Perinatal autopsy evaluation of 2150 autopsies in the Çukurova region of turkey

Abstract

Objective: We aimed to document the reasons of perinatal deaths in a large autopsy series performed in our institute, which is a reference center in the Çukurova region of Turkey. Material and Method:The study included 2150 autopsies performed between January 2000 and December 2012at our institute. Diagnoses were categorized according to the detected pathologies; congenital malformations were detailed based on systems. Results:A pathology was detected in 1619 of 2150 (73.3%) autopsies. Congenital malformations were the most common diagnosis with 68.2%. Neural tube defects and central nervous system malformations were the most frequent system malformation in 28.8% of cases, followed by the urogenital system (11.4%) and musculoskeletal system (8.3%), respectively. Malformation syndromes including multisystem anomalies were defined in 109 cases (9.3%). Conclusion:Congenital malformations are the most common reason for perinatal deaths, with autopsy having an additive role to prenatal and genetic evaluations and providing foresight for planning a subsequent pregnancy. Sonuç: Fetal otopsi prosedürü, son yıllarda sayısal düşüş göstermekle birlikte, özellikle gebelik beklentisi olan kişiler için, prenatal tarama yöntemlerine tanısal katkısı olmakta ve malformasyonun yineleme olasılığı hakkında öngörü sağlamaktadır.

Rapid whole genome sequencing and precision neonatology

“…This is likely a considerable underestimate given lack of NGS at that time. Infants with recognizable genetic disorders have disproportionately longer hospitalizations and more frequent neonatal death[15–20]. …”

Whole-Exome Sequencing and Whole-Genome Sequencing in Critically Ill Neonates Suspected to Have Single-Gene Disorders

“…Of 23,910 recorded infant deaths, 66% were in the neonatal period, of which the leading cause was congenital malformations, deformations, and chromosomal abnormalities (20.8%) . Recognizable genetic disorders are disproportionately represented in infants with longer hospitalizations and more frequent neonatal death (Cunniff et al 1995;Yoon et al 1997;Zlotogora et al 2003;McCandless et al 2004;Simpson et al 2010;Acikalin et al 2014). …”

Perinatal Diagnostic Approach to Fetal Skeletal Dysplasias: Six Years Experience of a Tertiary Center

“…Based on Hakverdi et al's report, 36 of 274 cases (22.5%) were associated with musculoskeletal anomalies [20]. In Acikalin et al's study, 2150 fetal autopsies were reported and 97 of 2150 (8.3%) cases had musculoskeletal anomalies [21]. Thus, as there is no available data to compare the frequencies of SDs, our series is limited on the skeletal dysplasias, and discusses intensive genetic, radiologic and morphologic features.…”

“…ACH and hypochondroplasia dysplasias not only exhibit phenotypic but also genetic features. Ninety-nine percent of ACH dysplasias have two common FGFR3 gene mutations in p.Gly380Arg amino acid substitutions and, 10% of ACH is caused by p.Asn540Lys which is typical for hypochondroplasias [21]. However, 7% of hypochondroplasia cases are shown to have p.Gly380Arg mutation [23].…”