Structural and functional cardiac abnormalities identified prior to 16 weeks' gestation in fetuses with increased nuchal translucency

Lopes, Lílian Maria; Brizot, Maria de Lourdes; Lopes, Marco Antônio Borges; Ayello, V. D.; Schultz, Regina; Zugaib, Marcelo

doi:10.1002/uog.905

Cited by 46 publications

(50 citation statements)

References 23 publications

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“…However, this corroborates the findings of studies that assessed increased NT in fetuses with normal kar yotype and found variability in the association with structural malformations, chiefly hear t defects, ranging from 4.8 to 32.1%. 8,10,11,18,19, In the present study, the chances of major structural malformation, detected in the prenatal period, also grew as NT increased, and therefore propor tions were close to the ones described by other authors.1,6,7 Nonetheless, as we observed, most malformations (78.6%) were detected in the first or second trimester. Malformations that were not diagnosed in the prenatal evaluation (unilateral, bilateral clubfoot and microtia) were isolated cases and were not associated with delayed brain development.…”

Section: Discussionsupporting

confidence: 90%

Translucência nucal aumentada e cariótipo normal: evolução pré e pós-natal

Saldanha

Brizot

Moraes

et al. 2009

Rev. Assoc. Med. Bras.

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Objective:The aim of this study was to evaluate prenatal and postnatal outcomes of fetuses with increased nuchal translucency thickness (NT) and normal karyotype. MethOds: Two hundred seventy-five fetuses with increased NT were submitted to karyotyping analysis, serial ultrasound scans, echocardiography and postnatal clinical and genetic evaluation at the Division of Fetal Medicine of the Obstetric Outpatient Clinic of Universidade de São Paulo. Results:The karyotype was abnormal in 14.2% of the cases and normal in 85.8%. In cases with normal karyotype, 24.7% presented structural abnormalities in the second-trimester ultrasound scan, and one third showed major malformations, 35.7% of which consisted of heart defects. Adverse pregnancy outcome such as miscarriages, intrauterine and neonatal deaths occurred in 10.2% of cases. Postnatal follow-up was established for 72.7% of infants, and abnormalities were observed in 14.8% of them. Chances of having a live and healthy infant decreased with increased NT thickness, corresponding to 37.5% for NT equal to or greater than 4.5 mm. cOnclusiOn: In cases with increased NT thickness and normal karyotype, the frequency of fetal malformations, especially heart defects, adverse pregnancy outcomes and postnatal abnormalities is related to NT thickness.

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Section: Discussionsupporting

confidence: 90%

Translucência nucal aumentada e cariótipo normal: evolução pré e pós-natal

Saldanha

Brizot

Moraes

et al. 2009

Rev. Assoc. Med. Bras.

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“…41 In this study, fifty-five pregnant women underwent specialized fetal echocardiography and 33 (60%) showed changes in heart morphology and/or function. The most common cardiac anomaly was VSD, which corresponded to 39% of abnormal diagnoses, similar to the study by Lopes et al, 57 in 2003, in which they report that out of 275 fetuses with increased NT, 24 (8.7%) had abnormal karyotype and cardiac structural abnormalities, the most frequent being the VSD, present in 38% (9 of 24). In this study, fetuses with trisomy 13/18 had a significantly higher incidence of cardiac anomalies: 60 versus 25% (T21) and 29% (45X).…”

Section: Discussionsupporting

confidence: 86%

Intrauterine death in singleton pregnancies with trisomy 21, 18, 13 and monosomy X

Goulart

Liao

Carvalho

et al. 2016

Rev. Assoc. Med. Bras.

