DOI: http://dx.doi.org/10.18203/2320-1770.ijrcog20204832

Increased nuchal translucency: it’s not just aneuploidy

Reema Kumar Bhatt, Pranjali Dwivedi, Anubhuti Rana

Abstract


Nuchal translucency (NT) measurement between 11- and 14-weeks’ gestation is an established and consistently performing marker for chromosomal abnormalities, including trisomy 21. Even in the absence of aneuploidy in the event of normal conventional karyotyping or microarray analysis, increased NT is prognosticative of adverse pregnancy outcome, because it is associated with miscarriages, congenital heart defects, several fetal malformations, many genetic syndromes, skeletal dysplasia’s, intrauterine death; the majority of these structural anomalies are undetectable before birth. The parents should be reassured that in the absence of any abnormality detected the fetus will have a normal uneventful outcome and postnatal development when compared to the general population outcome.


Keywords


Nuchal translucency (NT), Chromosomal abnormalities, First trimester screening, Genetic syndromes, Euploid fetus

Full Text:

PDF

References


Domenico RD, Faraci M, Hyseni E, Fosca A. F. Di Prima FAFD, Valenti O, Monte S, Giorgio, Renda E. Increased nuchal traslucency in normal karyotype fetuses. J Prenat Med. 2011;5(2):23–26.

Souka AP, Von Kaisenberg CS, Hyett JA, Sonek JD, Nicolaides KH. Increased nuchal translucency with normal karyotype. Am J Obstet Gynecol. 2005;192(4):1005–21.

Bilardo CM, Muller MA, Pajkrt E, Clur SA, van Zalen MM, Bijlsma EK. Increased nuchal translucency thickness and normal karyotype: time for parental reassurance. Ultrasound Obstet Gynecol. 2007;30(1):11–8.

Senat MV, Bussieres L, Couderc S, Roume J, Rozenberg P, Bouyer J, et al. Long-term outcome of children born after a first-trimester measurement of nuchal translucency at the 99th percentile or greater with normal karyotype: a prospective study. Am J Obstet Gynecol. 2007;196(1):53e1–6.

Senat MV, De Keersmaecker B, Audibert F, Montcharmont G, Frydman R, Ville Y. Pregnancy outcome in fetuses with increased nuchal translucency and normal karyotype. Prenat Diagn. 2002;22(5):345–9.

Cheng CC, Bahado-Singh RO, Chen SC, Tsai MS. Pregnancy outcomes with increased nuchal translucency after routine Down syndrome screening. Int J Gynaecol Obstet. 2004;84(1):5–9.

Senat MV, Bussieres L, Couderc S, Roume J, Rozenberg P, Bouyer J, et al. Long-term outcome of children born after a first-trimester measurement of nuchal translucency at the 99th percentile or greater with normal karyotype: a prospective study. Am J Obstet Gynecol. 2007;196(1):53e1–6.

Makhseed M, Pacsa A, Ahmed A, et al: Pattern of parvovirus B19 infection during different trimesters of pregnancy in Kuwait. Infect Dis Obstet Gynecol. 1999;7:287–92.

Sebire NJ, Bianco D, Snijders RJ, Zuckerman M, Nicolaides KH. Increased fetal nuchal translucency thickness at 10–14 weeks: is screening for maternal–fetal infection necessary?. Int J Obstet Gynaecol. 1997;104(2):212-5.

Montenegro N, Matias A, Areias JC, Castedo S, Barre H. Increased fetal nuchal translucency: possible involvement of early cardiac failure. Ultrasound in Obstetrics and Gynecology: J Int Soc Ultrasou Obstet Gynecol. 1997;10(4):265-8.

Matias A, Huggon I, Areias JC, Montenegro N, Nicolaides KH. Cardiac defects in chromosomally normal fetuses with abnormal ductus venosus blood flow at 10–14 weeks. J Int Soc Ultrasou Obstet Gynecol. 1999;14(5):307-10.

Riipinen A, Väisänen E, Nuutila M, Sallmen M, Karikoski R, Lindbohm ML, et al. Parvovirus b19 infection in fetal deaths. Clinical infectious diseases. 2008;47(12):1519-25.

Nyman M, Tolfvenstam T, Petersson K. Detection of human parvovirus B19 infection in first-trimester fetal loss. Obstet Gynecol 2002;99:795–8.

Beigi RH, Wiesenfeld HC, Landers DV, Simhan HN. High rate of severe fetal outcomes associated with maternal parvovirus b19 infection in pregnancy. Infect Diseas Obstet Gynecol. 2008;2008.

Hsu ST, Chen YT, Huang YF, Yeh TT, Chen WC, Ho ES, et al: Prenatal diagnosis and perinatal management of maternal-fetal congenital parvovirus B19 infection. Taiwan J Obstet Gynecol. 2007;46:417–22.

Tongsong T, Tongprasert F, Srisupundit K, Luewan S. Venous Doppler studies in low-output and high-output hydrops fetalis. Am J Obstet Gynecol. 2010;203:488,e1–6.

Al-Khan A, Caligiuri A, Apuzzio J. Parvovirus B-19 infection during pregnancy. Infect Dis Obstet Gynecol. 2003;11:175–9.

Bentires-Alj M, Kontaridis MI, Neel BG. Stops along the RAS pathway in human genetic disease. Nat Med. 2006;12:283–5.

Tidyman WE, Rauen KA. The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation. Curr Opin Genet Dev. 2009;19:230–6

Theintz G, Savage MO. Growth and pubertal development in five boys with Noonan's syndrome. Arch Dis Child. 1982;57:13–7.

Elsawi MM, Pryor JP, Klufio G, Barnes C, Patton MA. Genital tract function in men with Noonan syndrome. J Med Genet. 1994;31:468–70.

Sommerschild HC, Soerland SJ. Urinary tract malformations in Noonan syndrome. Z Kinderchir. 1974;14:422–5.

Nisbet DL, Griffin DR, Chitty LS. Prenatal features of Noonan syndrome. Prenat Diagn. 1999;19:642–7.

Witt DR, McGillivray BC, Allanson JE, Hughes HE, Hathaway WE, Zipursky A, Hall JG. Bleeding diathesis in Noonan syndrome: a common association. Am J Med Genet. 1988;31:305–17.

Noonan JA. Noonan syndrome: an update and review for the primary pediatrician. Clin Pediatr (Phila) 1994;33:548–55.

Bottner F, Sandmann C, Semik M, Ramm O, Winkelmann W, Liljenqvist U. Chylothorax after surgery for thoracic deformity in Noonan syndrome. Orthopedics. 2005;28:71–3.

Zhen LY. Zhang DZ. Prenatal DNA diagnosis of Noonan syndrome in a fetus with increasednuchal translucency using next-generation sequencing. 2016;201:229–30

Maymon R1, Weinraub Z, Herman A. Pregnancy outcome of euploid fetuses with increased nuchal translucency: how bad is the news? J Perinat Med. 2005;33(3):191-8.