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

Abstract 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.
PMID
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Authors

Mayor MeshTerms

Aneuploidy

Karyotyping

Nuchal Translucency Measurement

Keywords
Journal Title medicine
Publication Year Start




PMID- 28723764
OWN - NLM
STAT- MEDLINE
DA  - 20170720
DCOM- 20170728
LR  - 20170801
IS  - 1536-5964 (Electronic)
IS  - 0025-7974 (Linking)
VI  - 96
IP  - 29
DP  - 2017 Jul
TI  - Increased nuchal translucency in fetuses with a normal karyotype-diagnosis and
      management: An observational study.
PG  - e7521
LID - 10.1097/MD.0000000000007521 [doi]
AB  - 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.
FAU - Socolov, Demetra
AU  - Socolov D
AD  - aDepartment of Mother and Child Medicine, University of Medicine and Pharmacy Gr.
      T. Popa Iasi bHospital of Obstetrics and Gynecology Elena Doamna-Iasi cHuman
      Genetics Department, University of Medicine and Pharmacy Gr. T. Popa Iasi
      dUniversity of Medicine and Pharmacy Carol Davila-Bucharest, Romania.
FAU - Socolov, Razvan
AU  - Socolov R
FAU - Gorduza, Vlad Eusebiu
AU  - Gorduza VE
FAU - Butureanu, Tudor
AU  - Butureanu T
FAU - Stanculescu, Ruxandra
AU  - Stanculescu R
FAU - Carauleanu, Alexandru
AU  - Carauleanu A
FAU - Pavaleanu, Ioana
AU  - Pavaleanu I
LA  - eng
PT  - Journal Article
PT  - Observational Study
PL  - United States
TA  - Medicine (Baltimore)
JT  - Medicine
JID - 2985248R
SB  - AIM
SB  - IM
MH  - Adult
MH  - Amniocentesis
MH  - *Aneuploidy
MH  - Female
MH  - Fetal Diseases/*diagnostic imaging/genetics/*therapy
MH  - Follow-Up Studies
MH  - Humans
MH  - *Karyotyping
MH  - *Nuchal Translucency Measurement
MH  - Pregnancy
MH  - Pregnancy Outcome
MH  - Retrospective Studies
MH  - Romania
MH  - Young Adult
PMC - PMC5521904
EDAT- 2017/07/21 06:00
MHDA- 2017/07/29 06:00
CRDT- 2017/07/21 06:00
AID - 10.1097/MD.0000000000007521 [doi]
AID - 00005792-201707210-00029 [pii]
PST - ppublish
SO  - Medicine (Baltimore). 2017 Jul;96(29):e7521. doi: 10.1097/MD.0000000000007521.