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Paulo (HC-FMUSP), which included 92 singleton pregnancies with prenatal diagnosis of trisomy of chromosome 21 (T21), 18, 13 (T13/18) and monosomy X (45X), with diagnosis performed until the 26th week of pregnancy. The aim of the study was to describe the frequency and to investigate predictors of spontaneous fetal death (FD). Diagnosis (T21, n=36; T13/18, n=25; 45X, n=31) was made at a mean gestational age of 18.3±3.7 weeks, through chorionic villus biopsy (n=22,24%), amniocentesis (n=66, 72%) and cordocentesis (n=4, 4%). Major malformations were present in 45 (49%); with hydrops in 32 (35%) fetuses, more frequently in 45X [n=24/31, 77% vs. T21 (n=6/36, 17%) and T13/18 (n=2/25, 8%), p<0.001]. Specialized fetal echocardiography was performed in 60% (55/92). Of these, 60% (33/55) showed changes in heart morphology and/or function. Fetuses with T13/18 had a higher incidence of cardiac anomalies [60 vs. 25% (T21) and 29% (45X), p= 0.01]. FD occurred in 55 (60%) gestations, being more frequent in 45X [n=26/31, 84% vs. T21 (n=13/36, 36%) and T13/18 (n=16/25, 64%), p<0.01]. Stepwise analysis showed a correlation between hydrops and death in fetuses with T21 (LR= 4.29; 95CI=1.9-8.0, p<0.0001). In fetuses with 45X, the presence of echocardiographic abnormalities was associated with lower risk of FD (LR= 0.56; p=0.005). No predictive factors were identified in the T13/18 group. Intra-uterine lethality of aneuploid fetuses is high. Occurrence of hydrops increases risk of FD in pregnancies with T21. In pregnancies with 45X, the occurrence of echocardiographic changes reduces this risk.

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“…11 Fetal echocardiography performed through the transvaginal route allowed adequate images of the AV septal defect in 3 patients and the hypoplastic right ventricle in 1 patient. It was also possible to diagnose 2:1 AV block in a 10-week-old fetus by using wall motion by M-mode and superior vena cava/aortic flow by Doppler imaging.…”

Section: Discussionmentioning

confidence: 99%

Perinatal Outcome of Fetal Atrioventricular Block

et al. 2008

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Background-Fetal atrioventricular (AV) block is an uncommon lesion with significant mortality. Because of the rarity of this disorder, the natural course, extensive evaluation of untreated fetuses, and late follow-up remain unclear. Methods and Results-Of the 116 consecutive cases of fetal AV block studied from 1988 to 2006, only 1 was terminated, and 75% were live births. Fifty-nine cases of AV block were associated with major structural heart disease, mainly left atrial isomerism (nϭ40), with only 26% of neonatal survivors. Of the 57 fetuses with normal cardiac anatomy, 41 (72%) were positive for maternal antinuclear antibodies, and 32 of these seropositive mothers did not receive any treatment. This untreated group had live-birth and 1-year infant survival rates of 93% and 90%, respectively. Five fetuses from seronegative mothers showed regression to sinus rhythm during pregnancy. The presence of major structural heart disease, hydrops, an atrial rate Յ120 bpm, and a ventricular rate Յ55 bpm were identified as risk factors for mortality. Logistic regression analysis of the whole group showed that the presence of structural heart disease was the only independent predictor of death (PϽ0.001). Conclusions-This long-term study confirms that fetal AV block has a poor outcome when associated with structural heart disease and that spontaneous regression of AV block is possible in seronegative forms. The survival rate of Ͼ90% of our untreated patients with isolated forms of AV block raises concerns about any decision to intervene with immunosuppressive agents. (Circulation. 2008;118:1268-1275.)

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Structural and functional cardiac abnormalities identified prior to 16 weeks' gestation in fetuses with increased nuchal translucency

Abstract: Objective To determine the accuracy and practicality of fetal echocardiography in the identification of structural and functional cardiac abnormalities prior to 16 weeks' gestation in fetuses with increased nuchal translucency thickness (NT). Methods

Cited by 46 publications

References 23 publications

Translucência nucal aumentada e cariótipo normal: evolução pré e pós-natal

Translucência nucal aumentada e cariótipo normal: evolução pré e pós-natal

Intrauterine death in singleton pregnancies with trisomy 21, 18, 13 and monosomy X

Perinatal Outcome of Fetal Atrioventricular Block

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