Increased nuchal translucency in fetuses with a normal karyotype-diagnosis and management: An observational study. 2017

Demetra Socolov, and Razvan Socolov, and Vlad Eusebiu Gorduza, and Tudor Butureanu, and Ruxandra Stanculescu, and Alexandru Carauleanu, and Ioana Pavaleanu
Department of Mother and Child Medicine, University of Medicine and Pharmacy Gr. T. Popa Iasi Hospital of Obstetrics and Gynecology Elena Doamna-Iasi Human Genetics Department, University of Medicine and Pharmacy Gr. T. Popa Iasi University of Medicine and Pharmacy Carol Davila-Bucharest, Romania.

The use of nuchal translucency (NT) in 1992 by Nicolaides et al was a major breakthrough in screening for chromosomal aneuploidies at the end of the first trimester. However, pathological conditions other than chromosomal aneuploidies are also associated with increased NT, which can also be detected in normal fetuses. This study sought to evaluate the causes of this ultrasound sign in a group of patients from Iasi, Romania.During the decade-long study period, there were 71 certified cases involving increased NT; the patients in these cases underwent diagnostic amniocentesis and karyotyping.In most of the examined cases (55 cases, 78%), there was no aneuploidy. The remaining cases involved trisomy 21 (T21) (18%), trisomy 18 (T18) (2%), or triploidy (2%). In most cases, the indication for amniocentesis was increased NT alone (81%), whereas the remaining cases also involved advanced maternal age (5.5%), abnormal serologic markers (10%), or other ultrasound signs (3.5%) (2 cases-cardiac anomalies and fetal hydrops). A favorable pregnancy outcome at term was achieved in 40 cases (56% from total, 72% from euploid pregnancies); kidney anomalies or nonlethal cardiac conditions were observed in 12 cases (17%), 6 of which involved complications associated with premature onset of labor, and miscarriages occurred in 6 cases. Three cases were lost at follow-up.Although it is common practice to assume that increased NT is an indication for amniocentesis, both literature results and our study findings indicate that the majority of cases with increased NT involve no aneuploidy and result in a favorable outcome if no other anomaly is present. Better evidence-based management of such cases could be promoted by conducting larger, multicenter studies, and following cases for longer periods.

UI MeSH Term Description Entries
D007621 Karyotyping Mapping of the KARYOTYPE of a cell. Karyotype Analysis Methods,Analysis Method, Karyotype,Analysis Methods, Karyotype,Karyotype Analysis Method,Karyotypings,Method, Karyotype Analysis,Methods, Karyotype Analysis
D011247 Pregnancy The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH. Gestation,Pregnancies
D011256 Pregnancy Outcome Results of conception and ensuing pregnancy, including LIVE BIRTH; STILLBIRTH; or SPONTANEOUS ABORTION. The outcome may follow natural or artificial insemination or any of the various ASSISTED REPRODUCTIVE TECHNIQUES, such as EMBRYO TRANSFER or FERTILIZATION IN VITRO. Outcome, Pregnancy,Outcomes, Pregnancy,Pregnancy Outcomes
D005260 Female Females
D005315 Fetal Diseases Pathophysiological conditions of the FETUS in the UTERUS. Some fetal diseases may be treated with FETAL THERAPIES. Embryopathies,Disease, Fetal,Diseases, Fetal,Embryopathy,Fetal Disease
D005500 Follow-Up Studies Studies in which individuals or populations are followed to assess the outcome of exposures, procedures, or effects of a characteristic, e.g., occurrence of disease. Followup Studies,Follow Up Studies,Follow-Up Study,Followup Study,Studies, Follow-Up,Studies, Followup,Study, Follow-Up,Study, Followup
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000328 Adult A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available. Adults
D000649 Amniocentesis Percutaneous transabdominal puncture of the uterus during pregnancy to obtain amniotic fluid. It is commonly used for fetal karyotype determination in order to diagnose abnormal fetal conditions. Amniocenteses
D000782 Aneuploidy The chromosomal constitution of cells which deviate from the normal by the addition or subtraction of CHROMOSOMES, chromosome pairs, or chromosome fragments. In a normally diploid cell (DIPLOIDY) the loss of a chromosome pair is termed nullisomy (symbol: 2N-2), the loss of a single chromosome is MONOSOMY (symbol: 2N-1), the addition of a chromosome pair is tetrasomy (symbol: 2N+2), the addition of a single chromosome is TRISOMY (symbol: 2N+1). Aneuploid,Aneuploid Cell,Aneuploid Cells,Aneuploidies,Aneuploids,Cell, Aneuploid,Cells, Aneuploid

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