Fetal minör anomali saptanan olguların prenatal ve postnatal sonuçlarının değerlendirilmesi

Yıl 2019, Cilt: 50 Sayı: 2, 28 - 34, 15.06.2019

Doğan Vatansever Gözde Yeşil Burak Giray Vedat Dayıcıoğlu

https://doi.org/10.16948/zktipb.541396

Öz

Amaç:
Ultrasonografide gözlenen minör belirteçlerin artmış anöploidi riskiyle
ilişkili olduğu düşünülmektedir. Çalışmamızda ikinci düzey ultrasonografi
sırasında saptanan minör belirteç izlenmiş olguların prenatal ve postnatal
dönemde yapılan takiplerinin sonuçlarının değerlendirilmesi amaçlanmıştır.

Gereç ve yöntemler: Zeynep
Kamil Kadın ve Çocuk Hastalıkları Eğitim ve Araştırma Hastanesi’nde ikinci
düzey ultrasonografik taraması gerçekleştirilen 3833 gebe çalışmamıza dahil
edildi. İkinci düzey ultrasonografide minör anomalilerin izole olarak veya
birden fazla minör anomalinin kombine olarak saptandığı 369 olgu vaka grubumuzu
oluşturdu. Bunun dışında kalan, minör ve majör anomalinin saptanmadığı 3464
olgu ise kontrol grubumuzu oluşturdu.

Bulgular: Toplam
369 hastadan 295’inde (%79,95) izole minör anomali saptanırken, 74’ünde (%20,05)
ise kombine minör anomali saptanmıştır. İzole minör anomali grubunu oluşturan
hastalarda 10 (%3.4) trizomi 21 olgusu, 1 (%0.3) trizomi 18 olgusu, 4 (%1.4)
kistik fibroz olgusu, 2 (%0.7) kardiyak anomali olgusu, 4 (%1.4) renal anomali
olgusu görüldü. Kombine minör anomali gurubu içerisinde yer alan; hiperekojen
intrakardiyak odak izlenen 37 hastanın 7’sinde (%18.9) trizomi 21, 1’inde
trizomi 18(%2.7), 3’ünde (%8.1) kardiyak anomali ve 3’ünde (%8.1) renal anomali
mevcuttu.

Sonuç:
İzole minör anomali saptanması ile kombine minör anomali saptanması arasında anöploidi
açısından istatistiksel olarak anlamlı fark vardır. Minör anomalilerden
hiperekojen barsak, hiperekojen intrakardiyak odak, renal piyelektazi, nazal
kemik hipoplazisi ve uzun kemiklerde kısalık trizomi 21 riskini istatistiksel
olarak anlamlı oranda arttırmaktadır.

Anahtar Kelimeler

anöploidi, minör anomali, trizomi 21

Prenatal and postnatal evaluation of cases with minor fetal abnormalities

Öz

Aim:
Prenatal detection
of minor abnormalities by fetal ultrasonographic examination are associated
with increased aneuploidy risk. The aim of the study was to evaluate the prenatal
and postnatal outcomes of cases with minor fetal abnormalities.

Materials
and methods: We reviewed 3833
women who had second-trimester ultrasonographic examination at Zeynep Kamil
Research and Training Hospital, retrospectively. Three hundred sixty-nine women
with fetal minor abnormalities were assigned to case group, 3464 women without
fetal abnormality were assigned to control group.

Results:
Two hundred ninety-five
(79.95%) women had isolated fetal minor abnormality and 74 (20.05%) women had multiple
minor abnormalities. There were 10 (3.4%) infants with trisomy 21, 1 (0.3%)
infant with trisomy 18, 4 (1.4%) infants with cystic fibrosis, 2 (0.7%) infants
with congenital cardiac anomalies, and 4 (1.4%) infants with congenital renal
anomalies in the single minor fetal abnormality group. There were 7 (18.9%)
infants with trisomy 21, 1 (2.7%) infant with trisomy 18, 3 (8.1%) infants with
congenital cardiac anomalies, and 3 (8.1%) infants with congenital renal
anomalies in cases with hyperechogenic foci in the fetal heart combined with
any other minor markers.

Conclusion: There were statistically significant differences
between the case group and control group with regard to aneuploidy. Isolated hyperechogenic
bowel, isolated short femur-humerus and combination of hyperechogenic foci in
the fetal heart, renal pyelectasis and hypoplasia of the nasal bone  were associated with increased trisomy 21 risk.

