Year: 2005
Type: conference-abstract
Abstract: A 29-year-old Caucasian female, pregnant for the second time, underwent ultrasound examination of her family and obstetric history: first pregnancy ended after 32-week stillborn fetus and her sister had a baby with trisomy 21. To specify the most appropriate safety method of Down syndrome antenatal screening. Routine ultrsonography at 7 weeks of pregnancy, selective ultrasonography for the detection of fetal abnormality at 12 weeks, triple test at 15 weeks, amniocentesis-amniotic fluid samples taken at 16 weeks from each of two sacs, parental and fetal chromosome analyses. Ultrasound examination revealed a twin dizygotic pregnancy with dichorionic placentas; one fetus showed an increased thickness of nuchal fold; boichemical maternal serum investigations revealed low AFP, low uE3 and high hCG levels; lymphocytes from both parents blood were analyzed for chromosomal abnormalities and showed a normal karyotype for the father (46,XY) and a chromosomal translocation for the mother (45,XX,−14,−21,+t(14q21q); the positive results of the tests and maternal chromosomal translocation suggested us to perform the amniocentesis; fetal chromosomal analysis showed twin 1 with normal karyotype 46,XY and twin 2 with abnormal karyotype 46,XX,+21. After extensive counseling the parents decided to terminate the pregnancy with Down syndrome. First-trimester nuchal translucency scan was a strong and useful screening tool for the prenatal detection of trisomy 21; family history, maternal chromosomal translocation and maternal serum biochemistry were also useful for selective termination of abnormal fetus.
DOI: 10.1002/uog.2245
Authors: D. F. Albu, C. Albu, E. Severin, A. Toma
Institution: Carol Davila University of Medicine and Pharmacy
Language: English
Field: Medicine
Domain: Health Sciences
Open Access status: bronze
OpenAlex ID: W1998494466