Author/Editor		L'Hermine-Coulomb, Aurore
Title		Methods for examination of small dysmorphic fetus
Type		članek
Source		In: Vizjak A, Ferluga D, Bussolati G, editors. Update in pathology. Proceedings of the 19th European congress of pathology: nephropathology pre-congress meeting advances in nephrology, pulmonary pathology pre-congress meeting; 2003 Sep 6-11; Ljubljana. Ljubljana: Faculty of medicine,
Publication year		2003
Volume		str. 341-1
Language		eng
Abstract		With the development of antenatal imagery (high resolution ultrasound (US), 3D US, antenatal MRI), cytogenetic techniques (fluorescent in situ hybridization (FISH), comparative genomic hybridization (CGH)), assisted reproduction technology (ART) (in vitro fertilization (IVF), intracytoplasmic sperm injection (ICSI), preimplantatory genetics), pathologists have to be competent in the examination of fetuses and to integrate this examination with the various aspects of development and molecular genetic. Fetuses come from termination of pregnancy, fetal loss or intrauterine death. Termination of pregnancy is related to chromosomal anomalies such as aneuploidy (trisomy 21, 18, 13), polyploidy such as triploidy or other structural anomalies detected in amniotic fluid or chorionic villous sample (CVS) performed for abnormalities on US. Termination of pregnancy may also be proposed because of severe malformations such as congenital cardiopathy, neural tube defect, bone dysplasia, renal cystic disease...and fetal examination has to integrate this anomaly into a syndrome and to determine its genetic, clastic or toxic origin. Fetal losses are related to infection, cervical incompetence, uterine malformation or less frequently to malformations which will be described. Intrauterine death can be associated with various pathology which will be identified by fetal examination. The method of fetuses examination is a multistep process including gross examination, measurements for evaluation of growth, photographies, radiological examination, internal examination and histological examination. According to the anomalies, chromosomal analysis, bacterial or viral cultures, metabolic studies can be performed on fetal tissue. In conclusion, the aim of fetal examination is to define fetal pathology in order to provide a meaningful genetic counselling. (Abstract truncated at 2000 characters).
Descriptors		PRENATAL DIAGNOSIS CHROMOSOME ABNORMALITIES FETAL DEATH ABORTION, INDUCED