Screening for structural fetal anomalies during the nuchal translucency ultrasound examination. 2007

Zeev Weiner, and Israel Goldstein, and Allan Bombard, and Liat Applewhite, and Joseph Itzkovits-Eldor
Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, Rambam Medical Center, Haifa, Israel. zeweiner@hotmail.com

OBJECTIVE The purpose of this study was to evaluate the ability to screen for structural fetal anomalies during the nuchal translucency (NT) ultrasound examination, without performing a complete anatomic fetal scan, by using the sagittal views of the fetus. METHODS In a prospective study, we evaluated all the suspected structural findings observed during the NT examinations performed in our Division of Maternal-Fetal Medicine in 2004-2005. The purpose of the examination was to screen for fetal chromosome abnormalities by using the fetal NT measurements. However, the sonographers were instructed to pay attention to any abnormality observed while obtaining the sagittal views of the fetus. Other views were not to be obtained and fetal anatomy scan was performed only if a structural fetal anomaly was suspected when viewing the fetus in sagittal planes. When a structural fetal anomaly was suspected, a fetal anatomy scan was performed, and then a diagnosis was established at 14-16 weeks' gestation or later. RESULTS We performed 1723 NT examinations during the study period. The sonographers suspected structural fetal anomalies in 22 cases (1.3%), most of them performed between 11.2 and 13 weeks' gestation. Further evaluation of these cases diagnosed 9 fetuses (0.52%) with structural anomalies including: acrania, holoprosencephaly, Dandy-Walker syndrome, cerebellar agenesis, prune belly syndrome, 2 cases of omphalocele, and 2 cases of cleft lip. The NT was abnormal (greater than 3 mm) in only 1 case (omphalocele). None of the additional 8 cases diagnosed with structural anomalies had a positive maternal serum screening result for trisomy 21. Eight of these 9 fetal structural anomalies were sonographically confirmed at 14-16 weeks' gestation and the remaining 1 was confirmed at 20 weeks' gestation. An additional 13 noncardiac structural anomalies were detected in the study group during routine fetal anatomy scan performed at 14-16 or at 18-24 weeks' gestation. Four of these 9 fetal cardiac defects (44%) were diagnosed by an early fetal echocardiography performed for an increased fetal NT. CONCLUSIONS In addition to chromosomal anomalies and congenital cardiac defects, the NT examination can provide an opportunity to screen for structural fetal anomalies when viewing within the sagittal planes of the fetus. The NT examination can be used as a screening test for those who require an early fetal anatomy scan without performing an additional early anatomy scan to all patients.

UI MeSH Term Description Entries
D008875 Middle Aged An adult aged 45 - 64 years. Middle Age
D011446 Prospective Studies Observation of a population for a sufficient number of persons over a sufficient number of years to generate incidence or mortality rates subsequent to the selection of the study group. Prospective Study,Studies, Prospective,Study, Prospective
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000013 Congenital Abnormalities Malformations of organs or body parts during development in utero. Birth Defects,Congenital Defects,Deformities,Fetal Anomalies,Fetal Malformations,Abnormalities, Congenital,Defects, Congenital,Abnormality, Congenital,Anomaly, Fetal,Birth Defect,Congenital Abnormality,Congenital Defect,Defect, Birth,Defect, Congenital,Deformity,Fetal Anomaly,Fetal Malformation,Malformation, Fetal
D000293 Adolescent A person 13 to 18 years of age. Adolescence,Youth,Adolescents,Adolescents, Female,Adolescents, Male,Teenagers,Teens,Adolescent, Female,Adolescent, Male,Female Adolescent,Female Adolescents,Male Adolescent,Male Adolescents,Teen,Teenager,Youths
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
D048208 Nuchal Translucency Measurement A prenatal ultrasonography measurement of the soft tissue behind the fetal neck. Either the translucent area below the skin in the back of the fetal neck (nuchal translucency) or the distance between occipital bone to the outer skin line (nuchal fold) is measured. Nuchal Fold,Nuchal Fold Measurement,Nuchal Fold Screening,Nuchal Translucency,Nuchal Translucency Screening,Fold Measurement, Nuchal,Fold Measurements, Nuchal,Fold Screening, Nuchal,Fold Screenings, Nuchal,Measurement, Nuchal Fold,Measurement, Nuchal Translucency,Measurements, Nuchal Fold,Nuchal Fold Measurements,Nuchal Fold Screenings,Nuchal Translucency Measurements,Nuchal Translucency Screenings,Screening, Nuchal Fold,Screenings, Nuchal Fold,Translucency, Nuchal

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