[Fetal abnormalities and prognosis associated with increased nuchal translucency and abnormal karyotype].
OBJECTIVE
This study aimed to evaluate the incidence of chromosomal abnormalities in fetuses with increased nuchal translucency (NT) measurement. Incidence of structural abnormalities and pregnancy outcome was also described in fetuses with increased NT and abnormal karyotype.


METHODS
This was a retrospective study involving 246 fetuses with increased NT and known karyotype followed at the Fetal Medicine Unit, Hospital das Clínicas, São Paulo University Medical School.


RESULTS
Fetal karyotype was abnormal in 14.2% of the cases. Ultrasound anomaly scan and specialized echocardiographic studies in these cases showed fetal structural abnormalities in 80.8% and cardiac defects were found in 61.5% of the fetuses. Pregnancy outcome was abnormal in 76.5% of these women.


CONCLUSIONS
Increased NT measurement at 11 to 13 weeks and 6 days is an important marker for fetal chromosomal and structural abnormalities, mainly fetal cardiac defects. This finding also indicates increased risk of spontaneous fetal and neonatal death.
Clínica Obstétrica, Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo, Brazil.
Fátima Aparecida Targino
FA
Saldanha
Maria de Lourdes
Mde L
Brizot
Lilian M
LM
Lopes
Adolfo Wenjaw
AW
Liao
Marcelo
M
Zugaib
D000022:Abortion, Spontaneous / Q000000981:diagnostic imaging / Q000235:genetics; D000328:Adult; D002869:Chromosome Aberrations / Q000706:statistics & numerical data*; D025063:Chromosome Disorders / Q000235:genetics / Q000648:ultrastructure; D002891:Chromosomes, Human, Pair 21 / Q000000981:diagnostic imaging / Q000235:genetics; D000013:Congenital Abnormalities / Q000000981:diagnostic imaging* / Q000235:genetics; D004452:Echocardiography; D005260:Female; D005865:Gestational Age; D006801:Humans; D048208:Nuchal Translucency Measurement / Q000379:methods*; D011247:Pregnancy; D011256:Pregnancy Outcome; D011264:Pregnancy Trimesters; D018566:Pregnancy, High-Risk; D011379:Prognosis; D012307:Risk Factors