medical Education and Research, Sir Ganga Ram Hospital, Rajinder Nagar, New Delhi, India.
authors.forename: Meena
authors.initials: M
authors.lastname: Lall
authors.affiliation: Center of Medical Genetics, Ganga Ram Institute of Postgraduate Medical Education and Research, Sir Ganga Ram Hospital, Rajinder Nagar, New Delhi, India.
authors.forename: Pratima
authors.initials: P
authors.lastname: Dash
authors.affiliation: Center of Medical Genetics, Ganga Ram Institute of Postgraduate Medical Education and Research, Sir Ganga Ram Hospital, Rajinder Nagar, New Delhi, India.
authors.forename: Sunita
authors.initials: S
authors.lastname: Bijarnia-Mahay
authors.affiliation: Center of Medical Genetics, Ganga Ram Institute of Postgraduate Medical Education and Research, Sir Ganga Ram Hospital, Rajinder Nagar, New Delhi, India.
authors.forename: Ishwar Chander
authors.initials: IC
authors.lastname: Verma
mesh_terms: D000022:Abortion, Spontaneous; D001344:Autopsy / Q000379:methods; D002423:Cause of Death; D000013:Congenital Abnormalities; D005260:Female; D005313:Fetal Death / Q000209:etiology*; D005317:Fetal Growth Retardation; D006801:Humans; D011247:Pregnancy
keywords: abnormalities of amniotic fluid; diagnostic yield; fetal autopsy; indications; intrauterine death; intrauterine growth restriction; malformations; non-immune hydrops