Skip to main content
. 2018 Jul 25;46(1):12–19. doi: 10.1159/000490723

Table 2.

Structural anomaliesin the study population and pregnancy outcomes

Fetal anomaly Total Diagnoses
 Pregnancy outcome
11+0 to 13+6 weeks (n = 32)
 20–23 weeks (FTS/DS)b TOP IUD live birth
1st trimestera FTS DS
Central nervous system 14
Acrania/exencephaly 4 4/4 (100) - 4 - 4 (100) - -
Encephalocele 2 2/2 (100) 2 - - 2 (100) - -
Hydrocephaly 2 - - - 2 (1 FTS/1 DS) 1 (50) - 1 (50)
Schizencephaly 1 - - - 1 (FTS) 1 (100) - -
Corpus callosum agenesis 1 - - - 1 (FTS) 1 (100) - -
Craniosynostosis 1 - - - 1 (FTS) - - 1 (100)
Spina bifida 3 - - - 3 (DS) 2 (67) 1 (33) -
Facial 7
Cleft lip 1 - - - 1 (FTS) - - 1 (100)
Cleft palate 1 - - - 1 (DS) - - 1 (100)
Cleft lip and palate 5 - - - 5 (4 FTS/1 DS) - - 5 (100)
Respiratory 8
CAML 5 - - - 5 (3 FTS/2 DS) - - 5 (100)
Hernia diaphragmatica 3 - - - 3 (FTS) 1 (33) - 2 (67)
Cardiac 21
Double-outlet right ventricle 1 - - - 1 (FTS) - - 1 (100)
Transposition great arteries 2 - - - 2 (FTS) - - 2 (100)
Coarctation of the aorta 1 - - - 1 (FTS) - - 1 (100)
Extended aortic arch 1 - - - 1 (DS) - - 1 (100)
Tetralogy of Fallot 4 2/4 (50) 2 - 2 (1 FTS/1 DS) 2 (50) - 2 (50)
Hypoplastic left heart 1 - - - 1 (DS) 1 (100) - -
Atrial septal defect 1 - - - 1 (DS) - - 1 (100)
Atrioventricular septal defect 2 - - - 2 (1 FTS/1 DS) - 1 (50) 1 (50)
Cor triatriatum dexter 1 - - - 1 (FTS) - - 1 (100)
Aortic valve stenosis 1 - - - 1 (FTS) 1 (100) - -
Tricuspid insufficiency 1 - - - 1 (FTS) - - 1 (100)
Aortic aneurysm 1 - - - 1 (FTS) - - 1 (100)
Right aortic arch 1 - - - 1 (FTS) - - 1 (100)
Complex heart defectc 3 2/3 2 - 1 (FTS) 2 (67) 1 (33) -
Gastrointestinal 2
Esophageal atresia 1 - - - 1 (FTS) - - 1 (100)
Duodenal atresia 1 - - - 1 (FTS) - 1 (100) -
Abdominal wall 12
Gastroschisis 3 2/3 (67) 2 - 1 (FTS) - 1 (33) 2 (67)
Omphaloceled 9 9/9 (100) 4 5 - 4 (44.4) - 5 (55.6)
Urogenital 33
Unilateral renal agenesis 5 1/5 (20) 1 - 4 (4 FTS/1 DS) 1 (20) - 4 (80)
Megacystis 4d 4/4 (100) 2 2 - 2 (50) - 2 (50)
Unilateral multicystic renal dysplasia 8 - - - 8 (5 FTS/3 DS) - - 8 (100)
Bilateral multicystic renal dysplasia 2 - - - 2 (1 FTS/1 DS) 2 (100) - -
Unilateral hydronephrosis 7 - - - 7 (5 FTS/2 DS) - - 7 (100)
Bilateral hydronephrosis 4 - - - 4 (3 FTS/1 DS) 1 (25) - 3 (75)
Unilateral ureterocele 1 - - - 1 (FTS) - - 1 (100)
Double collecting system 2 - - - 2 (FTS) - - 2 (100)
Skeletal 17
Limb reduction 1 1/1 (100) 1 - - - - 1 (100)
Polydactyly 3 1/3 (33) 1 - 2 (FTS) - - 3 (100)
Syndactyly and oligodactyly 1 - - - 1 (FTS) - - 1 (100)
Club foot unilateral 2 - - - 2 (FTS) - - 2 (100)
Club feet bilateral 6 - - - 6 (FTS) - - 6 (100)
Rocker bottom feet 1 - - - 1 (FTS) - - 1 (100)
Skeletal dysplasia 3 1/3 (33) 1 - 2 (FTS) 1 (33) - 2 (67)
Others
Multiple congenital anomaliese 5 3/5 (60) 2 1 2 (FTS) 3 (60) - 2 (40)
Total 119 32 (27) 20 12 87 32 (27) 5 (4) 82 (69)

Values are presented asn (%). CAML, congenital adenomatoid malformation of the lung; DS, dating scan; FTS, first-trimester screening; IUD, intrauterine death; TOP, termination of pregnancy.

a

Detected in the first trimester.

b

Number of fetuses who underwent DS versus FTS.

c

One case with dextrocardia, hypoplastic aorta, and aplastic mitral valve, 1 case with transposition of the great arteries and double-outlet right ventricle, and 1 case with unspecified multiple heart defects.

d

Two cases of megacystis <15 mm with spontaneous resolution and 2 cases of bowel-only omphalocele with spontaneous resolution.

e

One case with omphalocele, split hand, dimorphic face, and abnormal skull shape; 1 case with omphalocele and missing foot; 1 case with bilateral hydronephrosis, polydactyly, and ventriculomegaly, and CHARGE syndrome postnatally; 1 case with nasal tumor, cleft lip and palate, hypertelorism, flat nose, dilated heart, and atrial septal defect; 1 case with unspecified heart anomaly, increased nuchal translucency, and missing nasal bone (no karyotype done).