FETAL ANOMALIES THAT MAY BE DTECTED

AT THE 11-14 WEEK SCAN 

 

 

 

·         Gembruch et al. (1) reported an 11-week fetus:

o       Persistent bradycardia (60 bpm)

o       Increased nuchal translucency

o       Complete atrioventricular canal defect and complete heart block

o       Pathological examination demonstrated situs inversus visceralis totalis and the suspected cardiac defect.

·         DeVore et al. (2) examined a 14-week fetus:

o       Persistent bradycardia (70 bpm), ventricular septal defect, ventricular wall hypertrophy, dilated aortic root and pericardial effusion

o       Ascites

o       Situs inversus of the stomach

o       Pathological examination after intrauterine death at 16 weeks confirmed the ultrasound findings.

·         Bronshtein et al. (3) reported the ultrasound findings in a 13-week fetus:

o       Ventricular septal defect and overriding aorta, suggesting the diagnosis of tetralogy of Fallot.

o       Increased nuchal translucency

o       Omphalocele

o       Cytogenetic analysis demonstrated trisomy 18.

o       Pathological examination after intrauterine death at 17 weeks confirmed the diagnosis of tetralogy of Fallot.

·         In another case of at 13 weeks Bronshtein et.al. (3):

o       Omphalocele

o       Pericardial effusion and ventricular septal defect

o       Fetal karyotype was normal.

o       At 18 weeks, hydrocephalus and oligohydramnios were also noted and pathological examination after intrauterine death at 21 weeks confirmed the ultrasound findings. In addition, there was a double-outlet right ventricle and absence of the ductus arteriosus.

·         Achiron et al. (4) reported the sonographic findings in eight fetuses with cardiac defects diagnosed at 10–12 weeks of gestation:

o       Karyotype was normal in seven and one had Turner syndrome.

o       Increased nuchal translucency thickness and pericardial effusion in seven cases.

o       One case of tachycardia

o       One case of ectopia cordis in association with omphalocele.

o       One case with a giant right atrium that was subsequently diagnosed as Uhl disease.

o       Two cases with atrioventricular septal defects

o       Three cases had ventricular septal defects (two cases had tetralogy of Fallot and the third case had persistent truncus arteriosus, at pathological examination.

·         Bronshtein et al. (5) reported the results of an ultrasound screening study involving 81 fetuses at 12 weeks, 341 at 13 weeks and 980 at 14 weeks:

o       Cardiac defects were identified in five fetuses:

·         one had a small left ventricle and pericardial effusion at 11 weeks

·         one had a ventricular septal defect, dilated left ventricle and pericardial effusion at 12 weeks that was subsequently diagnosed as tetralogy of Fallot

·         one had a ventricular septal defect and overriding aorta at 13 weeks

·         one had dextrocardia at 14 weeks that was subsequently found to have a ventricular septal defect

·         one had a single atrium and single ventricle at 14 weeks.

·         Gembruch et al. (1) reported the results of ultrasound screening in 15 fetuses at 11 weeks, 30 at 12 weeks, 51 at 13 weeks and 11 at 14 weeks.

o       Ten fetuses had cardiac anomalies

o       In nine of these, the diagnosis was correctly made at the 11–14-week scan.

·         One case had complete atrioventricular septal defect with double- outlet right ventricle that was not detected at 12 weeks but was correctly diagnosed at 21 weeks.

·         Five cases had complete atrioventricular septal defect (one with dextrocardia and two with atrioventricular heart block)

·         There was one case of single ventricle and common atrium that was subsequently, at the 20-week scan, also found to have dextrocardia, malposition of the great arteries and situs inversus visceralis

·         One case of perimembranous ventricular septal defect

·         One case with suspected single ventricle and hypoplasia of the aorta that was subsequently found at postmortem examination to have hypoplastic left heart, hypoplasia of the ascending aorta and the aortic arch, right-sided isomerism of the atria and asplenia

·         One case of hypoplastic left heart, hypoplastic aorta and left ventricular endocardial fibroelastosis.

·         Eight of ten cases with cardiac defects had increased nuchal translucency thickness (fetal karyotype was normal in six cases, trisomy 21 in two, trisomy 18 in one and Turner syndrome in one)

 

Omphalocele in the first trimester

 

Gastroschisis

 

 

 

REFERENCES

 

 

1.      Gembruch U, Knopfle G, Chatterjee M et.al. First-trimester diagnosis of fetal congenital heart disease by transvaginal two-dimensional and Doppler echocardiography. Obstet Gynecol 1990;75:496–8

2.      DeVore GR, Steiger GR, Larson EJ. Fetal echocardiography: the prenatal diagnosis of a ventricular septal defect in a 14-week fetus with pulmonary artery hypoplasia. Obstet Gynecol 1987;69:494–7

3.      Bronshtein M, Siegler E, Yoffe N, Zimmer EZ. Prenatal diagnosis of ventricular septal defect and overriding aorta at 14 weeks’ gestation, using transvaginal sonography. Prenat Diagn 1990;10:697–702

4.      Achiron R, Rotstein Z, Lipitz S et.al.  First-trimester diagnosis of fetal congenital heart disease by transvaginal ultrasonography. Obstet Gynecol 1994;84:69–72

5.        Bronshtein M, Zimmer EZ, Milo S et.al.  Fetal cardiac abnormalities detected by transvaginal sonography at 12–16 weeks’ gestation. Obstet Gynecol 1991;78:374–8

6.      Kushnir O, Izquierdo L, Vigil D, Curet LB. Early transvaginal diagnosis of gastroschisis. J Clin Ultrasound 1990;18:194–7

7.       Guzman ER. Early prenatal diagnosis of gastroschisis with transvaginal sonography. Am J Obstet Gynecol 1990;162:1253–4