Anahtar Kelimeler

aneuploidy, minor abnormality, trisomy 21

Kaynakça

• 1. Jacobs PA, Browne C, Gregson N, Joyce C, White H. Estimates of the frequency of chromosome abnormalities detectable in unselected newborns using moderate levels of banding. J Med Genet. 1992 Feb;29(2):103-8.
• 2. Chou CY, Peng FS, Lee FK, Tsai MS The Mid-trimester Genetic Ultrasound: Past, Present and Future. J Med Ultrasound 2009;17(3):143–156
• 3. Nicolaides KH. Screening for chromosomal defects. Ultrasound Obstet Gynecol. 2003 Apr;21(4):313-21.
• 4. Benacerraf BR. The role of the second trimester genetic sonogram in screening for fetal Down syndrome. Semin Perinatol. 2005 Dec;29(6):386-94. Review.
• 5. Raniga S, Desai PD, Parikh H. Ultrasonographic soft markers of aneuploidy in second trimester: are we lost? MedGenMed. 2006 Jan 11;8(1):9.
• 6. Smith-Bindman R, Hosmer W, Feldstein VA, et al: Second- trimester ultrasound to detect fetuses with Down syndrome: A meta-analysis. JAMA 285:1044-1055, 2001
• 7. Benacerraf BR, Mandell J, Estroff JA, et al. Fetal pyelectasis: a possible association with Down syndrome. Obstet Gynecol 1990;76:58–60.
• 8. Antsaklis PG, Souka PA, Antsaklis A. Echogenic intracardiac focus: A review of the literature. Ultrasound Obstet Gynecol 5(3): 186-193, 2005
• 9. Roberts DJ, Genest D. Cardiac histologic pathology characteristic of trisomies 13 and 21. Human Pathology 23: 1130–1140, 1992
• 10. Bromley B, Lieberman E, Laboda LA, et al. Echogenic intracardiac focus, a sonographic sign for Down Syndrome?. Obstet Gynecol 86: 998–1001, 1995
• 11. Bromley B, Lieberman E, Shipp TD, Benacerraf BR. The genetic sonogram, a method for risk assessment for Down syndrome in the mid trimester. Journal Ultrasound Med 21: 1087–1096, 2002.
• 12. Nyberg DA, Luthy DA, Resta RG, et al. 1998. Age-adjusted ultrasound risk assessment for fetal Down’s syndrome during the second trimester: description of the method and analysis of 142 cases. Ultrasound Obstet Gynecol 12: 8–14, 1998
• 13. Nyberg DA, Souter VL, El-Bastawissi A, et al. Isolated sonographic markers for detection of fetal Down syndrome in the second trimester of pregnancy. J Ultrasound Med 10: 1053–1063, 2001
• 14. Aagaard-Tillery KM, Malone FD, Nyberg DA, et al. Role of second-trimester genetic sonography after Down syndrome screening. Am J Obstet Gynecol 114: 1189–1196, 2009
• 15. Clark SL, DeVore GR, Sabey PL. Prenatal diagnosis of cysts of the fetal choroid plexus. Obstet Gynecol 1988;72:585– 6.
• 16. Chinn DH, Miller EI, Workty LM, Towers CV. Sonographically detected choroid plexus cysts: frequency and association with aneupolidy. J Ultrasound Med 1991;10:255– 8.
• 17. Benacerraf BR, Harlow B, Figoletto FD. Are choroid plexus cysts an indication for second trimester amniocentesis? Am J Obstet Gynecol 1990;162: 1000–6.
• 18. Snijders RJ, Shawa L, Nicolaides KH. Fetal choroid plexus cysts and trisomy 18: assessment of risk based on ultrasound findings and maternal age. Prenat Diagn 1994;14:1119 –27.
• 19. Bromley B, Lieberman R, Benacerraf BR. Choroid plexus cysts: not associated with Down syndrome. Ultrasound Obstet Gynecol 1996;8:232–5.
• 20. Cicero S, Curcio P, Papageorghiou A, et al.. Absence of nasal bone in fetuses with trisomy 21 at 11–14 weeks of gestation: an observational study. Lancet 2001,358: 1665–1667.
• 21. Bromley B, Lieberman E, Shipp T, et al.. Fetal nasal bone length: a marker for Down syndrome in the second trimester. J Ultrasound Med 2002, 21: 1387–1394.
• 22. Benoit B, Chaoui R. Three-dimensional ultrasound with maximal mode rendering: a novel technique for the diagnosis of bilateral or unilateral absence or hypoplasia of nasal bones in second-trimester screening for Down syndrome. Ultrasound Obstet Gynecol 2005, 25: 19–24.
• 23. Heifetz SA. Single umbilical artery. A statistical analysis of 237 autopsy cases and review of the literature. Perspect Pediatr Pathol. 1984 Winter;8(4):345-78
• 24. Byrne J, Blanc WA. Malformations and chromosome anomalies in spontaneously aborted fetuses with single umbilical artery. Am J Obstet Gynecol. 1985;151:340-342.