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Re: Nuchal II From: James S Smeltzer MD (gaperina@mindspring.com) Wed Jan 27 06:48:01 1999 Messages sorted by: [ date ][ thread ][ subject ][ author ] Next message: James S Smeltzer MD: "Re: US markers for fetal anemia" Previous message: Andrea Corda: "Yolk sac size and early pregnancy failure" In reply to: Y.A. Jones RDMS: "Re: Nuchal II" Hi Y, The usual nuchal lucency thickness at 10-14 weeks that should prompt serious consideration of genetic testing is 3 mm, or less (2mm?) if the person is near age 35 anyway, IMHO. This is what we use. The 6mm cut-off (much less sensitive and specific) is for 16+ weeks. I believe others have related this to fetal age within this range and maternal age, which alters the prior risk, as well. Jim Smeltzer MD See also: Title Increased nuchal translucency as a marker for fetal chromosomal defects [see comments] Author Taipale P; Hiilesmaa V; Salonen R; Yl¨ostalo P Address Department of Obstetrics and Gynecology, Jorvi Hospital, Espoo, Finland. Source N Engl J Med, 337(23):1654-8 1997 Dec 4 Abstract BACKGROUND: Screening for trisomy 21 (Down's syndrome) by measuring maternal serum alpha-fetoprotein, chorionic gonadotropin, and estriol concentrations and then performing chorionic-villus sampling or amniocentesis identifies approximately 60 percent of fetuses with this disorder. We used ultrasonography to detect increased nuchal translucency and cystic hygroma, which are characteristic features of fetuses with chromosomal defects. METHODS: We performed transvaginal ultrasonography in 10,010 unselected adolescents and women less than 40 years of age with live singleton fetuses at 10 to 15.9 weeks of gestation. Increased fetal nuchal translucency was defined as an area of translucency at least 3 mm in width, and cystic hygromas were defined as septated, fluid-filled sacs in the nuchal region. Subjects whose fetuses had these findings were offered fetal karyotyping. Information on pregnancies, deliveries, and neonates was subsequently obtained from hospital records and national birth and malformation registries. RESULTS: Nuchal translucency or cystic hygroma was seen in 76 fetuses (0.8 percent), of which 18 (24 percent) had an abnormal karyotype. The sensitivity for trisomies 21, 18, and 13 combined was 62 percent (13 of 21 fetuses), and the sensitivity for trisomy 21 alone was 54 percent (7 of 13 fetuses). CONCLUSIONS: The use of transvaginal ultrasonography to detect increased nuchal translucency and cystic hygroma is a sensitive test for fetal aneuploidy. It can be done earlier in pregnancy than serum screening, and it decreases the subsequent need for chorionic-villus sampling or amniocentesis. Language Eng Unique Identifier 98035972 http://www.infotrieve.com/healthworld/std_format.cgi?med96-97+54016+(nuchal) +AND+(chromosome)+AND+(fetus):MH At 08:58 AM 1/23/1999 -0600, you wrote: >At Fri, 8 Jan 1999, art fougner, md wrote: >> >>Hot off the Presses!!! >> >>http://www.bmj.com/cgi/content/full/318/7176/81 >> >>basically, nuchal translucency screening also picks up about 50% of >>fetuses with congenital heart disease. Have a look! >> >>Art >> >>-- >>art fougner, md >>SonoScan/Genetic Sciences >>forest hills, ny >>evsono@pipeline.com >> >We are currently using a cut off of 5mm to definitively sugest genetic >testing. However, we had a case of .4mm at 12 weeks, she was ama, and >proceded with amniocentesis only for dx of ama, + trisomy 21. What ar >the current standards for risk per mm of increase, septations, age, >etc.? Are you aware of any standards published. We don't wish to miss >anything obviously, but nor do we care to overly alarm our mothers and >subject them to invasive testing when the odds are low. > Next message: James S Smeltzer MD: "Re: US markers for fetal anemia" Previous message: Andrea Corda: "Yolk sac size and early pregnancy failure" In reply to: Y.A. Jones RDMS: "Re: Nuchal II"

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